Birth Defects & Developmental Disabilities
Learn About Progeria: A Q&A with Dr. Leslie Gordon, MD, PhD, Medical Director of the Progeria Research Foundation (PRF)
Leslie Gordon, MD, PhD is the Progeria Research Foundation’s (PRF’s) volunteer Medical Director and the Principal Investigator overseeing PRF’s three research-related programs. Her son, Sam, was diagnosed with Progeria five years ago. Dr. Gordon is an Assistant Professor of Pediatrics at Hasbro Children’s Hospital/Brown University School of Medicine in Providence, RI; and a Research Assistant Professor at Tufts University School of Medicine in Boston, Massachusetts, where she conducts her research on Hutchinson-Gilford Progeria Syndrome (HGPS). She has published numerous scientific studies (including the Progeria gene discovery) and provided a wide range of presentations on behalf of PRF’s research. She has appeared on television and has been interviewed about Progeria for articles in the New York Times, Science News, People Magazine, The Boston Globe, The Boston Herald, USA Today and The Journal of the American Medical Association (JAMA). (Photo courtesy of the Progeria Research Foundation)
Q. What is HGPS or Progeria, and what causes this condition?
A. I’m referring to HGPS when I talk about Progeria, although there are other Progeroid Syndromes. Progeria is known as a “premature aging” syndrome, which affects children in a lot of different ways, but their cardiovascular system is the major system affected. All children with Progeria die of premature, severe arteriosclerosis, between ages eight to 20 years. Progeria affects one in four, to one in eight million children, but in a way it affects all of us because these children die of the typical heart disease that affects aging individuals. So understanding what’s happening with children with Progeria helps us to understand how to help all of us who are aging normally.
Most children with Progeria appear to be normal at birth. At about nine months, they begin to show some classic symptoms of Progeria, including skin changes (sometimes tightened and discolored), hair loss and other symptoms over a year or two. They only grow to three-and-a-half feet tall, at most. But their nervous system and their brains are completely unaffected so these kids are socially and intellectually age-appropriate. In other words, they’re happy first, second, third, fourth, fifth graders who are very, very smart, want to be with their peers, want to do everything their peers do and want to just have a good life and a good time.
Q. When and why did you decide to start the Progeria Research Foundation (PRF)?
A. When our son, Sam, was almost two years old, he was diagnosed with Progeria. My husband is a physician and I’m a physician and researcher. So, of course, we immediately stopped everything we were doing to learn about this disease, and within days, we found there was basically nothing out there—less than 200 published articles, no money, no funding and no organization. So we decided to start PRF. My sister, Audrey, is a lawyer, and we asked her to become the President and Executive Director of the organization. This foundation was family-inspired with a personal story-inspired mission. We also have a large, qualified, wonderful Board of Directors, a fantastic volunteer research committee and many other people involved who don’t have a family connection. The Progeria Research Foundation is a not-for-profit organization, which is growing all the time.
Q. Can Progeria be screened for prenatally?
A. Yes, we can, and this has only become possible in the last year since the gene finding. However, since Progeria is not passed down through generations (it is a sporadic autosomal dominant defect), it is very unlikely that the sibling of a child with Progeria will carry the Progeria defect.
PRF was created at a time when there was absolutely nothing out there for these kids. We created this organization with an understanding that we were starting from scratch. This is what we heard:
“There is no money out there for health researchers in this field, so we can’t help these kids.” So we give basic science research grants out so that those pilot projects could take place, and we continue to do this today.
“There are no tools. There are no cells. The researchers need something to work with.” So we set up a cell and tissue bank so that children with Progeria could donate cells and tissues, and these are distributed to researchers throughout the world. Now researchers have everything they need to study the disease.
We wanted to pull researchers into this field because nobody was really thinking about Progeria. We said, “Let’s get them thinking about it,” and we did this in two ways. We held scientific meetings, which helped to spread the word that PRF existed and wanted to fund innovative science in the field of Progeria, and a trickle of grant applications from the USA and abroad started to come in to PRF. We also created the Progeria Research Genetics Consortium. I’m a part of this group, which includes 20 scientists. Six of those scientists directed our efforts towards a project that ended in finding the gene that causes Progeria about 11 months after we started.
The gene-finding now enables us to diagnose Progeria. Physicians throughout the world send a child’s sample, and we provide free genetic testing and tell them whether or not their patient has HGPS.
Q. What is the prognosis for a child diagnosed with Progeria?
A. It’s 100 percent fatal. The children die from heart attacks or strokes. It’s similar to the heart disease of normal aging adults, but it’s accelerated, so these children have angina, strokes—all the typical things you would expect from somebody with arteriosclerosis.
Q. What special challenges do kids with Progeria have?
A. I would put them into two major categories. The first is everyday health. PRF quickly recognized that there wasn’t any information out there about these children’s everyday health needs. Their doctors and physical therapists didn’t know how to treat them. The families needed information and assistance. So, we started our third program—a medical and research database. We collect the data from medical charts in a confidential manner. Then we analyze the data and put out recommendation sheets on issues such as cardiac care, nutrition and physical therapy. Also, physicians and families call us all the time for advice. It’s recommended that these kids have physical and occupational therapy at school so they call us to ask, “What should we have ready for this child? How should we be trained?” A child with Progeria who gets good physical therapy has a very different life from a child who does not.
The second challenge category is psycho-social. These children look very different from the rest of their peers yet intellectually and developmentally they’re the same. Children with Progeria generally just want to be normal, everyday children, and they can be for the most part. They want to have fun. They don’t want to think about Progeria, and Progeria doesn’t have to consume their lives. They can have great friendships and a normal social life. I find that families with a Progeria child like to talk to other families experiencing Progeria, and PRF sometimes connects new families with those who have been living with Progeria for several years.
Q. What are the goals of PRF?
A. To find the cause, treatment and cure for HGPS through research and education.
Q. What are some of the important accomplishments of PRF?
A. I think it’s that we’ve created the support system—the scaffolding—that is absolutely essential to getting to treatment and a cure. We identified the ingredients that were critical—funding for researchers, the Cell and Tissue Bank, the Clinical and Research Database, scientific meetings and workshops that pull in researchers, the consortium and the diagnostics program. The discovery of the Progeria gene has catapulted us forward, and now we are moving towards treatment and cure, but there is a long way to go. We’ve got all the ingredients that we need, plus a lot of hard work and a lot of volunteers.
Q. What can HMHB members and partners do to advance the mission of PRF?
A. We’re a not-for-profit organization. We raise money through bake sales, road races, and through the generosity of wonderful people. Those $25 donations are so essential for accomplishing our mission. We offer everything for free. We can’t do anything without the people throughout the world who have shown us that they are passionate, wonderful and loving towards these children.
To find out more about Progeria visit the PRF Web site at: www.Progeriaresearch.org
Photo courtesy of Evan Richman and the Progeria Research Foundation