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August 3, 2022

TOPIC: Press Releases, Registries

All Things Kabuki and NORD® Launch Natural History Study of Kabuki Syndrome

Posted by Rohan Narayanan

Wasilla, Alaska, August 3, 2022All Things Kabuki and the National Organization for Rare Disorders, Inc. have launched a study with global reach to research Kabuki syndrome, which causes a variety of complications which may include mild to moderate intellectual impairment, growth delay, skeletal abnormalities, heart defects, hearing impairment, hypotonia, feeding and immune deficiencies. Kabuki syndrome currently has no… Read More

August 1, 2022

TOPIC: Patients & Members

NORD to Host Historic FDA Meeting on Galactosemia, in Partnership with the Galactosemia Foundation

Posted by Rohan Narayanan

A historic, virtual meeting of the galactosemia community, FDA, and drug development leaders will be hosted on Thursday, September 1st  

Galactosemia is a rare, hereditary disorder that affects the body’s ability to convert galactose to glucose. Galactosemia affects 1 in every 40,000 to 1 in 60,000 newborns around the world. The… Read More

July 29, 2022

TOPIC: Patient Stories

Rebekah’s Rare Story: How Mrs. Massachusetts Petite Spreads Hope & Awareness

Posted by Julie Ostroff
Rebekah standing in front of a pink background wearing a crown and a sash that reads "Petite USA Mrs. Massachusetts." Image reads "Rebekah Britto Platform: National Organization for Rare Disorders (NORD) 'A disease may be rare but hope should not be.'"

I’m Rebekah Britto, Mrs. Massachusetts Petite 2022, and I have both Chiari malformation and Ehlers-Danlos syndrome (EDS). My rare disease journey began in 2013, when I started struggling with symptoms including passing out, vertigo, tinnitus, vision disturbances, and more. It took about a year of going back and forth between medical teams and Boston’s Massachusetts General Hospital neurosurgeons to… Read More

July 19, 2022

TOPIC: Advocacy, Get Involved, Featured News

Take Action on July 19: Help End Harmful Step Therapy Policies By Urging Congress to Support the Safe Step Act

Posted by Valaree DonFrancesco

On Tuesday, July 19, join rare disease advocates and coalition partners across the nation for a social media day of action to urge Congress to pass the Safe Step Act (HR 2163/S 464). This bill would help people with rare diseases access prescribed medications in a safe and timely manner, by ensuring step therapy is appropriately utilized. Too… Read More

July 12, 2022

TOPIC: Medical, Advocacy, Get Involved

Take Action: Share Your Story with the White House and Help Explain Why Medical Nutrition Is Critically Important

Posted by Valaree DonFrancesco

Many people with rare diseases require medical nutrition prescribed by a healthcare provider to prevent permanent disability and mortality, allow for normal growth in children and adults, or provide adequate nutritional intake. Despite medical necessity, many insurers do NOT cover medical nutrition. As a result, people with certain rare diseases and their families are left to face the extraordinary cost of their… Read More