After being married for eight years, my wife and I got the wonderful news that we’re expecting our first child. When our son was born in October 2015, we were over the moon and made plans of being the best parents a child can ever have (as do all parents wish). From birth till 5-6 months old, Vivaan was hitting all his milestones perfectly. However, in the upcoming months, he started missing his milestones and that got us worried. He has always been a friendly child who loved being around people and his curiosity knew no bounds.
At around the age of 2, we noticed him rolling his eyes into his head. Vivaan’s pediatrician suggested a series of tests, one of which was a genetic test, to figure out what was causing the delays. The genetic test came back positive for SynGap1 mutation and it confirmed that the rolling of his eyes was not behavioral, but a result of absence seizures. Vivaan, who’s always been curious and excited about his surroundings and people, was not progressing as other kids; and that broke our hearts into million little pieces.
By the time we realized he was having a seizure every 5 to 10 minutes, he had become very weak. The neurologist we consulted in our hometown, Pune, Dr. Abhijeet Botre, put him on the necessary medication in order to control his absence seizures. Not having a cure for SynGap1 and being the first identified case in India, we found ourselves alone and facing a dead-end. Our only source of information, that too limited in absence of support groups in India, was from Vivaan’s doctor. I researched on this topic extensively and was determined to do anything and everything possible to fight for our son and against his condition. Upon my research I found an organization in the US that is working on finding a cure for SynGap1, and works as a support group as well.
Today, Vivaan is 3.8 years old and goes for speech and occupational therapies, in addition to going to preschool. He is an obedient child (most of the times), who loves his family and friends, but also suffers from behavioral issues from time to time. Vivaan has been through a lot in his short time, but we will not stop fighting for our son and raising awareness in India and anywhere else in the world. We have tied up with a researcher named James Clement in Bangalore; he and his team are currently working on this mutation. James was also working on getting grants for his research, but since he did not know any patient to study or work with in India, he couldn’t before. However, now that we got in touch with him about Vivaan’s condition, we all feel that it can be a turning point for all of us.
India has a huge population and we wish to reach as many patients who have this mutation, and offer support to their families. If we all can work together, we can help each other out with research and perhaps, clinical trials so that we can get that much closer to finding a cure. I have started a group on social media called SynGap1 India, and am currently in the process of building a website as well. This will help me reach out to as many people as possible in India and across the globe. It may be a small initiative on my part, but it will be able to extend and get help; for our children, for their futures.