An Incredibly Brave Young Man Living with Duchene Muscular Dystrophy
By Veera Mahajan
Duchene is a rare kind of Muscular Dystrophy which only attacks boys. It is passed from the mother to the son. Mother is a carrier but it does not affect mother’s health so most of the time women don’t even know they are carriers of such a debilitating disease and unknowingly pass it on to their sons. If a woman knew that she is a carrier, she could choose not to have sons and the daughters could be tested before child bearing age to be sure if they are carriers of Duchene.
That is what happened with Savant. His mother didn’t know but she was a carrier of Duchene. He lived in India with his parents and his younger sister Nargis. He was always a very intelligent, polite and happy young boy. He was a little slow but no one paid much attention. Everyone thought he might be slow and quiet by choice. Till one day, when the family visited Australia and had a physical there. During the physical, the doctor noticed that Savant did not get up quickly from the examination table, and that he used his hands to support himself as he got off the table, which is not normal for a healthy young boy. The doctor got suspicious and tried a few other activities and noticed the same extra effort that Savant needed to move around. It was not very noticeable to a lay person unless you knew what you were looking for. All his family and family doctors had ignored that, and just assumed him to just being slow or lazy. But this doctor pointed it out and insisted on having more tests done. To everyone’s surprise and dismay, he confirmed that Savant in fact had Duchene Muscular Dystrophy. He was 4 years old then.
He was too young to know what that meant. He didn’t know what a struggle; life would be from then on. His parents were understandably distraught. There was no family history of any Muscular Dystrophy let alone Duchene. There was no way for mom to know she was a carrier. She got tested and sure enough she was. Don’t know where the mutation happened but Savant has to live with the fact and the brunt of the disease.
They tried everything in India and in U. S. A. No new treatment was available.
They tried all kind of diets and exercises. They tried to follow any suggestions from anyone. His parents were willing to do anything to help their son. When he was about 11 he was in US and there was first human trial of some medicine that was supposed to stop further progress of the disease. That trial went wrong, killing the child the medicine was tried on. Now all new human trials were to be pushed back for long, long time. So, they moved to Australia. Life has been a little easier for him there. The society is very courteous and sympathetic to him. He has a lot of facilities. He is able to do a lot on his own, even though he is in a wheel chair and can’t do a lot with his own hands. He has had many surgeries, including surgeries to put steel rods in his back to keep it straight. His arm muscles are too weak for him to even be able to feed himself, so he has to use a lot of machines to assist in eating, moving to bed or assistance in the bathroom.
In spite of all his physical challenges and all the medical treatments he goes through on regular basis, he is a straight A student. He is very intelligent. Because he is such a good student he has 100% scholarship for college. He has special assistant to do the writing for him because he can’t write in class. He is allowed to take oral examinations along with the assistant who writes for him and helps him with other things that he needs help with while in school.
He is 20 now and in his 1st year of college. He wants to study genetics and to find a cure for Duchene himself. Last couple of months were extremely difficult for him and his family. He fell sick with pneumonia. His lungs were very week and he was on breathing support. He was so sick that doctors were skeptical if he will make it. Since he could not breathe on his own and was on all kinds of machines, he could not eat so he had feeding tubes, at one point the doctors asked his mom if she wanted to consider letting him go and disconnect his breathing support. Mom’s love, support and faith prevailed and he started getting better. The pneumonia was gone. But, the lungs were still too weak for him to breathe independently. They could not afford to let him get sick again. So, the doctors told him that they will have to make a small incision in his trachea for breathing and feeding. He was told that this would be his permanent condition and he would never be able to eat on his own and also he would not be able to speak. He would need a machine for talking. He asked the doctors. “Will I be able to go to college?” He didn’t want to live if he could not go to college. They said yes, and he happily agreed to the procedure.
The procedure was successful and he was breathing, and eating through tubes. He was talking trough a machine too. But, miraculously he started feeling better. His lungs were not so week. So they started weaning him off the breathing tubes. Within weeks, the tubes were removed. As soon as the breathing tubes came off, he could eat and talk too. He is back to his normal.
We are so thankful for his wonder recovery. We are so thankful for his mother’s strength and tenacity. We are so thankful that we have our dear Savant back. He is my nephew. We are so proud of him and wish him well. He may one day find a cure for himself and other children suffering with Duchene Muscular Dystrophy.