Special Needs

Articles

...CPS1 deficiency, a rare metabolic disorder...families navigating rare pediatric diagnoses,...most children with rare disorders won't qualify...genetic cause of a disease rather than managing...makes it powerful for rare disorders. Many of...mutation, you can stop the disease progression. But CRISPR...doesn't work for every rare disorder. It's most...

...good at finding point mutations (single-letter changes in DNA) that cause disease. If your child has a rare genetic condition caused by one broken gene, WES...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...

...infrastructure. For families navigating cerebral palsy, fragile X syndrome, or rare genetic conditions, the funding picture looks different. NIH cerebral palsy...patient populations don't generate the donor urgency that cancer or heart disease do. Academic prestige doesn't cluster around disability research the way...

The average rare disease diagnosis takes 5 to... The average rare disease diagnosis takes 5 to 7 years...This pattern has a name in the rare disease community: the diagnostic...pattern has a name in the rare disease community: the diagnostic odyssey....code for proteins, and some disease-causing variants hide in those...

...feel overwhelming. Pediatric MS is rare (roughly 3–5% of all MS cases begin...into a world of neurologists, MRIs, disease-modifying therapies, and school meetings...Multiple sclerosis is an autoimmune disease where the immune system attacks myelin,...on is real. It's also why starting disease-modifying therapy early matters. Recognizing...

...12 to 15 years on average. That timeline holds across conditions, though rare disease drugs can move faster under specific circumstances. The process...15 years on average. That timeline holds across conditions, though rare disease drugs can move faster under specific circumstances. The process isn't arbitrary....

...abroad. Specialty medications for rare diseases often depend on foreign active...abroad. Specialty medications for rare diseases often depend on foreign active pharmaceutical...products: Specialty medications for rare genetic conditions, seizure disorders,...conditions, seizure disorders, metabolic diseases. Many rely on imported active ingredients...

...ankle stopped working. The diagnosis was pigmented villonodular synovitis, a rare joint disease that fills a joint with tumors and erodes cartilage from the...working. The diagnosis was pigmented villonodular synovitis, a rare joint disease that fills a joint with tumors and erodes cartilage from the inside. His...

...developing new ways to prevent, detect, or treat diseases and conditions. Clinical trials often need volunteers...such as those with developmental disabilities or rare diseases, can especially benefit from new treatments...as those with developmental disabilities or rare diseases, can especially benefit from new treatments uncovered...

...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,...years old, doctors not only diagnosed him with mitochondrial disease, a rare terminal illness, but also put a ceiling on his entire future. However,...

...wrong with him. When Adam was 18 months old, he had been diagnosed with a rare childhood inflammatory disease called Kawasaki syndrome. After six months...18 months old, he had been diagnosed with a rare childhood inflammatory disease called Kawasaki syndrome. After six months he improved, but he had sensitivities...

...tumors of four children with retinoblastoma, a rare type of eye cancer. The results pointed to a gene...as SYK, which could be targeted for treating the disease. If the gene could be turned off, perhaps the growth...genomes sequenced to look for clues to curing the disease. The price of tests continues to fall, and...