Lysosomal storage disorders are very rare diseases, and about 50 diseases fall under this category. The Gaucher Disease, as well as Krabbe disease, are also lysosomal storage disorder diseases. People with such diseases or disorders are missing vital enzymes like protein. Without those enzymes, the lysosome cannot break down substances like carbohydrates, proteins, and old cell parts of a body. When it happens, the lysosome builds up in the cells and becomes noxious. They can damage the organs of the body and the cells as well. This write-up covers two of the most common lysosomal storage disorder.

About Krabbe disease

It is seen that patients diagnosed with Krabbe disease have nervous system disorder. It happens due to a lack of enzyme galactosylceramidase in the body. This enzyme plays a vital role in maintaining myelin, a protective coating around the nerve cells that helps the nerves to function. The symptoms of this disease start within the first few months after a child is born. Here are the symptoms:

  • Stiff limbs
  • Weakness in muscles
  • Trouble in walking
  • Hearing and vision loss
  • Muscle spasm
  • Seizures

 

When to get the treatment

The early symptoms and signs of Krabbe disease can indicate any development problem or disease in its early stages. Thus, it is essential to get an accurate & prompt diagnosis if your baby is having any symptoms or sign of the disease.

About Gaucher disease 

This disease is caused due to lack of GBA or glucocerebrosidase. The enzyme breaks down a fat known as glucocerebroside. Without GBA, fat starts building in the liver, spleen, and bone marrow. There are three types of Gaucher diseases, and the symptom of each varies. The general symptoms include:

  • Enlarged spleen and liver
  • Anemia
  • Easy bruising and bleeding
  • Severe tiredness
  • Pain in the bone leading to fractures
  • A problem in the eyes
  • Joint pain
  • Seizures

When to visit the doctor 

When individual experiences any of the gaucher disease symptoms, it needs immediate attention from the doctor. Though the disease is not curable, various treatments are available which can help in controlling the symptoms, improves life quality, and prevent irreversible damage. Some people experiences mild symptoms that do not even require any treatment.

As you visit the doctor, the doctor will mention routine monitoring which you must keep a close watch for disease complications and further progression. How often monitoring is required depends on the situation.

Many people diagnosed with Gaucher disease have seen considerable improvement in the symptoms after they start treatment with enzyme replacement therapy and osteoporosis drugs.

Visit an experienced doctor

When it comes to treating rare diseases like Krabbe or Gaucher, it is essential that you visit an experienced doctor. Taking a prior appointment is best as you do not have to wait in queue for long hours. As you visit the doctor, make sure that you divulge everything in detail. The doctor will ask many questions to do a proper diagnosis and recommend the right medication. All the questions should be answered correctly to receive the correct medication.