I feel like I have written this post so many times before, and I guess basically have but under different circumstances. Results from autoimmune workups. Results from infertility workups. Results from two-week wait blood draws. Same emotions, different set of circumstances.
The real difference this time is that we are talking about my child and the anguish is far worse. I’ve already reached the end of Google searches (and I am only one week into the two months we have to wait on results). I am a mess on the inside and having a hard time moving through the daily motions.
Sabine saw another specialist last week and some genetic tests were ordered. We had to sign a stack of paperwork for these tests and all three give blood. We have entered the realm of genetic syndromes where there are no treatments. There are no cures.
Part of me, the obsessive compulsive who likes to put everything into boxes and categorize life, desperately wants a label. I want to be able to tell the naysayers that THIS is why Sabine is the way she is and prove that it is in no way my fault.
The other part, though, is terrified of what this label could confirm. The syndromes we are testing her for are in the arena of “rare diseases” with very few people suffering from them. There are huge phenotypes to these syndromes meaning one child might have severe learning disabilities and physical limitations while the other have extremely mild expression. At the moment, if Sabine tests positive she will luckily be in the mild phenotype, but we still don’t know what her future holds. How will she do in school? What other medical complications will accompany this syndrome as she ages? Will she grow up and be able to have children of her own? These are extremes, yes, but they still keep me up at night.
Adding another complex layer is my fear that these tests will come up empty-handed. One of the syndrome tests only has a 60-70% accuracy rate, meaning even if the test is negative, she could still have it. So what then? Will she be labeled or not? How will we track her? Children with this syndrome have a much higher incidence of kidney cancer. How will we watch for this? Will we watch for this if she is not labeled?
Then there is my personal insecurity. How would I handle a diagnosis? Of course I will love her dearly and forever, and of course I will do everything in my power for her, but that does not mean it will be easy. Or that the journey might not be lonely. Or that the constant judgement people pass on parents will not be that much worse. Am I strong enough?
And finally, there is still the best case scenario that NOTHING is wrong with Sabine and that all this worrying will do nothing more than give me more wrinkles. There is the chance that she is just a small person, growing on her own wonky curve and sporting a few random physical markers and delays. My husband is doing an excellent job believing this is the case. He reminds me daily of the progress she is making (we have so many single words now, y’all!). He spent 10 minutes researching the potential syndromes we are testing for, determined she does not fit any of them and now sleeps soundly at night and does not worry. What I would not give to be just like that. But I’m not.
One week down. Six to seven weeks to go….