Man arrested or planting mercury at Albany Med faces federal charges

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Martin Kimber

ALBANY The man already charged with putting mercury in food and on other places including the heater where it would be vaporized and inhaled in the Albany Medical Center Hospital cafeteria now faces federal charges.

U.S. Attorney Richard Hartunian said Martin S. Kimber, 58, of Ruby, faces charges of illegal disposal of a hazardous waste in a manner posing a danger of death of serious bodily injury to others, a charge more commonly referred to as knowing endangerment, and illegal storage and disposal of a hazardous waste without a permit.

The retired pharmacist was previously arrested by Albany Police, with help from FBI and Department of Health investigators, for tampering with a consumer product in the first degree.

According to the U.S. Attorneys Office, a search of Kimbers Ulster County home found he had 21 guns and literature reflecting a sympathy for domestic terrorism.

The cover page in one book, The Turner Diaries includes the phrase This book contains racist propaganda and The FBI said it was a blueprint for the Oklahoma City Bombing.

Investigators also discovered a Nazi swastika on the wall.

The knowing endangerment charge carries a 15 year maximum jail time and a fine of $250,000 or twice the gross loss to any victim. The storage and disposal of hazardous waste without a permit can lead to a maximum of five years in jail and a fine of $250,000 or twice the gross loss to any victim.

The mercury was found in some of the food in the cafeteria that was eaten by at least one person. That person was treated at the hospitals emergency room.

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Man arrested or planting mercury at Albany Med faces federal charges

Family starts fundraising to buy van for Lynn man suffering from ALS-like disease

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Home > News Family starts fundraising to buy van for Lynn man suffering from ALS-like disease Originally Published on Thursday, August 09, 2012 By Cyrus Moulton / The Daily Item

LYNN Patrick Cogan said he doesn't like to ask for help.

But two years after being diagnosed with a debilitating and degenerative neuromuscular disease called Friedreich's Ataxia, the Cogan family is seeking help raising money for a van and a service dog to help Patrick and money to help provide dogs for other families.

"The time is going to come when I do need help but I'm going to do as much right now as I can," Patrick Cogan said at his apartment on Wednesday. "The goal is to raise money for a van." He said he already has a service dog, which was donated to the family, "but (the trainer) doesn't get any federal funding and so whatever we can give back to them we will."

Cogan said he was diagnosed with Friedreich's Ataxia in December 2010. He said he and the family believed for years that another and more benign disorder was causing the pain in his feet, and balance and coordination problems that had bedeviled him since childhood. But he went to see a neurologist at Massachusetts General Hospital after suffering several falls. He recalled the neurologist's advice when she gave him the diagnosis.

"'Don't Google it,' the neurologist told me, and gave me one website to visit to learn about the disease," he said. "So I Googled it, and it scared the crap out of me."

Patrick's mother Helen Cogan described Friedreich's Ataxia as "the evil cousin of Amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease," which she said is a similar but more well-known - and well-researched - disease.

The Cogans referred to the disease as "life-shortening," and Patrick Cogan said most patients eventually succumb to heart disease or lung problems as a result of the disease.

Patrick said he is thankful he is not at that stage.

But the disease has begun to impact his life. He reports difficulty typing and texting - unfortunate since he just got an unlimited texting plan on his phone, he joked. He increasingly uses a wheelchair since he feels safer in public in a chair than when he is using a walker or arm crutches.

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Family starts fundraising to buy van for Lynn man suffering from ALS-like disease

Finding Parkinson's clue offers unshakable hope

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Lorraine Ho

Friday, August 10, 2012

Hope may be stirring for those suffering from an incurable brain disease that causes loss of muscle control.

Spinocerebellar Ataxia affects the cerebellum - a small but key region of the brain - killing nerve cells and triggering genetic diseases, such as Parkinson's and Huntington's.

SCA patients may suffer tremors, gradually lose fine motor skills, and have trouble keeping their balance or coordinating daily movements.

But a team of Chinese University researchers may have an answer to their suffering - as they have found exactly how the disease is triggered.

Toxic ribonucleic acids cause deterioration of the small brain by disrupting the production of proteins called ribosomes - claims the team's findings, published in the US journal Proceedings of the National Academy of Sciences.

"The lack of ribosomes eventually causes programmed cell death ... and leads to the development of SCAs," lead researcher and CUHK School of Life Sciences associate professor Edwin Chan Ho-yin said.

"In theory, therefore, finding a way to revive ribosome supply in patients suffering from SCAs may help in treating the disease."

The territory currently has about 300 patients with symptoms of SCAs, Chan said. DNA tests have shown a third to be confirmed cases.

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Finding Parkinson's clue offers unshakable hope

Man charged with leaving mercury in Albany Med cafeteria now facing federal charges

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Martin Kimber

ALBANY The man already charged with putting mercury in food and on other places including the heater where it would be vaporized and inhaled in the Albany Medical Center Hospital cafeteria now faces federal charges.

U.S. Attorney Richard Hartunian said Martin S. Kimber, 58, of Ruby, faces charges of illegal disposal of a hazardous waste in a manner posing a danger of death of serious bodily injury to others, a charge more commonly referred to as knowing endangerment, and illegal storage and disposal of a hazardous waste without a permit.

The retired pharmacist was previously arrested by Albany Police, with help from FBI and Department of Health investigators, for tampering with a consumer product in the first degree.

According to the U.S. Attorneys Office, a search of Kimbers Ulster County home found he had 21 guns and literature reflecting a sympathy for domestic terrorism.

The cover page in one book, The Turner Diaries includes the phrase This book contains racist propaganda and The FBI said it was a blueprint for the Oklahoma City Bombing.

Investigators also discovered a Nazi swastika on the wall.

The knowing endangerment charge carries a 15 year maximum jail time and a fine of $250,000 or twice the gross loss to any victim. The storage and disposal of hazardous waste without a permit can lead to a maximum of five years in jail and a fine of $250,000 or twice the gross loss to any victim.

The mercury was found in some of the food in the cafeteria that was eaten by at least one person. That person was treated at the hospitals emergency room.

Excerpt from:
Man charged with leaving mercury in Albany Med cafeteria now facing federal charges

Interim results of VITOBA™ (VImpaT® added to One Baseline AED) Study Presented at the 64th Annual Meeting of the …

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ATLANTA, April 26, 2012 /PRNewswire/ -- UCB today announced interim results from the VITOBA (VImpaT added to One Baseline AED) study, which showed that patients with less refractory partial-onset seizures treated withVimpat (lacosamide) C-V as add-on to monotherapy experienced seizure reduction. These data were presented today at the 64th annual meeting of the American Academy of Neurology (AAN) in New Orleans.

VITOBA is a six-month prospective, non-interventional study of the efficacy, safety and tolerability of lacosamide when added to a single AED in patients with partial-onset seizures. The study has a planned enrollment of 500 adult patients. This interim analysis included efficacy data for 99 patients and safety data for 109 patients.

The patient population in VITOBA reflects epilepsy patients treated in routine clinical practice. The majority of patients (73.4 percent) had received only 1-3 AEDs since diagnosis. The mean lacosamide maintenance dose was 250mg/day and the median was 200mg/day.

Compared to the overall VITOBA study population, patients treated with only one lifetime AED experienced the greatest benefit from add-on therapy with lacosamide:

Treatment emergent adverse events (TEAEs) included fatigue (11.9 percent), dizziness (10.1 percent) and convulsion (5.5 percent).

"While preliminary, this interim analysis is noteworthy because it reflects a real-world treatment setting and suggests the effect of adding Vimpat as an adjunctive therapy after initial monotherapy. These results need to be confirmed by the final analysis when the study concludes," said Matthias Noack-Rink, lead study author and Medical Affairs Director, Epilepsy, UCB Germany.

Vimpat is indicated as an adjunctive therapy for the treatment of partial-onset seizures in adults with epilepsy. The most common adverse reactions reported in pivotal trials and occurring in 10 percent or more of lacosamide-treated patients, and greater than placebo, were dizziness, headache, nausea and diplopia. Additional important safety information for Vimpat is available at the end of the press release.

About EpilepsyEpilepsy is a chronic neurological disorder affecting approximately 50 million people worldwide and 3 million people in the U.S.Anyone can develop epilepsy; it occurs across all ages, races and genders. Uncontrolled seizures and medication side effects pose challenges to independent living, learning and employment, so the goal of epilepsy treatment is seizure freedom with minimal side effects. More than 1 million patients in the U.S. continue to have seizures despite initial therapy, and more than 800,000 patients in the U.S. continue to have seizures despite treatment with two or more therapies.[1],[2]

About VimpatVimpat tablets and injection were launched in the US in May 2009 as an add-on therapy for the treatment of partial-onset seizures in people with epilepsy who are aged 17 years and older. Vimpat injection is a short-term replacement when oral administration is not feasible in these patients. Vimpat oral solution was launched in June 2010. The availability of the oral tablets, oral solution, and IV injection allows for consistent treatment in a hospital setting. The most common adverse reactions occurring in greater than or equal to 10 percent of Vimpat -treated patients, and greater than placebo, were dizziness, headache, nausea and diplopia. Additional important safety information for Vimpat is available at the end of the press release.

In the European Union, Vimpat (film-coated tablets and solution for infusion) is approved as adjunctive therapy for the treatment of partial-onset seizures with or without secondary generalization in patients with epilepsy, aged 16 years and older. Vimpat solution for infusion may be used when oral administration is temporarily not feasible.

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Interim results of VITOBA™ (VImpaT® added to One Baseline AED) Study Presented at the 64th Annual Meeting of the ...

Multiple Sclerosis Patients Find Improvement in Walking with BalanceWear®

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OAKLAND, Calif.--(BUSINESS WIRE)--

The first phase of the NIH study, Movement Ability Changes with Balance-Based Torso-Weighting (BBTW) in Multiple Sclerosis (MS), provided important results for Multiple Sclerosis patients suffering with balance and walking challenges. The study is funded by a National Institutes of Health Recovery Grant that was awarded to Samuel Merritt University (SMU) Physical Therapy Professor Dr. Gail Widener, PT, and Dr. Diane Allen at San Francisco State University to continue research into Balance-Based Torso Weighting (BBTW) and its effects on Multiple Sclerosis (MS) mobility challenges. The first phase of the study validates previous research funded by the National MS Society.

Physical Therapist, Cynthia Gibson-Horn, discovered that strategic application of small amounts of weight could counter-balance directional losses and dramatically improve stability in patients with MS, Parkinsons disease, stroke, TBI ataxia and other Sensory Based Motor Disorders (SBMD) during clinical applications. This discovery led to the development of the patented BBTW method, which has now helped hundreds of patients. The NIH funded research provides documented evidence of the efficacy of her clinical observations.

The first phase of the NIH study supplements other research into BBTW, the technology behind BalanceWear, which has been highly successful in improving mobility for patients with MS, says Steve Cookston, CEO of Motion Therapeutics, the company that manufactures BalanceWear. I have joined Cindy in numerous treatment sessions and I am always inspired when I witness the immediate improvement in someone who has spent years struggling to manage daily activities due to poor balance. Its a wonderful experience.

Gibson-Horn acknowledges that each case is different regarding the degree of improvement that can be achieved after being strategically fitted with BalanceWear. Some patients walk nearly normally with BalanceWear, she says. We can see immediately upon application if a patients balance has been corrected. Further, we now know that the improved stability provided by BalanceWear is helpful in increasing confidence, which can lead to improved success in physical therapy often accelerating results.

Balance-Based Torso-Weighting is an assessment and treatment method that results in a BalanceWear custom made, strategically weighted orthotic. BalanceWear is made to the exact specifications for the patients counter-balancing requirements, providing supplementary sensory information to the nervous system, and helping to improve balance and stability in all directions of movement. Clinically, patients with the following conditions have found balance and mobility improvement with BalanceWear - Parkinsons disease, Multiple Sclerosis, stroke, head trauma, brain surgery, osteoporosis, ataxia, Cerebral Palsy and dizziness.

Dr. Gail Widener at Samuel Merritt University in Oakland, California and Dr. Diane Allen at San Francisco State University will present their research at the 64 Annual Academy of Neurology April 26th and at the Consortium Of MS Centers annual conference on June 1, 2012.

For more information on BalanceWear, visit http://www.motiontherapeutics.com. Motion Therapeutics is a provider of therapeutic products designed to improve balance, stability and mobility in many disease states utilizing patented Balance-Based Torso-Weighting (BBTW) technology available in the patented BalanceWear Series mobility products. The companys products are designed to: accelerate the recovery and rehabilitation of adults and children with balance challenges; and, improve the mobility, confidence, and independence of individuals. Visit MotionTherapeutics.com to learn more.

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Multiple Sclerosis Patients Find Improvement in Walking with BalanceWear®

Cypress resident crowned Little Miss Wheelchair Texas

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With her sparkling tiara, polka-dotted dress and beaming smile, 8-year-old Alana Little, a second grade student at Moore Elementary School, looks every bit a princess, although her fairy tale cant be found in storybooks.

Alana or simply Lana, as she is known by her family and friends was crowned Little Miss Wheelchair Texas 2012 on March 24 at the Crowne Plaza in Houston, selected by the Miss Wheelchair Texas Foundation for her inspiring story.

That night at the gala, Lana got a very long standing ovation for her story, said Teri Little, Lanas maternal grandmother, who has helped raise the young girl since she was 16 months old. Lanas been through a lot. Shes a tough cookie, that one.

As the result of an extremely rare genetic disorder, worsened by the effects of drug and alcohol exposure in utero, Lana was diagnosed with ataxia-telangiectasia, or A-T, at 23 months. The disease combines the worst symptoms of muscular dystrophy, cerebral palsy, cystic fibrosis and immune deficiencies.

Those with A-T are 1,000 times more likely to get cancer. There are an estimated 500 children in the U.S. living with A-T today, but this number is too small for pharmaceutical companies to conduct research for a cure.

It attacks the cerebellum, and Lanas cerebellum has been destroyed by the disease already. If we were to let Lana walk, she would more than likely fall down immediately or wobble like shes drunk, Terri said.

Lana has relied on a wheelchair for part-time mobility since she was 2, primarily to cope with the excessive fatigue that sends her to bed by 5:30 p.m. each day. She made the transition to full-time wheelchair dependence this past summer.

As Little Miss Wheelchair Texas, Lana will make public appearances at Texas Childrens Hospital, MD Anderson and a special needs program with the National Dance Institute. Her year-long service will serve as a means to bring light to children living with paralyzing diseases like A-T.

We were just so happy for her and happy we were going to be able to educate more people about the disease, said Elizabeth Casey, Lanas aunt and part-time aide.

As part of her term with the crown, Lana and her family have started the I Can, Just Watch Me initiative, which seeks to spread an empowering message about the abilities, rather than the disabilities, of children with special needs. Children are photographed with a sign of the slogan, and the images are shared online along with the childs name, age and diagnosis.

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Cypress resident crowned Little Miss Wheelchair Texas

Make-A-Wish fulfills boy’s dream to see Disney’s Cars Land

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ANAHEIM Lucas Appleton wheeled himself toward the wrought-iron safety gate separating him from the ride he was about to experience Luigi’s Flying Tires, a personal hovercraft attraction in Cars Land.

As he watched the super-sized “flying tires” bumping and bouncing their way across an expansive arena, he inched his wheelchair closer and closer to the gate. It wasn’t long before his front wheels started drifting upward.

Lucas Appleton, 9, at left, with his brother William, 13, makes a funny face at his parents while waiting for Mater’s Junkyard Jamboree ride to start. Make-A-Wish made it possible for Lucas, of Grover Beach, to go to California Adventure’s new Cars Land attraction before it officially opened.

MINDY SCHAUER, THE ORANGE COUNTY REGISTER

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If you’d like to donate

Lucas Appleton’s family is raising money to buy him a service dog, expected to cost $12,000 to $15,000. To make a donation to the Lucas Appleton Trust Fund, which is being maintained at Rabobank in Pismo Beach, call the bank at 805-773-5255 and ask to speak with the branch manager.

“Not that close, buddy!” a ride operator cheerfully reminded the 9-year-old boy.

“He’s so excited,” said his mother, Cassandra, shaking her head as she warned him (again) to not do wheelies in line.

Lucas, who has a rare form of muscular dystrophy called Friedreich’s ataxia, was one of four kids with life-threatening illnesses who got to experience the new attractions at Disney California Adventure park Thursday through children’s dream-granting charity Make-A-Wish.

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Make-A-Wish fulfills boy's dream to see Disney's Cars Land

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Hunting Down My Son's Killer [Medicine]

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I found my son's killer. It took three years. But we did it. I should clarify one point: my son is very much alive. Yet, my wife Cristina and I have been found responsible for his death.

My son Bertrand has a new genetic disorder. Patient 0. To find it, a team of scientists at Duke University used whole-exome sequencing (a protein-focused variant of whole-genome sequencing) on me, my wife and my son.

We discovered that my son inherited two different (thus-far-unique) mutations in the same genethe NGLY1 genewhich encodes the enzyme N-glycanase 1. Consequently, he cannot make this enzyme.

My son is the only human being known to lack this enzyme. Below, I'm documenting our journey to the unlikeliest of diagnoses. This is a story about the kind of hope that only science can provide. (An open access article in The Journal of Medical Genetics contains the detailed results from ground-breaking experiment that diagnosed him.)

Aside from severe jaundice, Bertrand was normal at birth. For two months, he developed normally. At three months, his development had slowed, but it was "within normal variations." By six months, he had little to no motor control. He seemed, as we described it, "jiggly." Something was wrong.

Bertrand was eight months old when he met with his developmental pediatrician for the first timejust after our move to Utah. I was at my first faculty retreat on the day of his exam, and after it let out, I found a flood of voicemail and text messages from my wife.

My heart jumped. The pediatrician thought Bertrand had brain damage, so she scheduled an MRI for the following week.

The MRI showed an apparently healthy, normal brain. So, his case was escalated to a pediatric neurologist. The neurologist confirmed that he had a movement disorder, but his presentation was "puzzling": he had neither characteristic chorea nor ataxia.

The neurologist ordered a round of bloodwork. This was the first of dozens of blood draws to come. (We now send Bertrand's "favorite" phlebotomists holiday cards.)

The lab results reported only one anomaly: extremely elevated alpha-fetoprotein (AFP) relative to what it should have been for his age.

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Hunting Down My Son's Killer [Medicine]

Amazing Andrew: Graduation just another milestone

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Holding out his ring finger with the mechanical nonchalance of someone who gets pricked by a needle five times a day, Andrew Cabatingan's eyes widen at the momentary nip of pain.

It's 2:30 p.m. on a Tuesday afternoon, which means it's time for the diabetic Christopher High School senior to stop sifting through possible essay topics on carbon capture technologies or high volume water fracking. Andrews teaching aid, Ray Miranda, needs to check Andrews insulin levels.

I've been taking your blood so many times, you should consider me a vampire, man, jokes Miranda, leaning forward in his chair and fiddling with Andrews insulin pump.

The 44-year-old para-educator is Andrews constant companion during school hours, save for the daily half-hour breaks Miranda takes from 10:30 to 11 a.m., Mondays through Fridays.

Or, as Andrew puts it, he ditches.

After four years spent sitting through every class alongside Andrew at Gilroy High School and later CHS after it opened in 2009, I'm filing for divorce as soon as he graduates, Miranda retorts, sarcastically.

Todays commencement ceremony at CHS mark a milestone for the wheelchair-bound, legally blind 18-year-old whose severe neuromuscular disease which causes diabetes as a symptom hasnt stopped him from pursuing a higher education at UC Berkeley.

Recognized by his teachers as a brilliant pupil who rakes in straight As and always seems to be smiling (Andrews expression frequently relaxes into a big, pearly grin), the senior who loves the SpongeBob SquarePants cartoon and molecular environmental biology with equal conviction, rocks the paradigm for what can be achieved when life hands you a bucket full of lemons.

Andrew was diagnosed at the age of 6 with a recessive hereditary, degenerative condition called Friedreich's ataxia, which causes muscular incoordination, loss of balance, scoliosis, progressive damage to the nervous system, speech problems, diabetes, vision/hearing impairment and cardiac problems. Most people with Friedreich's ataxia die in early adulthood if there is significant heart disease, while others with less-severe symptoms live much longer, according to the American Academy of Neurology.

But despite the gradual loss of mobility and the inability to read on his own, he just gets it, said CHS finite math teacher Bob Santos, remarking on Andrews acute ability to process complex equations.

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Amazing Andrew: Graduation just another milestone

Searching for a cure

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BeeJay Acker-Hitta looked at Kiela, her 10-year-old daughter, uncertain of how to tell her she had Friedreichs ataxia, a disease that would overcome her body and eventually end her life.

Mom, do I have it? Kiela asked.

Yes, you do, answered her mother.

What does that mean? Kiela asked.

Tears streamed down Kielas face as she attempted to understand what the diagnosis meant for her future.

Twelve years later Kiela and Acker-Hitta have participated in countless fundraisers to raise awareness for the deadly disease, which has no treatments or cure. Kiela will be escorted by her uncle to the Ride Ataxia, a cycling fundraiser in Davis on May 5.

Friedreichs ataxia is a life-shortening, degenerative neuro-muscular genetic disorder that affects 1 out of 50,000 people in the United States. Symptoms include loss of coordination, fatigue, vision impairment, curvature of the spine, diabetes and heart conditions.

The mental capabilities of people with FA remain intact, although the progressive loss of coordination and muscle strength leads to motor incapacitation and the full-time use of a wheelchair.

Kiela started showing symptoms at age 6. She had cardiomyopathy, often referred to as heart muscle disease, which usually leads to heart failure. She started using a walker by the fifth grade and was wheelchair bound by middle school. After more than four years of testing at UC San Francisco, Acker-Hitta took her daughter to Shriners Hospitals for Children in Sacramento. After a muscle biopsy, a spinal tap and blood tests, Acker-Hitta received a phone call.

It was the worst day of my life.

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Searching for a cure

ViroPharma to Participate in Two May Healthcare Investor Conferences

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EXTON, Pa., May 2, 2012 /PRNewswire/ --ViroPharma Incorporated (VPHM) today announced that Charles Rowland, vice president and chief financial officer of ViroPharma, will present at the Deutsche Bank 37th Annual Healthcare Conference at 2:50 P.M. ET on Monday, May 7, 2012. The conference is being held at the InterContinental Hotel in Boston.

ViroPharma also announced that Vincent Milano, president and chief executive officer will present at the Bank of America/Merrill Lynch 2012 Healthcare Conference at 8:40 A.M. PT (11:40 AM ET) on Wednesday, May 16, 2012. The conference is being held at the Encore at the Wynn Hotel in Las Vegas.

ViroPharma's presentations will be webcast live for investors through http://www.viropharma.com and available for a period of 14 days following the conferences.

About ViroPharma Incorporated

ViroPharma Incorporated is an international biopharmaceutical company committed to developing and commercializing novel solutions for physician specialists to address unmet medical needs of patients living with diseases that have few if any clinical therapeutic options. ViroPharma is developing a portfolio of therapeutics for rare and Orphan diseases including C1 esterase inhibitor deficiency, Friedreich's Ataxia, and adrenal insufficiency; and recurrent C. difficile infection (CDI). Our goal is to provide rewarding careers to employees, to create new standards of care in the way serious diseases are treated, and to build international partnerships with the patients, advocates, and health care professionals we serve. ViroPharma's commercial products address diseases including hereditary angioedema (HAE), seizures and C. difficile-associated diarrhea (CDAD); for full U.S. prescribing information on our products, please download the package inserts at http://www.viropharma.com/Products.aspx; the prescribing information for other countries can be found at http://www.viropharma.com.

ViroPharma routinely posts information, including press releases, which may be important to investors in the investor relations and media sections of our company's web site, http://www.viropharma.com. The company encourages investors to consult these sections for more information on ViroPharma and our business.

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ViroPharma to Participate in Two May Healthcare Investor Conferences

Ataxia – Ataxic gait – Video

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04-11-2011 12:01 Amy has a diagnosis of spinocerebellar ataxia and lennox Gastaut Syndrome-Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right. Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs, and different ataxias are known to affect different regions within the cerebellum.

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Davis bike ride to raise funds for disease

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Hundreds of supporters are set to take part in a nationwide bike ride in Davis Saturday in an effort to raise funds -- and hope -- for a cure to Friedreich's Ataxia.

Friedreich's Ataxia is a debilitating, life-shortening degenerative neuromuscular disease typically affecting children and young adults, according to Megan Brewster of National Strategies Public Relations on behalf of the nonprofit Friedreich's Ataxia Research Alliance.

Ride Ataxia Norcal begins at 7:30 a.m. at the Veterans Memorial Center, 203 East 14th St. in Davis. The ride will offer 15-, 30- and 50-mile flat plus 55 and 68 mile hilly cycling routes on scenic country roads.

UC Davis graduate Kyle Bryant, founder and director of Ride Ataxia, was diagnosed with Friedreich's Ataxia at the age of 17.

He was told his abilities would deteriorate over time, would soon be in a wheelchair, would lose the ability to take care of himself and would likely die a premature death due to heart failure.

"That was a heavy load," said Bryant in a news release. "I was scared for the future."

During his junior year at UCD Bryant met a researcher who was studying the disease.

"It was the first time I was filled with hope," said Bryant.

The 2005 engineering graduate became a full-time employee of Friedreich's Ataxia Research Alliance in 2009.

Ride Ataxia cycling events across the country have raised invaluable awareness for Friedreich's Ataxia and funded more than $1 million in FA research

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Davis bike ride to raise funds for disease

Rare disease strikes family

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ALEXIA JOHNSTON

RARE CASE: Joanne Illingworth, 46, has NARP, a disease that attacks the nervous system. Despite its rarity, it is hereditary and her three siblings also contracted the disease.

Timaru woman Joanne Illingworth is likely to be one in a million, if not more.

Ms Illingworth, 46, suffers from neuropathy ataxia and retinitis pigmentosa (NARP), a disease that affects very few people in the world.

A report suggests the condition is so rare that its prevalence is unknown.

NARP, which is in the multiple sclerosis "family", attacks the nervous system, causing muscle weakness, numbness, tingling or pain in the arms and legs, and loss of balance and co-ordination.

Ms Illingworth had a normal start to life. As a young girl she would run around and play like other children.

However, at 13 all of that changed.

"I was sick in bed with the flu. I got out of bed and I collapsed on the ground because I couldn't feel anything." She was admitted to hospital, but then sent home without a diagnosis. It took another 17 years before she found out what she was suffering from.

Despite the rarity of NARP, it was to become a common condition in Ms Illingworth's family after her three younger siblings, including a half-sister, also contracted the disease, all within about three years of each other. Ms Illingworth was the first in the family to get the disease, a hereditary condition passed down by females.

Her brother has since died of NARP. Her two younger sisters live in Oamaru. The family does not know anyone else with the condition.

NARP affects people differently, depending on the severity of their case.

"It affects your eyes, your speech and I shake quite a lot," Ms Illingworth said.

Her life had been full of frustrations. People often assumed she was drunk because of the way she talked. Ms Illingworth had lost count of how many doctors she saw before getting a diagnosis, but she hoped her determination would inspire others.

Rare Disease Awareness Day will be marked tomorrow – leap day – one of the rarest days of the year. For more information about the day visit rarediseaseday.org.nz

- © Fairfax NZ News

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Rare disease strikes family

Cerebral Palsy: Diagnosis

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Ataxic cerebral palsy only affects 10 percent of those diagnosed with this condition, and it results in severely uncoordinated movements. Understand the characteristics of ataxic cerebral palsy with information from a family doctor and occupational medicine specialist in this free video on conditions and treatments.

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Cerebral Palsy: Diagnosis