Free Summer Conference for Young Adults Living with Metobolic/Genetic Conditions


The Face Forward is for young adults with rare genetic, metabolic, and mitochondrial conditions. The mission of the project is to develop leadership, advocacy and life skills, in order to achieve good health, positive behavior, socioeconomic success and civic engagement. It is for young adults […]


Shire is proud to introduce the Shire ACES Scholarship Program! This program recognizes academic achievement in the lysosomal storage disease (LSD) community. High-school graduates or GED credential recipients who have been diagnosed with an LSD are eligible to apply. A $5000 scholarship will awarded for […]

Family Shares Story of Living with a Rare Condition


At eight years of age, Tommy Glatzmayer is two years younger than his sister Melanie, but he has always been protective of her. Melanie was born with a condition that sets her apart from other kids her age. Born with Cornelia de Lange Syndrome (CdLS), […]

CRUCIAL QUEST: Parents helping organize study to help find a cure for their son with a rare disease.

Seeking a Cure for Jonah By Jose Bayona Brooklyn -Jonah Weishaar looks like a normal, healthy two year old as he giggles while running around a playground near his Brooklyn home.  But his parents, Jill and Jeremy, know their son is in a race against […]

Happy Birthday, Tarsila! We Wish You A Diagnosis.


We posted previously about Tarsila, a little Brazilian girl with a long and complicated medical history (post here). Tomorrow, October 14, Tarsila turns two. She now has five teeth, and lately she even tries to talk, get up and grab whatever objects she can find. […]

Families look to orphan drug development at University of Minnesota

Orphan diseases affect 25 million people in the United States. By Taylor Selcke, MN For Michael Zimanske, years of holidays and birthdays spent in hospitals began after a routine kindergarten check-up. The doctor said he wasn’t growing like a normal 5-year-old, and full body […]

Announcing the Launch of an Online Gallery for Artists Affected by Rare Diseases

Announcing the Launch of an Online Gallery for Artists Affected by Rare Diseases Art is the expressive medium that we all use when capturing the trials and triumphs of our human existence. For rare disease patients, life’s meaning takes on the greater significance that […]