Entering the COERD Centre of ORDI at IGICH, I was welcomed by the young chirpy voices of Ritika and Jhanvi (name changed for patient privacy reasons). Listening to their conversation they did not seem to be too happy about missing the Children’s Day celebrations at school as they had to come for the enzymes infusion that day. Ritika and Jhanvi, studying in class third and fourth respectively were diagnosed with a rare disease called MPS IV (mucopolysaccharidosis) for about two years ago.
According to their mother, Ritika seemed like a perfectly normal baby at birth. She showed some physical features that even doctors believed to have been inherited from her grandparents and hence thought would be rectified as she grew up. It wasn’t until she has caught a fewer when she was two years old that the seriousness of her situation was diagnosed or rather doubted. The doctor seemed to be more bothered about her physical appearance and the suspected defects that came along with it, than the fever. He immediately referred to a genetic test which came positive with Type IV MPS. Ritika’s sibling, who was one at the time, was declared to be a normal child then.
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome condition in which the body is unable to break down long chains of sugar molecules called glycosaminoglycans. As a result, toxic levels of these sugars accumulate in cell structures called lysosomes, leading to the various signs and symptoms associated with the condition. Those affected develop features of MPS IV between the ages of one and three. These signs and symptoms may include abnormalities of the skeleton, eyes, heart and respiratory system. (Genetic and Rare Disease Information Centre)
The siblings’ parents were devastated. They felt helpless at the time due to the lack of licensed medicines in India. It was when Jhanvi was 5 years old that she was found with some issues related to her strength. She seemed to be unable to hold slightly heavy objects, like a glass of milk, without breaking it. This was when she had gone through a genetic test which came positive with MPS type IV.
Lack of medicines and awareness even among doctors forced them to take Dr. Meenakshi Bhat’s advice to migrate to the US where there are good treatment and available medicines. This decision was very