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>> Leukodystrophies are inherited disorders of the white matter of the brain and spinal cord.
The white matter is 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 breath. Children and adults who are affected by Leukodystrophies can have problems
in all those areas.
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>> Before I came to CHOP I went to so many different doctors, so many different neurosurgeons.
>> Leukodystrophies are difficult to recognize and diagnose leaving families struggling and
confused as to what it means.
>> 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 specialist 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.
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>> 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 new born 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.
>> 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.
>> 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.
>> They're welcoming. They explain things not just in a doctor terms, but as a parent not 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.
>> Unfortunately most Leukodystrophies do not have a cure. However the lack of curative
approaches should not mean that patients with the Leukodystrophy are not offered therapy.
A 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.
>> 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.
>> She has much more energy and she's much more talkative. So this is the
improvement that the drug is working.
>> 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.
>> We all share a common goal -- bringing
together clinicians, families and patient advocacy groups to change
what it means to live with these disorders.
>> 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 going to
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.
>> Advances in genomics are revolutionalizing
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.
>> 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.
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