Advancing Care for Children with White Matter Disease: Leukodystrophy Center

Leukodystrophies are inherited disorders of the white matter of the brain and spinal cord that can cause problems with movement, speaking, vision, hearing, and overall development. These disorders are difficult to recognize and diagnose. The Leukodystrophy Center at Children's Hospital of Philadelphia (CHOP) provides comprehensive clinical care, diagnostic testing and the most advanced treatments available to infants, children and adolescents living with these inherited white matter diseases. In this video, hear from clinicians and patient families who have been cared for by CHOP’s Leukodystrophy Center, and learn how the team is using cutting-edge research to better understand the causes of leukodystrophy and advance clinical care.

Transcript

Advancing Care for Children with White Matter Disease: Leukodystrophy Center

Adeline Vanderver, MD: Leukodystrophies are inherited disorders of the white matter of the brain and spinal cord. The white matter's made up of specialized cells and a substance called myelin. Myelin is like the insulation around the electrical cords of your brain to allow you to speak, walk, eat, and even breathe. Children and adults who are affected by leukodystrophies can have problems in all those areas.

Patient:  Before I came to CHOP, I went to so many different doctors. So many different neurosurgeons.

Amy Waldman, MD: Leukodystrophies are difficult to recognize and diagnose, leaving families struggling and confused as to what it means.

Mother:  It feels scary to not know what is wrong with your child. It's literally been seven years and we've seen countless, probably up to 50 different specialists. And, you mean, here we are, sitting in this room today, getting a diagnosis of leukodystrophy and it's the first time that we've heard something that scientifically makes sense. Just getting the diagnosis of leukodystrophy raises many other questions that we now have to figure out.

Brenda L. Banwell, MD: The Leukodystrophy Center of Excellence is dedicated to providing, first and foremost, a home for children with leukodystrophy. Our mission is to provide cutting-edge, clinical, multidisciplinary care to children living with leukodystrophy, and to bring together researchers dedicated to solving these conditions, and meaningfully advancing clinical care.

The Leukodystrophy Center of Excellence has four key areas. We have a newborn screening program to identify infants diagnosed with leukodystrophy. We have a complex and multidisciplinary clinical care program to help manage all of the complexities. We have a translational therapeutics program to bring forward advances in clinical treatment. And finally, we have a discovery program that brings cutting-edge research to better understanding the causes and the biology of leukodystrophy.

Amy Waldman: At the core of our program is our Comprehensive Care Clinic, which brings together a multidisciplinary set of specialists to address all of the different medical needs of these patients, to maximize their health, quality of life, and function in their everyday lives. We offer superior care, first in diagnosing the disorder and then managing the various symptoms, with a team of specialists from physicians to nurses, therapists, nutritionists, social workers, all of whom see the family on the same day and communicate the plans as a team in a comprehensive way.

Mother: The Leukodystrophy Center at Children's Hospital of Philadelphia has been great for our family. We can come here on one day and see multiple doctors and nurses and therapists, and feeling that sense of community.

Mother: They're welcoming, they explained things, not just in a doctor terms, but as a parent, not in being in the medical field, I understand. It's just been a blessing to be here and to be able to have such a good, supportive team.

Adeline Vanderver: Unfortunately, most leukodystrophies do not have a cure. However, the lack of curative approaches should not mean that patients with a leukodystrophy are not offered therapy. The therapeutic part of our program is focused not only on delivering clinical trials where they're available but also on developing the next generation of clinical trials through natural history studies and biomarker development.

Father: We've had the opportunity to participate in this clinical trial. We needed just three days to make her skin, you know, look .... perfect. Yes.

Mother: She has much more energy and she's much more talkative, so this is the improvement that the drug is working.

Benda L. Banwell:  The Children's Hospital of Philadelphia is home to one of the largest child neurology divisions in the world. We have a world-class metabolics program, we have genetic sequencing capacity, and we have expertise in stem cell and bone marrow transplantation. We have all the assets and all the skills to be the home for the Leukodystrophy Center of Excellence.

Amy Waldman: We all share a common goal, bringing together clinicians, families, and patient advocacy groups to change what it means to live with these disorders.

Mother:  We have more support, I think now, when we're here. We have like follow-ups that are really, like you know, this is what, what's gonna happen in the next three months, and we see that there's like more kids, which is a very like good and uplifting news to our community of families with AGS. It's giving us the encouragement to move forward with what's best for our child.

Adeline Vanderver: Advances in genomics are revolutionizing the care of people with rare disease, and we, at the Leukodystrophy Center, will harness that power to diagnose, care for, and treat individuals with leukodystrophy.

Benda L. Banwell:  The Leukodystrophy Center of Excellence was inspired by the children living with leukodystrophy, and is dedicated to translating that inspiration into meaningful advances in care.

Topics Covered: Leukodystrophy, Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC), Aicardi-Goutières Syndrome (AGS), Alexander Disease, 4H Leukodystrophy

Related Centers and Programs: Leukodystrophy Center, Division of Neurology


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