Earl Marshal residents Rafiza and Mohammed Amin have organised a fund raising event to enable new research to take place into the genetic condition which affects their son Saeed.
Spinal muscular atrophy (SMA) is a genetic condition in which some of the cells in the spine fail to provide a link between the brain and the nerve fibres, causing weakness of the muscles. When both parents carry the gene, each child has a one-in-four chance of inheriting the condition.
For Saeed (pictured above right with his brother), it’s not the most severe form but, as he grows older, his activities become more limited. Though he can stand with the aid of leg splints, he can’t walk on his own and has to exercise at home to maintain his muscle strength. His mum Rafiza says their home is “like a gym” and they are running out of space for his hoist, motorised wheelchair etc. The house really needs adaptation but, as it’s on a slope, is not safe for wheelchair access. The family is searching for land close by to erect a purpose-built property so Saeed can still attend school independently. He is very bright and will be going to college and university hopefully.
Currently he is awaiting an operation to correct and support his spine. Hopefully, that will be the last major intervention he will need. However he will still need assistance for almost everything as his muscles weaken.
It’s only about 15 years since the condition was first recognised and there is no cure or treatment yet for SMA. Saeed’s parents had noticed his difficulties with walking from about two years old but he was four when they were given the diagnosis, and by the age of seven he was depending on a wheelchair.
Rafiza told us,
“The doctors didn’t know much about it: they just told us to maintain his health and get on with it. When they say there is nothing they can do, it’s a terrible feeling. I wanted him to have every experience of any other child: like going on bouncy castles and trips.
“Saeed is a very strong individual and that’s where I draw my strength from. When he goes to hospital, he sees other people and says ‘Mum, I’m not the worst. There are people who are suffering more than me.’ He holds himself well!”
Rafiza does voluntary work with the Muslim Women’s Network and, until recently, was a parent governor at school but is always on call if the school needs her to fetch Saeed home.
“I’ve not felt it too much. Some parents lose their children at birth or soon after. The life expectancy for Type III SMA could be 40 – 60 years. No-one knows. I have my children, Saeed, Shoaib and Danyal and I need to stay on top of things for them.
“When you have a special child like Saeed, we are very thankful and we are very close as a family.”
After searching for information the family found Professor Azzouzz researching the condition and gene therapy here in Sheffield. They were put in touch with him and learned about SITRan, part of Sheffield University which studies motor neurone and other similar diseases.
The results in the laboratory are already very promising but a lot of money is needed to get the SMA research through the regulatory bodies.
Saeed’s family decided that, rather than just donating what they could afford, they would arrange a fundraising event.
“It is something we as a community can do. We hope it will lead to a treatment that will become available on the NHS for all SMA sufferers.”
The fundraising event took place on the 22nd May in Rotherham where Professor Azzouzz spoke about his research. Over £3800 were raised at the event.
If you would like to donate, you can go on-line and donate. Donations can be made to: http://www.sifoundation.com. Add a note to say its specifically for SMA research.