Indian Family Hopes for a Cure for Son with Enzyme Assay for MPS
July 11, 2014
Aarnav was born March 2nd, 2012, as a healthy 2.5 kg baby boy.
Chhatrapal and Rajani Sharma, Aarnav’s parents, were thrilled about this new life and their dreams of having a family were finally beginning with the birth of their first child! Several hours after birth, Aarnav was diagnosed with an Umbilical Hernia and underwent a surgery at the age of just one month. He was also diagnosed with jaundice within the first week after his birth and was on forced ventilation for several days and in the NICU for a week. After all this, he was considered fully recovered.
He continued to grow and laugh, but was always plagued with “minor” things– like mild bouts of wheezing, many colds and loud breathing, interrupted his sleep. Chhatrapal remembers that at the time, he was not worried. Aarnav seemed to be developing perfectly and athletically, and he was ahead of most kids his age. When Aarnav started to sit on his own at the age of 7-8 months his parents noticed his head was larger than normal and he had, what seemed like, a curvy spinal cord.
After many visits to doctors in RML Hospital Delhi, Aarnav was referred to the genetics department of Sir Gangaram Hospital in New Delhi for Enzyme Assay for MPS (Mucopolysaccharidosis) where he was diagnosed with MPS 6 on 10/01/2014. Tears began pouring down Rajani’s face as they heard the diagnosis that Aarnav had MPS VI, a rare, fatal genetic disease.
For the next few days, weeks, then months, Chhatrapal remembers, Rajani would cry every day about Aarnav. They had a little boy who didn’t know he was sick, and had no idea what pain his future would bring him. In Aarnav’s case, symptoms emerged after he was around 7-8 months old. What started as a casual check-up for a mild bout of wheezing turned out to be a nightmare for his parents.
Hearing the news that your child has a rare disease is life changing. It takes time to absorb the words you just heard, process the information and then try to understand what life will look like going forward. For some, the road to diagnosis is not a clear path but an odyssey where families take their sick child from doctor to doctor for years, sometimes over a decade, looking for an answer.
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