Top
Millennium Post

Patients with rare genetic disease struggle for survival due to exorbitant medical cost

Six-year-old Saif and his  nine-year-old brother Zeeshan are not living a normal childhood. They are suffering from Lysosomal Storage Disorder (LSD), a rare genetic disease. Their visible symptoms include an enlarged forehead, swollen abdomen, short height and low body mass.  

Their father Mohammad, a daily wage labourer who hails from Moradabad in UP, has been making rounds of AIIMS to ensure that his sons get a proper treatment. He says his sons are unable to get timely medicine because of his poor financial condition.

Having lost his one son already to the disease, Mohammad fears for the life of his other two children. 

The disease from which Saif and Zeeshan are suffering will require Mohammad to shell out lakhs or even a crore of rupees annually for their treatment.

A group of 45 rare genetic disorders, LSD is a life-threatening, chronically debilitating, genetic defect, which if not managed can lead to multi-organ dysfunction. It occurs due to the deficiency of specific enzymes in body and can be managed only by infusion of deficient enzymes through Enzyme Replacement Therapies (ERT). 

Currently, ERTs for six LSDs – Gaucher, Fabry's disease, Pompe disease, MPS 1, MPS 2 , MPS 6 – are available. According to an estimate, there are over 5,000 LSD patients in the country and around 150 in the city.   

The infusion of enzymes is determined by a patient's weight. With an increase in body mass, there will be an increase in the dosage.

With only two pharmaceutical companies producing enzymes, the cost of ERT can vary from Rs 40 lakh to Rs 2 crore a year. The lack of such a huge sum for treatment has resulted in the death of many patients. With limited government funding, most patients are dependent on funding from foreign NGOs.

In February 2016, the Delhi government had formed a committee under the chairmanship of Dr DK Tempe, Dean Maulana Azad Medical College (MAMC), to develop a funding policy for LSD patients. There has also been a committee constituted by the Union Health Ministry for developing a policy of providing medicines for treating rare diseases.

Dr AP Dubey, Head of Department, Pediatrics, MAMC, said, "At present, the treatment for LSD is available at AIIMS and Lok Nayak Hospital. Funding for these disorders is a big challenge. It is, however, important that there must be awareness about these diseases."

Advocate Ashok Aggarwal, who had recently filed a petition in the Delhi high court for the Employee’s State Insurance Corporation (ESIC) funding of a 2-year-old Gaucher patient, said, "The rights of children with rare genetic disorders cannot be compromised due to apathy and procedural delays. The government has to take a stand and be accountable for their lives."

Enzyme Deficiency Causes LSD

Lysosomal Storage Disorder (LSD) is a rare genetic disease, whose symptoms are – enlarged forehead, swollen abdomen, short height and low body mass
 
A group of 45 rare genetic disorders, LSD is a life-threatening, chronically debilitating, genetic defect, which if not managed can lead to multi-organ dysfunction

It occurs due to the deficiency of specific enzymes in body and can be managed only by infusion of deficient enzymes through Enzyme Replacement Therapies (ERT)
  
According to an estimate, there are over 5,000 LSD patients in the country and around 150 in the city

At present, ERTs for only six LSDs – Gaucher, Fabry’s disease, Pompe disease, MPS 1, MPS 2 , MPS 6 – are available 

With only two pharmaceutical companies producing enzymes, the cost of ERT can vary from Rs 40 lakh to Rs 2 crore a year

The infusion of enzymes is determined by a patient’s weight. With an increase in body mass, there will be an increase in the dosage
Next Story
Share it