Gaucher's Disease
The Effects and What Does it Mean For Me?
The Side Effects
- Bone pain and fractures
- Cognitive impairment
- Easy bruising
- Enlarged spleen
- Enlarged liver
- Lung disease
- Seizures
- Severe swelling at birth
- Skin changes
- Heart valve problems
Type 1
Some symptoms include the Erlenmeyer flask deformity. This causes the knee joints to flare out and cause the thigh bones to look like a flask.
Type 2
Symptoms include enlarged spleen and liver. This causes hyperactivity and an abnormal decrease in red and white blood cells.
Type 3
Type three involves the rapid deterioration of the central nervous system. The breakdown of major organs also occurs in Type 3
What are the Chances
Every 1:50,000-100,000 are currently living with Gaucher's. It is extremely unlikely that you currently have the disease, but people with origins from Eastern and Central Europe have a higher chance of contracting it that any one else. Another factor that puts you at higher risk is if you have jewish heritage. The ratio for jewish families is currently 1:500-1,000
What Life Style Changes are Needed
This disorder can take a heavy toll on your physical health, so it is recommended that you stay away from intense labour and harsh workouts. Monthly visits to the doctor are now a mandatory to monitor more severe conditions that may developed due to this disease. Healthier eating is required to help sustain your red and white blood cell count too. These are all things that can help you cope with this disorder.
Enzyme Therapy
This is an option that physically puts the defictian enzymes into the human body. These are required every two week. While it is a very effective method it turns out to be a hefty toll on your wallet.
Surgery
(Splenectomy) This is a must! This needs to happen when the spleen swells to a size that the body no longer can sustain and it starts to fail. Since the spleen plays a key role in your immune system, removing it would cause you to be susceptible to fatal diseases such as streptococcus.
Blood Transfusion
This is when the blood of a healthy person is pumped into the bloodstream of the victim of Gaucher's. This puts the healthy and non-deficient white blood cells into the Gaucher's victim. This treatment may cause more harm than good, and on top of that it can rack up to be quite costly.