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Dr. Whyte: Hello, I’m Dr. John Whyte, chief medical expert for the Discovery Channel. A diagnosis for a neurodegenerative disease, such as Krabbe disease or Hurler syndrome, takes a once healthy child down the road of physical decline, often resulting in blindness, paralysis, and even death. It not only changes the life of the patient, but the lives of the families as well.
There is no proven treatment or cure for this family of diseases, but doctors at Children’s Hospital of Pittsburgh of UPMC are leading the way to identifying new treatment options. At Children’s, pediatric neurologists and cord blood and bone marrow transplant specialists work closely to quickly evaluate and treat children with these life-threatening diseases.
Dr. [Maria]Escolar: Neurodegenerative diseases are diseases of the brain in which children are usually born normal and then, usually because of a genetic problem, they start regressing. Our first patients had Krabbe disease, and that grew incredibly in terms of the population of kids we see. Our clinic is following about 80 patients, which is probably about the largest number in the world in a practice. But we see other diseases like metachromatic leukodystrophy, adrenal leukodystrophy, Hurler syndrome, Hunter syndrome, Sanfilippo.
Because these diseases affect only the brain, they end up living a long time until the brain degenerates enough that it causes them to stop breathing, and so they are pretty awful diseases, especially for the parents. One of the things that we are offering here now is that we have the Program for Neurodevelopment in Rare Disorders, and we are now able to provide to some of the children, treatment, by using unrelated umbilical cord blood transplantation. Instead of bone barrow, we use cord blood because you can get access to cord blood much faster than what you would for bone marrow.
Dr. [Paul] Szabolcs: As a cord blood and bone marrow transplanter, I am very excited to work with Maria Escolar and the NDRD team. I think here at Children’s Hospital, close proximity and back-and-forth communication in terms of patients arriving, being evaluated for the stage and progression of disease, lets us quickly take an assessment whether transplant is a potential treatment option for that case, and I am very excited that we are able to offer transplantation as an option in as little as 10 days after a family might arrive.
Dr. Escolar: We also have a clinical research program that is funded by NIH, and we also get industry-sponsored when we are developing treatments because they have to understand what is the natural course of this disease is. We have such a large number of patients with this rare disease that we are able to provide this information to them.
Dr. Szabolcs: Transplantation is a process that takes several months. Neurodevelopment takes years and years and years. The NDRD team and Maria are going to follow these children for years to see if the outcome is truly benefitting them in the cognitive, gross-motor, fine-motor, and social skill level, all of which obviously have a many, many year, if not decades, span to fully evaluate.
Dr. Escolar: I am not aware of any other program doing what we do in the world, and I think that’s the reason why families are traveling from all over. We have done these now for 12 years and I continue to follow some of those patients, many of which should have died at age 2. They are improving, they are learning new things, they are not degenerating. We have been very successful with some of the diseases.
It’s a very difficult thing for the families to do. They need so much help in taking care of these kids. We are allowing these parents to take care of their child, and we are helping them through the process, and that’s huge. That’s huge help. So, they should never be sent home with a message that there’s nothing to do, there’s nothing we can do, and I think that would be the most important message I can send.
Dr. Whyte: The Program for the Study of Neurodevelopment in Rare Disorders at Children’s Hospital of Pittsburgh of UPMC brings a multidisciplinary approach to treating these diseases and provides care, support, and advocacy for children and families facing this devastating diagnosis.
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