Gaucher’s disease no longer a death sentence

As the country observes Gaucher’s Disease Awareness Month this October, the West Virginia-based National Gaucher Foundation is hosting an online awareness campaign to promote the importance of education and awareness.

The NGF said the goal is to have by Oct. 31, at least 1,000 downloads of the “Awareness” logo (gaucherdisease.org/images/LogoCopy) to family, friends, coworkers, congregations and organizations and ask them to use it in their e-mails and/or their Gaucher Awareness projects.

The NGF also would like to impress on the public that having Gaucher’s disease is no longer a death sentence as there are currently many options, tools, treatments and programs available for those with the disease.

Gaucher’s disease affects the lysosomes, which are the so-called garbage recyclers of our cells. If something interferes with their function, waste products will accumulate over time, causing the individual to experience stunted growth, painful and brittle bones, an enlarged liver and spleen, extreme fatigue, bruising at the slightest touch, and nosebleeds.

Misdiagnosed

All too often, a child will be misdiagnosed as having life-threatening condition like leukemia, cystic fibrosis or even autoimmune disease. It would take years before proper diagnosis could be made since these symptoms can be vague and can overlap with other conditions.

Indeed, life may be tough for individuals who suffer from Gaucher’s disease, a rare and inherited disorder wherein the deficiency of enzyme called beta-glucocerebrosidase (that is produced in our cells) results in the accumulation of a fatty substance called glucocerebroside into a sugar and a simpler fat molecule throughout the body, more often in the bone marrow, spleen and liver.

Progress and great strides

Because of the progress and great strides that have been made, the organization stressed that Filipino children may never have to suffer the debilitating and painful affects of Gaucher’s disease.

There are currently 10 patients in the country diagnosed with this disease since 2003. This number is expected to rise once more Filipinos are able to learn to identify its symptoms and be able to seek help.

The things that family members or friends should watch out for in a child or adult individual include:

• easy bleeding and bruising;

• excessive fatigue;

• anemia (abnormal blood tests such as too few red blood cells and/or platelets);

• weak bones fracturing too easily (abnormalities on X-ray images such as bone deformity);

• bone and joint pain;

• enlargement of the belly through increase in the volume of spleen and liver.

One should remember that Gaucher’s disease is progressive and, if left untreated, will usually become worse over time.

Treatment currently available depends on the type of Gaucher disease and the symptoms and signs of the disease. For those individuals with type 1 Gaucher disease, treatment may include enzyme replacement therapy (glucosylceramide synthase inhibitors), which is indicated for the long-term treatment of adult patients.