Resources:
Community, Leukodystrophy Centers & Genetic Reports
TUBB4A-related leukodystrophy patients often require a range of therapies and visits to specialists to address symptoms. The extensive care demands can leave caregivers feeling drained, overwhelmed, and socially isolated. The impact of TUBB4A mutations extends beyond symptom management, affecting various aspects of family life. It's essential to build a support network, including family, friends, therapists, and respite care. Don't hesitate to seek help and share your feelings. Connect with other parents and legal guardians facing similar challenges by joining the private TUBB4A Parent Facebook group for support and understanding.
Understanding your Genetics Report
Understanding a genetic test report can feel overwhelming at first, with all the technical terms and symbols. If you're puzzled by your report, a genetic counselor is the best person to help decode it. Still, we know you might have more questions afterward, so we've put together this guide to offer further assistance.
Leukodystrophy Centers
These are some notable centers around the world that specialize in the diagnosis, treatment, and research of leukodystrophies:
Kennedy Krieger Institute, Johns Hopkins Medicine
Baltimore, Maryland
Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania
National Institutes of Health (NIH)
Bethesda, Maryland
Mayo Clinic
Rochester, Minnesota
Children's Hospital Boston
Boston, Massachusetts
UCSF Benioff Children's Hospital
San Francisco, California
Great Ormond Street Hospital
London, England
Hospital Sant Joan de Déu Barcelona
Barcelona, Spain
San Raffaele Scientific Institute
Milan, Italy
Please note that availability of services and expertise may vary among these centers, and it's advisable to contact them directly for specific information regarding leukodystrophy care and research. Additionally, new centers may emerge over time, so it's worth keeping an eye on the latest developments in the field.
Organizations you might find helpful:
n-Lorem Foundation
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IPSEN Cares
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HopeKids
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n-Lorem Foundation ~ IPSEN Cares ~ HopeKids ~