We were recently asked to put together something that not only helps explain briefly what Rett Syndrome is (see video below), but also shares from Claire’s perspective what it is like for her to live with Rett.
Claire is our third child, our baby… born healthy and happy 5 years ago. She met all of the developmental milestones her older brothers had met within her first year of life. She said “mama” at 5 months; followed by “baba”, “dada”, and “ma” for more, or “don” for all done. She sat up by herself, pulled herself up from sit to stand, and walked. She crawled; and once standing, was able to figure out how to sit again and move around. She was able to go wherever she wanted. She loved to play with her toys, and held everything she could get her hands on. She especially loved holding her “Violet” stuffed animal, who, when she touched the various buttons, would play songs and make her smile. She brought Violet everywhere! She fed herself finger foods, and independently drank from a bottle or cup. She was able to stand up in her crib in the morning to let us know she was “up” and ready for us to get her, after calling out to us.
When she was 12 months old, for a few months, her hands started to tremble uncontrollably. She lost her smile and went inward. She didn’t move around as much. She had a blank stare. She cried a LOT, and we had no idea why. In hindsight, it was because she was confused and frightened, not to mention frustrated because she didn’t know what was happening to her body.
She was soon diagnosed with Rett Syndrome. They told us the Rett mutation she had, was the most severe form compared to other forms, more atypical in nature, where the girls lose some skills, but not all. As the months progressed, and fast forward 4 years, which bring us to today, despite the hours and hours of therapy each week, Claire lost an incredible amount of function. Unless there is a cure for Rett, she will not get any of those skills back. At least, the chances are very slim. But we still go to therapy because of the small chance it could happen. Plus we want to keep her muscles as strong as possible, and keep the pathways in her brain working, so she can maintain her current level of skill.
She is totally dependent on others for everything. Her physical function and ability is the same as an infant under 6 months. Only, her body is definitely bigger and will just continue to grow. Mentally, emotionally, and cognitively, she is also age appropriate. She is just like any other 5 year old; only she’s trapped physically inside her body, with no words to express how she feels or get someone’s attention should she need to. She depends on others for everything, to get her everything she needs. A drink. Food if she is hungry. Change her positioning if she’s uncomfortable. Does something hurt her? What is making her sad or mad? What is she so excited about or what story does she want to share with you? The list goes on and on. The easiest way to describe Rett, in my mind, is to compare it to a kid like version of ALS (loss of physical, not mental/ emotional skills), sprinkling it with autistic type tendencies (sensory issues), plus a lot of medical issues. I want to keep her little and young as long as possible: I hear from other Rett moms how difficult the teenage years are because you have added hormones and emotions. So – focusing back on today…
I am humbled everyday by Claire’s ability to keep going and to keep fighting… many days with a smile on her face. As her mom, I wish I could do the same. 5 years later, it still breaks my heart in the deepest way that I cannot explain in words. I may appear happy and strong, but deep down, I am not. Does it get easier to watch Claire suffer every day? No. It gets harder, and as she gets older and as I see what other 5 year olds are doing, plus children younger than her, I can only imagine what’s going on inside her mind. That’s the part that makes me sad. Going to parties and outside events is tough; I’m not going to lie. I try to push those sad thoughts that I have for Claire out of the mind; I try and include Claire with the other kids because I remember being 5 and running around nonstop, making up games with our imaginations, playing tag, being silly, and having so much fun. Including her with peers her age is physically a lot of times easier said than done… so as a backup, we always have her music on hand… we crank that up for her, because that will most likely always make her smile!
Things can be so much worse; this I know. I am not posting this for any reason other than to truly share our truthful experiences with what Rett Syndrome is, based off being asked to do so. We are blessed with SO much love from our friends and family. The support is incredible. It’s just that as a mom, when you see your child struggle, no matter what the situation may be, you know… it’s tough.
Anyway… here’s that video we put together. Claire Marie… we love you beyond words, and are so proud of your ability to fight… every single day!!