MAPPED: The Red Sea and Cayman Islands among the BEST spots for scuba diving – Express.co.uk

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Depending on where you are travelling to, scuba diving seems to one of the activities offered to hundreds of tourists.

And with an increasing number of websites offering, advice, lessons and selling equipment, it can get a little confusing as to where exactly should plane your underwater trip.

Everyone will have a varied criteria as to what they want to see once they are out there, and different companies will offer different resources,

So here, Express.co.uk reveal some of the best spots to go scuba diving and why.

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Cayman Islands, Caribbean

This British Overseas Territory is known as the king of all Caribbean diving sites.

Aside from the fact it has good weather all year round, the Cayman Islands offers the best opportunity to see an array of saltwater marine life from stingrays to angel fish.

Punta Gorda, Costa Rica

If you are after something a little different, then then Costa Ricas has an exquisite underwater world.

You can witness schools of fish and the eagle rays. Those wanting a bit more adventure can visit Murcielagos or the islands of the Catalinas where they will be able to see manta rays, sharks, multi-coloured tropical fish and stunning coral reefs.

Beqa Lagoon, Fiji

Although Fiji is famous for its numerous diving sites, the Beqa Lagoon is by far one of the best.

Its unique underwater topography and colourful soft corals are what set this diving site apart from others. Witness incredible formations and tropical fish in the Side Streets, Nisici Rocks and Ceasar Rocks.

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Top 10 travel destinations for 2017

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The Red Sea is one of the most famous scuba diving sites and is known for its unique underwater ecosystem and vast number of reefs

Red Sea, Egypt

The Red Sea is one of the most famous scuba diving sites and is known for its unique underwater ecosystem and vast number of reefs.

The Ras Mohammed is probably one of the well-known spots where you can enjoy the marine life in super clear waters.

Palau, Micronesia

Palau has been rated as the hottest dive spot on this planet.

It is well-know for is huge numbers of pelagic fish and strong currents. This popular diving spot also offers the opportunity to go swimming with dolphins.

Galapagos Islands, Ecuador

Originally made famous by Charles Darwin and now, the Galapagos Islands are known for its marine life.

This is the idea spot for divers who want to explore fishes such as sting rays, golden rays, whales, white tip reef sharks, pelagic fish, marine iguanas and more.

Ambergris Caye, Belize

Known for its warm waters and diverse ecosystem, the Ambergris Caye offers stunning views of marine life.

From swimming alongside nurse sharks and stingrays to the vast variety of reefs, it is certainly one of the top places to go scuba diving.

Great Barrier Reef, Australia

The Great Barrier reef is an incredible, awe-inspiring world underwater and

is by far one of the most unforgettable places to go scuba diving.

It offers a colourful splendour of reeds and is the home to countless fish species including the great white shark.

Bali, Indonesia

Scuba diving in Bali is particularly popular among tourists, with hundreds coming from all over the world just to witness its marine life.

In particular there are schools of fish swimming in the waters and you can join the.

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Cozumel, Mexico

At Cozumel you have the option go snorkelling as well as scuba diving; and if you choose to dive there so many things to explore underwater.

This particular spot is well-known for its 19 unusual reefs, caves and underwater caverns.

Kailua Kona, Hawaii

Hawaii was once believed to have the largest marine reserve in the world - although Australia now holds that title.

Not only can you witness range of underwater animals from giant sea turtles and fish to sharks, sting rays and whales, but the ocean floor has been lined with underwater lights. If you opt for a spot of night diving you will able to see infinite numbers of plankton.

Koh Tao Island, Thailand

This island in Thailand is specifically dedicated to scuba diving.

This is because it is surrounded by colourful reefs and ideal if you want to see grey reef sharks and whale sharks.

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MAPPED: The Red Sea and Cayman Islands among the BEST spots for scuba diving - Express.co.uk

Payton Elmer and Anna Hoover lead Thousand Islands to Class C title in 3OT thriller – Syracuse.com

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Payton Elmer drained a three-pointer and Anna Hoover added two baskets to lead Thousand Islands to a 54-52 triple overtime victory over Syracuse Academy of Science on Sunday at the Allyn Gym on the OCC campus.

Thousand Islands (18-2)has a bye into the state tournament regional on March 11 at Tompkins Cortland Community College in Dryden. The Vikings will play Section IV champion Watkins Glen.

Elmer finished with six points, both on three-point shots, giving her 23 for the season. The first came late in the first quarter and the second with 2:08 left in the third overtime session after she has missed on in the second extra session."I knew the it wasn't going in but it wasn't going to hurt," said Elmer. "When I had another chance and took it and made it. It's such an incredible feeling,I really to have any words to explain it."

"That's what she (Payton) does," said Thousand Islands coach Pete Pettit. "She's got a green light no matter what. She doesn't start for us a lot but she is our senior leader and she has confidence so I know that she could make that shot and she did."

Hoover finished with a team-high 23 points, four coming in the third overtime period and the last bucket, a put back shot, extended the Vikings lead to 53-47 with 1:05 left on the clock. "We knew they were taller so we really had to step it up," said Hoover. "We had to crash the boards and dig down low. We knew if we kept driving we would get them in foul trouble."

Thousand Islands nearly didn't see the third overtime session. The Vikings trailed SAS 46-45 with 4.6 seconds left in the period when Kennedy Amo missed one foul shot and made the other. SAS was assessed a technical foul when one of the players signaled for a time out and the team had none left. Madyson Amo converted on one of the two technical foul shots with 2.6 left on the clock to force the third overtime session.

"Hoover has gotten tougher for us every year and she is just a junior for us," said Pettit. "One thing she has worked on for us is her strength. She's done a lot of training and working hard on getting stronger. And with that she has gotten ore aggressive. When she sees the ball she goes and gets it. Her mom is my assistant coach and always yells to go get the all and that helps too."

Both teams shot under 50 percent from the foul line as both teams converted on just 14 of 31 shots from the charity stripe.

"We missed 20 something foul shots and I stopped counting after a while," said Pettit. "I've got a lot of young kids shooting those and one senior team so I knew that might be an issue and it might hurt us a bit.But the kids kept working hard, we were down a couple times in those overtimes, but we kept fighting. Syracuse Academy of Science is one great team and it was a battle in triple overtime and it could have gone either way."

Syracuse Academy of Science was led by Lyrik Jackson, Section III leading scorer, with a game-high 24 points, nine coming in the overtime sessions. Despite that Pettit credits the Vikings defense in the win. "I think our defense won it for us tonight," he said. "I think we were better on defense tonight than I thought we were going to be and I thought our man defense did an excellent job."

When the game finally ended an overjoyed Pettit ran across the court, held his arms in the air and let out a big yell of joy to the Thousand Islands fans in attendance. "I told my wife this morning that if we win this I am either going to cry or pass out or have no clue as to what I am going to do," he said. "I wasn't in control of myself, butat least I didn't pass out."

The undermanned Vikings, with only eight players, relied ondrinking a lot of water and the subs all got in the game early to give the starters a break. According to Pettit, "The kids are in shape. I only got eight kids and we run a lot in practice. This is how we have prepared all year."

Thousand Islands now has just five days to prepare for state regional play. "I'm giving the player Monday off and then those missed foul shots are what we are going to work on Tuesday," said Pettit.

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Payton Elmer and Anna Hoover lead Thousand Islands to Class C title in 3OT thriller - Syracuse.com

Exploring the Cayman Islands on a Budget – TravelPulse

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PHOTO: There are plenty of ways to enjoy a Cayman Islands experience while traveling on a strict budget. (Photo by Scott Laird)

The Cayman Islands, like the rest of the Caribbean, arent known for being a moderately priced destination. In fact, a mention that youre headed to the Caymans will often to spur questions about whether youre visiting your offshore bank account or setting up a shell corporation.

But the secret, as I learned on my recent visit, is that if you make some tweaks to your typical travel budget, you can enjoy the beautiful destination for an outlay thats comparable what you might expect at other destinations in the region.

Visitors who typically select upscale properties when traveling domestically are conditioned to expect to pay from around $150 a night at the low end for second-tier cities to around $300 a night for major cities at the high end. When those same brands command room rates closer to $500 to $600 a night on Grand Cayman, plus resort fees averaging around $60 per night, its easy to understand why price shoppers might write off the destination as beyond their budget.

I, myself, am that exact type of travel buyer. Thats where Comfort Suites Seven Mile Beach on Grand Cayman comes in. I talked with Choice about their perspective on upper midscale lodging in the Caribbean, and their perspective was one that I could get behind, save on the stay; splurge on the play. I know from experience that many midscale and upper midscale hotel brands tend to ratchet up the quality a notch or two outside the Continental United States, so I hopped a flight to Grand Cayman to check it out for myself.

The property itself, which just came off a refresh, is in spectacular condition and is as close to the famed Seven Mile Beach as an off beach hotel might wish. The hotel is just steps from the beach and a hotel attendant can assist with chairs and umbrellas for a fee. The only difference between the location of the hotel and the larger resorts (aside from the price) is that its not beachfront, or beach facing. That said, some of the suites on the top floors have ocean views, and I quickly got myself into the habit of watching the cruise ships slip into port over my morning cup of coffee.

The room rate (which starts from $140 to around $300 depending on availability and season dispenses with the resort fee charged by most other island hotels) also includes breakfast, and its a substantial one: a selection of pastries, toast, bagels, flavored and plain regular and Greek yogurts, hard-boiled eggs, coffee, tea, juice, milk, cereals, a rotating selection of waffle flavors, eggs, and breakfast meats. Upgrades from some Choice properties stateside include silverware and chinaware plates instead of paper and plastic.

The hotel also has a resort pool with dependable poolside dining featuring hearty portions and well-priced drinks. Most suites have kitchens or kitchenettes with refrigerators and ranges for chilling and reheating leftovers.

Now, down to brass tacks: we know the hotel is affordable, but how much does everything else cost? Note that most prices I mention below are in Cayman Dollars unless otherwise specified, which are worth about $1.25 USD.

Several of the casual eateries on the island had dinner entrees ranging from $12 to $25 for jerk barbecue, grilled seafood and steaks. Understandably local seafood is cheaper. Most meats are imported, although theres been an increase in farm-to-fork dining on the island, with plenty of island-grown fruits and vegetables making their way onto local menus. Do try fried breadfruit (a starchy tree fruit with aconsistency similar to a potato) instead of fries for something different.

At the time of my visit, introductory gas price was about $4.20 per gallon, and rental cars ran about $200 a week, but a good alternative (particularly for those weary of driving on the left side of the road) are the local buses, which are minibuses identified by a sign in the windshield, and cost around $2.

Most shopping in Georgetown had prices displayed in US dollars, although it can get crowded during the weekdays when there are a lot of cruise ships anchored offshore. The best day for daytime shopping is Saturday when most ships have returned to the U.S. for turnarounds. Having forgotten a hat, I was able to pick up a serviceable wide-brimmed straw one for about $10 USD in one of the shops.

The Cayman Turtle Centre is a good activity for those wanting to get up and personal with some sea turtles, which are prevalent in the Caymans, and even serve as the islands tourism mascot. The mascots name is Sir Turtle, and he wields a jaunty pirate cap and peg leg. For basic activities, adult entry is US $18, while children under 12 get in for $9 . Or spend a whole day at the water park and beach area for $45/$25.

For those wanting to get out on the water, there are plenty of smaller tour operators who run affordable, intimate tours and can tailor their itineraries to avoid the crowds when cruise ships are in port. The Six Senses Eco Tour is a six hour, six-stop tour that includes a stop to buy lunch or cocktails at Rum Point (the birthplace of the Mudslide) reef snorkeling, Starfish Point for starfish photo ops, a cruise along a mangrove forest, and a stop at Stingray City for selfies holding stingrays (its said to be good luck if you kiss them). Its definitely a bargain at US $100 for the six-hour tour on a stable pontoon boat. Atlantis offers submarine reef dives for around $100USDa novelty for many, the submarine dives to depths of up to 100 feet.

The Takeaway: Despite a reputation for high-end lodging, there are quality upper midscale accommodations to be had on Grand Cayman, and dining and activities are in line with the regional average. Grand Cayman is a laid back, beautiful island with mild, pleasant weather, and reserved but effusively gracious people.

Dining:

I found food to overall better quality than to what Im accustomed to elsewhere in the Caribbean. Portion sizes are generousmost entrees yield leftovers.

Peppers: A short walk from the Comfort Suites. Mains run $12 - $25 including grilled seafood, jerk chicken, pork, and sausage, salads, and pizzas.

Da Fish Shack: Georgetown, Oceanfront. Mains run $15 - $25 and include ceviche, burgers, seafood and other Caribbean favorites.

Rum Point Club: Rum Point, Oceanfront. Sandwiches $10-$11, catch of the day $13. Snacks and cocktails are available.; do try the Mudslide.

Rackams: Georgetown, Oceanfront. Seafood and steaks entrees $15 - $25.

Abacus: Camana Bay. Farm to table cuisine, includes seafood and steaks, salads, soups, ceviches, tapas and a raw bar. Mains $19 - $42

Airfare, accommodations, meals and tours were furnished by Choice Hotels in preparation for this story.

For more photos, check out my Instagram.

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Fierce winds as Cyclone Blanche nears Western Australia – 9news.com.au

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Wind gusts up to 150km/h are expected to lash part of Western Australias northern coast as Cyclone Blanche continues its southwest journey.

The Bureau of Meteorology (BoM) said gusts up to 120km/h are developing between the border of the Northern Territory and Western Australia as the cyclone moves southwest.

Cyclone Blanche, which is now a category two system, will cross the Kimberley coast later today, BoM advised.

Winds could reach a destructive 150km/h between Kalumburu and Wyndam, with residents there warned to prepare to take shelter.

Gales may pick up between the Northern Territorys Wadeye and the state border if the cyclone moves in a more westerly direction.Heavy rain is also expected to continue between the Top End and the Kimberley.

Earlier Darwin, which was under warning yesterday, was spared the worst of Blanche, with shelters set up in the city since closed.

The Top End still copped big downpours and strong winds, including damaging gusts up to 95km/h along the Northern Territory's Bathurst Island coasts, where a record 383mm of rain fell.

Cyclone Blanche formed as a category one system yesterday morning south of the Tiwi Islands and has been heading southwest since.

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Turks and Caicos Toddler Gets Critical Diabetic Care in the Cayman Islands – Caribbean360.com (subscription)

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Lakeisha Wilson with her daughter Alaa

GRAND CAYMAN, Cayman Islands, Sunday March 5, 2017 A two-year-old toddler from the Turks and Caicos Islands has a new lease on life after receiving critical diabetic treatment at a Caribbean hospital.

Bahamian Lakeisha Wilson, who works as a nutritionist in a Turks and Caicos Islands hospital, traveled to Health City Cayman Islands, a Joint Commission International-accredited facility, to meet with a pediatric endocrinologist who could treat her daughter Alaa, who was recently diagnosed with Type 1 Diabetes (Insulin-Dependent Diabetes).

Health City Cayman Islands is home to the only pediatric endocrinologist permanently based in the Caribbean.

Two-year-old Alaa had been experiencing abnormal blood sugar levels (high and low) and with no diabetic specialists for children in Turks and Caicos, urgent care was sought at the regional tertiary care hospital just an hour away from Miami.

Arriving in the Cayman Islands for the first time, Wilson was apprehensive. However, she said her fears subsided immediately as she was impressed with the ambiance of the hospital as well as the warmth of the staff.

Health Citys Consultant Pediatric Endocrinologist Dr. Deepa Subramonian said controlling the potentially life-threatening condition was really challenging. When the toddler came to the hospital her blood sugar levels were out of control with frequent lows and highs, she observed.

Dr. Deepa, as she is referred to, adjusted Alaas insulin regimen according to her specific needs and she subsequently responded well to the treatment. The doctor also recommended the use of an insulin pump (small doses of insulin are programmed to be released continuously at specific intervals) with continuous glucose monitoring rather than the pin prick and glucometer method used to adjust the doses of insulin administered. Periodic clinic follow up of Alaas diabetic condition at Health City was also arranged.

Wilson spoke highly of the holistic, value-added care and work ethic at Health City. She included not only the medical team but also the healthcare administrators, counsellor and on-site chaplain in her praise. I see people that really have a heart for what they do and I find that rare, she said.

She also expressed her gratitude to the staff and encouraged them to continue the excellent care they provide, saying: From the driver who picks you up at the airport to the international team members.who really go out of their way to make you feel important and make you feel comfortable. I would just like to salute them and publicly say thank you and acknowledge that they are rare gems in healthcare and I admire what they do.

Dr. Deepa remains in contact with Wilson in Turks and Caicos to monitor Alaas condition and progress.

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History is Altoona man’s hobby, and genetics is livelihood – Altoona Mirror

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Mirror photo by Cherie Hicks Michael Farrow sits in his Altoona home next to an 1850 marble fireplace that came from his aunts house in Philadelphia. The author of Altoonas Historic Mishler Theatre will receive the 2016 Angel of the Arts award from the Blair County Foundation on Saturday.

Michael Farrow was educated in human genetics and spent a career in the emerging field. But he has spent his retirement indulging his love of history and the arts, roused by youthful summers spent at his grandparents in Philadelphia.

He researched and wrote Altoonas Historic Mishler Theatre, published last year. For that, the Blair County Arts Foundation is honoring him with its 2016 Angel of the Arts award at its annual dinner on Saturday.

He devoted three years of his life to it and is giving all the proceeds to the Mishler, said Kate Shaffer, BCAF executive director.

She said the 174-page hardback book created a magnificent retrospective of the Mishlers past, present and potential.

Farrow said the award surprises him because even though he was born and mostly raised in Altoona, he went away for his college and career.

Im just somebody who came back to town (six) years ago after being gone for years, he said.

Farrow wasnt supposed to grow up here. Less than a year after he was born, his father, a medical doctor, took the family and his practice to a Boston suburb to take care of soldiers returning from World War II.

But, in 1943, when Farrow was 4, his father contracted strep throat from a patient and died; penicillin, only recently discovered, was not widely available.

The family eventually returned to Altoona, where Farrow attended Adams Elementary, Roosevelt Junior High and Altoona High, graduating in 1957. Summers were spent crisscrossing Philadelphia for its historical sites, museums and art.

For 12 years, I was immersed in all this history, said Farrow.

Although his grandparents were of Lebanese descent having immigrated in the late 19th century they lived near a neighborhood of working-class Italian immigrants, who would sit on their front stoops, talk and listen to music blaring from inside. That is where Farrow picked up his love of opera.

He bragged on the Altoona schools music programs, and he was in the band. He also spent a lot of time in movie theaters there were 10 in Altoona in the 1950s, he noted.

Farrow didnt consider music or art as a career because he was afraid he would end up as a teacher, an occupation he didnt want.

Just as he was getting his bachelors in biology from Juniata College in 1961, details of DNA were emerging, even though research had been devoted to agriculture.

Farrow then went to West Virginia University, earning his masters and doctorate in human genetics in 1970. He spent a one-year fellowship as a genetic counselor at WVU, fielding questions from mothers in the regions hollows and researching drugs used in leukemia patients.

Genetics was an up and coming field and the more I got into it, I found it fascinating, he said.

Drug companies began studying how their drugs and chemicals affected human genetics. Farrow went to work for Wyeth in Philadelphia, creating its first genetics lab and conducting tests to determine the toxicologic effect of chemicals and drugs on bacteria, animals and humans.

Then the federal Environmental Protection Agency began researching the effects of pesticides on humans and contracted with research companies to set up testing procedures. Farrow left Wyeth for Washington, D.C., and got in on the ground floor of breakthrough government research.

He worked for several contractors, building genetics laboratories, developing testing protocols and researching the effects of pesticides and drugs on humans. He spent the last two dozen years of his career working to get drugs and chemicals registered for government controls.

Farrow retired in 2005 and decided five years later to return to Altoona to be near his siblings after his mother died.

He delved into history research, publishing his first book on all those movie theaters he had visited as a youngster. Now Showing: A History of Altoona and Blair County Theatres was published in 2013 and sold out in two months.

Then he took a month off before starting Altoonas Historic Mishler Theatre.

Farrow now works on myriad projects for the Blair County Historical Society and its Baker Mansion, as a board member, and researching historical venues and conducting lectures and tours, such as historical neighborhoods and churches.

The fourth-generation Lebanese-American also plans to write a history on the 100 or so families that immigrated from Lebanon and Syria to Altoona well over a century ago.

If you really love something that doesnt have a lot of opportunities, make it your hobby and make a living at something you love as well, he said.

That hobby, he said, also helps him support causes that he loves.

I like Altoona and all the arts. They need money, he said. How can I support them if Im not a millionaire? I can lend my talent. Plus I get a high finding the history and these little unknown tidbits that are fascinating.

Mirror Staff Writer Cherie Hicks is at 949-7030.

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Lab-grown humans soon – Times LIVE

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Cambridge University researchers mixed two kinds of mouse stem cell and placed them on a 3D scaffold. After four days of growth in a tank of chemicals designed to mimic conditions in the womb, the cells formed the structure of a living mouse embryo.

The breakthrough has been described as a "masterpiece" in bioengineering that might eventually allow scientists to grow human embryos without sperm or an egg.

Growing embryos would help researchers study the early stages of human life so they could understand why some pregnancies fail but the research is likely to raise questions about what constitutes human life.

Currently scientists can carry out experiments on embryos left over from IVF treatments but they are in short supply and must be destroyed after 14 days.

Scientists say that being able to create unlimited numbers of embryos in the lab could speed up research and perhaps overcome some of the ethical boundaries.

"We think that it will be possible to mimic a lot of the embryological development events occurring before 14 days using human stem cells," said the university's Magdalena Zernicka-Goetz, who led the research.

"We are very optimistic that this will allow us to study key events of this critical stage of human development without having to work on [IVF] embryos. Knowing how development normally occurs will allow us to understand why it so often goes wrong."

The embryos were created using genetically engineered stem cells coupled with extra-embryonic trophoblast stem cells, which form the placenta in a normal pregnancy.

Previous attempts to grow embryos using only one kind of stem cell proved unsuccessful because the cells would not assemble into their correct positions. But scientists discovered that when they added the second "placental" stem cells the two types of cell began to "talk to each other", telling each other where to assemble.

Together they eventually melded to form an embryonic structure, with two distinct clusters of cells at each end and a cavity in the middle in which the embryo would continue to develop. The embryo would not grow into a mouse because it lacked the stem cells that would make a yolk sack.

However, such work raises ethical questions about the "sanctity" of human life and whether it should be manipulated or created in the lab. Critics warn that allowing embryos to be grown for science opens the door to designer babies and genetically modified humans.

David King, director of the watchdog group Human Genetics Alert, said: "What concerns me about the possibility of artificial embryos is that this might become a route to creating genetically modified or even cloned babies.

"Until there is an enforceable global ban on those possibilities, as we saw with mitochondrial transfer, this kind of research risks doing the groundwork for entrepreneurs, who will use the technologies in countries with no regulation."

UK scientists will need to get permission from the Human Fertility and Embryology Authority before attempting to create human embryos using the technique, and experts have called for international dialogue before research can be allowed to progress.

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A mysterious medical condition gets a name – and a genetic link to deafness – Reading Eagle

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Special To The Washington Post.

He loves dancing to songs, such as Michael Jackson's "Beat It" and the "Macarena," but he can't listen to music in the usual way. He laughs whenever someone takes his picture with a camera flash, which is the only intensity of light he can perceive. He loves trying to balance himself, but his legs don't allow him to walk without support.

He is one in a million, literally.

Born deaf-blind and with a condition, osteopetrosis, that makes bones both dense and fragile, 6-year-old Orion Theodore Withrow is among an unknown number of children with a newly identified genetic disorder that researchers are just beginning to decipher. It goes by an acronym, COMMAD, that gives little away until each letter is explained, revealing an array of problems that also affect eye formation and pigmentation in eyes, skin and hair. The rare disorder severely impairs the person's ability to communicate.

Children such as Orion, who are born to genetically deaf parents, are at a higher risk, according to a recent study published in the American Journal of Human Genetics. The finding has important implications for the deaf community, said its senior author, Brian Brooks, clinical director and chief of the Pediatric, Developmental and Genetic Ophthalmology Section at the National Eye Institute.

"It is relatively common for folks in deaf community to marry each other," he said, and what's key is whether each of the couple has a specific genetic "misspelling" that causes a syndrome called Waardenburg 2A. If yes, there's the likelihood of a child inheriting the mutation from both parents. The result, researchers found, is COMMAD.

Because the disorder was only recently identified, there is much to learn about its impact over a lifetime. Brooks, who estimates that fewer than one person in a million is affected, has seen only a couple cases. Orion is one of them.

The study's finding made things clearer for Heather Withrow, Orion's mother. "It was more like an 'Oh, cool, that explains it!' kind of discovery," she said from Austin, Texas, where the family lives.

When Withrow was pregnant with Orion, she and her husband, Thomas Withrow Jr., suspected that he might be born deaf. While their daughter, 11-year-old Anastasia, has normal hearing, their other son, 12-year-old Skyler, is deaf. Then the results of initial imaging showed their third child would likely be born blind.

A subsequent MRI raised even more worries, suggesting that they were confronting trisomy 13, a chromosomal condition involving devastating physical abnormalities. Her doctor recommended the pregnancy be terminated.

"We just closed that discussion quick," Withrow recalled through an interpreter. "It is sad when people think, 'Oh well, he is going to be disabled so go ahead and end his life.' It's in God's hands. It was not my decision to make, and it wasn't my husband's decision to make."

The couple started to educate themselves about deaf-blindness - a combination that magnifies the effects of each condition. They contacted resources such as Connections Beyond Sight and Sound, a Maryland-based project that helps parents of deaf-blind children. A meeting with one of its specialists was empowering preparation. "It helped us. It let us know that we could celebrate and be happy when he was born, and not be surprised," Withrow said.

Which is what happened. "We fell in love with him at first sight," she said. As she has described on a blog she writes, Orion was long and lean, "with snowy white hair and lashes, ice-melting smile, rich laughter."

Even though he could not see, Orion's right eye would occasionally react to bright light. At just several months of age, he had special prostheses similar to "jumbo" contact lenses - called shells - inserted over his eyeballs to allow the sockets to grow proportionally with his face. And he started physical therapy to improve his motor functions. By the time he was 18 months old, he was able to keep his head straight, his mother said.

COMMAD explains those problems and others, Withrow now knows. It stands for coloboma (a condition in which normal tissue in or around the eye is missing), osteopetrosis (abnormally dense bones prone to fracture), microphthalmia (small or abnormally formed eyes), macrocephaly (abnormal enlargement of the head), albinism (lack of pigment or more specifically melanin in the skin, hair, and eyes) and deafness.

COMMAD can affect Orion in unusual ways. His body clock keeps its own schedule, his mother said, making it difficult for him to distinguish day and night: "He would think it's morning outside at 2 a.m., and he would want to play at a time when we want to go to sleep."

Such differences sometimes wear down his parents. "Despite all that, everything we do with him and everything he learns is so worth it," Withrow said.

She frequently blogs about Orion's experiences - she calls her site "A Mom's Musings" - to help educate people about COMMAD and help other parents interact with deaf-blind children. At home, she and the rest of the family use a touch-based version of American Sign Language - teaching with objects such as a baby bottle, diaper and spoon - to communicate with Orion.

The caveat of the National Eye Institute's recent study is that knowledge about how to care for and interact with children who have COMMAD is still in its infancy, Brooks said. "We are trying to understand the best ways to listen to the children," he said.

For Withow, sharing knowledge is comforting.

"Orion's life is just as important as everyone else's," she said, "and we hope he has the same opportunities as others."

health-commad

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Keywords: deaf-blindness, rare genetic disorder, genetic mutation causing deafness, COMMAD, National Eye Institute

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A mysterious medical condition gets a name - and a genetic link to deafness - Reading Eagle

US Republicans expected to unveil healthcare bill this week – Reuters

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WASHINGTON Republican U.S. lawmakers expect to unveil this week the text of long-awaited legislation to repeal and replace the Obamacare healthcare law, one of President Donald Trump's top legislative priorities, a senior Republican congressional aide said on Sunday.

Since taking office in January, Trump has pressed his fellow Republicans who control Congress to act quickly to dismantle former Democratic President Barack Obama's Affordable Care Act and pass a plan to replace it, but lawmakers in the party have differed on the specifics.

Democrats have warned that Republicans risk throwing the entire U.S. healthcare system into chaos by repealing the 2010 law that was passed by congressional Democrats over united Republican opposition. Republicans condemn it as a government overreach, and Trump has called it a "disaster."

The aide cited progress in meetings and phone calls starting on Friday and lasting through the weekend involving House of Representatives Speaker Paul Ryan, Health and Human Services Secretary Tom Price, White House budget chief Mick Mulvaney, Trump domestic policy adviser Andrew Bremberg and others.

"We are in a very good place right now, and while drafting continues, we anticipate the release of final bill text early this week," said the aide, speaking on condition of anonymity.

The aide called the expected bill a "consensus Republican plan," but offered no details.

AshLee Strong, a spokeswoman for Ryan, said: "We are now at the culmination of a years-long process to keep our promise to the American people."

The Obamacare law has proven popular in many states, even some controlled by Republicans, and it enabled about 20 million previously uninsured people to get medical insurance, although premium increases angered some.

(Reporting by Susan Cornwell; Writing by Will Dunham; Editing by Peter Cooney)

When Paul Ryan, speaker of the U.S. House of Representatives, talks of social mobility, about helping struggling Americans move out of impoverished areas to give them greater opportunity, Shiva Daniels is the kind of person he has in mind.

WASHINGTON The White House budget director confirmed Saturday that the Trump administration will propose "fairly dramatic reductions" in the U.S. foreign aid budget later this month.

WASHINGTON Foreigners aiming for temporary jobs at high-tech U.S. companies will undergo a longer visa approval process after the Trump administration announced it will temporarily suspend expedited applications for H-1B visas.

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US Republicans expected to unveil healthcare bill this week - Reuters

Republicans to Introduce Health Care Replacement Bill This Week – NBCNews.com

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Republicans will introduce their much-awaited bill to repeal and replace the Affordable Care Act this week, a senior House Republican aide told NBC News on Sunday.

"We are in a very good place right now," said the aide, who asked not to be identified.

AshLee Strong, a spokeswoman for House Speaker Paul Ryan, R-Wisconsin, told NBC News: "We are now at the culmination of a years-long process to keep our promise to the American people."

A draft bill obtained by NBC News would repeal much of the current law, also known as Obamacare, within the next few years and set in place a Republican vision of health care.

The draft legislation would provide expanded tax credits and health savings accounts for individuals while reducing federal spending on tax subsidies and Medicaid and practically eliminating the employer and individual mandates to provide and carry health insurance.

It wasn't clear Sunday night to what extent the draft legislation, dated Feb. 10, may have changed in the last three weeks, but at the time, an aide to a House Republican said: "This is the bones of what's going to happen."

President Donald Trump met with health insurance chief executives at the White House last week to try to win their support for the Republican revamp.

Only 12 percent of Americans said they had a "great deal" or "quite a bit" of confidence in health insurance companies in a NBC News/Wall Street Journal poll in December. In contrast, 54 percent said they had "very little" or "none at all."

Under the draft bill, Americans who need assistance to buy health care would receive a tax credit with an option to receive it in advance on a monthly basis based on age. A person under 30 would be eligible for a $2,000 tax credit, while a person over 60 would be eligible for a $4,000 credit.

The measure would also create state-based high-risk pools for people who don't have access to insurance. The federal government would start providing $15 billion to help fund the high-risk pools next year, but the funding would decrease to $10 billion by 2020 and beyond.

And the legislation would greatly expand the use of health savings accounts, a tax-deductible way to buy health insurance, which has become a top Republican priority.

The largest funding mechanism would be a tax on the most expensive employer-provided health insurance plans.

The anticipated release of the plan follows a series of town hall meetings across the country during which angry constituents berated Republican lawmakers over health care policy, pouring particular scorn on the idea of tax credits and health savings accounts.

Some Republican senators have already threatened to vote it against it, including Rand Paul of Kentucky, who lambasted the bill-writing process as overly secretive last week.

"The only copy we've seen is from the media," Paul said. "Now we're told it's being classified and the hearing is like a security clearance hearing you have to have security clearance and permission and have to be on the committee to see the bill."

Making good on promises of "repeal and replace" has proven difficult for Republicans, since members of the party are divided on what a replacement should look like and how much it should cost. Republican leaders, meanwhile, have promised not to "pull the rug" out from under people who are covered by current law.

But the senior House aide told NBC News on Sunday that there was a large staff meeting at the White House on Friday to resolve outstanding issues, while heath care committees in Congress worked over the weekend to incorporate technical guidance.

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Republicans to Introduce Health Care Replacement Bill This Week - NBCNews.com

GOP congressman thinks poor people don’t want health care – The Grio

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In a recent interview with STAT, Rep. Roger Marshall (R-KS) says he is not on board with Obamacares Medicaid expansion because he is sure that some poor people simply dont want health care.

Just like Jesus said, The poor will always be with us, Marshall, a doctor and first-term congressman, said. There is a group of people that just dont want health care and arent going to take care of themselves.

Lev Facher who wrote the article, said that he pressed Marshall on that comment and the congressman shrugged.

The Medicaid population, which is [on] a free credit card, as a group, do probably the least preventive medicine and taking care of themselves and eating healthy and exercising. And Im not judging, Im just saying socially thats where they are, Marshall stated. So theres a group of people that even with unlimited access to health care are only going to use the emergency room when their arm is chopped off or when their pneumonia is so bad they get brought [into] the ER.

A Harvard School of Public Health study showed the opposite. It was published last summer and showed that the Medicaid expansion resulted in low-income families having better health and fewer ER visits.

Two years after Medicaid coverage was expanded under the Affordable Care Act (ACA) in their states, low-income adults in Kentucky and Arkansas received more primary and preventive care, made fewer emergency departments visits, and reported higher quality care and improved health compared with low-income adults in Texas, which did not expand Medicaid, according to a new study led by researchers at Harvard T.H. Chan School of Public Health, one summary of the study states. The findings provide new evidence for states that are debating whether to expand or how to expand coverage to low-income adults.

GOP moves to dismantle Education Department after confirmingDeVos

Other studies have found similar results.

Marshall seems much more concerned with those who come from higher economic backgrounds.

When discussing the hospital he had a hand in running he said, Our vision was that we would look more like a hotel with customer service that delivered five-star health care.

So our cafeteria looks more like a coffee shop than it does a sterile hospital dining room. We have bright windows everywhere, and outside of every window theres a garden. Thinking that healing is more than just a knife and a needle.

The STAT interview was set up to showcase Marshalls role in the GOP Doctors Caucus. The caucus has been described as a group of 16 lawmakers with health care backgrounds who have put themselves at the center of the effort to unwind the Affordable Care Act.

Trump has promised to repeal Obamacare and has taken steps to begin doing so. It has not gone as smoothly as he had intended however with plenty of pushback from Democrats and the American public.

Very few have gotten to see details about the replacement plan though the vote on it could come as soon as next week.

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GOP congressman thinks poor people don't want health care - The Grio

Healthcare sets tone for US Rep. Michael Burgess’ contentious town hall – Fort Worth Star Telegram

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Fort Worth Star Telegram
Healthcare sets tone for US Rep. Michael Burgess' contentious town hall
Fort Worth Star Telegram
Like other similar events across the country, most of the attendees at Burgess' town hall were upset over Republican plans to repeal and possibly replace the Affordable Care Act, former President Barack Obama's signature healthcare law. Almost no ...
Rep. Michael Burgess Hosts Contentious Town Hall on Health CareNBC 5 Dallas-Fort Worth
Obamacare supporters confront congressman at Flower Mound ...Dallas News (blog)

all 13 news articles »

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Healthcare sets tone for US Rep. Michael Burgess' contentious town hall - Fort Worth Star Telegram

What we know about the GOP’s healthcare bill – The Hill

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House Republicans are plowing ahead with their plan to repeal and replace ObamaCare, with committee votes likely next week.

While final legislation has yet to be unveiled, an outline and a leaked draft from last month give a general idea of where House Republicans are headed.

Their bill would dismantle the central elements of ObamaCare, including its subsidies to help people afford coverage, its expansion of Medicaid, and its mandates and taxes.

Democrats warn the bill would jeopardize coverage for the 20 million people who have gained it from ObamaCare, while Republicans argue the health law has failed and needs to be replaced with a less intrusive system.

Here are the main things we know so far about the GOP plan.

It is likely to cover fewer people than ObamaCare

Many Republicans acknowledge that their plan is likely to cover fewer people than the Affordable Care Act.

The GOP plan would provide less financial assistance to people, especially those with low incomes, through a tax credit. The GOP plan would also repeal the expansion of Medicaid, at least for people who are not already grandfathered in, starting in 2020. That expansion has provided coverage for about 11 million people.

The smaller tax credit and repeal of the Medicaid expansion, along with a broader plan to restructure Medicaid to cap federal payments, are likely to result in fewer people being covered.

No question, between the changes in Medicaid and the smaller tax credit for low income people in particular, its pretty clear that this bill would cover fewer people than the ACA, said Larry Levitt, a healthcare expert at the Kaiser Family Foundation.

Republicans say they are not trying to compete with ObamaCares coverage numbers, which rely in part on a mandate that forces people to buy coverage or pay a tax penalty.

Were not going to send an IRS agent out to chase you down and make you buy health insurance, Rep. Michael BurgessMichael BurgessWhat we know about the GOP's healthcare bill GOP takes heat for ObamaCare secrecy GOP Rep: Everyone should have accessible, affordable health coverage MORE (R-Texas), the chairman of the Energy and Commerce health subcommittee, said last month. If the [coverage] numbers drop, I would say thats a good thing, because weve restored personal liberty in this country.

It would provide less help to low-income people than ObamaCare

ObamaCare bases its tax credits on income, meaning that low-income people get extra help. The Republican plan, in contrast, would provide a tax credit based on age, with older people receiving more money.

A study from the Kaiser Family Foundation last week found that the average tax credit to help people buy insurance would be at least 36 percent lower in 2020 under a leaked House GOP bill or a previous plan from then-Rep. Tom Price (R-Ga.) than under the Affordable Care Act.

Avik Roy, a leading Republican health policy expert, wrote in Forbes that not adjusting financial assistance for income is a key flaw in the GOP plan.

It means that millions of highly vulnerable people those near the poverty line and those with poor health status will not receive enough in tax credits to afford the coverage they need, he wrote.

Republicans argue that giving more assistance to people with lower incomes is a disincentive to work and earn a higher income.

You dont get the implicit tax on making more income under the GOP plan, said Doug Holtz-Eakin, president of the American Action Forum.

It would seek to protect people with pre-existing conditions

The GOP bill would keep the ObamaCare protection that bans insurers from rejecting people with pre-existing conditions but with a twist.

Insurers would be allowed to charge people 30 percent higher premiums for one year if they have had a gap in their healthcare coverage.

The penalty for going without coverage would be administered by insurers.

It would let the states decide what insurance plans must cover

The GOP proposal would repeal ObamaCares federal requirements that insurance plans cover a set of 10 healthcare services, and instead give the power to states to decide which benefits a plan must cover.

Republicans argue that the ObamaCare requirements, known as essential health benefits, drive up the cost of insurance by mandating that plans cover certain items that not everybody wants, like maternity coverage. Democrats warn that repealing the requirements could leave people with skimpy coverage that does not cover important things like prescription drugs or mental health services.

Holtz-Eakin noted that without the essential health benefits, insurers would have more freedom to design a health plan that costs exactly the same amount as the tax credit.

It repeals ObamaCares taxes

The GOP plan would repeal all of ObamaCares taxes, including the Health Insurance Tax and the excise tax on medical devices.

The plan would be financed through a new tax on generous healthcare plans that people obtain through their employers. Right now, most employer-provided health coverage is exempt from taxation.

Some Republicans are uncomfortable with the idea, viewing it as a new version of the Cadillac tax on generous healthcare plans.

Other Republicans say the idea is just moving to equalize the tax treatment between people who get insurance through work and those who dont.

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What we know about the GOP's healthcare bill - The Hill

Progress 2017 Heritage Corner in 5th generation of health care – Sentinel-Tribune

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After numerous new buildings and expansions, Heritage Corner Health Care Campus is about as big as it will get.

But owner Mark Manley keeps the groundbreaking shovel in his office. Just in case.

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Progress 2017 Heritage Corner in 5th generation of health care - Sentinel-Tribune

Lindsey Graham says he doesn’t know what GOP health care plan is yet – The Denver Post

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CLEMSON, S.C. (AP) U.S. Sen. Lindsey Graham told a rowdy town hall in South Carolina that health care is going to change in the United States. Just dont ask him for details.

Can I let you in on a little secret? I dont know what the GOP plan is, the Republican Graham told the roughly 1,000 people who packed a theatre at Clemson University on Saturday.

He is still vehemently against a single-payer, government-run health care program saying it costs too much and doesnt provide choices. Instead he would like states to be able to choose whether to keep President Barack Obamas health care plan but with tax breaks to encourage the use of health savings accounts.

Many of Grahams proposals were met by boos and jeers in an audience that was more liberal than Graham appeared to expect.

I didnt know there were this many liberals in South Carolina, Graham joked about his birth state where just 41 percent of voters picked Democrat Hillary Clinton for president in 2016.

But Graham briefly won them back by promising to push for the health care debate to be held publicly. He said he was bothered that Republicans seemed to be making the same mistake Obama made: of coming up with a plan and trying to pass it quickly with as little discussion as possible.

Graham said he used the Affordable Care Act to get his health insurance in South Carolina shortly after it passed, and his deductible rose from $750 to $6,250 and his premiums quadrupled. Thats not health care. That is a redistribution of income, Graham said.

Graham has since moved to the militarys health plan, having retired from the Air Force, where he spent much of his three decade career serving in the reserves.

He asked the crowd if they wanted health care like him. When they yelled yes, Graham said then serve 33 years in the Air Force.

Graham and the audience did agree that insurers shouldnt be able to deny coverage for pre-existing conditions.

Graham covered a wide range of topics Saturday. All the audiences questions were placed in a bucket and randomly drawn, leading to five different queries on whether President Donald Trump should be forced to release his tax returns.

Graham supports a bill requiring presidential candidates to release their taxes starting in 2020.

We can subpoena his tax returns, Graham said of Trump today as the crowd roared.

Ill do that when there is a reason to, Graham followed up, grinning.

Graham said he believes Russia worked to influence the U.S. election in 2016 and is working to tip elections in Europe in 2017. He said they must be punished through sanctions.

The crowd cheered Graham when the town hall ended. Charlotte Holt said she appreciated his time. Some other congressmen in South Carolina have not held in-person town meetings.

Hes as close to a responsible senator as you are going to get in South Carolina, Holt said.

For the most part, the freewheeling Graham appeared to have fun. He stuck out his tongue at a woman who shouted out she didnt like the patriotic video he showed to start off his town hall. He repeatedly reminded the audience that elections have consequences and that he wanted Trump to succeed as president.

___

Follow Jeffrey Collins on Twitter at http://twitter.com/JSCollinsAP . His work can be found at http://bigstory.ap.org/content/jeffrey-collins .

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Lindsey Graham says he doesn't know what GOP health care plan is yet - The Denver Post

Trump Finally Admits He Has No Health Care Plan – Mother Jones

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President Trump has been promising a health care plan for months now. But when will we have it? Let's roll the tape:

January 15: "Its very much formulated down to the final strokes. We havent put it in quite yet but were going to be doing it soon."

February 5: "I would like to say by the end of the year at least the rudiments but we should have something within the year and the following year."

February 16: "We're doing Obamacare, we're in the final stages. So, we will be submitting sometime in early March, mid-March."

February 27: "We have come up with a solution that's really, really, I think, very good."

So we've gone from immediately to 2018 to mid-March to all done. Today, however, Politico reports that in reality, Trump has no plan at all: "His team has signaled to House Speaker Paul Ryan that they will embrace his health care bill next week, and aides hoped to get a marked-up bill ready."

Since the House bill is apparently what we're going to get, it's worth repeating something I wrote a few months ago. After describing both Obamacare and Ryancare in broad strokes, I noted that their foundations were basically the same:

If you haven't yet noticed what this all means, let me spell it out. The key parts of Obamacare and Ryan's plan are the same. They both (a) rely on private insurance, (b) require insurance companies to cover people with preexisting conditions, (c) encourage people to buy insurance continuously by penalizing them if they don't, (d) provide billions of dollars in federal subsidies to make insurance affordable for low-income households, and (e) rely on Medicaid for the very poorest.

As liberals have been pointing out forever, any kind of health care plan has to have three parts:

Sure enough, Ryancare has all those things, just like Obamacare. There are differences in the details, but those don't matter very much. What does matter is the difference in cost. Obamacare provides subsidies of about $100 billion per year, while Ryancare provides...something much less. We don't know exactly how much less yet, but certainly less than half of Obamacare, maybe as little as a quarter. This is what makes Ryancare useless, not its overall structure, which is fairly workable. The working poor and the working class can only barely afford insurance even with Obamacare's subsidies. They won't come close with Ryancare's.

But the rich will get a big tax cut, and the middle class will get a nice break on their health insurance. In short order, however, interstate deregulation will almost certainly lead to individual insurance becoming all but useless, and the individual insurance market will probably collapse fairly soon after that. Alternatively, it might collapse even before Ryancare goes into effect, as insurers bail out on Obamacare (why bother with it if it's just going away soon?) and conclude that they can't make money on Ryancare either.

See? It's not so complicated after all. I imagine this is what Paul Ryan has wanted all along.

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Trump Finally Admits He Has No Health Care Plan - Mother Jones

For Seniors and Their Caregivers Navigating Arizona’s Health-Care System, There’s No Place Like Home – Phoenix New Times

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Everything is wrong.

My hands dont work properly. I keep stumbling over my feet. I hear distant chatter, but cant make out whats being said. Im supposed to be doing something what was it again? Oh, right. Find a sweater, write a letter, set the table is that the right order? Shit. I cant see very well in here, even though the lights are on. I swear theres someone standing in the corner over there.

Ive been stumbling around an apartment at the Terraces, a senior-living facility, for several minutes now. I have virtual dementia, courtesy of something called Second Wind Dreams, a nonprofit that offers educational programs about aging. This one is called the Virtual Dementia Tour, and its meant to mimic the muddled commotion that demented people endure.

When I arrived, a nice fellow named Dannis gave me a pair of rubber gloves to put on, and then a pair of gardening gloves (one of them inside out) to wear over those. Scratchy inserts went into my shoes, and iPod headphones playing random sounds and a fuzzy radio broadcast were clamped over my ears. Dannis handed me a pair of dark glasses with round stickers over the lenses, and led me to the door of a Terraces unit.

Go inside, hed instructed. Find the tan sweater and put it on. Find the book and turn it to page 73. Set the table for four. Write a letter to your family and put it in an envelope. Locate the phone and call home.

After a while, I emerge in an ugly tan pullover, having arranged plastic flatware and paper plates, scribbled an angry letter (Dear Family, thanks for all your help caring for Mom!) and made a pretend phone call to my own house. It was simple work made unpleasant by the stuff in my shoes, the sight impairment, and the bulky dollar-store gardening gloves.

I get it, I say to Dannis as I peel off the gloves and the sweater. You want to demonstrate how hard it is for demented people to do stuff by altering my sensory abilities. But whats the bigger point?

Instead of answering, Dannis hands me a multiple-choice quiz. Questions include Are you relaxed? and Do people with dementia get the care they need?

At the bottom, an essay question asks, What will you do differently after the Virtual Dementia experience?

I scrawl, Drink rat poison! and head for my car.

Im only half kidding. Suicide seems like a better answer to old age than being shoved into a nursing home, a solution this virtual dementia sideshow is obviously promoting. The idea of keeping our elderly at home the term used in the elder-care industry is aging in place is one Ive found barely supported by anyone, including the agencies charged with making this option a reality.

Its difficult to qualify for Arizonas version of Medicaid, which requires that you be really sick and really broke before they offer strictly controlled and usually inadequate services. Veterans Administration benefits are also hard to come by, and once an old person secures either of these, theyre exempt from receiving services from any other agency.

And anyway, who wants to take care of their aged parents in the first place?

I certainly didnt. But Ive been caring for my 92-year-old mother, who has late-stage Alzheimers disease and whom I refer to as the Duchess of Pela, for going on 11 years now.

During that time, Ive learned just how badly the elder-care system is broken. Underfunded, it relies on an unreliable and mostly unskilled workforce of underpaid babysitters to look after people who want to live out their lives at home. And while the state appears to support this idea with various programs and agencies to finance and promote home health care, those programs and agencies are never enough.

That means that the rest of the work falls on schmucks like me. I maintain two full-time jobs and spend 55 caregiving hours each week to patch the holes in the leaky system of keeping my mom in the house where she has lived for the past 50 years.

Doing so has meant performing bureaucratic backflips while applying for the states version of Medicaid, then working with a case manager to supervise a program contractor who facilitates my relationship with the home-care service contractor who sends respite workers to care for my mother when Im not with her. Then theres training and managing those workers, who often dont show up or leave the agency without notice.

Last year, a study by the American Association of Retired Persons (AARP) estimated that more than 800,000 Arizonans are looking after a loved one rather than dumping that job onto an elder-care facility.

The average family caregiver is a 61-year-old female looking after someone 70 or older.

Sixty-three percent use their own money to help provide care, and 68 percent modify their work schedules to accommodate a caregiving plan. According to the study, 87 percent of these people support a proposal that would provide short-term help from a home health aide so they could take a break.

Id like to ask the 13 percent who didnt support the proposal if its because they know theyll likely have to jump through fiery hoops to get that short-term help.

And then I guess Id want AARP to explain just how short-term that short-term help might be. Would this home health aide be trained to care for old, demented people? Could I have the same person each time, so I wouldnt spend a chunk of my time off training a stranger about my mothers needs, and the rest of my respite worrying that this latest stranger isnt up to the job?

Because thats how in-home care tends to work. After beating our brains out on a rock to qualify for financial assistance, those of us looking after loved ones typically wind up spending that assistance in a profoundly unreliable system.

After stumbling through my virtual dementia experience, I head back to my mothers to meet LoCretia, the latest trainee sent by the caregiving agency the sixth such agency Ive hired in two years to sit with the Duchess twice a week. When I introduce them to one another, my mother beams.

Are you half of that other girls spoon wrangler? the Duchess inquires of LoCretia. Her name was Donald and she flew coach.

Her Majestys new caregiver turns to me. Do she always talk that way?

Often, I reply. Have you worked with dementia patients before?

Yes, LoCretia assures me. Thats that thing where they forget stuff, right?

While my mother and her new caregiver become acquainted, I phone the publicist at Second Wind Dreams.

I think youre taking advantage of people with your virtual-dementia thing, I tell him. Youre trying to scare us into putting our loved ones into care facilities. Do you get a kickback from the Terraces for every room they rent after you frighten people?

He swears they dont, but hes dodging my question about the purpose of a virtual-dementia tour.

Are you trying to prove that our loved ones with dementia shouldnt live alone? I persist. Or do you just want us to know that its hard to set the table when youre wearing a polyester V-neck and cheaply made sunglasses?

He promises hell ask somebody and get back with me. He never calls back. When I go to transcribe the recording I made of my virtual-dementia tour, I discover Id left my digital recorder on pause the whole time. I have to re-create the entire experience from memory. Im too tired to enjoy the irony of this.

The Duchess of Pela on her 92nd birthday.

Todd Grossman

To be fair, no state budget is vast enough to offer round-the-clock home health care to those in need. The average payout from the Arizona Long Term Care System (ALTCS), our states version of Medicaid, is between 20 and 30 hours per week. Lower-income states, particularly those in the South, receive more federal funds. But because those dollars are stretched farther in poorer communities, the cost per case tends to be even lower than it is in Arizona.

Before becoming a caregiver, I suppose I thought my parents would live to be 100 and die quietly in their sleep on the same night, never having been especially sick.

Or maybe I thought when they were no longer able to care for themselves, theyd move into a nice, clean facility where theyd receive loving attention from smiling nurses who felt a calling to look after the elderly. This wonderful place, I suppose I surmised, would be paid for by Medicare and Medicaid, by insurance policies and Social Security and maybe part of Dads monthly pension check. There would be lap blankets and ceramics classes and soft food prepared by a friendly dietitian. Probably thered be shuffleboard.

I dont know what I thought. But heres what Ive come to know: The average old person dies within a year of admission to a nursing home, according to a 2015 study by the Journal of the American Geriatrics Society. The lousy facilities and there are a lot of them cost about $7,000 a month per person, and the better ones typically dont accept payment from either Medicaid or extended-care insurance policies, which usually only pay a percentage of rent, anyway. Even the places that do take these forms of reimbursement only keep a small percentage of beds for clients who arent paying cash.

If she werent demented, the Duchess wouldnt approve of me giving up my old life to care for her in her home. She wouldnt like that my husband has taken a second job to help pay her bills. But according to that JAGS study, she would have died a decade ago if we hadnt.

On good days, Im proud of having prevented that. But most of the time, Im unhappy there isnt more support for people who choose to keep their loved ones at home. I worry about what will happen if our new president makes good on his promise to dismantle the Affordable Care Act, which may affect the Duchesss health coverage. Im angry that my very large family has refused to pitch in. The rest of the time, I try to keep a sense of humor about the mess Ive gotten myself into.

Youre never going to die, are you? I ask the Duchess one night as I help her dress for bed. Im going to be stuck here forever, changing your diapers and baking you quiches.

She has six or seven new pinch-chickens, replies my mother, whos been speaking mostly in third person for several months now. Why does she eat with the shades drawn?

Maybe she likes to dine in the dark, I reply, leading her to her bed with the safety rails that keep her in at night.

Where is her husband? she asks about my father, dead three years now. Whens he coming home?

Hes gone to Poughkeepsie, I tell her wearily. Hell be back last Tuesday.

Ive gotten good at entertaining myself with silly responses to my mothers demented questions.

If only my own questions were so easily answered. Like, What are you supposed to do if youre not wealthy and dont want to put your mom into a nursing home? And Is this as good as it gets?

For people who opt to care for our own family members, the answer to that last one is Pretty much, yes.

There are more caregivers in need every day. And many of them, overwhelmed by the lack of services and the financial and emotional strain of keeping loved ones at home, are ready to be talked into giving up altogether.

Its June, and my aunt has died. Ive traveled to Cleveland for her funeral.

My phone rings as Im trudging through Hopkins International Airport. Its a supervisor calling from the latest home health-care agency Ive hired to help me care for the Duchess.

Listen, Mercy Care didnt tell us you were leaving town and needed respite care, she tells me. We cant send someone over to cover your shift today until we do intake.

I close my eyes.

But Im in Ohio, I reply. And the shift I need covered begins in less than an hour.

Yeah, I know, is her cunning response.

I hang up and call my husband, who agrees to leave work and meet someone from the agency at my mothers house, where hell sign a bunch of forms and then stay to train the latest caregiver.

While were talking, I get a call from my new case manager at Mercy Care, the program contractor that approves the home-care services my mother receives. She says shes decided, after her most recent assessment, to withdraw a big hunk of those services. Because your mom is doing so much better than when ALTCS approved her two years ago! she announces, as if Im winning a nice prize.

I fall onto a bench in baggage claim. People dont get better with Alzheimers, I begin, trying to keep my voice calm. And I was there when you did that assessment. Remember? You spent a half-minute in my mothers company, and the rest of the time with me, discussing how dependent I am on these services. You said hello and shook her hand, and from that youve decided shes the first person in the history of the world to improve with Alzheimers disease?

Well, either way, she replies, shes getting the maximum number of home-care hours we can provide. And ALTCS wants us to trim everyones hours. So were taking six of hers.

She pauses for a moment. Have you thought about placing your mother in a facility?

I occasionally awaken from nightmares in which Im being chased by a box of ALTCS forms.

People assume the worst part of caring for my mother is that she rarely recognizes me. Or that Ive emptied out my savings account and busted my retirement fund to keep her home. Or that I have to change her diapers several times a day.

They think these things are awful because theyve never applied for ALTCS. I have. Eight times.

The first five applications were declined because the Duchess wasnt demented enough.

Then, she wasnt poor enough.

Larry Shafer, public-benefits consultant with Dyer, Bregman, and Ferris PLLC: Theres no clear set of instructions for ALTCS applicants, and even smart, organized people sometimes just give up.

Courtesy of Larry Shafer

And always there wasnt enough evidence that she qualified for anything ALTCS offered. Id deliver a giant box of documents to the Arizona Health Care Cost Containment System (AHCCCS), which oversees ALTCS, and a month later one of their agents would call and say, We need three more bank statements, a letter from your late fathers last employer, and a receipt for that bottle of aspirin you bought in 1998.

By the time Id get these things together, my application had expired and I had to start over.

Amazingly, Arizona has it better than many other states when it comes to Medicaid programs for the elderly. Here, AHCCCS operates under a federal waiver program that exempts us from certain federal statutes and regulations prohibiting in-home care services to people who would otherwise be in a facility.

Prior to 1991, the federal Medicaid program only compensated those living in institutions. Today, that program has been broken into two federally funded parts: ALTCS, which provides financial services to fixed-income seniors and disabled people, and the ALTCS Acute Care Program, for low-income families who need short-term assistance.

Folks shooting for ALTCS work their way through a complex list of more than 50 demographic categories age, income, sickness, current assets hoping to qualify under any of these. While some populations are covered by all states, not everyone is covered under the same circumstances, nor for the same services. As a result, an old lady eligible in one state might be ineligible in another.

In a recent report from the Kaiser Family Foundation Commission on Medicaid and the Uninsured (which refers to Medicaid as lofty in its goals but often miserly in its actual impact on people), 60 percent of Americans who need assistance arent covered by Medicaid.

Arizona ranked among the top 10 states with the toughest eligibility requirements. And on the State Long-Term Services and Supports Scorecard, Arizona placed 21st out of 50 states, based on low scores in affordability, access, and quality of care. (Minnesota tops the list for elder-care assistance.)

Ultimately, ALTCS benefits the state, not the patient or his caregiver: Arizona has figured out how to keep its Medicaid budget neutral by relying on unpaid help by family members while providing them with a minimum of assistance.

What I needed was something more than minimum assistance in order to keep my mother in her home. Medicare provides her primary insurance with separate plans for doctor visits, prescription coverage, and hospitalization. Her grossly expensive and completely useless extended-care policy, which routinely reduced its benefits, repeatedly denied my claims, and socked the Duchess with double-digit annual rate hikes, covers nothing if she lives at home.

And so, in order to qualify for ALTCS, I spent every penny my parents had. I hired $40-an-hour respite workers, which allowed me to go home each day at 3 p.m. and which emptied out savings accounts into which my folks had been stashing money for 67 years.

Once they were broke, I applied for ALTCS, an agonizing process that required hundreds of hours of financial-record gathering and a seemingly endless series of forms that needed filling out. After two years and seven rejected applications, during which time my father died without ever having received benefits, ALTCS came through with what amounted to a little more than two days worth of home health-care coverage each week.

Thats generous, I am told, by ALTCS standards. The other five days each week are up to me.

After qualifying for ALTCS, I selected from a list of three program contractors, which are sort of a cross between an insurance company and a grouchy step-uncle whos stuck babysitting you.

The Duchess was assigned a case manager who decided how many hours per week she needed in order to be cared for in her home a total figured on a per-task, minute-by-minute basis.

Her Majestys case manager sized her up and decided it should take no more than 17 minutes to shower her, so thats how many minutes I got in the bathing category. The Duchess was given 15 minutes of paid assistance each day at breakfast.

But she likes two four-minute eggs, I explained to her case manager. And a good cup of tea should steep for at least 10 minutes.

Try serving her coffee, she replied. Maybe an omelet.

Case managers have to be stingy; theyve only got so many home-care hours to dole out. The paltry amount my mother receives, Ive been told, is the most I can hope for. When she gets worse, Ill have to work more hours caring for her than I already do.

Why? I demand of Larry Shafer, a public-benefits consultant with Dyer, Bregman, and Ferris PLLC, a local elder-care firm. Why do they make it so difficult? Theyre there to help people! Do you know that when my mother dies, Im supposed to give her house to ALTCS, in return for the services they provided?

Shafer knows. He used to work in the AHCCS eligibility department, and his first experience with ALTCS was helping his grandmother qualify for the program back when he was still in college.

Its frustrating, isnt it? Theres no clear set of instructions for ALTCS applicants, and even smart, organized people sometimes just give up. But the process is difficult because the state has to make its ALTCS money last. Those state and federal guidelines are in place to make sure the people who are entitled to this program are the ones receiving it. As a taxpayer, I applaud that. As an advocate working with people trying to qualify for ALTCS, I feel your pain.

Larry tries to tell me about the ALTCS family caregiver program, which pays people a pittance to look after our loved ones, but I interrupt him.

Im on it, I tell him. I took the certification class. They taught me how to wash my hands and how to tell if my mother is dead or just sleeping. The guy who sat next to me talked on his phone the whole time and the instructor spent more time discussing which pizza place we could order lunch from than she did teaching us CPR.

At the end of the day, we were given a 100-question open-book test, I tell Larry. The real lesson was why so many of the caregivers Ive employed are terrible at their jobs: An orangutan could pass this class, which is the only official training these home health-care workers receive. I use the income from the program to pay for a revolving door of respite workers, so I can occasionally go home for a few hours.

Larry chuckles politely. I know how frustrating being a caregiver can be.

I hear that a lot, and I understand that people mean well when they say it. I like Larry, so I leave him alone. But what I want to say is, No, you dont. You couldnt possibly know what being a caregiver is like unless youve done it.

Were a secret society. We recognize one another in grocery store aisles or in line at the bank. We exchange long, meaningful looks of encouragement, nod weary heads in silent greeting. Its not our fatigue that marks us as members of an invisible group. Its the old person by our side, or in a wheelchair in front of us, that gives us away to one another.

Like clumsy spinsters, were forever being paired up by well-meaning pals.

Oh, you have to meet my friend Dave, someone will say to me. Hes taking care of his mom, too.

Or Ive given your number to Lucy; her husband has dementia. You two should talk.

Suzette Armijo, co-founder of Central Phoenix Advocates for Dementia Awareness, with her grandmother in 2012.

Courtesy of Suzette Armijo

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For Seniors and Their Caregivers Navigating Arizona's Health-Care System, There's No Place Like Home - Phoenix New Times

At forefront of digital healthcare revolution: Discovery Health helps reinvent way medicine is practiced. – BizNews

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The digital revolution is changing the way doctors work. Within the next few years, doctors workloads will be reduced, healthcare costs will be slashed, and diagnoses will be faster as the digital healthcare innovation reinvents the way medicine is practiced. Billions of rand will be saved as advances in technology are embraced by the medical fraternity. The new technology will empower patients to take responsibility for their health. This is not science fiction; its a growing reality. People are already able to wear a device that monitors their activity, checking how much exercise or sleep theyre getting. They can swallow tiny devices that monitor the gut biome, stress levels, insulin levels and transmit valuable data to their doctors who can make early diagnoses of potential health risks. More than a decade ago, Google was a search engine and Amazon was an online book store. Now they are at the forefront of the revolution in digital healthcare with their data-rich innovations that enable doctors to discover patterns and causes of diseases. In South Africa, Discovery Health has embraced the changes in technology and uses its own Vitality member data to advance this new approach to medicine. David OSullivan spoke to Deputy CEO Ryan Noach about Discovery Healths initiatives.

Ryan, what are we talking about when we speak about digital healthcare, whats that all about?

Much like many other industries around the world, David, the world of healthcare is being completely revamped by some of the innovation in the digital sector. Right across the healthcare chain were seeing majorly exciting developments that are just changing the way we diagnose and treat disease, the way patients interact with doctors, and the way medical records are stored. To be honest, my view is that healthcare has been too slow to embrace some of these trends, but Im quite sure that in years to come the way healthcare is going to be delivered will look different and be practiced differently than it is today.

My initial assumption was, if were talking about digital healthcare, it meant going onto the internet and diagnosing myself with whatever illness might prevail. I thought that might be dangerous, but its not doing that is it, its using technology to empower patients. Flesh it out for me Ryan, what is it that patients use, how does the technology work to give doctors the correct data to help them with an accurate diagnosis?

Well, the consumer element that youre talking about is very popular and becoming more and more popular, and there are a large number of online sources of medical information that consumers use every day. Ive heard doctors talking to each other saying to patients, Dont confuse your Google search with my medical degree, which is said in jest, but actually there is this consumerism happening around the world where consumers (and we believe strongly at Discovery), should become much more proactive about their healthcare. Healthcare is unfortunately a situation where theres a real asymmetry of information. The patients are generally not well-informed; its a complex situation and they frequently are scared.

The doctors are typically very well-informed and so digital healthcare is crossing some of this divide and ensuring that there is much better symmetry of information, and that patients have reliable information at their fingertips. One of the things were seeing is the evolution of artificial intelligence which is already changing doctors jobs. Today, patients search online for answers, but artificial intelligence that uses very smart cognitive engines that have ingested huge volumes of data in the background can provide you with an accurate answer with very high confidence intervals. At Discovery were investing in one such service, which we will provide to Discovery members later this year.

This artificial intelligence engine is supported by many thousands of doctors around the world and we hope by many thousands of doctors in South Africa, which is able to answer a range of questions with a very high confidence interval. So certainly that is one part of it, but the other part of it that you were asking about is how does it help doctors make diagnoses? At the most simple level we see that central to a good diagnosis is having all the information at your fingertips. Electronic health records which have centralised the recording of all clinical data in one place and given the doctors via their smartphones, their tablets or web access, immediate comprehensive clinical history for the patient theyre treating, is extremely powerful in and of itself. We see anecdotes. Discovery Health ID is an application that does this for doctors.

We have 2,200 of our doctors using it every day in their practices and we see anecdotes every day of how this changes doctors practices. Ill give you some concrete examples just to make it real. A dermatologist told us recently that a rash that he had been unable to diagnose, when he looked at the electronic health record on Health ID, he recognised that in fact, the timing of the rash was related to a medicine, a drug prescribed by a doctor which the patient had forgotten to tell him about. He was able to immediately link the rash to the medicine, and attributed it to an adverse drug interaction and resolved that situation. Sometimes there are far more serious circumstances.

We heard of an anaesthetist recently who was about to put a child to sleep for a simple anaesthetic and looked at the Health ID record on the Discovery Health ID platform and found that there was a critical cardiac defect that this child had that the mother had in her anxiety about the procedure completely forgotten to tell the anaesthetist about. It changed the way he delivered the anaesthetic. So from the relatively minor to the seriously important interventions, this centralisation of records is critical.

Weve seen three waves of digital innovation in healthcare. The first starting in the early 2000s was driven by the availability of 3G and devices becoming much more portable. This enabled telemedicine, where one was able to get a consultation remotely which has certainly changed the way doctors have delivered care and consultations in remote places. The second wave, which started around 2010 or just before, really related to the electronic health records that I have been talking about. Were right in the teeth of the third wave of digitisation now, which is much more about empowering the consumer. Its about using Big Data to find disease inflection points, where diseases are going to get worse, where patients are at risk on a personalised basis. It is about combining health risk factors with genetic information to understand an individuals risk profile and using artificial intelligence to support diagnostics, and then connecting the doctor and the patient to each other in a very seamless and portable way.

Im also impressed with the technology thatll empower patients to take responsibility. The wearable or even ingestible automatic devices that monitor and transmit relevant information, tell me a bit more about that.

This term has been coined, the quantified self and patients are really able these days (I shouldnt say patients), people are really able these days to measure everything about themselves. I wear a wearable device every day, I measure how many steps I take, I look at my heart rate through the day, I measure the intensity of my exercise and these wearables are advancing to be able to measure stress, to track your sleep, to track all aspects of your behaviour and we really are able to quantify everything around ourselves through these sophisticated sensors.

As you say, they have advanced to the point where now there are ingestible sensors too. You swallow a pill, its a smart pill and its able to make all sorts of measurements and readings inside your intestines and transmit that through Bluetooth or another mechanism to a device externally and so you can make diagnosis from the inside out. Ultimately, our view is that this quantified self-environment, all these different measures will be combined with genetic measures or precision medicine to really personalise healthcare. Itll mean that for a particular individual, your own personal physiology which is being measured, your own personal diagnostics in the context of your genetic makeup will really mean that you can get a personal healthcare tailored solution to your particular risks and needs.

In South Africa, do the medical aid schemes keep pace with the technology; do they understand that, does the council for medical schemes understand what is happening with increased digitisation around the world?

I think everybody in the healthcare sector is feeling this digitisation and its impossible to hold it back. Its being thrust upon us and consumers are adopting it broadly everywhere. I can only speak for Discovery and at Discovery weve really embraced these technology trends in a large way. Weve delivered Discovery Health ID for four years now. Over the four years its been a hard process of changing the way doctors consult with patients to get them to use a digital interface as part of the consultation process. But as I said earlier were now seeing doctors very engaged and more than 2,000 of them are using it every single day and a large number are using it intermittently. It really means results at their fingertips. So in terms of that second wave weve been successful.

From the quantified-self perspective, our Vitality Active Rewards Benefit, which uses the Apple watch as the wearable device (which you can get for free on a fully funded basis if youre continually active), has meant that weve seen a huge number of people, 300,000 of our members in a very short space of time actively measuring and tracking their physical activity, and being incentivised through weekly rewards that we offer to meet targets. Weve seen a precipitous improvement, (way beyond what we actually ever expected, to be frank), in the activity levels of these members. Weve seen on average, a 24 percent increase in the activity levels of all Active Rewards members and for those wearing the wearable device, the Apple watch in our context, their activity has increased by almost 80 percent.

Tell me about the investment in DNA sequencing. I see that in the United States it received R55bn in funding last year alone, thats a phenomenal amount of money. It seems that people can send saliva samples for analysis to quantify their genetic susceptibility to a wide range of diseases. Is that something that is encouraged here in South Africa?

Yes, its a rapidly evolving side of medicine and I think if I were back at medical school today that would probably be the field I would want to choose as the explosive growth field. Just over two years ago we were nowhere near as advanced as we are today. There are two things happening. Firstly theyre recognising more and more of the important sites within the genetic DNA. Within the DNA makeup that are relevant sites in respective diseases and risk factors, and so this is a big mapping exercise of millions and millions of data streams to try and find exactly which part of your genome, your genes are responsible for a risk or a health issue. The second part of it is that because its becoming so commoditised its becoming much more affordable. Therefore, we have more information thats more accessible and you can imagine what that means for diagnostics and for interventions.

In many parts of the world now its routinely screened. In South Africa, thats not the case yet its certainly not routine. There are very few sites (two that I know of in South Africa), that are able to sequence the full genome (in other words, the mapped out portion of the DNA) and they are still for research purposes. They are not being used commercially yet, so most of the sequencing in South Africa is actually being done overseas where a full exome sequence is required. In oncology medicine the treatment of certain tumours is now very closely linked to the genetic makeup of those tumours and so it has become routine, including in South Africa to do genetic analysis of many of the tumours for cancer treatment plans.

So for somebody who wants to embrace the technology, is the Apple watch one of the fundamental starting points?

Well, it doesnt have to be the Apple watch. Weve partnered Apple as a leading technology supplier, but we do partner with other wearable suppliers too.. Our data demonstrates a material improvement in physical activity and engagement in physical activity, or understanding of what your body is doing and needing through the use of a wearable device. So I would say, get on the train and join this quantified-self world, get a wearable and track your behaviour day-to-day.

Wheres the best place to get information, the Discovery website?

The Discovery website certainly the Active Rewards Page has a lot of information about this and if you go to a reliable Google site and you Google wearable devices, theres a fortune of information there.

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At forefront of digital healthcare revolution: Discovery Health helps reinvent way medicine is practiced. - BizNews

Gene Therapy – Abeona Therapeutics

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Gene therapy is the use of DNA as a potential therapy to treat a disease.In many disorders, particularly genetic diseases caused by a single genetic defect, gene therapy aims to treat a disease by delivering the correct copy of DNA into a patients cells.The healthy, functional copy of the therapeutic gene then helps the cell function correctly.

In gene therapy, DNA that encodes a therapeutic protein is packaged within a vector, often a naked virus, which is used to transfer the DNA to the inside of cells within the body. Gene therapy can be delivered by a direct injection, either intravenously (IV) or directly into a specific tissue in the body, where it is taken up by individual cells. Once inside cells, the correct DNA becomes expressed by the cell machinery, resulting in the production of therapeutic protein, which in turn treats the patients disease and can provide long-term benefit.

Abeona is developing next generation adeno-associated virus (AAV) gene therapies. Viruses such as AAV are utilized because they have evolved a way of encapsulating and delivering one or more genes of the size needed for clinical application, and can be purified in large quantities at high concentration. Unlike AAV vectors found in nature, the AAV vectors used by Abeona have been genetically-modified such that they do not replicate. Although the preclinical studies in animal models of disease demonstrate the promising impact of AAV-mediated gene expression to affected tissues such as the heart, liver and muscle, our programs use a specific virus that is capable of delivering therapeutic DNA across the blood brain barrier and into the central nervous system (CNS), making them attractive for addressing lysosomal storage diseases which have severe CNS manifestations of the disease.

Lysosomal storage diseases (LSD) are a group of rare inborn errors of metabolism resulting from deficiency in normal lysosomal function. These diseases are characterized by progressive accumulation of storage material within the lysosomes of affected cells, ultimately leading to cellular dysfunction. Multiple tissues ranging from musculoskeletal and visceral to tissues of the central nervous system are typically involved in disease pathology.

Since the advent of enzyme replacement therapy (ERT) to manage some LSDs, general clinical outcomes have significantly improved; however, treatment with infused protein is lifelong and continued disease progression is still evident in patients. Thus, viral gene therapy may provide a viable alternative or adjunctive therapy to current management strategies for LSDs.

Our initial programs are focused on LSDs such as Mucopolysaccharidosis (MPS) IIIA and IIIB, also known as Sanfilippo syndromes type A and type B. MPS III is a progressive neuromuscular disease with profound CNS involvement. Our lead product candidates, ABO-101 and ABO-102, have been developed to replace the damaged, malfunctioning enzymes within target cells with the normal, functioning version.

Delivered via a single injection, the drug is only given once.

Originally posted here:

Gene Therapy - Abeona Therapeutics

Sickle cell anemia patient ‘cured’ by gene therapy, doctors say – FOX31 Denver

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In a world first, a teenager with sickle cell disease achieved complete remission after an experimental gene therapy at Necker Childrens Hospital in Paris, researchers say.

People with sickle-cell disease, a group of inherited blood disorders, have abnormal hemoglobin in their red blood cells, causing blood to clog in the tiny vessels and organs of the body.

After 15 months since treatment, the patient who began therapy at age 13 no longer needs medication, and his blood cells show no further sign of the disease, according to a case report published Thursday in The New England Journal of Medicine.

Since therapy was applied, he hasnt had any pain, any complications. He is free of any transfusions. He plays sports and goes to school, said Dr. Philippe Leboulch, an author of the new research and a professor of medicine at the University of Paris. So we are quite pleased with the results.

This success provides proof of concept for human patients, Leboulch said.

According to Dr. Marina Cavazzana, senior author of the study and head of the biotherapy department at Necker, all the biological tests we perform lead us to think he is cured. Yet, she added, the answer to the question of whether he is truly cured can be provided only by the longer follow-up.

Still, hopes are running high that patients with this very devastating disease can receive this therapy in the next five years, Cavazzana said. This is our hope, and we work very hard to attain it.

A global burden

Worldwide, more than 275,000 infants are born with sickle cell disease each year. In the United States, approximately 100,000 people, most of African ancestry or identifying as black, currently have it. About one in every 365 black children in the US is born with sickle cell disease, for which the life expectancy is now about 40 to 60 years.

Sickle cell disease is one of the most common gene disorders in the world, explained Leboulch. A genetic mutation causes hemoglobin, the main constituent of red blood cells, to distort the shape of the cell, and this causes the blood to aggregate or clog.

This leads to tremendous pain, anemia and also lesions of organs that ultimately result in shortness of life expectancy, Leboulch said. So what we did here was, we tried to inhibit the process of aggregation.

Essentially, researchers extracted bone marrow from the patient, harvested the stem cells and altered the genetic instructions so that they would make normal hemoglobin. Next, they treated the patient with chemotherapy for four days to eliminate his diseased stem cells. Finally, they returned the treated stem cells via an IV into his bloodstream.

At that point, the new cells that were modified outside the body started to make new blood cells, and we hope this will be stable for the life of the patient, Leboulch said.

Before receiving treatment, the teen had terrible pain and needed blood transfusions, which required twice-yearly hospitalizations, Leboulch explained. His many complications included necrosis of the hip, which necessitated hip replacement surgery.

Hope for all patients

Going forward, the plan is to proceed through clinical trials and, if results are promising, make the treatment available to patients. Leboulch and his colleagues are using the same genetic therapy to treat a similar disease called thalassemia, another inherited blood disorder in which patients have less hemoglobin and fewer red blood cells than normal. Severe forms require regular blood transfusions.

Leboulch and his colleagues have global phase 2 and phase 3 trials for the thalassemia treatment underway in France, the US, Australia and Thailand.

For sickle cell disease, a companion trial in the US is underway. I understand that seven (sickle cell) patients have been treated already. Of course, the outcome is much shorter, and we dont have the results just yet, but its coming along, Leboulch said.

To apply this to a baby or a very young child should be at least as effective or more, he said. Doing it with older patients, who have had years of complications, could be more challenging.

Leboulch also noted that gene therapy is easier on patients than procedures requiring outside donors. Previously, hematopoietic stem cell transplant, which replaces a patients bone marrow with that of a donor, has proved an effective cure for some patients.

According to Dr. Alexis Thompson, president-elect of the American Society of Hematology, the majority of sickle cell disease patients do not have a sibling who would be an appropriate match for bone marrow donation.

Gene therapy holds promise because a patient serves as his own donor, and the risks are much reduced since theres no possibility of a mismatch, said Thompson, who was not involved in this research but is an investigator on a related gene therapy study.

I think this is a really very exciting advancement, she said, adding that if the results seen in France can be duplicated, this would provide for a new direction for patients who need a curative option.

According to Dr. Trish Wong of Oregon Health and Science University, the new study is truly amazing work proof of principle that a cure for this chronic, devastating disease is in sight. Wong was not involved in the new research.

Gene therapy offers hope for all patients with sickle cell disease, regardless of whether they have a bone marrow match or not, Wong wrote in an email.

Time is still needed to assess the success of this treatment and the possibility of later side effects, said Wong. But any patient with severe sickle cell disease will tell you that being able to live a life for even a year without medications or fear of pain or hospitalization is substantial.

Finally, Dr. Grace Onimoe of the American Sickle Cell Anemia Association noted that the life expectancy of a patients with sickle cell disease remains decades lower than that of the general population while children throughout the world continue to suffer. Onimoe, who was not involved in the new research, said, As more work continues in the area of gene therapy to enhance safety and reduce potential complications, we remain optimistic of the promise it holds.

Leboulch also feels very hopeful.

Now, we want to be cautious, of course, and we dont want to say that this is the cure for tomorrow or the next day for everybody, he said. At the same time, what weve observed is really convincing, and we just hope that we can move this along to make it available to patients.

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Sickle cell anemia patient 'cured' by gene therapy, doctors say - FOX31 Denver