Correct diagnosis made the difference (From Croydon Guardian)

Correct diagnosis made the difference

8:19am Thursday 13th July 2006 in

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The parents of an eight year old Croydon boy who is the only British person to have been diagnosed with a rare disease have set up an international charity to raise awareness of the illness.

Jake Flint has aromatic amino-acid decarboxylase (AADC) a genetically inherited disorder affecting the brain's ability to produce two of the most essential neurotransmitters needed for everyday living.

When Jake was born Tony and Lisa Flint were told their baby son had cerebral palsy and would spend his life in a wheelchair.

Refusing to believe the diagnosis Lisa and her husband, from Ridgemount Avenue in Shirley, fought the experts.

“If Jake had not been diagnosed when he was and had not received the correct medication he would still be in a wheelchair now and he would still have been suffering with disabilities."

Lisa Flint

Finally after their own extensive research Jake was diagnosed as the first British person to suffer from the illness.

Now the couple are hoping to help children and their families all over the world who have been diagnosed and also to fund a research project so that more people can receive the help they need.

Lisa said: "We thought that he had cerebral palsy for about three-and-a-half years but we never really believed the diagnosis because the research for that just did not fit the bill with Jake.

"When we found out he had AADC there was only 17 people in the whole world at that time who had the disease and Jake was the only British one who had been diagnosed."

There are now 30 people in the UK who have been diagnosed but Lisa believes that a lack of knowledge and research could mean many more people have been misdiagnosed, just as Jake was.

"If Jake had not been diagnosed when he was and had not received the correct medication he would still be in a wheelchair now and he would still have been suffering with disabilities.

"His diagnosis has been a life-saver and a life changing experience for all of us."

Now Lisa and Tony, who have two other sons, are trying to raise £80,000 to fund a three-year PhD course to research the causes, effects and treatments for AADC.

Lisa, 39, explained: "We need to raise at least £56,000 so that it can get underway. Any research will potentially benefit people with Alzheimer's and Parkinson's because the three diseases are very closely linked."

Jake now has autism and still suffers daily because of the disease, but compared to many others with AADC he is lucky.

"Jake is in a league of his own most of the children who have been diagnosed are still profoundly disabled. It is just a case of knowing that there is a spectrum of medication available once you know the diagnosis," Lisa said.

"We are just trying to say that there are some children that make dramatic progress if they are detected early and then it is a case of seeing if they progress on medication.

"Jake's quality of life is now 100 per cent better than it was before. He has gone from a wheelchair-bound boy who was unable to communicate and had no real physical strength to a boy who is now able to walk and talk."

The family is planning fundraising events and singer Gabrielle is the patron of the charity.

Lisa added: "We feel blessed that Jake is still with us, but we still have a long way to go."

- To help Lisa and Tony contact them on 020 8654 1090. For more information on AADC visit aadcresearch.org

AADC Factfile
- AADC is a genetically inherited neurological disorder affecting the brain's ability to produce two of the most essential neurotransmitters needed for every day living dopamine and serotonin.

The severity of symptoms experienced by each affected child varies, but the majority of children show minimal motor development in the absence of treatment.

Only 30 people have been diagnosed with AADC world-wide but it is likely there are hundreds of people who have been misdiagnosed with other diseases such as cerebral palsy.