Finding hope for parents and children

Faced with telling parents their child has a serious disease, doctors want to be able to offer some hope as well. Thanks to the research of Dr. Tony Rupar and his team of scientists in the Molecular Genetics Program at CHRI, sometimes that hope is possible.

Dr. Rupar has three main areas of research. One of those is metachromatic leukodystrophy (MLD), an inherited neuro-degenerative disorder that usually presents in late infancy or early childhood. There is no known cure and children diagnosed with it usually die by about five years of age.

Bethany’s Hope Foundation funds most of this research. Bethany was well at birth and during her first year. Around her second birthday she began to show signs of losing skills instead of learning more. Bethany’s parents, David and Lindey McIntrye, were told of her diagnosis, and despite knowing research wouldn’t be able to save her, they wanted to make a difference for other parents and their children. Rare disease can make families feel isolated when they hear the diagnosis. They may not know where to turn for help, support, information, or advice.

“They asked why can’t MLD be treated?” says Dr. Rupar. The answer is that we do not know how to effectively treat MLD and many other similar neurodegenerative disorders. “They decided to raise money to fund research. Their efforts caught the attention of the community which provided tremendous support. At first, the money was raised for research at the University of Pittsburgh, but Bethany’s Hope Foundation decided to establish a research laboratory in London. The objective is to understand the disease process and find a treatment.”

Sometimes rare diseases occur in pockets of the population. Dr. Rupar and Dr. Victoria Siu are screening all newborns and up to two-year-olds for the presence of four genetic disorders in an Amish community. Treatment and the prevention of further illness is possible with early detection.

"The community has embraced the research and wants it to continue and expand," says Dr. Rupar. A conference is being organized to bring American and Canadian experts together to share information. "We want to find the best way to deliver genetic medicine to similar communities across the country. There is a very direct impact of this research," says Dr. Rupar. It also juxtaposes a rural community in which most babies are delivered by midwives, with cutting edge technology in the most modern medical labs.

Dr. Rupar’s third area of research is investigating patients with diagnoses that are very rare. His diagnostic lab is a regional facility for diagnosing inborn errors of metabolism that most often affect children.

All of his research is clinically driven. “Working with people has tremendous appeal and is a great motivator,” he says. “Our basic science projects are initiated by clinical problems. I have a fascination with uncommon genetic disorders. Individuals with these disorders tell us a lot about both disease processes and normal metabolism and development. When a process doesn’t work properly, it provides insight into what is ‘normal.’

“Most exciting is establishing the diagnosis of a treatable disorder in a child and preventing disability.” Sometimes there are no effective treatments but families can still be helped through informed genetic counseling. Often the basis of the counseling is information generated in the research laboratory that is quickly applied to the clinical setting.“

“These infants and children are some of the most needy and vulnerable members of society. In many respects “there but for the grace of God” go any of us and we must recognize the need to help them as much as possible.”