So having been walking this genetic crapshoot for a while, I have learned to appreciate small mercies. To appreciate the little things that swing in my favor. I have always been a glass half full of something kind of person. Dwelling on things we cannot change, solves nothing. Literally nothing. I have learned to make choices and learn from the lessons that sprout from my decisions, good or bad. Regrets only hurt me so I choose to look forward. Enjoy each day that lands on my head.
J is my beautiful, almost 5 year old boy, who is non verbal autistic with sensory processing disorder (SPD). Who has full mutation fragile x and is a carrier for the cystic fibrosis gene r117h 7t. My gene. It’s the rare one that isn’t completely defective. My wonderful, brilliant and happy boy will more than likely never have children. He will never have to worry about passing on his mutations. I have made peace with this. I praise and look forward to all his progress great and small, as he grows and learns to navigate his world with the cards he was dealt. I would love to see him independent enough to feel empowered. I want him to be happy.
A is my precocious and sassy almost 3 year old. She has a 6 month speech delay but is rapidly catching up. She has a full mutation fragile x and one normal x. She has a few ticks related to fragile x, but otherwise she is a bright and involved little girl. She loves people and things. She loves to learn. FX has affected her on a much smaller level than her brother. She is also not a carrier of either of the mutations of cystic fibrosis. She will only have to worry about FX. I know that she will go on to do great things and she loves her siblings. She will be independent and strong. But most of all I want her to be happy.
E is my baby. She is coming in to her personality. She smiles and laughs and loves her siblings. She has cystic fibrosis. So far her health has been good. She looks great and the doctors are optimistic. CF is a life shortening illness. There is no cure. The question will be how short her life will be. I don’t want to bubble her. I want her to enjoy each day. Her mutations give us that. I try not to worry but also make sure that I take precautions. She does not have FX. She’s not even a permutation carrier like me. She cannot pass on CF only a mutation. She will not have the developmental issues like her siblings but medical. She will do great things. She will be a great person. But most of all I want her happy.
We lost the genetic lottery but today I’m thankful for small mercies. None of my kids got hit with a double whammy. Genetics is a crapshoot, all three of them could have just as easily had no mutations and we would have never known. Crazy right?!?