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2014 Symposium_Jim and Taylor Family
Co-Founder Jim Kelly and the Taylor Family
at our 2014 Family & Medical Symposium


If you or a loved one is affected by a Leukodystrophy, you are not alone.  Please visit our Affected Family Registration page and tell us more about your family. After registering with the Foundation, our Family Care Representative, Kathleen Scott, will contact you to learn more about your family’s story and how we may be able to help you on your journey.

Leukodystrophies

What is a Leukodystrophy?
Leukodystrophies are a group of disorders that affect the white matter in the brain. The word comes from Leuko, which means white, and dystrophy, which means imperfect growth. Therefore, Leukodystrophies are characterized by imperfect growth of the white matter in the brain.

How many Leukodystrophies are there?
Currently, there are over 40 known Leukodystrophies, although many still remain unclassified.  This list has grown significantly in the last ten years and as research advances, scientists will continue to discover and classify new variations in this family of diseases.

As a group, Leukodystrophies are estimated to affect approximately 1 in 7,000 people, however as more unclassified variants are identified this number may increase to as high as 1 in 2,000.

For a listing of classified Leukodystrophies to date, please download the PDF.


Why do you get a Leukodystrophy?

Most Leukodystrophies are genetic, which means that they are passed from parents to children. Depending on the Leukodystrophy, the manner in which a mutated gene is passed down will differ.

Although rare, recent research has also indicated that some Leukodystrophies develop sporadically, meaning that neither parent is a carrier of a mutated gene.


How are Leukodystrophies diagnosed?

Often times, MRIs used to produce detailed images of the brain help in the initial diagnosis of a Leukodystrophy. Depending on the Leukodystrophy, additional diagnostic measures may include, blood tests, urine tests, hearing tests, nerve biopsies, CT scans or lumbar punctures.

Newborn screening can also be used to help detect a limited number of Leukodystrophies. Currently, newborn screening exists only for Krabbe Disease and Adrenoleukodystrophy (ALD). However, this group is anticipated to grow as research continues to advance. Unfortunately, not all states include Krabbe and ALD in their newborn screening panels.  


Is there treatment for Leukodystrophies?

Depending on the type and stage of the Leukodystrophy, some treatments may be available such as cord blood or bone marrow transplantation. However, in many cases, treatment must be administered before the disease is too far progressed.

Research studies exploring the effectiveness of enzyme replacement and gene therapy are also underway for some Leukodystrophies.

Often, treatment is limited to symptom management. This includes, but is not limited to, various medications, adaptive equipment, physical, speech and occupational therapy, nutritionists, nursing, etc.  Although this does not stop the progression of the disease, this proactive approach greatly improves the child’s comfort level as well as quality of life.  For more information, visit our Hope for Life webpage.


What are the symptoms of Leukodystrophies?
Most commonly, Leukodystrophies are defined by a gradual decline in development. An infant or child, who was previously exhibiting normal development, may experience progressive loss in gait, body tone, vision, hearing, swallowing and ability to eat.


What makes Leukodystrophies similar? What makes them different?
All Leukodystrophies are the result of an improper growth of myelin.  Myelin is the protective covering of nerve cells and acts like insulation surrounding an electric wire. Myelin is made up of thousands of chemicals, each of which affects the myelin sheath in some way. The myelin sheath, which is the main component of the white matter, is extremely complex. Leukodystrophies are caused by a deficiency in one of these chemical substances, which results in problems within the myelin sheath.

Many genes are involved in the process of making healthy myelin. A mutation, or defect, in any of the genes associated with this process may result in a Leukodystrophy. Symptoms vary, depending on the type and stage of each specific disease. 


What research is being done to help those with Leukodystrophies?
Through Hunter’s Hope Foundation, scientists at the Hunter James Kelly Research Institute are investigating various aspects of Leukodystrophies in hopes of improving available therapies and ultimately finding a cure for these diseases.

Several research projects are currently underway to help improve the lives of Leukodystrophy patients. For a list of research projects that Hunter’s Hope has, or is currently funding, please visit the Research Projects section of the Hunter’s Hope website.


Additional Resources for Families

Hunter’s Hope Foundation – Family Care 

Hunter James Kelly Research Institute

Duke Children's Hospital: Bone Marrow and Stem Cell Transplantation


Additional Resources for Medical Professionals

National Institutes of Health: Leukodystrophies

NIH Gene Reviews: Leukodystrophy


     
 
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"For I know the plans I have for you," declares the Lord, "plans to prosper you and not to harm you, plans to
give you hope and a future." 
Jeremiah 29:11 

 


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