When Heidi was born there were no concerns about her health and even when she started to not reach milestones the professionals said she was fine. As Heidi's parents we knew something was wrong. The road to getting a diagnosis has been a long one and we were told for 9 years that she had an undiagnosed syndrome. In 2018 a fault in Heidi's MECP2 gene, which usually identifies Rett Syndrome was detected through the 100,000 Genome Project. However, it was thought she did not have Rett Syndrome as she had not had a period of regression which most people with the condition have when they are a few years old.
In February 2020 Heidi was diagnosed with Rett Syndrome after she experienced a late regression where she lost some hand function. Her mobility reduced and she started experiencing some motor planning issues and breathing difficulties.
Rett Syndrome is a rare genetic disorder that affects brain development and causes severe physical and learning disabilities, each person with the condition is different. Heidi now almost constantly wrings her hands and she is finding it harder to walk distances, climb the stairs and stand up off the floor. Her breathing has been affected and she hyperventilates and heavy breathes most of the time, which can be exhausting for her.
As Heidi was diagnosed 2 weeks before the first Covid-19 lockdown she has been receiving support and therapies over zoom and we haven't been able to see many professionals face to face. Everyone is working really hard to help Heidi keep the skills she has and improve where possible. The specialists don't know how much Heidi will regress, as her journey is so unique and very rare to regress so late, but everyone is staying positive and hopeful.
Although Heidi has been through all of this she has the best sense of humour and makes everyone laugh. She loves swimming, horse riding, playing with her 3 year old brother Edward and spending time with her family and friends. When you see Heidi smile you can't help but smile yourself.