How To Live With Gaucher Disease

Unfortunately, the rare genetic Gaucher disease is completely incurable. The main symptoms are an increase in internal organs and problems with the skeleton, including frequent fractures, osteoporosis.

Unfortunately, the rare genetic Gaucher disease is completely incurable. The main symptoms are an increase in internal organs and problems with the skeleton, including frequent fractures, osteoporosis. 

Without proper monitoring, it is impossible for a person with such a diagnosis in the anamnesis to live fully. To maintain comfort, the patient is prescribed expensive drugs for life-long administration.

Together with the experts of the educational portal rare-diseases.com.ua, we will tell you what the treatment of Gaucher's disease is like and how to live fully after the diagnosis of the disease.

Briefly about the diagnosis

The disease is rare - 1 case per 40,000 of the population, so it is difficult to diagnose, competent specialists are needed to select treatment. 

Gaucher disease appears as a result of a gene mutation, when a child inherits two defective genes from both parents. In the body of such people, there is a problem with the production of the glucocerebrosidase enzyme, which leads to the accumulation of glucocerebroside in various tissues and, as a result. - to chronic inflammation and hypermetabolism.

What are the symptoms of the disease

Unlike many hidden diseases, Gaucher can be recognized visually:

• enlarged stomach - the spleen and liver are enlarged inside;
• bruises and hematomas all over the body - due to a low level of platelets.

Bone and joint pain, lung damage, and neurological manifestations are frequent symptoms of Gaucher disease.

Enzyme replacement therapy

Since the disease is associated with a lack of enzymes, treatment is aimed at processing slags that accumulate due to enzyme deficiency. Therapy is usually well tolerated.

Additional therapy

According to patients with Gaucher's disease, bone pain and chronic fatigue are the biggest obstacles to normal life. Therefore, in addition to enzyme replacement therapy, patients need concomitant support of the body: 

• painkillers;
• physiotherapy to relieve pain in the spine;
• Vasodilating drugs for pulmonary hypertension.

Any treatment is prescribed by a doctor. In some cases, a hematologist, therapist, orthopedic surgeon, rheumatologist, geneticist, neurologist, and others participate in the appointment.

Having children - what are the risks?

When two carriers of Gaucher's disease plan a pregnancy, the probability of transmission to the child is 25%. The probability of the disease in a child increases to 50% if one of the parents has Gaucher disease, and the other is a carrier. 

In addition, during pregnancy, a woman may experience worsening of her own symptoms and severe anemia. Therefore, planning should be approached with full responsibility. 

In addition to medications, taking care of your body is important for Gaucher disease. Dietary nutrition and physical exercise are key factors that help strengthen bones and obtain nutrients necessary for health.