James DeLine founded the Center for Special Children in La Farge to attend to the particular health needs of the Amish and Old Order Mennonite families in Wisconsin. The Center exists within the La Farge Medical Clinic, also started by DeLine, which is part of Vernon Memorial Health Care. Photo by David Tenenbaum
Editors note: A recent article in the Milwaukee Journal Sentinel reported on Dr. James DeLines work with the Wisconsin Amish community. This story describes how UWMadison and the Wisconsin Partnership Fund are helping the effort.
LA FARGE, Wisconsin There is no car in the driveway, neither phone nor electricity in the house. Handmade clothes dry on the line.
Its fall 2018, and La Farge physician James DeLine has brought us to talk with Barbara and Daniel Hochstetler, part of the large Amish population in Wisconsins Driftless Region.
Six of their 11 children live with siterosterolemia, an extremely rare disease that can cause joint damage, stroke or heart attack, due to accumulations of a plant-based fat akin to cholesterol.
DeLine has practiced family medicine in La Farge since 1983. In 2015 he started the Center for Special Children to care for Wisconsins large concentration of Amish or Old Order Mennonite people.
Rural doctors pride themselves on being able to treat a wide range of conditions in their patients, but DeLines practice brings him face to face with several rare genetic conditions that were present when the Amish and Mennonites immigrated from Europe to America and then Wisconsin.
And that, in turn, has brought DeLine into a close collaboration with specialists at the University of WisconsinMadison who have developed tests, and suggested treatments, for some of those conditions, including siterosterolemia.
Amish and Mennonite families avoid technologies that, they feel, would endanger the social cohesion that is key to their survival. Thus they do not own motor vehicles or use telephones or electricity in the home. Photo by David Tenenbaum
In quiet voices, DeLine and the Hochstetler parents recounted how they learned that the family carried a gene for the rare disease. Years previously, their son, Perry, had been seen at the La Farge clinic with painful arthritis and large lumps in his limbs. Later, when we discovered that a relative of his mother had sitosterolemia, DeLine explained, we thought back to this young man and with some searching, we found him, had gene testing done at UWMadison, and discovered that he too had the disease.
After starting medicine and changing his diet, Perrys elbow lumps began melting away, DeLine said. He has had no further arthritis, and his exercise tolerance has improved.
Eventually, with genetic testing at UWMadison, the mutation was diagnosed in six of the 11 Hochstetler children. Only then did Daniel volunteer that he had heart pain (likely just age catching up with me) during heavy exertion, was actually caused by a buildup of plaque in his heart arteries. After starting the same drug as his children, Daniel has improved, though he said he can still feel it once in a while if I exert myself.
DeLine has become an expert in the culture, family relationships, and medical needs of the Amish and Old Order Mennonites (sometimes called the Plain people).
Although their acceptance of technology is highly constricted by culture and religion, the Plain benefit from DeLines hybrid of 19th century rural doctoring with 21st century genetic medicine.
Chris Seroogy, professor of pediatrics at UWMadison, is a long-time collaborator in the effort to bring 21st century health care to Wisconsins Plain populations. Photo by Robert C. Thayer
The genetic work has relied on clinicians from the School of Medicine and Public Health, and on testing at the State Laboratory of Hygiene, both at UWMadison. The State Lab has already developed fast, low-cost diagnostic tests for more than 30 conditions afflicting Plain populations in Wisconsin.
Vanessa Horner, director of cytogenetic services and molecular genetics at the State Lab, said that once a test has been developed and validated, it becomes a clinical assay that must be performed in a certified laboratory such as hers. Its a highly regulated, rigorous testing environment.
Funding for these tests and related activities came from grants totaling $800,000 from the Wisconsin Partnership Program in the School of Medicine and Public Health. Addressing the health care needs of Wisconsin communities is a priority for the Wisconsin Partnership Program, said Richard Moss, chair of the partnership education and research committee.
This teams innovative and successful community-engaged research has resulted in increased newborn screenings and affordable genetic testing that have the potential to spare our states Plain families from fatal medical conditions and costly hospitalizations, added Moss, senior associate dean for basic research, biotechnology and graduate studies.
One newborn screening test created at UWMadison, for example, detectsmaple-syrup urine disease, whichprevents the normal breakdown of certain amino acids from food. Then, toxic byproducts attack the brain and other organsimmediately after birth.
According to Mei Baker, co-director of newborn screening at the State Laboratory of Hygiene, which developed the test, We make special arrangements for lab testing beyond regular working hours. The midwife collects a blood sample and a hired driver delivers it immediately to our lab. Six or eight hours after birth, we have the result, and the clinicians at Waisman Center advise the parents on an appropriate formula to avoid the symptoms.This service is free of charge, and you cannot do any better than that.
This team hauls logs and saw timber at the Hershberger family sawmill outside La Farge, Wisconsin. Photo by David Tenenbaum
Genetic diseases among the Plain arise from founder mutations that were present in the few Amish and Old Order Mennonites who immigrated to America in the 19th century. A second genetic bottleneck occurred among smaller groups that moved to Wisconsin, starting about a century ago.
Most of the genetic diseases he sees can be treated if not cured, DeLine said.
DeLines long and deep experience with many Amish families, and his anthropological knowledge of family relationships are part of his doctors toolkit.
So are home visits.
He talks about how helpful it is to see a child in the home environment, surrounded by siblings, grandparents, parents, said Christine Seroogy, a professor of pediatrics. Seroogy is one of several UWMadison colleagues who provide outreach clinical services with the Center for Special Children. Its been quite an experience, an honor, to take part in those home visits.
The characteristic homemade clothes of an Amish family hang just inside the back door. Photo by David Tenenbaum
Home visits were not part of my medical training, but its how doctors used to practice, and Jim DeLine still does, she added.
When Seroogy began working with DeLine in 2007, one focus was severe combined immune deficiency (SCID, or bubble boy) disease. Though fatal, SCID can be detected with newborn screening and in some cases treated with bone marrow transplant. Over the years, she has worked closely with DeLine, newborn screening experts at the State Laboratory of Hygiene, and Plain families to improve SCID diagnosis and treatment.
In many cases, a true diagnosis can keep patients out of hospitals and away from physicians who tend to order an endless series of costly tests that cause more trouble than healing.
When we must deliver news about a child with a lethal disorder, DeLine said, if the family knows whats going on, sad though it is, its a gift to the family to take the child home and care for them surrounded by their community and their family.
Its hard to treat something you dont recognize, understand, DeLine added. Each time a new condition is identified, the search for a cure can begin.
Share via Facebook
Share via Twitter
Share via Linked In
Share via Email
View original post here:
- Precision Medicine Informs Cost-Effective Heart Disease Treatments - HealthITAnalytics.com - May 19th, 2020
- Colonizing Mars may require humanity to tweak its DNA - Space.com - May 19th, 2020
- Complement genes add to sex-based vulnerability in lupus and schizophrenia - Newswise - May 19th, 2020
- 23andMe Is Trying to Crack the Genetic Code Behind the Coronavirus - Motley Fool - May 19th, 2020
- Global Molecular Diagnostics Industry 2019-2029: Genetic Disorders, Cardiovascular Disorders, Infections and Cancer - Yahoo Finance UK - May 19th, 2020
- Prominent Cancer Researcher to Join DRI and Renown Health - GlobeNewswire - May 19th, 2020
- Research Roundup: HIV vaccination, diabetes two-in-one injection, hybrid fish genetics - The Stanford Daily - May 19th, 2020
- Singapore researches discover specific gene linked to Asian Lung Cancer - BSA bureau - May 19th, 2020
- Grant will help scientists break new ground in gene editing - Newswise - May 19th, 2020
- Genomic Medicine Market 2020 | Know the Latest COVID19 Impact Analysis And Strategies of Key Players: Ingersoll Rand, Johnson Controls, Daikin, United... - May 19th, 2020
- Dyne Therapeutics Accelerates Programs in Facioscapulohumeral Muscular Dystrophy (FSHD) with Exclusive Licensing of Technologies to Target Genetic... - May 19th, 2020
- Coronavirus immunity passports could create a world of 'us and them'. But here's why they make sense - Genetic Literacy Project - May 19th, 2020
- New Stem Cell-Based Topical Solution Helps Bald People Regrow Hair - SciTechDaily - May 19th, 2020
- Scientists race to find a cure or vaccine for the coronavirus. Here are the top drugs in development - CNBC - May 19th, 2020
- WHITEHALL ANALYTICA THE AI SUPERSTATE: Part 2 Is COVID-19 Fast-Tracking a Eugenics-Inspired Genomics Programme in the NHS? - Byline Times - May 19th, 2020
- CRISPR And CRISPR-Associated (Cas) Genes Market Size, Share, Trends and Forecast 2026 by Major Players and Business Opportunities Caribou... - May 19th, 2020
- Researchers: Disease affecting kids could be in the genes - Newsday - May 19th, 2020
- From Competition To Sharing: How Her Childrens Rare Disease Led Sharon Terry To Revolutionize Medical Research - Forbes - May 9th, 2020
- Infection rates may have links to cancer - Medical News Today - May 9th, 2020
- Twin peeks: Stanford inherits twin registry, expanding research options - Stanford Medical Center Report - May 9th, 2020
- Management of Fertility and Hormonal Health in Women at Risk for Hereditary Gynecologic Cancers - Endocrinology Advisor - May 9th, 2020
- Individualized mosaics of microbial strains transfer from the maternal to the infant gut - Newswise - May 9th, 2020
- The Falsehoods of the 'Plandemic' Video - FactCheck.org - May 9th, 2020
- Its in your genes Whether Covid lands you in hospital or not depends on your body - ThePrint - May 9th, 2020
- FDA approves Tabrecta, first targeted therapy to treat metastatic NSCLC - The Cancer Letter - May 9th, 2020
- Research into the health of unborn babies receives government funding - UNSW Newsroom - May 9th, 2020
- Genetics and Weight: Is There an Obesity Gene? - LIVESTRONG.COM - May 9th, 2020
- New medical foundation invests in COVID-19 research funding - News - The University of Sydney - May 9th, 2020
- What Do Your Genetics Have to Do With Your Chances of Dying From Coronavirus? - Vanity Fair - May 3rd, 2020
- Scientists Find New Way to Inject Plants With Medicine, And It May Help Save Our Crops - ScienceAlert - May 3rd, 2020
- Sarepta Therapeutics Announces Research Agreement with US Department of Defense to Evaluate Multiple Constructs From its Proprietary RNA Platform as... - May 3rd, 2020
- Evanston hospitals expand to antibody testing - The Daily Northwestern - May 3rd, 2020
- Profits and Pride at Stake, the Race for a Vaccine Intensifies - The New York Times - May 3rd, 2020
- Data On Thousands Of Twins Reveals How Genetics Influences Covid-19 Symptoms - IFLScience - May 3rd, 2020
- The pieces of the puzzle of covid-19s origin are coming to light - The Economist - May 3rd, 2020
- LIST: UW awards $2.2 million to groups, scientists fighting the coronavirus in Wisconsin - WMTV - May 3rd, 2020
- World Laughter Day 2020: Why we must remember that laughter is indeed the best medicine - Hindustan Times - May 3rd, 2020
- When COVID-19 Mutates, What Are the Risks? - MedicineNet - May 3rd, 2020
- Facts that China is trying to suppress about origin of COVID-19 - WION - May 3rd, 2020
- COVID-19: What's RNA research got to do with it? - University of Rochester - May 3rd, 2020
- Medical, tech investments pay off in Covid-19 war - The Straits Times - May 3rd, 2020
- Welcome to the kingdom of the sick - Salon - May 3rd, 2020
- Safety considerations with chloroquine, hydroxychloroquine and azithromycin in the management of SARS-CoV-2 infection - CMAJ - May 3rd, 2020
- XBiotech Identifies Super Bloods for the Development of a True Human COVID-19 Therapy - GlobeNewswire - May 3rd, 2020
- On National DNA Day, scientists are trying to take the colonialism out of genetics - Massive Science - April 26th, 2020
- Turning On the 'Off Switch' in Cancer Cells - Michigan Medicine - April 26th, 2020
- Turkey's top scientific body invests TL 2.3 billion on 16 vaccine projects over 5 years | Daily Sabah - Daily Sabah - April 26th, 2020
- Covid-19 will pass. What about the racism it has illuminated? - STAT - April 26th, 2020
- Infection Rate May Indicate a Future Diagnosis of Cancer - Cancer Network - April 26th, 2020
- Misleading coronavirus information falsely attributed to Johns Hopkins - AFP Factcheck - April 26th, 2020
- He signed up for a coronavirus vaccine trial using a method that's never been used in humans. Here's why. - CNN - April 26th, 2020
- New study could lead to therapeutic interventions to treat cocaine addiction - Newswise - April 26th, 2020
- As Cuomo Issues New Executive Order, Weill Cornell Medicine Ramps Up COVID-19 Testing - Cornell University The Cornell Daily Sun - April 26th, 2020
- Another Step Towards Earlier Detection of Pancreatic Cancer - MedPage Today - April 26th, 2020
- UW president, biochemistry chair and mathematics professor named to American Academy of Arts and Sciences - UW News - April 26th, 2020
- Mustang Bio Receives Advanced Therapy Medicinal Product Classification from European Medicines Agency for MB-107 Lentiviral Gene Therapy for X-Linked... - April 26th, 2020
- Childhood Psychopathology Linked to Higher Levels of Genetic Vulnerability of Adult Depression - Clinical OMICs News - April 26th, 2020
- Gdask scientist makes crucial headway in understanding killer virus by isolating COVID-19 DNA from infected patient - The First News - April 26th, 2020
- Ethiopia's Ministry of Health Holds Webinar With Diaspora on COVID-19 Response at Tadias Magazine - Tadias Magazine - April 26th, 2020
- Immunity and our DNA: Why women are the stronger sex - The Age - April 26th, 2020
- Nobel laureate Luc Montagnier inaccurately claims that the novel coronavirus is man-made and contains genetic material from HIV - Health Feedback - April 26th, 2020
- Concert Genetics Presents Real-World Data on Utilization of NGS-Based Diagnostic Tests in NCCN 2020 Abstract - news-herald.net - April 2nd, 2020
- What scientists know about COVID-19 -- and what they don't - PBS NewsHour - April 2nd, 2020
- UVA Finds Way to Improve Cancer Outcomes by Examining Patients' Genes - University of Virginia - April 2nd, 2020
- Brown Alpert Medical School Autism Expert on Latest Advances in Research and Testing - GoLocalProv - April 2nd, 2020
- Coronavirus testing is ramping up. Here are the new tests and how they work. - Livescience.com - April 2nd, 2020
- Muscular Dystrophy Association Announces Formation of Strategic Medical Advisory Team of Experts in Neuromuscular Care and Research - PRNewswire - April 2nd, 2020
- Modalis Obtains Access to Foundational CRISPR IP - BioSpace - April 2nd, 2020
- Group behind NYC COVID-19 tent hospital is forcing medical workers to abide by anti-gay statement of faith - Metro Weekly - April 2nd, 2020
- What is coronavirus and Covid-19? An explainer - CNN - April 2nd, 2020
- COVID-19 Vaccine: Here Are Steps It Will Need to Go Through During Development | Medicine - Sci-News.com - April 2nd, 2020
- Coronavirus morning update: SA deaths now 5, but 50 recoveries in CT, and lifesaving lockdown - Health24 - April 2nd, 2020
- Can India be an outlier in the spread of Covid-19? | Opinion - Hindustan Times - April 2nd, 2020
- Genetic Medicine | Department of Medicine - March 31st, 2020
- Institute of Genetic Medicine | Johns Hopkins Medicine - March 31st, 2020
- Biotech innovations to spur next phase of personalized care - ModernHealthcare.com - March 31st, 2020
- What is genomic medicine? An introduction to genetics in ... - March 31st, 2020
- Patients with Severe Forms of Coronavirus Disease Could Offer Clues to Treatment - Howard Hughes Medical Institute - March 31st, 2020
- Battelle and Wexner Medical Center create new diagnostic test for COVID-19 - The Ohio State University News - March 31st, 2020
- 8 strains of the coronavirus are circling the globe. Here's what clues they're giving scientists. - USA TODAY - March 31st, 2020