Transforming lives through rare disease research
Below are summaries of patient success stories made possible by the Boston Children’s Rare Disease Collaborative (CRDC). These success stories underscore the 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. To read the complete stories, click on the “Read more” links to the study-specific pages.
Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies. With over 13,000 patients enrolled, the CRDC has diagnosed 15% of patients, many of whose diagnoses have led to informed treatment and care. For more information about the CRDC, please visit our home page.
Brain Malformations – A novel discovery in lissencephaly diagnosis
After years of uncertainty, a young boy with developmental delays and a smooth brain pattern finally got answers. Genetic testing uncovered a previously missed mutation, helping his family understand his condition and find a path forward. This discovery, led by Drs. Diane Shao and Chris Walsh, has helped shape how similar conditions are now diagnosed.
Unexplained Epilepsies – Ending a 20-year diagnostic odyssey
For over two decades, a young woman and her family searched for the cause of her epilepsy. Thanks to advances in genetic testing, they finally found the answer—and a supportive research community—through the work of Dr. Annapurna Poduri and her team.
Infantile Epilepsy – How wilson’s diagnosis transformed his treatment
Wilson began having seizures on his first day of life. Despite every treatment tried, nothing helped—until a precise diagnosis changed everything. Dr. Alissa D’Gama and her team’s research led to a treatment that stopped Wilson’s seizures for good.
Sudden Unexplained Death in Pediatrics – Finding meaning in a tragic loss
After losing their toddler suddenly, one family was left with painful questions. A detailed genetic evaluation by Drs. Richard Goldstein and Ian Holm helped uncover a likely cause and gave the family peace, support, and answers for the future.
Cerebral Palsy – Perinatal stroke due to col4a1 mutation
A young man who had lived with cerebral palsy his whole life discovered that his condition was genetic, not from birth complications. Dr. Siddharth Srivastava’s team helped uncover the true cause and guided new care to protect his vision, kidneys, and heart.
Cerebral Palsy – Glut1 deficiency uncovered in adulthood
After 30 years of living with cerebral palsy, a woman finally learned she had GLUT1 deficiency—a treatable condition. The discovery, made by Dr. Srivastava and his team, opened up new care options and gave the family long-awaited clarity.
Cerebrovascular Disorders – Cavernous malformations explained by krit1
A young boy with epilepsy was found to have a specific gene mutation linked to brain vessel malformations. This helped not only in treating him but also in checking his family members, thanks to work by Dr. Siddharth Srivastava’s team.
Hereditary Spastic Paraplegia – A rare diagnosis leads to international collaboration
When a little girl in Sweden showed signs of a movement diSORDer, her family found no answers—until they joined a study with Dr. Darius Ebrahimi-Farkhari. The team found a rare gene change and connected with researchers around the world to learn more.
Infantile Nystagmus – Achromatopsia diagnosis
When their baby’s eyes started moving uncontrollably, one family feared the worst. Thanks to quick genetic testing, Dr. Mary Whitman’s team diagnosed Achromatopsia—giving the family clarity, support, and tools to help their child see better.
Infantile Nystagmus – Idiopathic nystagmus and good prognosis
A 9-year-old with lifelong eye movement issues was finally diagnosed with a mild, inherited form of nystagmus. Dr. Mary Whitman helped reassure the family that no other issues were involved—and that good vision was expected.
Sensorineural Hearing Loss – Niemann-pick diagnosis opens trial access
A girl with hearing loss and multiple health issues got a surprising diagnosis—Niemann-Pick disease—thanks to Drs. Margaret Kenna and Eliot Shearer. The finding gave her a chance to join a clinical trial and receive new treatment.
Childhood Hearing Loss – New gene discovery in pkhd1l1
A family searching for answers about their child’s hearing loss got one—plus hope for the future. Dr. Eliot Shearer’s team identified a new gene, opening doors to possible gene therapy down the road.
Neurodevelopmental Disorders – Adhd, feeding issues, and a genetic discovery
A child struggling with ADHD and feeding issues was found to have a rare genetic condition, helping the family better understand his needs. This discovery came from research by Dr. Ryan Doan.
Chronic Pain Syndromes – Solving pain insensitivity through genome sequencing
A child who couldn’t feel pain finally had an explanation—an overlooked genetic change. Thanks to Drs. Charles Berde and Catherine Brownstein, her family now knows what to expect and how to care for her safely.
Precocious Puberty – The genetic answer behind early puberty
When a 7-year-old started puberty early, her family wanted to know why. Genetic testing through Dr. Stephanie Roberts’ research found the cause and helped pause her development until the right time.
Idiopathic Short Stature – Unlocking a multigenerational diagnosis
A young boy’s short stature turned out to be inherited. With help from Drs. Jia Zhu and Joel Hirschhorn, his family now understands the condition and can receive treatment that improves his growth and health.
Congenital Diarrheas – Bile acid malabsorption discovery
After years of pain and poor growth, a young boy finally found relief. Dr. Jay Thiagarajah’s team discovered a rare genetic condition that explained his symptoms and led to treatment that changed his life.
Congenital Diarrheas – Rare ttc37 mutation ends diagnostic journey
After nine incorrect diagnoses, Laila finally had an answer: a rare condition confirmed by genetic testing. Dr. Jay Thiagarajah’s team helped guide her care and gave her family clarity.
Inflammatory Bowel Disease – A world-first discovery in ficolin 3
When traditional treatments didn’t work, a young girl underwent genetic testing that led to a world-first diagnosis. Dr. Scott Snapper’s team helped uncover the reason behind her rare form of IBD.
Glomerular Disease – Searching for the genetic cause of nephrotic syndrome
Families of children with kidney disease often live without answers. Dr. Matthew Sampson’s ongoing research gives these families hope and works to uncover the causes of their child’s condition.
Bladder Exstrophy – Henry’s journey to healing
Born with a rare bladder condition, Henry traveled across the world for life-changing surgery. With care from Drs. Ted Lee, Nina Mann, Richard Lee, and Joseph Borer, he recovered beautifully and continues to thrive.
Interstitial Cystitis – Connecting skin and bladder pain
A woman with severe bladder pain got unexpected answers through genetic research. Dr. Catherine Brownstein’s team found a connection between her symptoms and a skin condition, opening up new treatment ideas.
Myopathies and Dystrophies – A teenager’s long road to a rare diagnosis
After years of unexplained symptoms, a teenager finally learned he had SORD deficiency—a newly discovered condition. Dr. Alan Beggs’ research helped provide answers and hope for treatment.
Myopathies and Dystrophies – A diagnosis 30 years in the making
After a lifetime of searching, one man received a diagnosis for his muscle condition thanks to Dr. Alan Beggs’ lab. The discovery opened the door to community support and research participation.
Myopathies and Dystrophies – From diagnosis to hope for treatment
William was born with a rare muscle disease and became part of research from day one. Dr. Alan Beggs’ team has used his story to help drive new treatments forward.
Anemias And Iron Disorders – A new gene, a new path forward
A 6-year-old boy with anemia and frequent infections finally got answers through genetic testing. Dr. Mark Fleming’s team identified a rare condition that led to treatment and a healthier future.
NICU – Genomic answers for a critically ill newborn
Born with multiple complications, a baby in the NICU became part of a research study. Dr. Sarah Morton’s team gave the family hope, direction, and the chance to help others by sharing their journey.