Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early intervention program. Our BabyNet caseworker recommended that she be evaluated by the Greenwood Genetic Center.
We met with Dr. Mike Lyons at GGC’s North Charleston office. He evaluated Makayla and suggested some genetic testing. A few weeks later, he broke the difficult news of Makalya’s diagnosis in a most gracious way. He also immediately recommended we meet with Dr. Steve Skinner in the Greenwood office, who is an expert in Rett syndrome. Though we were overwhelmed at all we needed to know, Dr. Skinner, Fran, and the whole staff were wonderful at that first meeting, giving us all the time we needed to ask questions. Their compassion for families like ours really showed through that day and continues to this day. They have remained accessible and informative, staying up to date on any changes or developments related to Rett syndrome and sharing those as appropriate. They have been so encouraging for our family as we navigate through what, for us, are uncharted and scary waters. We have also enrolled in the Rett Syndrome Natural History Study through GGC.
Despite her diagnosis of Rett syndrome, Makayla is a happy little girl. We are blessed that she can do the things she can do! She can still walk, unlike so many girls with Rett syndrome, but she also skips and runs in short distances when she is excited. She loves being outside, and her favorite thing to do is play in water, at the pool, the beach, and even in the bathtub. Close behind that is riding her rocking horse, which she would stay on for hours if we let her.
She also loves to watch sports, particularly basketball and football. With four older brothers, she has had many opportunities to watch games! And, she loves to dance, especially to Michael Jackson and Johnny Cash! Makayla’s diagnosis has been an incredible challenge for our family, but learning about and dealing with Makayla’s condition has done a couple of amazing things. First, it has drawn us closer together as a family. Second, it has brought out a love in each of us that we just did not know was there. I do not think there is any sweeter sound than when Makayla gets tickled and laughs and laughs. Our boys at times even vie for a turn at holding her, and often we have to kick them out of her room at bedtime! She has and continues to bless our family in so many ways.
To learn more about Rett syndrome visit rettsyndrome.org and the Rett Syndrome Research Trust.
-Hollis and Julie Gunn Mt. Pleasant, SC