Transforming lives through rare disease research

CRDC’s commitment

These success stories underscore the Children’s Rare Disease Collaborative’s (CRDC) dedication to advancing the understanding and treatment of rare diseases. By identifying genetic causes and developing tailored care plans, the CRDC continues to improve the lives of affected children and their families.

Lifelong diarrhea and stunted growth

A genetic mutation identified in a child with lifelong diarrhea and stunted growth pointed to excess production of bile acids in the intestine and liver. Medications designed to reduce bile acids have significantly improved the child’s quality of life.

Learn more about the Congenital Diarrheas and Enteropathies study.

Hereditary spastic paraplegia diagnosis

A 2-year-old girl is only the fourth person in the world known to carry a mutation in a gene newly associated with hereditary spastic paraplegia. Her diagnosis led to changes in her care plan, including:

  • Regular monitoring of liver function.
  • Avoiding medications that could trigger liver failure.

The clinical and research teams are collaborating internationally to investigate this gene further.

Learn more about the Hereditary Spastic Paraplegia study.

Genetic insight after tragic loss

A genetic autopsy of a baby who died suddenly and unexpectedly revealed a genetic variant associated with epilepsy. This finding reassured the parents that their child’s tragic death was due to a medical condition, not their parenting.

Learn more about the Sudden Unexplained Death study.

Diagnosing an ultra-rare neurodevelopmental disorder

A patient initially diagnosed with ADHD and anxiety-based feeding difficulties was later found to have an ultra-rare neurodevelopmental disorder. The diagnosis clarified that:

  • Feeding difficulties were linked to the identified gene variant, not anxiety.
  • Clinicians and the family could better prepare for future services and supports.
  • Awareness was raised about potential risks for other family members.

Learn more about the Social and Cognitive Functioning Disorders study.