Clinic works with providers across the state

Kent McKelvey, Jr., MD, and his team at the UAMS Adult Medical Genetics/Down Syndrome Clinic are working to become a national leader in an area that doesn't get a lot of national attention from public policy makers.

McKelvey is Rockefeller chair in clinical genetics at the clinic, which serves hundreds of individuals with Down syndrome ages nine and up from across the state. Individuals with Down syndrome are born with three 21st chromosomes.

McKelvey, whose wife's 65-year-old aunt has Down syndrome, said society's understanding of the condition has changed dramatically through the years, in part because science has shown that everyone has a genetic imperfection of some kind or another. In the past, some individuals with Down syndrome didn't live to adulthood, and many who did were institutionalized. Today, such individuals can live independently, hold jobs and even attend college.

"There is a vast difference in cultural expectations in what our patients who are currently 40 and over experienced, maybe what the 20 to 40 group experienced, and what the under-20 group experiences," he said. "People with Down syndrome, and I think people with genetic conditions in general, are expected to excel and be happy and live their life and enjoy it."

McKelvey originally practiced as a family physician in rural Arkansas – experience, he said, that was critical in helping him be a more effective clinician now. He then completed his second residency in medical genetics at the University of North Carolina-Chapel Hill. He has been at UAMS eight years.

While the National Down Syndrome Society lists almost 60 clinics and healthcare providers for individuals with Down syndrome, well under half serve adults, and only some of those offer a multidisciplinary approach like UAMS.

According to McKelvey, the clinic works with other providers across the state who may have limited experience dealing with patients with Down syndrome and other chromosomal conditions. Clinicians create specific preventive care programs tailored to each patient. The clinic takes a holistic approach, providing medical, physical therapy, dietary, and other services.

"A big part of what we do is educate," he said. "People come with lots of questions. They want to know is a particular behavior, is a particular laboratory study, is a particular physical exam finding, is it normal? And without the perspective of having seen lots of patients with Down syndrome or a particular genetic syndrome, it's really impossible to answer that. So most of what we do at that point is, I hope, give some level of calmness and some level of support and education."

Individuals with Down syndrome face medical conditions that are distinct from the general population. For example, many are born with heart defects that often can be corrected surgically in infancy. As adults in their 20s and 30s, they often experience decreasing bone density that is more common among senior citizens in the general population.

For physicians, that can present a challenge. Because so little research has been done on the effects of pharmaceuticals on individuals with Down syndrome, they are forced to make decisions without complete information.

"If you're a 60-year-old lady in the general population, and you have low bone density, we might put you on a specific medicine, a bisphosphonate," McKelvey said. "Well, what do we do if you're 25 and you have low bone density? How long can we continue that? Do we continue that for a year, five years, 40 years? There are no studies on that."

Down syndrome is the most common chromosomal abnormality in the United States, with about one in every 800 births affected. About 400,000 Americans have the condition.

But funding hasn't followed the patients. The National Institutes of Health invests $42 in research for every person living with Down syndrome, according to Brian Skotko, MD, a physician in the Down syndrome program at Children's Hospital Boston and a board member for the National Down Syndrome Society. That compares to $3,000 per person for the 30,000 people with cystic fibrosis. Multiple sclerosis and Crohn's disease each affect about the same number of Americans as Down syndrome, but the NIH spends $422 per person with MS and $128 per person with Crohn's.

"At $42 per person with Down syndrome, we're not really advancing our understanding of individuals with Down syndrome," Skotko said. "As a physician, there are so many unanswered questions that I need quality research for in order to provide better medical care. Our individuals with Down syndrome are achieving success in the classroom and in society at levels never seen before, but they're being slowed by the lack of research, which won't allow us to answer those questions. How do we even more maximize their productive lives?"

A national registry would be high on Skotko's wish list. He is studying new screening methods for obstructive sleep apnea, which is more common in individuals with Down syndrome but can be hard to predict without a costly overnight sleep study.

McKelvey said the medical community would be well-served by investing in research in Down syndrome, not only because of the benefits it would have for individuals with the condition but also because of the possible benefits to the general population. While individuals with Down syndrome face medical challenges, they typically are less susceptible to certain conditions such as solid tumors and atheroscleroris. "And so the question is, what are the things on chromosome 21 that are potentially curative to common diseases in the general population?" he said.

By being the state's only medical provider specializing in Down syndrome and other medical conditions, the UAMS clinic is filling in some of the research gaps – both by documenting what happens with its patients and by using traditional research methods, including using genetically engineered mice that mimic the characteristics associated with Down syndrome.

"We're making progress," he said. "We're by no means there. Again, I think the key part to this is to gain expertise over time, to get a pattern for what is normal and position ourselves to answer the critical questions that arise."

"This is a new frontier and it's not been done before; if it had, there'd be a book about it. There is no book. So we will write it."

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