Hearing the news that your child has a rare disease is life shattering. 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 looking for an answer. He was always plagued with t
hings, like many colds and loud breathing, interrupted sleep. After numerous visits to different hospitals like RML, Ganga Ram Hospital, finally Aarnav was diagnosed with MPS-VI at AIIMS New Delhi. MPS VI patients are missing an enzyme essential to breaking down the mucopolysaccharide dermatan sulfate. In MPS VI patients the body constantly replaces used materials and breaks them down for disposal. These materials remain stored in the body’s cells, causing progressive damage almost on all the organs. Babies may show little sign of the disease, but as cells sustain damage, symptoms start to appear. In January 2016 Aarnav was given Chemotherapy before receiving Bone Marrow transplant. He showed some positive signs after transplant but after 6 months it got failed. We were told by Doctors at AIIMS about Enzyme Replacement Therapy (ERT) which was not available in India. Till May 2018 symptoms kept growing in result Aarnav started having difficulty in breathing and physical development almost stopped. He also developed Umbilical Hernia for that he underwent another surgeries at Safdarjung Hospital, Delhi. Due to breathing issues Doctors had to put Tracheotomy to operate on him but were not able to remove it post-surgery. Since then he is living with it and made his life more difficult and socially isolated. In May 2019 Aarnav temporarily moved to UK with parents and after 7 months of struggle he finally receive ERT in January 2020 at Great Ormond Street Hospital, London. After months on ERT he has started showing some improvements. ERT is a 6 to 7 Hours of infusion process and has to be given every week for whole life. At GOSH he is now being seen by ENT, Metabolic, Spinal Surgery, Orthopaedics and Ophthalmology departments for the deformities he has already developed in his different body parts and if required needs surgery time to time. ERT is the only hope for Aarnav now. Giving this drug cannot guarantee that he will live happily ever after but it does increase his chances of survival and for the moment that’s all his parents want. For him to survive, to live.
