Rare Diseases Need Love, Too

In our efforts to bring exposure to rare disease research through our Rare Disease Challenge, we’ve learned that only about 5% of the rare diseases have FDA-approved therapies and of the 7000+ rare diseases, 50% of rare diseases affect children and 30% of those children die before the age of 5 years. We’ve recently come across a story about an American family with a 7-month old baby boy who has an extremely rare condition - so rare that there are only 14 total known cases in the world.

The vascular condition, called glomuvenous malformations plaque type, is caused by a missing glomulin gene. The illness causes blood vessels, skin, and muscles to harden and thicken; if left untreated, this illness can lead to heart failure. The condition is so severe, that the boy’s mother must be extremely cautious when handling him - even a hug could lead to fatal consequences.

Since the only known treatment is practiced by two Belgian doctors, who happen to be husband and wife, the family decided to relocate from the United States to Belgium in order to be able to get timely and affordable treatments for their bundle of hope. A registered nurse at the National Organization for Rare Disorders was quoted, “Once there is a treatment, families will go to any length to obtain treatment for their child.”¹ In this case, they’ll even move to a different country with no job or social network. The key here is that there needs to be treatments available.

On the one hand, it is fortunate that the child with this rare condition can undergo monthly treatments for a few years to alleviate the pain and hardening of the blood vessels so that he may live a normal life. On the other hand, many others who suffer from other rare diseases are still waiting for those therapeutic breakthrough discoveries.

Scientist continues to accelerate the research in rare diseases and many other therapeutic areas in hopes of prolonging lives and bringing forth a generation of drug discovery where diseases of all kinds receive adequate tender loving care.