Until she was about a year old, Minna seemed like your average, healthy baby girl. Soon, however, we started to notice some dramatic delays in her development and began the process of diagnosing the underlying cause. We immediately began therapy and visited a number of specialists in Phoenix and Tucson. Finally, at 21 months of age, after numerous tests and a full genome sequencing of her DNA, we were heartbroken to learn that she has Rett Syndrome.
Fortunately, we believe Minna has a milder version of the mutation in which one single letter of her gene coding is incorrect. 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. We truly thought she was going to pull ahead and come out on top. 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.
Support at the state level has also been a blessing. Arizona is actually ranked number one in the nation for serving people with developmental disabilities. Minna has qualified for Arizona’s Long Term Care Medicaid program and receives intensive therapy almost every day of the week including physical, occupational, speech, feeding, music and swimming. She attends a special needs preschool program and loves to socialize and engage with people. She understands the world around her and she will slowly continue to learn and progress. Though Minna cannot verbally communicate with us, her eyes express so much. She has such a unique disposition and smile that have already taught us so many life lessons, which we would have never had the opportunity to learn otherwise.