Parent Resources

Leukodystrophy Centers and Doctors

Children’s Hospital of Philadelphia, Philadelphia, PA

Dr Adeline Vanderver; Dr Amy Waldman - 1 800 TRY CHOP

Children’s Hospital of Pittsburgh – Pittsburgh, PA

Dr. Maria Luisa Escolar; chp.edu

Kennedy Krieger Institute, Baltimore MD.

Dr Ali Fatemi; 443 923 2750

Massachusetts General Hospital – Boston, MA

Dr. Florian Eichler; Contact: massgeneral.org 

Children’s Healthcare of Atlanta, GA

Dr. Stephanie Keller, Program Director.  404 785 5437

University of Utah Health, Salt Lake City, UT

Dr. Joshua L. Bonkowsky, Division Chief of Pediatric Neurology;  801 213 3599

Stanford University Medical Center – Palo Alto, CA

Dr. Keith Van Haren; Contact: med.stanford.edu 

Leukodystrophy Expertise at Baylor College of Medicine & Texas Children’s Hospital, Houston TX; 832 824 1000

Located at 6621 Fannin Street, Houston, TX, this clinic offers multidisciplinary care for patients with genetically inherited white matter disorders.  

Myelin Disorders Biorepository Project (MDBP): A research initiative aimed at defining novel patient groups with leukodystrophies and uncovering their genetic causes.  

GLIA-CTN EHR Data Extraction Project: This project focuses on developing a comprehensive library of clinical data for individuals with confirmed leukodystrophy diagnoses, enhancing understanding of disease progression and outcomes.  

University of Minnesota Masonic Children’s Hospital – Minneapolis, MN

Dr. Jakub Tolar, Director, Stem Cell/Gene Therapies; Contact: Phone: (612) 625-2912 

Leukodystrophy Care Network (LCN)

• Certified Centers Include:
  

  • Ann & Robert H. Lurie Children’s Hospital of Chicago, IL

  • Children’s Healthcare of Atlanta, GA

  • Columbia University NYP Morgan Stanley Children’s Hospital, NY

  • Duke Children’s Hospital, NC

  • Golisano Children’s Hospital at University of Rochester, NY

  • Kennedy Krieger Institute, MD

  • Lucile Packard Children’s Hospital at Stanford, CA

  • Massachusetts General Hospital, MA

  • Mount Sinai Hospital, NY

  • Nationwide Children’s Hospital, OH

  • Primary Children’s Hospital, UT

  • UC Davis Health System, CA

  • UPMC Children’s Hospital of Pittsburgh, PA

Social Media Groups

Parent and Family member support pages

Please Contact us using the link above to request access to these private pages. You must have a confirmed diagnosis to access these support groups.

TUBB4A Advocacy Group

This public Facebook Group is dedicated to bringing families and interested advocates together to advocate as a group to raise awareness and promote more attention to and funding for research for this progressive neurological condition tied to the TUBB4A gene mutation and similar leukodystrophies.

H-ABC NATURAL HISTORY STUDY

As part of an ongoing effort to launch a robust Natural History Study on H-ABC, the team at the Children's Hospital of Philadelphia (CHOP) is reaching out to families of individuals affected by H-ABC for information on the symptoms and problems they have experienced as part of this diagnosis.

Click below to find out more on the most recent highlights from this study, details findings from a recent publication, and how to participate in the study.

TRAVEL RESOURCES

Angel Flight East provides free air transport to qualified patients and their families by arranging flights to distant medical facilities and reuniting families during desperate times.​

PALS SkyHope provides free medical flights to people who need to access medical care that may be too far to get to by car

DIAGNOSIS

Getting a complete and accurate diagnosis is critical to understanding the condition and many doctors either don’t know enough about the condition or don’t conduct the proper testing. The Foundation to Fight H-abc works with GeneDx who has diagnosed many of our patients. Below is the link to GeneDx’s Genetic Counselors at no-cost. Patients do need to have their doctor complete the referral form.

GeneDx Genetic Counseling Services

Link for Referral form: Genetic-Counseling-Referral-Form.pdf

If you are interested in connecting with a provider who can help you get a genetic test, GeneDx has a new partnership with Genome Medical.

More information here: Genetics Connection - GeneDx

Discover More with GeneDx - Experts in Genome & Exome Testing

We now have our own diagnostic code for H-abc/Tubb4a related leukodystrophy, see below

CONNECTION TO SERVICES AND SUPPORT

The Foundation has partnered with Child Neurology Foundation to connect patients with much needed services, support and more using their Unite Us platform:

Learning more about a child neurology disorder | Connecting to disease specific organizations like us | Talking to another parent | Learning about clinical trials | Navigating transitioning from child to adult healthcare | Getting digital resources such as computers | Finding food assistance programs | Navigating insurance questions | Accessing equipment and supplies | Preparing for your first visit with a child neurologist ... and much more. Contact us using the Contact link on this website, and we will get you answers!

PREVENTIVE AND SYMPTOMATIC CARE

Living with Leukodystrophy is a great book providing details on how to manage symptoms and care for someone living with a Leukodystrophy. Use the link below to download an electronic copy of the book