Imagine your daughter hitting all her milestones as a typical 12-18 month old. Then, she no longer hits milestones and begins to lose skills like talking and walking, purposeful hand use, and has seizures. Imagine a parent’s struggle to realize that dreams of college, marriage and independence are gone and replaced with ongoing medical tests, hospital trips and 24 hour care. That is the reality of a family with a child that has Rett syndrome.
What is Rett syndrome? Rett Syndrome (Rett) is a devastating neurological developmental disorder that occurs almost exclusively in females. It is the most physically disabling of the autism spectrum disorders. It is usually caused by a mutation of the MECP2 gene on the x chromosome. Rett is found in all racial and ethnic groups throughout the world, and in every socioeconomic class. Rett affects 1 in 10,000-15,000 live female births. Early developmental milestones appear normal, but between 6-18 months of age there is a reverse in their development which includes: loss of speech, loss of motor control and functional hand use, sleep disturbances, Autistic behaviors and sensory issues, impaired cardiac, circulatory and digestive functions, Parkinsonian tremors, seizures, anxiety, apraxia, dystonia, and orthopedic problems including scoliosis and osteopenia. A hallmark of Rett is repetitive hand movements that may become almost constant while awake. Many individuals with Rett syndrome live well into adulthood. There is currently no cure.
We found out a month before Reagan’s 2nd birthday that she has Rett Syndrome. It was shortly after her diagnosis that she lost all purposeful use of her hands, including feeding herself, because of the constant repetitive hand movements. She is able to walk but needs a wheelchair for long distances because she gets fatigued easily. She lost all of her words at 15 months of age and rarely babbles but she has the most beautiful smile and a giggle that warms everyone’s heart. We long to hear her tell us the things that make her happy, or just a simple Mommy or Daddy.
We are on a mission to fight Rett Syndrome and give back to our daughter the things that it has stolen from her! You can visit Reagan’s blog at www.reagan-haley.blogspot.com to follow her journey with Rett Syndrome.
Thank you for your support!