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Leukodystrophy and Myelin Disorders Program

Contact number | 202-476-2120
Emily's Story

Emily’s Story: Solving the Mystery of Leukodystrophy

When Emily was 10 months old, her parents took her to the emergency department because she appeared to be in extreme abdominal pain.

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The Leukodystrophy and Myelin Disorders Program at Children's National Hospital is a recognized leader in providing comprehensive clinical care, diagnostic testing and the most advanced treatments for children with inherited white matter diseases, or leukodystrophies.

Choosing the Leukodystrophy and Myelin Disorders Program at Children’s National

Identifying the cause and type of a white matter disease can be challenging. To ensure that your child receives the best care and the most appropriate form of treatment, the Leukodystrophy and Myelin Disorders Program provides your child with integrated care from a team of neurologists, biochemical geneticists, pediatricians, rehabilitation physicians, genetic counselors and speech therapists. 

Features of our program include:

  • Expert care. Our specialists are international leaders who have pioneered leukodystrophy and myelin disorder research and treatments.
  • Personalized treatment plan. We create a personalized care plan based on the genetic makeup of your child. We understand that all children are unique and require treatments that meet their unique needs.
  • Clinical trials and research. Our team of researchers and clinicians are devoted to the discovery of novel variations responsible for pediatric white matter disorders and to translate these findings into clinical treatments through extensive research, clinical trials and studies.
  • Ongoing care. Our team of specialists provides ongoing care throughout the diagnosis and treatment of your child’s condition.

Conditions we treat include:

  • Aicardi Goutières Syndrome
  • Adrenoleukodystrophy, Adrenomyeloneuropathy
  • Alexander Disease
  • Canavan Disease
  • Cockayne Syndrome
  • Fucosidosis
  • Hypomyelination with Atrophy of Basal ganglia and Cerebellum (H-ABC)
  • Krabbe disease
  • Leukoencephalopathy with Calcifications and Cysts (Labrune Syndrome)
  • Metachromatic leukodystrophy
  • Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC)
  • Pelizaeus Merzbacher Disease, Pelizaeus Merzbacher-like disease
  • PolR3 related disorders (4-H syndrome)
  • tRNA synthetase disorders (LTBL/EARS2), LBSL/DARS2, FARS2, others)
  • Vanishing White Matter disease
  • Zellweger spectrum disorders

Ryan A's Story

Ryan Alam, a teen fighting a rare neurodegenerative disease, tandem skydives with SFC Chris Acevedo of the U.S. Army Parachute Team. Photo courtesy U.S. Army Parachute Team, the Golden Knights.

Ryan has neurodegeneration with brain iron accumulation, or NBIA. Of the different types of NBIA, he has mitochondrial-membrane protein-associated neurodegeneration, or MPAN, a disease in which a surplus of iron accumulates in the brain and causes it to deteriorate. Tuba Alam, Ryan’s mom, says that despite his condition, his goal in life is to help others like him find a cure so that they can live a full life.

Ryan A's Story

Leukodystrophy and Myelin Disorders Program Team

  • J Fraser

    Jamie Fraser
    Director, Myelin Disorders Program
    Director, Fetal Genetics Program
    Medical and Biochemical Geneticist

  • Laura Tochen

    Laura Tochen
    Director, Movement Disorders Program
    Co-Director, Myelin Disorders Program

  • Miriam Bloom

    Miriam Bloom

  • Mi Ran Shin

    Mi Ran Shin
    Associate Fellowship Program Director, Rehabilitation Medicine
    Pediatric Rehabilitation Specialist

  • Jullie Rhee

    Jullie Rhee
    Nurse Practitioner