She is everything beautiful & different.
She is our daily dose of sunshine on a cloudy day, radiating so much joy you can't help but smile. She loves so hard it gives you all the feels, her snuggles are the absolute best. She is our wildflower, we find beauty in the days through her. She is our easiest baby.
Ryan was born on September 7th, 2017 - she was a healthy, tiny 5lbs of perfection. Delivery was smooth, natural and so fast (but that is a story for another day!) We brought her home just two short days after she joined us earth side. We were all on cloud nine and loving having a newborn at home again.
Fast forward to her routine check up around four months old, she looked great. She was gaining weight, happy and healthy, but she wasn't bearing any weight on her legs. She wouldn't use them like babies generally do at her age. She had no interest in rolling over and it was the first time we were told she wasn't meeting her milestones.
Ryan had a lot of markers for down syndrome so we decided to do chromosome testing. We knew that there could be complications related to down syndrome so we wanted to get ahead of anything that needed to be managed. - The test came back negative and we were back to square one with not knowing why she wasn't hitting her milestones. Around eight months she still wasn't using her legs, rolling over, babbling and still not meeting any of the typical milestones, she was coming in significantly delayed. We decided to do more testing to see if she would qualify for therapy. We did testing for SMA, MD and Cerebral Palsy. All of which came back negative. We were at a loss and referred out to a developmental specialist for another opinion.
The specialist determined that Ryan was significantly delayed and ordered an MRI of her brain, an extended chromosome test, and an ultrasound of her hips. The MRI of her brain came back beautiful as did the ultrasound of her hips, her chromosome test came back that she had four duplicate copies of the same gene on chromosome three and a deletion on chromosome ten. We were then referred out to a geneticist so he could tell us what those duplicates and deletions meant. What we didn't know was how rare this was, we didn't know that we wouldn't have answers walking out of his office. He told us that what she has is so unique, that its "unclassified" which means there hasn't been enough people who have been tested show this exact mutation. We were again, back to the unknown, it is a really worrisome place. Not knowing any kind of baseline to go off of when it comes to development or health. Every little thing she accomplishes, every delay, her heart defect, literally everything is new. We don't know anyone walking on the same ground as we are in regards to this mutation.
Navigating all of these unknowns has been hard, it has taught us lessons in patience and accepting the things we cannot change, like knowing what to expect. We wouldn't change our baby girl for the world, but I can say we would love to know ways that we can know and learn her better. That isn't possible right now until they can create a study and have more research behind this mutation - but through therapies and taking this journey day by day we know that there is only progress to be made.
Ryan just turned two, that was tough that our little baby is already the big T-W-O. She is furniture walking, crawling, pulling to stand, you can show her a set of flash cards - ask her identify one and she can. Our girl is smart, she is still non-verbal but we are working on a card communication system like "PODS" - (or something similar) to make it easier for her to tell us what she needs and wants. Her therapists, and specialists are confident that she will fall on the Autism spectrum based on all her sensory processing disorders - but she won't be officially diagnosed for another few years. She has difficulty with loud environments, she can only eat smooth purées or she gags, and a handful of other presenting factors. She makes progress every single day and we are so grateful for her and all her unique needs. We are grateful for all that she is teaching us, she was carefully made just for our family and we wouldn't change a single thing about her.