Patient and Family Resources

Following is a list of rare diseases we focus on at the Pediatric Rare Disease Center, along with corresponding resources specific to each rare disease. We are currently offering quarterly clinics for patients with Fabry and adrenoleukodystrophy (ALD). To learn more about our Fabry and ALD-specific clinics, navigate to the clinic link under the Fabry and ALD tabs. 

Don't see a resource below that has helped you or your family? Let us know and we will add it to our list.

VUMC NBS Progress

 

  • VUMC Adrenoleukodystrophy Clinic - The ALD Clinic is one of the specialized clinics offered by VUMC's Rare Disease Center within our Children's Hospital. This clinic is a collaboration between the Divisions of Neurology, Endocrinology, Hematology/Oncology, and Genetics and Genomic Medicine in the Department of Pediatrics. We diagnose and treat children, teens, and adults with this peroxisomal metabolic disorder.

    Patient & Family Resources

    • ALD Connect - ALD Connect is a non-profit organization that brings together patients, families, physicians, scientists, advocates, and industry. 
    • ALD Alliance - The ALD Alliance helps families across the United States that are newly diagnosed with ALD by giving them the resources they need to fight this rare and devastating disease. 
    • The Stop ALD Foundation - This foundation focuses on accelerating the process of developing new knowledge and therapies for ALD.
  • VUMC Program for Pediatric Differences in Sex Development - Vanderbilt established the Program for Pediatric Differences in Sex Development (DSD) to bring the expertise of specialists in many disciplines to the care of children with all conditions related to differences in sex development, including Congenital Adrenal Hyperplasia.

  • VUMC Pediatric Heart Institute - Our cardiologists at the Pediatric Heart Institute diagnose and treat children with minor and complex heart problems including Critical Congenital Heart Disease. We coordinate care with your child’s doctor and support your family from initial consultation to follow-up. 

  • VUMC Pediatric Cystic Fibrosis Diagnosis and Treatment Center - Our Cystic Fibrosis Foundation-accredited program is committed to the highest standards with aggressive, guidelines-driven clinical care required for optimal health for our patients with CF. Our services range from accurate testing and diagnosis to the latest therapies and approaches being developed in clinical interventional and observational trials.

  • VUMC Fabry Clinic - The Fabry Clinic is one of the specialized clinics offered by VUMC's Rare Disease Center within our Children's Hospital. This clinic is a collaboration between the Divisions of Neurology, Cardiology, and Genetics and Genomic Medicine in the Department of Pediatrics. We diagnose and treat children, teens, and adults with this lysosomal storage disease.

    Patient & Family Resources

  • VUMC Leukodystrophy Care Network - Vanderbilt established the Leukodystrophy Care Network (VLCN) in 2017 to bring the expertise of specialists in many disciplines to the care of children with Krabbe and similar severe diseases.

    Patient & Family Resources

    • Krabbe Connect - A Foundation that provides a platform to amplify the voice of patients, aiding researchers, and drug developers in accelerating research for better treatments for Krabbe disease. 
    • The Legacy of Angels Foundation - Improving the lives of children by working to promote the expansion of newborn screening, and to further education, awareness, and research of Krabbe disease and Cystic Fibrosis to provide a better treatment and cure. 
    • Partners for Krabbe Research - A foundation designed to increase awareness and to support research to improve the lives of those born with Krabbe Disease.
  • VUMC Leukodystrophy Care Network - Vanderbilt established the Leukodystrophy Care Network (VLCN) in 2017 to bring the expertise of specialists in many disciplines to the care of children with severe diseases including MLD.

    Patient & Family Resources

    • MLD Foundation - A non-profit organization formed in 2001 to serve families throughout the world affected by MLD. 
    • Cure MLD - A resource for families facing a diagnosis of MLD.
  • VUMC Comprehensive Hematology, Immunology, and Infectious Disease Program - The Comprehensive Hematology, Immunology and Infectious Disease Program (CHIIP) at Vanderbilt brings together expert physicians from multiple specialties to treat children with rare disorders of the immune and blood systems. Our CHIIP team strives to provide your child the best care, and to be national leaders in treatment, as well as educating the next generation of physicians and researching immune and blood systems disorders.

  • VUMC Sickle Cell Disease Center of Excellence - Our Sickle Cell Disease Center of Excellence team of healthcare professionals is dedicated to providing quality care for children and adults with sickle cell disease. Our mission is to provide a medical home setting, the best available medical care, and educational support and research for all children, adults, and  families whose lives are affected by sickle cell disease.

  • VUMC Pediatric Neuromuscular Clinic - The Neuromuscular Clinic offers an interdisciplinary team approach toward diagnosis and management of children with a range nerve and muscle disorders. The clinical team includes neuromuscular disease specialists, physical therapists, equipment vendors, social workers, and case managers.

    Patient & Family Resources

    • Cure SMA - Cure SMA leads the way to a world without SMA. We fund and direct comprehensive research that drives breakthroughs in treatment and care, and we provide individuals with SMA and their families the support they need for today. 
    • SMA Foundation - The SMA Foundation aims to accelerate the development of treatments for SMA
    • Biotinidase Deficiency
    • Congenital Hyperthyroidism
    • Galactosemia
    • Gaucher
    • Mucopolysaccharidosis (MPS) 
    • Phenylketonuria (PKU) 
    • Pompe