Home / Health / Parents Race to Fund Rare Gene Test Abroad
Parents Race to Fund Rare Gene Test Abroad
20 Apr
Summary
- Parents are raising £20,000 for US tests for their son's rare genetic condition.
- Over £10,000 has been raised through 400 donations to a GoFundMe page.
- US specialists offer a place in a research program to diagnose the rare condition.
Parents in Telford have raised over £10,000 towards a £20,000 target to fund essential medical tests for their four-year-old son in the United States. The child, Tommy, has been diagnosed with a deficiency related to the HEPHL1 gene, a condition with very limited research available in the UK.
Tommy experiences significant health challenges, including being non-verbal, difficulties with mobility, seizures, and ADHD-like symptoms. Doctors have identified two rare mutations in his HEPHL1 gene, suggesting it is severely impaired or non-functional. This has led specialists in the US to offer him a spot in an undiagnosed disease research program.
The fundraising initiative aims to cover travel costs to America, accommodation during the estimated one to two weeks of research, and potential future treatments. The family hopes this program will provide answers about his condition, offer guidance on management, and clarify his life expectancy.
