[Congressional Record Volume 169, Number 175 (Tuesday, October 24, 2023)]
[Extensions of Remarks]
[Page E1005]
From the Congressional Record Online through the Government Publishing Office [www.gpo.gov]





         RECOGNIZING OCTOBER AS GAUCHER DISEASE AWARENESS MONTH

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                      HON. CHRISTOPHER R. DeLUZIO

                            of pennsylvania

                    in the house of representatives

                       Tuesday, October 24, 2023

  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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