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.
Aarnav was born on March 2, 2012, a robust 2.5Kg, baby boy. After several hours, he was diagnosed with Inguinal Hernia, for this he underwent a surgery at the age of just 1 month. He was also diagnosed with Jaundice and was on forced ventilation for several days and in the NICU for a week and was considered totally recovered– a huge blessing.
He continued to grow and laugh, but was always plagued with “minor” things, like many colds and loud breathing, interrupted sleep. After many visits to different hospitals like RML New Delhi, Ganga Ram Hospital New Delhi and AIIMS New Delhi. Aarnav was diagnosed with MPS-VI disease (the scientific name for which is mucopolysaccharidosis Type VI or MPS-VI), which afflicts 1,100 people worldwide.
Symptoms of MPS-VI may not be visible immediately at birth, but start becoming noticeable after the first year of life or even later. In Aarnav’s case, symptoms emerged after he turned 1. What started as a casual checkup for a mild bout of wheezing turned out to be a nightmare for his parents.
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans– long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. Glycosaminoglycans (formerly called mucopolysaccharides) are also found in the fluid that lubricates our joints.
People with a mucopolysaccharidosis disease either do not produce enough of one of the 11 enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these glycosaminoglycans collect in the cells, blood and connective tissues.The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development.
Children with MPS VI, Maroteaux-Lamy syndrome, usually have normal intellectual development but share many of the physical symptoms found in Hunter syndrome. Caused by the deficient enzyme N-acetylgalactosamine 4-sulfatase, Maroteaux-Lamy syndrome has a variable spectrum of severe symptoms. Neurological complications include clouded corneas, deafness, thickening of the dura (the membrane that surrounds and protects the brain and spinal cord), and pain caused by compressed or traumatized nerves and nerve roots.
Growth is normal at first but stops suddenly around age 8. By age 10 children have developed a shortened trunk, crouched stance, and restricted joint movement. In more severe cases, children also develop a protruding abdomen and forward-curving spine. Skeletal changes (particularly in the pelvic region) are progressive and limit movement. Many children also have umbilical or inguinal hernias. Nearly all children have some form of heart disease, usually involving valve dysfunction.
An enzyme replacement therapy was tested on patients with MPS VI and was successful in that it improved growth and joint movement. An experiment was then carried out to see whether an injection of the missing enzyme into the hips would help the range of motion and pain.
Is there no treatment for him?
There is, but the drug (Naglazyme) that can prove highly beneficial for MPS-VI patients it costs tremendously high and not available in India. It has in fact been called as one of the most expensive medicines ever created. This medicine is the only hope for Aarnav now. This drug is not yet available in India however with prior permission from Drug Controller General of India it can be imported as it is a life-saving drug. The cost of the drug is the only factor that has not yet made this possible because a weekly dose of this drug will cost around 2 lakhs and has to be given life long. Considering that the drug is to be administered on a regular basis and for a long-term, the cost is estimated to run into several lakhs, probably even running into a crore.
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.