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Research > Genetics
CRISPR Gene Therapy for Rare Pediatric Disorders: What Families Need to Know
...deficiency, a rare metabolic disorder...rare metabolic disorder that prevents...families navigating rare pediatric diagnoses,...children with rare disorders won't...children with rare disorders won't qualify...powerful for rare disorders. Many...powerful for rare disorders. Many of these...work for every rare disorder. It's...for every rare disorder. It's most effective...
Research > Genetics
Chromosomal Microarray vs. Whole Genome Sequencing: Which Genetic Test Is Right for Your Child?
...small as 50,000 base pairs, which is enough to identify most chromosome disorders. CMA is the test that finds conditions like 22q11.2 deletion syndrome or...mutations (single-letter changes in DNA) that cause disease. If your child has a rare genetic condition caused by one broken gene, WES is more likely to catch...
Special Needs > Rare Disorders
Ending the Diagnostic Odyssey: How Whole Genome Sequencing Is Changing Rare Disease Diagnosis
The average rare disease diagnosis takes 5 to 7 years and visits to 8 different physicians....without knowing what they're dealing with. This pattern has a name in the rare disease community: the diagnostic odyssey. In 2026, whole genome sequencing...
Special Needs > Rare Disorders
IEP Advocacy for Children with Rare Disorders: When No One Has Done This Before
Your child has a rare disorder. The school... Your child has a rare disorder. The school district...need. A child with a rare metabolic disorder...with a rare metabolic disorder who fatigues after...into other buckets. Rare disorders with educational...other buckets. Rare disorders with educational impact...child's condition is so rare that it's undiagnosed...
Special Needs > Rare Disorders
Giant Congenital Nevus: Growing Up with a Birthmark That Covers Your Arm and Chest
A young man posted photos of his left shoulder, chest, and entire arm to Reddit last week. The birthmark covering all three is unmissable: dark pigmentation with thick hair growth throughout. The post collected 8,600 upvotes and hundreds of questions. His answers were matter-of-fact, sometimes funny...
Assistive Tech > Mobility
Tariffs Are Raising the Cost of Wheelchairs, AAC Devices, and Medications — What Families Can Do
...hardware comes from abroad. Specialty medications for rare diseases often depend on foreign active pharmaceutical...Pharmaceutical products: Specialty medications for rare genetic conditions, seizure disorders, metabolic...medications for rare genetic conditions, seizure disorders, metabolic diseases. Many rely on imported active...
Global Insights > Education
International Angelman Day: A Global Movement for Change
...individuals with Angelman syndrome and their families. Angelman syndrome is a rare neuro-genetic disorder that affects an estimated 1 in 15,000 people. It...Angelman syndrome and their families. Angelman syndrome is a rare neuro-genetic disorder that affects an estimated 1 in 15,000 people. It is characterized by developmental...
Special Needs > Rare Disorders
What Is Williams Syndrome?
...Williams syndrome is a rare genetic disorder that...is a rare genetic disorder that is characterized...Williams syndrome is a rare genetic disorder that...is a rare genetic disorder that was first identified...J.C.P. Williams. The disorder is characterized by...chromosome 7. The disorder is diagnosed using...Williams syndrome is a rare genetic condition...
Special Needs > General Special Needs
A Parents Guide To Understanding Tourette Syndrome
...Syndrome? Tourette syndrome is a neurological disorder that causes repetitive, involuntary movements and...Syndrome? Tourette syndrome is a neurological disorder that causes involuntary tics and vocalizations....involuntary tics and vocalizations. It is a relatively rare condition, affecting about 1 in 100 people. The...
Special Needs > Rare Disorders
Three Candles by Will Corcoran
...well as victims of child abuse. When Will Corcoran's son, Henry, was three years old, doctors not only diagnosed him with mitochondrial disease, a rare terminal illness, but also put a ceiling on his entire future. However, despite his ill-starred situation, Henry continues to live every day to the...
News > Lifestyle
Announcing: Shannon Rose and Triumph Over Adversity
...Shannon Rose has a life-threatening disorder called Ehlers-Danlos Syndrome. And...Ehlers-Danlos Syndrome, or EDS, an incurable disorder that affects the body's connective...a "glue" in the body. EDS is a rare disorder, and the general public (and..."glue" in the body. EDS is a rare disorder, and the general public (and even...
Parenting > The Early Years
Is Organizing and Sorting Normal for Children?
...activities, it might be a sign of OCD or even autism. Obsessive-compulsive disorder is rare in toddlers. If your child will not leave the house without completing...might be a sign of OCD or even autism. Obsessive-compulsive disorder is rare in toddlers. If your child will not leave the house without completing an...