Julia Smith was diagnosed with Glanzmann thrombasthenia (GT) at the tender young age of six months through a series of fortunate events.
First, her mother Helen, noticed her infant bruised very easily, which she knew wasn’t normal.
The second fortunate event happened when one of the few doctors in the United States who had treated a patient with GT happened to work in the same building as Julia’s grandmother and knew what they were dealing with.
On average, it takes six to seven years to receive a correct diagnosis for a rare disease like GT.
GT is a genetic disorder where the patient’s blood doesn’t properly clot, and in some cases, prolonged internal bleeding can become life-threatening. And as you know, rare diseases are largely ignored by the research community because significant funding is even more rare than the diseases themselves!
In the case of GT, there are only 300 known cases in the US, so Julia’s mother founded the Glanzmann’s Research Foundation. So far, the Foundation has raised and donated more than $300,000 toward research, and they continue to host fundraising events throughout the country.
Treatments for patients with GT can be quite expensive. Fortunately, help is available. For more information on getting financial assistance for treating GT, or any other medical condition, click here.