Decoding the unique medical needs of the Amish | Kevin Strauss | TEDxLancaster

[Music] I'm Kevin Strauss I'm a pediatrician in southern Lancaster County and this is where I work it's a clinic for special children where we provide a medical home for some of Lancaster's most vulnerable children amish and mennonite children who suffer from rare genetic disorders these children are vulnerable in every sense of the word socially they have poor access to medical care financially they have no health insurance and biologically they're at risk for some devastating medical problems and this is where their story begins this is an image from the martyr's mirror which is a book you will find in most Amish homes that chronicles 250 years of persecution throughout Europe for the radical belief in adult baptism this persecution walled off the Anabaptist cultures from the mainstream of European culture in such a way that it created what we call a genetic founder population the genetic material became tied up within that population and some of those people came to Lancaster County but only about 80 founders formed all the genetic material that now constitutes the larger Amish population of Lancaster County which numbers about 60,000 this creates unusual genetic health risks genetic risks become amplified in the subsequent population this man who is this man well he is me and he is you and one of the interesting things about the Amish and Mennonite populations is they come from European stock and so the genetic risks of the amish and mennonite people are not unique to those people they are risks that we will find in the general population and so what we learn from these cultures can teach us much about our own healthcare we owe a great debt to our founders Holmes and Caroline Wharton Wharton's had a unique vision 25 years ago and one of the most important aspects of their vision was that if we were to harness knowledge from the human genome project and from biochemistry to improve people's lives we needed to start with healthy children we needed to identify them before they got sick and create a medical home where they could get affordable local care this is that home from the clinic's inception the Amish and Mennonite people to borrow a phrase from Winston Churchill have put in their blood and toil and their sweat and their tears they raised the building themselves they currently threw quilt auctions and benefits still provide about a third of our annual operating budget but our resources are limited the clinic has never accepted federal grant money we have no large research funding and as Lord Rutherford said we haven't got any money so we had to think and think we did we have for 25 years continued to integrate the most advanced biochemical and genetic technologies into the care of the most vulnerable children among us and we've done so in a way that actually reduces medical costs and reduces the cost of research we now can diagnose 150 different genetic disorders at our clinic and we can offer testing for people on cord blood samples and make those diagnoses often before a baby is two hours old we're discovering about ten new genetic disorders each year I'm not going to spend time this morning telling you about all hundred and fifty of those disorders I just want to tell you about one of them one of them that is very important to me personally this is one of my first patients at the clinic it's a young Amish girl here at age 11 months one of the first patients I met when I came to the clinic in 2001 she has a rare genetic disorder called glutamic acid area or GA one it is rare among the general population but among the Amish of Lancaster County occurs in one in four hundred births one of the most important scientific discoveries that dr. Morton made in the early years of the clinic is he identified that this mysterious condition called Amish cerebral palsy that seemed to strike down healthy Amish children in the first two years of their life was caused by a biochemical deficiency of this enzyme GCD H which is involved in the degradation of an essential amino acid called lysine and that because of this block a neurotoxin builds up in the brain that can cause severe damage to a structure that controls muscle tone and posture in my first six months of the clinic I witnessed the devastating effects of this in this child she had a fever for about 24 hours a respiratory illness her mother put her down for a nap and went to pull her out of her crib and found her paralyzed all in the course of an hour brought her to the hospital where we identified an irreversible and devastating metabolic stroke to the brain this is my patient today she's mentally normal she can think and feel just like you and me but she can't speak she can't use her hands she gets fed through a tube in her stomach and she's racked with painful muscle spasms day in and day out confined to a wheelchair I watched this happen to six children in my first five years of the clinic and doctor Mort and I became obsessed with understanding the root cause of this brain damage the problems that drive us in our research are the problems that we face every day they're the problems that our patients face every day we don't have the luxury of choosing what we need to study through the help of many collaborators and through many long nights we built an understanding of the root biochemical cause of this disorder that allowed us to design a new therapy an infant formula of all things a simple infant formula it's very safe we did a clinical trial starting in 2006 with this formula and these are the results in 1989 25 years ago in the clinic started there were 17 patients with glue Taric acid area type 1 16 of them were in wheelchairs by the time I came in 2001 dr. Morton through his untiring efforts had reduced the brain injury rate to about 35% we've now treated 22 children consecutively with our formula and we've had no brain injuries since 2006 now I want to show you a video clip to help you understand what this means this is a patient of mine who's in his 20s he's one of the first children identified by dr. Morton with this disorder he wanted me to show you this video he wanted me to show you what it feels like to be him I asked him here simply to touch his left index finger to his nose let me show you now a picture video clip of one of the patients who was in our study trial and took this formula two brothers having breakfasts one of them has GA one can you tell which one I can't it's a little boy on your right and he should grow up to have a healthy life and he may choose one day to have a family of his own that's a difference that makes a difference one of the important lessons of GA one and many of the genetic disorders that we take care of is that we are identifying foundational knowledge in what the underlying root causes are of common medical diagnosis thirty years ago GA one would have been called cerebral palsy but now from our work and the Amish and Mennonite populations we know that cerebral palsy is not one disease this is a group of six different genetic disorders that can mimic cerebral palsy that would present to a primary care pediatrician and all appear the same on the surface but each would have a distinct molecular cause why is that important to know because if I was setting out to prevent serious physical disabilities and intellectual disabilities and children I would have to treat each one of these differently and I would have to know about the risk before it causes devastating brain disease finally I want to spend a couple of moments talking about the financial implications of this work this is showing you the difference between consumer price index and medical inflation medical inflation has consistently about doubled consumer price inflation how do the efforts at the clinic affect Medical Expenditure among an uninsured Amish and Mennonite population here I'm showing you the clinic's budget projected from 2010 to 2020 in red our current operating budget in 2014 is just about two million dollars what does it mean to be able to diagnose a child with a serious risk for disability when they're a couple of hours old for $50.00 what does it mean in real dollars the average cost of working up a child for an intellectual disability or severe neurological disability in a modern pediatric hospital range is between twenty and thirty five thousand dollars so just by being able to do this in our laboratory in Strasburg allows us to save the communities over two million dollars a year in medical expenditures that service alone would justify all the work at the clinic but having that pre-symptomatic diagnosis lets us keep children out of the hospital so we now have reduced hospitalization rates for children with serious medical health risks by in some cases ninety to ninety five percent to be a patient in a modern US pediatric hospital costs between five and thirty five thousand dollars a day by reducing hospitalizations for a single genetic disorder like maple syrup urine disease by ninety five percent we save the populations as much as eight to ten million dollars a year in hospital costs but finally what does it mean to and deafness what does it mean to keep a child out of a wheelchair what does it mean to send a child to a normal school well there are very real medical costs and indirect costs associated with that and we save the communities 15 to 20 million dollars a year by preventing these disabilities so if we project to a budget of 2.4 million dollars next year we expect that'll save the community over 40 million dollars in medical costs what is the lesson of all this to us one of the most important things the amish and mennonite have to teach us is they are not different from us they are us this could be your family these could be your children and your grandchildren so what we have done with this communities we've learned to close the implementation gap take what we've learned from the human genome project and the great advances in biological science and harness that power to prevent disease and what the Amish and Mennonite people have allowed us to do is glimpse into your future the future of medical care and show us a way in which genomic knowledge can make us all healthier and improve the well-being of people all over the world and now I'll leave you with this question will we have the humility and the courage to take that lesson to heart thank you for your attention [Music] [Music] you

Channel: TEDx Talks

Views: 21,037

Rating: 4.834197 out of 5

Keywords: ted, Medical Research (Award Discipline), ted talks, United States Of America (Country), Lancaster Pennsylvania, Amish (Ethnicity), tedx talk, TEDxLancaster, tedx, ted x, ted talk, English Language (Human Language), tedx talks, TEDx

Id: N2ox8g4uQqc

Length: 15min 25sec (925 seconds)

Published: Fri May 30 2014