Faith, a five-year-old girl from Ballyclare, Northern Ireland, has a rare genetic mutation that causes her to suffer from multiple diseases simultaneously. This condition is considered extremely rare, with only a few cases ever recorded in the world. Despite being born prematurely at 30 weeks and 6 days with several health complications, including a hole in her heart and a small brain bleed, Faith was discharged from the hospital ahead of her due date. However, as she grew older, her development was significantly delayed, and doctors initially suspected she had cerebral palsy. Further testing revealed a rare genetic mutation that is causing Faith’s series of health problems.
Faith’s parents, Rachael Duff and her family, have been searching for answers about their daughter’s condition. Recent genetic testing revealed that Faith has a pathogenic variant of the congenital ELOVL1 gene, leading to various health issues such as stage three kidney disease and an ineffective bladder. Doctors have labeled Faith as a case study due to the rarity of her condition. However, there are still many unknowns about the long-term effects and progression of her illness.
Despite the challenges, Faith’s parents have established a fund to support their daughter’s ongoing treatment needs, including physical therapy and mobility support as she continues to grow. The family recently received some positive news when a hole in Faith’s heart closed naturally without requiring surgery. While there are still many uncertainties surrounding Faith’s condition, her family remains hopeful and committed to providing her with the best care and support possible.
Faith’s story is one of resilience despite facing numerous challenges from birth onwards. Her parents have been tireless in their search for answers and treatments for their daughter’s condition while also finding joy in celebrating small victories such as the closure of her heart hole.
Moreover, this case study highlights the importance of continued research into rare genetic mutations like Faith’s ELOVL1 gene variant to better understand their long-term effects and potential treatments.
As we continue to follow Faith’s journey towards recovery and wellness, we cannot help but admire her strength and determination in overcoming such significant obstacles at such an early age.
