Story of Eshan- Who became close to GOD than parents
We were blessed with this cute little boy we named Dvishan (nick name Eshan) on September 18th 2009. Though he had to go through some trouble due to fetal distress during labor, none of us were even remotely aware of what his future would look like. When Eshan was close to two months old, he had a persistent cough and cold, which even antibiotics could not help much. We consulted an expert Neonatologist in Trivandrum and during a routine chest x-ray check up Doctor found that his heart is much bigger in size. He was declared to have cardiomyopathy and was advised to take him to Pediatric cardiology department of Amrita Institute of Medical Sciences (AIMS) in Kochi, which is one of the top Pediatric Cardiology care hospitals in the country. At AIMS, Eshan went through an echo test and the expert doctor immediately pointed out that the problem Eshan has is a very rare genetic disorder called Pompe and prognosis of this disease, unfortunately is not promising. We were advised to get in touch with the Pediatric Genetics department to confirm this and take his case further. We were under huge shock to hear all these and understandably I and my wife were very emotional.
We consulted the genetic department and within couple of weeks got confirmed that Eshan indeed has this rare genetic disorder called Pompe caused by the absence of a critical enzyme in his body needed to break down sugar in his cells. Outcome of this problem is weak skeletal, cardiac and respiratory muscles which would get even weaker with time. Doctors told us that typically kids with this problem won’t be alive to see their first birthday! We could not digest that fact, Eshan being our first and only child, it was horrifying to hear that. Doctors also mentioned that there is some hope left as a biotech pharma giant (read Genzyme) has come up with the treatment for this problem Enzyme Replacement Therapy (ERT). But couple more things that came in as a shock. This medicine needs to be given once in two weeks for life time and cost of the medicine is extremely expensive. We would need to spend Rs 3.2 lakhs ($7000) per month for this treatment. This is extremely unaffordable and no amount of insurance can cover this in India. Doctors again gave us some hope that we might be able to approach Genzyme and request them to provide the medicine free of cost through a charitable access program. With the help from expert Doctors in Genetics and Pediatric Cardiology department, we approached Genzyme and the company was kind enough to award the free access! So the long journey to deal with this dreadful genetic disorder started â€“ yes the treatment started on Dec 12th 2009, one of the happiest days in our life. Thanks to the expert Doctors at Amrita, Duke Medical Center, Genzyme officials and parent community friends.
This new treatment along with ERT continued for six more months and found that Eshan did not show the progress expected unfortunately. Further testing his blood at Duke, we came to aware that his own immune system is rejecting the externally provided enzyme by creating antibodies. So we were advised to start on a clinical protocol to suppress his immunity so that his body will accept the enzyme. This treatment involves lot more rigor and similar to immune modulation treatment offered to organ transplant patients. So we had to visit hospital every week to get both immune modulation treatment and ERT. Immune modulation is also an expensive treatment, fortunately I got some support from my company and Doctors also tried their best to help us out. Understandably the kid went through lot of trouble with frequent hospital visits, but we hoped that things would improve with time. There is a critical issue with the immune modulation, since it reduces the natural immunity, child is prone to infections and any small infection can become really dangerous. Eshan showed improvement and his antibody titer levels in his body started coming down. As we were hoping that things would improve soon and the trouble we took would fetch us the expected result, almighty had other plans for Eshan. When he was one month way from his second birthday, he got a respiratory infection which turned out to be Pneumonia. After close of three weeks of stay at the intensive care unit at Amrita, in spite of best efforts from Doctors at Amrita and support from Duke, Eshan succumbed to respiratory failure and cardiac arrest on July 29th 2011! Yes Eshan is no more and we are living with his memories only.
Close to two years of our life with Eshan and children like him has been a life changing experience for us. Hope and wish that with further development in the medical and biotech world, there won’t be any parents or kids who would have to go through what Eshan and we went through in the past two years. We are very grateful to Doctors at Genetics and Pediatric Cardiology Department at Amrita, Pompe experts at Duke University Medical Center, Genzyme officials and our friends at the parent’s community (LSDSS.org) for helping us with our entire journey dealing with Pompe.