Recognizing October As Gaucher Disease Awareness Month

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Mr. DeLUZIO. Mr. Speaker Pro Tempore, I rise today to recognize that October is Gaucher Disease Awareness Month and spotlight the national patient advocacy organization, the Gaucher Community Alliance. Gaucher Disease is an ultra-rare genetic disorder that affects approximately 6,000 people in the United States. Gaucher Disease is the most common genetic disorder for persons of Ashkenazi Jewish ancestry. This disorder results from a build-up of fat laden Gaucher cells in organs such as the spleen and liver or in the bone marrow. As a result of this build up, the organs of people with Gaucher Disease can become enlarged, impeding their ability to function. If the bone tissue and bone marrow become affected, patients' bones will become weaker, making them more prone to fractures and ultimately could lead to bone death.

There are different forms of Gaucher Disease. Gaucher Type I accounts for 95% of patients in the United States. Patients with this specific type, experience spleen and liver enlargement including low blood counts and issues with the clotting process and various problems with their bones. The FDA has approved two types of treatments for Gaucher Type I, including enzyme replacement therapies (ERT) or oral substrate reduction therapies (SRT).

Gaucher Type 2 is rarer than Type I and is typically fatal within the first two years of life because of the severe neurological abnormalities associated with this type. Patients with Gaucher Type 2 suffer from poor development, seizures, jerking movements, poor ability to suck and swallow, as well as an enlarged liver and spleen. GCA hopes that a current clinical trial taking place to combat this terrible disorder that claims the lives of young, will show success.

Gaucher Type 3 is the most common Type worldwide and its severity falls between that of Type 1 and Type 2. Patients with Gaucher Type 3 suffer from a mix of symptoms from the first two types including seizures, skeletal irregularities, eye movement disorders, cognitive issues, poor coordination, an enlarged liver and spleen, respiratory problems, and various blood disorders such as anemia. It is important to note that patients can be characterized as having a blend of the types and not within a single category.

The Gaucher Community Alliance is the national nonprofit organization for the patient community, based in Western Pennsylvania. Two passionate Gaucher patient advocates founded GCA--Aviva Rosenberg of Pittsburgh, Pennsylvania and Cyndi Frank of Sonoma, California. The mission of GCA is to support patients with Gaucher Disease and their families through peer-to-peer support and education, advocacy, patient and family resources and networking. GCA collaborates with industry partners to encourage clinical trials for additional treatments and therapies; access to Patient Assistance Programs for Gaucher patients; and promote newborn screening for Gaucher Disease and other lysosomal storage disorders. GCA also hosts patient meetings around the country.

The Gaucher Community Alliance is working hard to improve the quality of life of those diagnosed with Gaucher Disease. I would like to salute the community during Gaucher Awareness Month.

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