Gaucher, considered a rare, life-threatening disease, affects 1 in every 40,000 to 60,000 individuals, and in most cases, the disease is misdiagnosed, which is just what happened to 18-month-old Tamara Ciocci.
After years of odd symptoms, such as bone pain and fatigue, and misdiagnoses, Tamara was finally diagnosed with Gaucher disease.
Gaucher disease hinders the productivity of a certain enzyme that breaks down fatty substances known as lipids. This causes a build-up of fat in the body.
Symptoms typically include:
- Bone pain
- Fatigue
- Enlarged spleen/liver
- Easy bruising
- Anemia
- Lung disease
The FDA just approved the first oral drug for Gaucher patients called Cerdelga, which is hoped to help breakdown the lipid level in the body and lower the risk developing complications.
Tamara is now married with two children, and suffers much less from Gaucher symptoms. In fact, her spleen and liver are not as enlarged anymore. “They would say I don’t know if she’s going to make it to 30, then I don’t know if she’s going to make it to 40, then with enzyme replacement and now Cerdelga, it has rewritten where I am at now,” Tamara said to WTNH Connecticut News.
To learn more about Gaucher, visit the Gaucher Foundation website.
Established in 1984, the Foundation helps patients and loved ones find financial assistance, treatment, physicians, and current information related to Gaucher disease. What’s more, they have invested millions of research dollars in Gaucher treatments, cures, and medical breakthroughs.
