Rett Syndrome is a serious lifelong neurological disorder that is caused by random mutations in a gene called MECP2. Diagnosed almost exclusively in girls, symptoms typically appear in toddlerhood. Many children with Rett are unable to speak, walk or use their hands. Breathing problems, feeding tubes, seizures, anxiety, gastrointestinal and orthopedic issues are common.
Rett in real life:
For 13 years, Jim and Audra have fought for their daughter Sophia to have a Second Chance. Their friendship with the newly diagnosed Van Arsdales reminds us why we all keep fighting.
An open letter from the Van Arsdale Family
As you may know, we have recently experienced some dramatic developmental delays with our daughter Minna . She progressed normally for about a year, at which point we started noticing that she was no longer meeting her milestones. We immediately began therapy and started seeing a number of physicians and specialists in Phoenix and Tucson. After months of testing, we were saddened to learn that Minna has been diagnosed with Rett Syndrome.
Rett Syndrome is a very rare and severe genetic mutation that primarily affects females. A child with Rett Syndrome will begin to experience impaired brain function between the ages of 6 to 18 months. This leads to diminished speech and motor skills, leaving many children with Rett Syndrome unable to walk, talk or use their hands. In addition, Rett Syndrome often brings respiratory, feeding and GI issues, seizures, scoliosis and other challenges.
We have no way to tell what symptoms she may experience and to what degree, but we are hopeful that she will continue to progress and possibly learn to walk and communicate to some extent. Despite her challenges, she continues to be a very sweet, happy and content little girl.
Our family was completely devastated by this diagnosis. It was really a ‘worst case scenario’ and some days are all smiles, while others are all tears. Small victories mean the world to us now and if there is one thing we’ve learned in the past 6 months it’s that we have an amazing care and support system surrounding us. From family and friends to doctors and complete strangers, the amount of love and support has been a transformative force in our lives.
Currently there is no cure for Rett. However, there are amazing scientists and medical professionals working on a solution. Gene therapies and gene editing are being studied around the world, and scientists have pinpointed both the exact protein that is affected in the brain and which gene is responsible for producing that protein. Doctors and researchers believe that they are close to a breakthrough, and once a cure is found, the symptoms associated with Rett Syndrome may be reversable, regardless of age.
We are focusing our efforts on supporting those researchers, we believe, have the best hope of finding a cure for Rett Syndrome. This drive has lead us to partner with another Arizona family, the Smalls who are equally as passionate to find a cure for their daughter, Sophia. Their organization, Rett Eliminated Together Today and ours, Mission Minna, are teaming up to create a powerful event to raise funds for our cure.
This year’s event, Derby Social, A Cure for Rett gives us the power to do the one thing we can for our daughters, find a cure. We want to thank everyone for considering this cause and all the love and support we continue to feel for Minna.
Chris and Caroline