Gemma Thompson would love nothing more than to hear her seven year old son Tommy say “mummy” again.
The seven-year-old also used to be able to say the names of his brothers along with daddy and many other words.
But in the last year, Tommy has lost his ability to talk because of an exceptionally rare degenerative condition for which there is currently no cure or treatment.
Tommy is one of fewer than 150 children in the UK living with Sanfilippo syndrome (also known as MPS III).
It is an inherited disease caused by the lack of an enzyme that breaks down complex sugars and leads to them building up in the brain and other parts of the body instead.
Tommy's condition will gradually worsen as he gets older, and he is likely to suffer mental decline and develop behavioural difficulties.
His life expectancy is 12 to 15 years.
At the moment he is a happy and cheerful little boy who enjoys running around the garden and playing with younger brothers Oliver five, and Ashley, three.
He is deaf, has a heart condition and has problems with a hip joint that are all associated with his condition. But he laughs, can make sounds and responds to his family and friends.
Tommy also loves nothing more than to run free along the beach, throw stones in the sea, ride his trike, and jump around on his trampoline like any other little boy.
Family heartbreak
However his mum and dad Kevin, 32, are facing the heartbreaking knowledge that their son will gradually lose his ability to walk, is likely to end up in a wheelchair and will no longer respond to them.
Mrs Thompson, 27, from Hove, said: “We realised there was a problem when, as a baby, he wasn't reaching any of his milestones.
“By the age of one he couldn't sit up on his own and needed to be propped up with pillows. He was having problems with crawling and walking as well.
“He was diagnosed at 17 months and it was a shock when we were told there was no treatment and no cure, and that there was nothing that could be done for him.
“After we came to terms with that, we were determined to help him as much as possible.
“By three years old, he had a vocabulary of 350 words and we were teaching him to sign.
“His development was delayed so he was more like a two year old. Things were okay but he was just a little bit behind everyone else.”
However, as Tommy got older, more enzymes began to build up in his brain and his condition started to gradually worsen.
Mrs Thompson, who is a full time carer for Tommy, said: “It was really hard in the last year when he stopped talking.
“Our greatest fear is having to watch the Tommy we know and love gradually disappearing from us.”
Drug trial
The family cope day to day with Tommy's condition, but because it is so rare, they often find themselves having to explain it to medics whenever he goes into hospital.
The best hope for Tommy is a new drug called Genistein aglycone being tested at the University of Manchester.
It is found in soy foods, is non-toxic, can be taken orally and is relatively cheap.
It is believed it may be able to delay the progression of the disease and even improve some of its symptoms.
However there is still a way to go before it can be given to children in its purest form and further tests and trials are needed.
Mrs Thompson said: “It is the first glimmer of hope that we and other families in the UK have had and it is a big step.
“If there is anything out there that can help us keep Tommy as he is now for as long as possible, then obviously we are going to do everything we can to support that.
“At the moment we can still see the lively, cheeky Tommy, and we want to be able to hold on to that.
“I would just love to be able to listen to him say mummy and daddy again. It is not the be all and end all, but it would just be wonderful.
“Being able to communicate would be so good for him as well and I'd love that for his sake.”
The family has joined forces with the national charity the MPS Society to back a campaign to raise £600,000 so the next stage of the drug trial is able to go ahead at Manchester Children's Hospital.
Brian Bigger, a senior research fellow at the University of Manchester, said: “This is a devastating disease with a terrible cost to affected children and their families. “There are no current treatments.
“If proven to work in children with Sanfilippo, the drug could have future application in other childhood and possibly also adult dementias.
“This is why we need to run a clinical trial in kids with Sanfilippo as soon as possible.
“There are over 130 children currently in the UK with Sanfilippo who will die without a treatment.”
Fundraising drive
Mrs Thompson said: “Tommy loves going to his special school and utterly dotes on his little brothers. They in turn love to mess around and make him laugh.
“He also loves kicking a football about.
“Losing his speech was a big, big thing but it will be very difficult to see when he starts to have problems with getting around.
“We really hope the funding for the trial can be found so he is able to stay as mobile as he can and be himself for as long as possible.
“We want him to have a great quality of life – he is so important to all of us.”
To support the family in their fundraising drive, visit www.shareagift.com/giftpagefortommy
The Society for Mucopolysaccharide Diseases (the MPS Society) is a voluntary support group founded in 1982, which represents from throughout the UK over 1200 children and adults suffering from Mucopolysaccharide and Related Lysosomal Diseases including Sanfilippo.
For more details anout its work, visit www.mpssociety.co.uk or call 0845 389 9901.
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