On International Pompe Day, NewsX in partnership with Pompe Foundation held an enthralling session on ‘Pompe: A rare disease’. NewsX was joined by an expert panel which included Dr Sheela Nampoothiri, clinical professor and the head of the department of pediatric genetics at the Amrita Institute of Medical Sciences and Research Centre, Cochin, Mr Prasanna Shirol, Co-founder and executive director, Organisation for Rare Disease India, Dr Ratna Dua Puri, a professor and chairperson at the Institute of medical genetics and genomics at Sir Ganga Ram Hospital, New Delhi, Dr Monjori Mitra, Professor at Institute of Child Health, Kolkata, Mr Anil Raina General Manager at Sanofi Genzyme, Mr Sudarshan Kestur, Advocate Meryl Sarah Mammen (Pompe warrior) and Arif (father of a child with Pompe disease).
Mr Prasanna Shirol kickstarted the conversation, he said, “Awareness is very important, especially when it comes to rare and genetic disorders, especially in a country like India, where we have our diverse population of education background and things. Awareness not only for the general public but also for the medical fraternity is very important when it comes to rare diseases. This time is very important because this day happens to be world Pompe day and also, the only treatment for Pompe, which is Myozyme is 15 years, where we are celebrating the 15 years of care and treatment for a deadly chronic disease condition called pumping. ”
As there is not much clarity about the Pompe disease among the common public. Dr Sheela Nampoothiri wonderfully explained the three variety by stating, “Pompe disease is an extremely rare lysosomal storage disorder where there is an accumulation of the glycogen happening in the various parts of the body mainly gets accumulated in the cardiac muscle and also in the skeletal muscle and the patients will probably be presented with, either with hypertrophic cardiomyopathy that means the walls of the heart will be very much thickened. There are mainly three varieties of Pompe’s disease, the one which is manifesting in the first year of life, is called infantile Pompe disease. And these babies die by somewhere around nine months to one year if they are not getting the correct treatment at that point of time. They should be started on treatment as early as possible, because if the irreversible damage has already happened, then there is no point in giving treatment, the patients won’t be doing that well. The second variety is called juvenile Pompe disease, where they do not have cardiac involvement, but they have mainly muscle involvement, they will be having difficulty getting there from the floor, they will be having difficulty in climbing stairs. The third variety is a late-onset Pompe disease or an adult form of Pompe disease, where the patients will be somewhere very normal till around 16-17 years and they will be having difficulty climbing stairs and difficulty to get up from the floor and they will also be having lung involvement.”
Citing the problem of how to teach the parents about the rare diseases. Dr Monjori Mitra said, “It’s very difficult to transmit to the parents the telltale signs, the doctor also needs to know. Today, we do find that the awareness of the symptoms amongst the general paediatrician will also low. The parent might come and simply complain that my child is choking is having little physical difficulty in feeding, where the child is otherwise quite healthy, but if a doctor has an awareness that there can be a possibility of competencies, then the first diagnosis goes there and the early pickup.”
Meryl Sarah Mammen spoke about her own personal struggles with diseases and described, “my journey of Bombay has been a series of misdiagnosis. And my first symptoms were noted when I was in seventh grade when my dance teacher complained about me getting out with the difficulty compared to other children. At first, we didn’t know anything about this and then my parents heard that I was having difficulty climbing stairs. As years passed on, I completely lost most of my moments like climbing stairs, getting up from the ground. Eventually, by the age of 21, I couldn’t even walk, it was really difficult to walk without any kind of support. It was then under Dr Verma, we came to know about Pompe. Before that doctors diagnosed it as muscular dystrophy because it’s more and more common.”
Arif shared the Journey of his daughter and said, “under the supervision of Dr Ajay Patil, who has expertise in genetics who guided me well through the Biogen treatment. His valuable suggestions on the usage of the drug helped me improve the health of the Madiha. Ever since Madiha has been started the drug and has seen her heart improving. Just a timeline I want to share at 1 year 3 months, she was on ventilator support for almost a week and was diagnosed with heart and mind. 1 year and four months he was on oxygen support for a month and diagnosed with Pompe disease. One year, five months, she received her first enzyme that is on 3rd August 2012. One and a half years she was oxygen-independent. At two years she started sitting and one year, six months to two years, four months she was on a liquid diet. So around 2 years 5months, she started eating solid food. Three years she started speaking and going to school ”
Dr Ratna Dua Puri highlighted the importance of early treatment and explained, “the basic physiology of the disease remains the same. It presents very early, more the first year of life, there’s a lot of cardiac involvement, we don’t find that in patients of later onset of a disease. It’s very slowly progressing but essentially, the concept of supportive care and definitive care remains the same. And I think what is really important for both infantile and late-onset Pompe, is to diagnose the patients early.”
Mr Anil Raina emphasised the company’s sense of duty and humanitarian efforts during the conversation. He said, “ There are countries that offer treatment support to patients with such debilitating disorders. But there are others where the system is still evolving and just because the system is in a state of evolution, one cannot deny a person the right to treatment. A patient is a patient, irrespective of the geography of that patient. For example, when we started our humanitarian program, which was way back in 1991, this is actually, we are commemorating the 30 years of our humanitarian program. ”
Mr Sudarshan Kestur talked about the legal aspects and said, “Our framers of the Constitution have given us some really wonderful provisions. Most importantly, the High Court and the Supreme Court have very clearly held that the judgments in various stages of clearly held right to life are a part of the liberty that we have under Article 21. Now, having said that, the same principles have been consistently followed by our Karnataka High Court, because of consistent and persuasive orders passed by them, nearly about 45 to 46 children are being supported. So this is one of the actions, where the persistence and the consistent effort of the judiciary have to be now placed on record”.