In the beginning, Shruthi’s growth rate was normal then she started falling sick and the visits to the hospital became more frequent, and she was eventually diagnosed with Gaucher’s Disease.
When She was eight months old she started to have stomach pain and bulging problems. As time passed, we realized that our daughter did not reach the development milestone of other babies.
By the time she was two her tummy was enlarged, Shruthi was very weak and had to be hospitalized regularly. She was not able to walk or jump like any other child, we consulted various doctors. However, no one was able to give a proper diagnosis.
When Shruthi turned 3 Years and 6 Months she started to the complaint on intolerable stomach pain and joint pains, she was hospitalized and several tests were done, her biopsy results revealed that she had Lysosomal Storage Disorder which leads to accumulation of glucocerebrosidase in liver, spleen, bone and other macrophage systems.
The doctor told this is a type of Lysosomal Storage Disorder characterized clinically by hepatosplenomegaly, growth retardation, pancytopenia, secondary to hypersplenism and episodic bone crisis, this untreated disease is universally fatal. The specific treatment for this disease is Enzyme Replacement Therapy (ERT) and the approximate cost of ERT at her weight of 14kg is 50 Lakhs per annum. The therapy is life long and the cost of therapy increases in age and growth.
The world collapsed around us, we kept searching for the medication in vain and we were heartbroken. In desperation, we took her to see many doctors and religious seers. Shruthi continued to fall sick often and her platelets counts were going down on every passing day. We also noticed some change in her eyesight and later diagnosed as ocular motor apraxia in which she used her head thrust to initiate vertical and horizontal saccades. Her backbone started to get collapsed. She has generalized epilepsy and her spleen was massively enlarged.
In the year 2017 December, she has undergone partial splenectomy surgery which is just prevention and ERT is the lifesaver. We tried to procure medicine from abroad, but it was too expensive. Genzyme corporate develops the Drugs ERT which has to be given every 15 Days.
Her health condition is worsening day by day, as per doctor advise ERT should be given to Shruthi as soon as possible and It is highly expensive. Please help us to ger her medication. Droplets make the ocean, a penny from you can save my daughter’s life.
I would be grateful for your kindness.