My name is Tanya Lewis, and I’m writing on behalf of My son Jace Scott. Last month, the youngest member of my family was diagnosed with Gaucher’s Disease likely type 2.
- Type 2. This form of the disease affects babies by age 3 to 6 months. It is fatal. In most cases children don’t live beyond 2 years old.Gaucher disease is passed down from parents to children (is inherited). It is caused by a problem with the GBA gene. It is an autosomal recessive disorder. This means that each parent must pass along an abnormal GBA gene for their child to get Gaucher. Parents may have only 1 GBA gene and, therefore, not show any signs of the disease, but be carriers of the disease. Gaucher disease type 1 is most commonly found among Ashkenazi Jews who have a high number of carriers of the defective GBA gene.
- HOW GRACHER DISEASE DIAGNOSED.To make a diagnosis, your healthcare provider will look at your overall health and past health. He or she will give you a physical exam.
Your provider will also look at:
- Your description of symptoms
- Your family medical history
- Blood test results
How is Gaucher disease treated?
There is no cure for Gaucher disease. But treatment can help you control your symptoms.
Your treatment will depend on what type of Gaucher disease you have. Treatment may include:
- Enzyme replacement therapy, which is effective for types 1 and 3
- Medicines
- Regular physical exams and bone density screening to check your disease
- Bone marrow transplant
- Surgery to remove all or part of your spleen
- Joint replacement surgery
- Blood transfusions
Jace is currently being enrolled in a clinical trial in Oakland Ca.
Where a team of medical professionals will be working extensively to give Jace a chance.
I am appealing to the hearts and kindness of you all to help me, and family raise $60,000, which is the amount needed to support this life-saving treatment.