Case Study of Madhina, 2 years Old Suffering from Pompe- Bijapur Karnataka
A child is the most beautiful asset for parents. I and my Wife were blessed with a beautiful baby girl named Madiha on March 13, 2011. I cannot explain how happy I was at that time only to realize that this happiness was for short span. Madiha was 3-4 months old when it came to my attention that she was having difficulty in sitting and was not gaining any weight as required by a normal child of her age. A series of consultation with doctors and various tests revealed liver dysfunction for which Madiha was on a couple of medications prescribed by doctors for few months. Madiha was around 1 year 3 months old when on July 9, 2012 she got aspirated by syrup due to which she faced difficulty in breathing. Madiha was taken to a local physician who removed the aspirated syrup from lungs and followed by a hospitalization at Solapur for further treatment. She was on ventilator support for a week at hospital. Doctors initially diagnosed her with pneumonia and cardiomapathy. The treatment at hospital went on for two months and Madiha was continued on oxygen support as she was unable to breathe. Finally Madiha was diagnosed with a disease called Pompe (Glycogen storage disease type II) i.e. deficiency of enzymes, Madiha had turned 1 year 5 months old by then. Doctors at Solapur Hospital suggested there is no treatment for this disease in India and leaving me devastated.
However for parents their child is the world and for me Madiha is my world so I just did not wanted to quit. I consulted one of my family friend doctor Called Dr. Waseem Karjagi, who in turn introduced me to Dr. Nazeer Ahmed Jeergal, Assistant Professor at BLDE, Bijapur. Dr. Nazeer Ahmed explained me the details of the disease and why it occurs and what is the available remedy for it. It was during this I heard about the only medicine for this particular disease called Myozyme. I did my research on net over this disease and the only medicine Myozyme which revealed quite interesting facts and also the safety and efficacy of this medicine. In the year 2006 the US Food and Drug Administration approved this Myozyme treatment which was developed by a team of Duke University researchers. However given the cost of this treatment (an average of $300,000 a year) Canadian Common Drug Review called for a public funding for Myozyme therapy by way of providing a very small subset of Pompe patients. Genzyme Corporation an Orphan drug pharmaceutical company is the manufactures and markets the Myozyme. Under the public funding Genzyme Corporation marketed the Myozyme drug free of cost to provide Myozyme therapy to small subset of Pompe patients. My child Madiha is fortunate to be part of this funding and I am really thankful to the Genzyme Corporation for extending their help in this regard and providing Myozyme treatment free of cost.
Madiha underwent Myozyme treatment at one of the India’s largest multi-specialty hospital called Narayana Hrudayla located at Bangalore under the care of Dr. S.J. Patil who guided me well through the Myozyme treatment. His valuable suggestion on usage of this drug helped in the improvement of the health of Madiha. Ever since Madiha has been started on this drug I have seen her health improving. Today I think of the day when my daughter being just 5 months old was suffering through breathing problem and compare the same with present situation I feel so relieved. Madiha is more than 2 years old now and is all smiling and looking healthy as before.
I strongly feel that Karnataka / Indian Government must take some initiative in providing a treatment to Pompe Patients and education initiatives to create awareness in people and most importantly in medical institutions and hospitals so that the next time a doctor diagnosis the Pompe disease he must be capable of suggesting the available treatment as well i.e. Myozyme. I do not want to see any other parents undergoing the same fate as of mine.
I would like to extend my thanks to Almighty God for sailing me through this rough patch, my wife, and my parents for standing with me in this regard. Most importantly I would like to extend thanks to Genzyme Corporation for providing Myozyme treatment free of cost. Lastly I would like to extend my thanks to Dr Waseem Karajgi and Dr. Nazeer Ahmed Jeergal for providing with their valuable guidance and support in his regard and a special thanks to Dr. S.J. Patil for his guidance and suggestions in this regard. Also I thank all people who helped us directly or indirectly in this regard.