Event organised to spread awareness about rare disease Gaucher

In the backdrop of the International Gaucher Day, Lysosomal Storage Disorders Support Society (LSDSS), a patient group for Lysosomal Storage Disorders (LSDs) organised a Gaucher disease awareness event here.

Gaucher is a rare disease, usually affecting small children causing them to suffer with symptoms like joint pain, disoriented speech, spleen enlargement and a very costly treatment.

The aim was to raise awareness about Gaucher as a disease and its symptoms, to support the Gaucher community at large and to appeal to the Kerala government to provide funds for treatment of patients with LSDs.

Patients in Kerala suffering from Gaucher disease, their families, eminent doctors treating patients with LSDs - Dr. Sheela Nampoorthiri, Clinical Professor, Dept. of Ped. Genetics, Amrita Institute of Medical Science, Dr. Vijaya Kumar, Incharge of Haemophilia Centre, District Hospital, Aluva and Dr. Shankar V.H, Associate Professor, Consultant Geneticist S.A.T Hospital, were present at the event. The occasion was also graced by Anwar Sadath, MLA Aluva and P. Rajeev (Ex- M.P.)

 

"Gaucher disease is a rare but serious genetic condition and patients with this disorder lead a debilitating life. But the good news is that treatment with Enzyme replacement therapy is available and approved in India for the disorder through which patients can lead a near normal life. Our purpose of organising this event is to highlight the positive transformative change which timely treatment with enzyme replacement therapy can bring and showcase how effective government intervention and support can help patients' access treatment at the right time. In this regard, we would like to appeal to the Government of Keralato take concrete steps to fund treatmentfor the patients suffering from LSDs ", said ManojM (LSDSS- Kerala Chapter).

"Gaucher is a life-threatening condition and the diagnosis is often difficult due to varying symptoms. It is one of the very few LSDs for which treatment is available and thus, the timely diagnosis of this disease is important. If diagnosed at the appropriate time, the patients can be provided treatment which has shown to have a very positive impact," said Dr. Sankar V.H, Associate Professor, Consultant Geneticist S.A.T Hospital

Further commenting on the need for government intervention, Dr. Sheela Nampoorthiri, Clinical Professor, Dept. of Ped. Genetics, Amrita Institute of Medical Science said, "Patients suffering from Gaucher disease cannot afford its treatment due to thethe high and recurrent cost. In some cases, the annual cost of treatment may go uptoRs.50 lakhs- 1 crore depending on the age and weight of the patient. In the light of this, we need help from the government so that treatmentcan be provided to such patients. We would like to applaud the Central government for approving the "National Policy for Rare Diseases" which recommends the forming of a Rs. 100 crore corpus fund for rare disease patients. Now, it is time for the Kerala government and other state governments to work in sync with the Central government to utilise this corpus for the benefit of patients. The allocation and the utilisation of this fund should be the priority."

Gaucher's disease is a genetic condition wherein waste material gets deposited and build up in different organs and bones of the body. There are approximately 50 rare genetic disorders known as Lysosomal Storage Disorders (LSD) and Gaucher is the most common one.

Explaining about the disorder, Dr. Vijaya Kumar, Incharge of Haemophilia Centre, District Hospital, Aluva said, "People with Gaucher's disease lack an important enzyme which breaks down a specific type of fat molecule. Thus, this causes the accumulation of fat in the cells which is then manifested in the form of various symptoms like enlargement of spleen, fatigue, bone and joint pain, anemia etc. Since the symptoms are varied, it often becomes difficult to diagnose it and the treatment gets delayed. It is very important to understand that timely treatment is crucial so that the patients can lead a quality life. An event like this is a very good way of spreading awareness in this regard."

The event was also a platform for the patients to discuss their individual challenges and journey. It served as an opportunity for them wherein they were able to draw inspiration from each other's struggles and the positive stories.