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Published: 00:01, 10 August 2014 |
Tomas Powell has Pelizaeus Merzbacher Disease (PMD), which hinders the growth of fatty tissue around his nerves and means that the signals sent between his brain and other parts of his body are not properly received.
The 21-month-old had a rocky start to life and was diagnosed and operated on for a string of issues effecting his larynx, sight, hearing and motor skills.
Eventually, after a full neurological assessment, Tomas was found to have PMD.
With almost no information about the condition, his parents Matthew Powell and Emma Stewart, of Walderslade Road, Walderslade, took to the internet and were horrified to discover many babies with the condition only live a few months.
Mr Powell, 29, said: “That completely destroyed us both. Many doctors have never heard of the condition.
“It wasn’t until we got to the Evelina London Children’s Hospital and spoke to the neurologist and geneticist that we started to have any understanding of it.”
Luckily, Tomas has the rarest and least severe strain of PMD so it should not affect his life expectancy.
But the couple, who are engaged, have little idea of how he will develop as he gets older.
They have had to muddle through his care mostly alone; with no charity or group in the UK devoted to the condition, they have now taken it upon themselves to start one.
Named Triumph for Tomas, the charity will initially raise awareness of PMD and fund research into the condition.
The couple aim to establish a fund to be used by PMD families for buying specialist equipment and toys, and to provide disability equipment in public areas.
Miss Stewart, 27, said: “We also hope to be successful enough to open and run support groups, a helpline and bereavement counselling.”
It is believed, from research in America, that one in 500,000 babies are born with the condition.
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