On 15th of April every year, the global Pompe community observes International Pompe Day, to raise awareness on the burden of Pompe disease across countries and to educate families on how they can detect such birth defects. This fatal disease is estimated to occur in 1 person born for every 40,000 live births, however till date, knowledge about this disease and its treatment in the public domain and amongst doctors is very limited. Dr Ratna Puri, Genetics Specialist, Sir Ganga Ram Hospital said, “It is very important to have a high index of suspicion to diagnose the patient, this suspicion however is lacking in our medical community.”
According to Dr Puri, “Pompe is a treatable disorder and early diagnosis is very important for the therapy to work well. However, without treatment, patients can die because of cardiac failure and respiratory failure whereas, with treatment, there is improvement in the function of the heart and the skeletal muscle”. She further added that with timely treatment, the respiratory function stabilises.
She has been treating many such cases in Delhi amongst whom Meryl Sarah Mamen is one of the oldest patients getting treatment for Pompe. Meryl, 27, was first diagnosed with the disease in 2005 and since then has been under care of Dr Puri. Meryl’s condition since her treatment has improved and has successfully completed her education.
Meryl said, “For someone who has suffered the disease for years, I know the importance of spreading the right information amongst public as well as Doctors. Due to lack of proper information, I was misdiagnosed with a dysfunction of muscles called limb-girdle muscular dystrophy (LGMD) many years ago and therefore have suffered the effects of wrong treatment. Understanding the symptom and seeking immediate help is pivotal in case of Pompe disease.”
There are, however, many cases like hers in the country, where, due to a lack of awareness even among doctors, the cases are not detected. This lead to either a misdiagnosis or delay in the diagnosis as well as treatment of the patient and makes their situation worse as time goes by. That’s why the International Pompe Day is dedicated for Pompe community to bring awareness on Pompe Disease.
Pompe disease belongs to a family of 40 odd disorders known as Lysosomal Storage Disorders (LSDs). Only 7 of these disorders currently have treatment options and India currently has about 300 patients who have been diagnosed with treatable LSDs. Due to the high cost of therapy for LSDs, such patients are denied their right to lead a normal, healthy and productive life.
The Patient society, LSDSS (Lysosomal Storage Disorders Support Society) has been working in the country to raise awareness about LSDs.
Manjit Singh, the father of a child afflicted with an LSD and President of LSDSS said, “We raise our voice and appeal to all parents, care givers, students at educational institutions, primary health care centres, hospitals to be more aware of Pompe & other rare disorders. We advise all parents to get Gene Mutation Test done during pregnancy to avoid such birth defects. This is important as in the case of Pompe as the child either dies within 15 Days to a year or lives very painful life if not treated on time.”