Couple hope to get son with rare condition to US

Parents of a four-year-old boy with a rare genetic condition who are trying to raise £20,000 to take him to the US for tests, say they are half-way to the target.

Tommy's parents, Emily and partner Mitch, from Telford, said they were told he had an HEPHL1 deficiency, with his mother saying there had been a lack of research into the condition in the UK.

Money raised will be used for travel to and from America and to help pay for any treatments that might become available when research is complete.

More than £10,000 has been raised after 400 donations were made to the family's GoFundMe page.

According to details on the fundraising page, Tommy is non-verbal and lives with ADHD-like symptoms, has difficulty walking, suffers seizures and suspected chronic leg pain.

He has been found to have "two extremely rare mutations in the HEPHL1 gene" and in "simple terms the gene that should help his body function is likely severely impaired or non working", it stated.

In a separate entry on the page, Emily and Mitch said their son had been diagnosed with autism and they were "absolutely blown away by everyone's support".

"He has been so unlucky in this life so far and this [fundraising] is giving us a chance to improve Tommy's life and understand his every need.

"If we can reach this goal to make our beautiful boy's life even 1% easier, less painful and find out if this affects his life expectancy then we will do everything we can."

Doctors believe the mutations could be "disease-causing - but because this condition is so incredibly rare, they don't yet know what disease" and how it might progress, the family said.

They added specialists in the US offered Tommy a place in an undiagnosed disease research programme.

This initiative could help identify what condition he had, assist the family to learn how to manage it and give an understanding of his life expectancy, the page said.

Part of the money would be used for accommodation while research was being done over about one to two weeks, it stated.

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