Myhre Syndrome

Our daughter Maddie who is now 9 was born with health and development problems and has spent her young little life in and out of hospital. At 9 months she had surgery to fix her heart, she continued to be a mystery for all doctors in every profession and everytime she presented with another problem it was back to the hospital for her to be pricked and prodded. We joined genetic trials to see if there was an underlying cause for all Maddies difficulties and health issues. 4 years after joining the DDD trial we had a phone call to say we have a diagnosis, Maddie had just turned 9 at this point so we had gone a long 9 years without an answer. There was no relief at what the Genetic doctor told us as we were told that the syndrome maddie has is so rare there are only about 50 cases world wide and so information regarding the condition was limited. Its fair to say the information listed filled us with pure dread and everything felt like it was falling apart, knowing that in the future Maddie will need more heart surgery and other body parts can be effected and that joints on her body are super tight and causing her pain along with the constant ear infections. The future felt very uncertain, until we found a Facebook group for Myhre support with 112 members, we were welcomed into the group where we all share our own stories and help each other out with what to ask doctors for as currently our families are the ones writing the future and the paper work for new diagnosed children. We were so lucky to meet 6 other Myhre families is December where we got to share our highs and lows and just be amongst people who really understood. The children had a blast too. We realised as a group that we need to get the MYHRE name out there to bring awareness and who knows a cure so fundraising is the way forward. Maddie is currently doing well, she has had casts on her legs recently to try and release the muscles to help her walk better, heart surgery will be carried out in the coming years and we know what ever life throws at Maddie she will do what she always does and shows us that life is definitely for living in the super fast lane!