Rare disease day 28Feb2018, I never thought in a million years I would write that phrase. Rare disease, those two words have profound meaning to us now. To be completely honest I never had thought those words. But Jan. 2018 that all changed. Shanna and I were told that our daughter Isabella (Bella) had and extremely rare genetic disorder called ADNP. (See previous post to learn more about ADNP)
As we set the appointment to meet with her genetics team to go over these results, I couldn't wait the two weeks to meet the Dr. I set out on my own to find what I could. That's when I met Sandra Sermone, founder of www.adnpkids.com . She was/is a light in this dark tunnel. As I began to study and learn more about ADNP everything about Bella started to make sense, yet we are left many more questions.
The day finally came that we would get to talk with the team of doctors that OU Children's has helped put around us. As we walked into the Children's Hospital at 08:30 that morning there was a range of emotions, scared and anxious were the two at the forefront. As we sat and I talked I began to realize these doctors have no clue what they're dealing with, after all Bella is the first known ADNP Kid in Oklahoma. So we are all forging a new path and will do it side by side.
As we set out on making the best life possible for our little girl, we decided that we must add several doctors to this already amazing team around us. The time spent in their offices is becoming my own visual diary. I sit there every time hoping that they would lie to me and tell me she will be alright, but no one truly knows, there so many unknowns with ADNP. But if she's not alright, I know she'll be alright. I don't have all answers, no one has all the answers. But, we will not stop trying to find them.
Her silence at times causes me to stumble, but she doesn't speak because words don't mean much, she doesn't need words to show how much she loves. It's more plausible that she's a version of me that's more humble. A lot of times I think she gets more joy playing on my phone or just being left alone. I struggle with the outsiders view of me, because our life is in the spotlight, magnifying all our insecurities. But I know her laugh, and that smile can light up a million rooms.
It doesn't matter what the next doctor tells us or what society may think, we got this and we will keep on keeping on.
As we set the appointment to meet with her genetics team to go over these results, I couldn't wait the two weeks to meet the Dr. I set out on my own to find what I could. That's when I met Sandra Sermone, founder of www.adnpkids.com . She was/is a light in this dark tunnel. As I began to study and learn more about ADNP everything about Bella started to make sense, yet we are left many more questions.
The day finally came that we would get to talk with the team of doctors that OU Children's has helped put around us. As we walked into the Children's Hospital at 08:30 that morning there was a range of emotions, scared and anxious were the two at the forefront. As we sat and I talked I began to realize these doctors have no clue what they're dealing with, after all Bella is the first known ADNP Kid in Oklahoma. So we are all forging a new path and will do it side by side.
As we set out on making the best life possible for our little girl, we decided that we must add several doctors to this already amazing team around us. The time spent in their offices is becoming my own visual diary. I sit there every time hoping that they would lie to me and tell me she will be alright, but no one truly knows, there so many unknowns with ADNP. But if she's not alright, I know she'll be alright. I don't have all answers, no one has all the answers. But, we will not stop trying to find them.
Her silence at times causes me to stumble, but she doesn't speak because words don't mean much, she doesn't need words to show how much she loves. It's more plausible that she's a version of me that's more humble. A lot of times I think she gets more joy playing on my phone or just being left alone. I struggle with the outsiders view of me, because our life is in the spotlight, magnifying all our insecurities. But I know her laugh, and that smile can light up a million rooms.
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