The disease which I want to talk about is MPS (mucopolysaccridosis)- it is a Lysosomal storage disease, commonly called “Sanfilippo syndrome.” My brother is suffering from it. Basically it is a
co-genital disease and the worst thing about it is that up until 4 to 5 years of life its symptoms don’t show. This syndrome is related to genetics as the mother & father both must carry the carrier gene. As for my brother, he was already a pre-mature baby. He was in the incubator for 21 days but by the grace of Allah he soon recovered. He was a sharp baby, fast learner. When he was 8 months old he started to wake up during nights and was always frightened, but unfortunately we didn’t pay much attention towards it. Not too soon, he became aggressive, he used to bite and hit people, and of course he himself wasn’t an exception and he used to bite himself too. When he was nearly 2 years old, he got his first fits and soon after doctors diagnosed him with ASD (autism spectrum disorder).
We started his therapies and did all sort of stuffs. I forgot to mention he wasn’t able to talk but he was not like this since birth. He knew how to talk, but after 2 or 3 years of his life he forgot how to talk. He was diagnosed with autism but then his hyperactivity started to increase, and the doctors told us that he also has ADHD. Now he was diagnosed with two neurological disorders- autism & ADHD.
Then I remember we were introduced to a neurologist, & we changed several of them, out of which one neurologist thought that he has MPS. My brother was diagnosed correctly when he was 6 years old. It was diagnosed late but as its a degenerative neurological disorder it takes time. The doctors diagnosed it after they saw the changes in his facial features, and too many hairs on his face and the entire body, and similar behaviour as a person suffering from Autism & ADHD such as toe walking, loss of speech etc. The signs and symptoms of MPS include developmental and speech delays, aggressions, hyperactivity, and behavioral issues that may seem like caused by Autism but are part of the Sanfilippo syndrome.
Now we have been known about this disease since a year; he is 7 years old now. He doesn’t know anything about the world, he is not even able to go to the washroom by himself, he will be paralyzed and this disease is not curable and it is degenerative which means he will lose all his skills eventually. He wouldn’t know how to even swallow his food or drink water.
The thing that I want to do here is to raise awareness which we do not have especially in Pakistan. My brother will survive till his late teens probably because that’s the life span of a person with Sanfilippo syndrome, and I want people to know about it. I want them to take some possible steps towards the treatment of this disorder. There are some disorders that are incurable, and you have to suffer through your lifetime like autism but we can at least make it a little easier for the patients suffering from these types of diseases, and for that we just need to “Raise Awarness About It!!” and then everything will be done by itself.