Emmett's First Week and Biotinidase

Everyone warned me about 3 kids. I was warned so much I kind of got annoyed by it. I was so overwhelmed already thinking about how hard it was going to be I didn't really want to hear more about it. Let me tell you the truth, they were right.We came home from the hospital on Monday and the countdown started until my mom was coming Saturday. 

Kenzie of course accepted Emmett with open arms. She loved him and was gentle. Clara couldn't be bothered with him. She was doing her own thing and excited about having her dad home so much. Like I mentioned before, Emmett cried most of that second night in the hospital. That's about how the rest of his first week home went. Despite my best efforts to keep him up during the day, he was so backwards and just spent all night up fussing. 

This isn't a post to complain, just to document how I felt. I don't know how to describe how emotionally overwhelmed I was with 3 children to worry about on a few hours of broken sleep. My anxiety got the best of me and I would lay awake stressing. Emotionally I was a wreck and cried every day. I loved my baby, I just wasn't sure how to handle my life.

I was so blessed to have very minimal trauma to my body. It helped that my labor was a little slower and that I walked a lot at the end of my pregnancy.
I failed to mention the blanket I made before Emmett was born. It's one I found off of Pinterest and fell in love with. It took me hours and hours to make but I love it. It's pictured below

6 days after Emmett was born, I took him to his first pediatrician's appointment. When the doctor came into the office, she was really somber and asked if I would sit down. She then told me that Emmett's newborn screen results had just come in and there was an issue with it. His test for biotin came back with no activity which indicated there would be a high possibility of him having something called biotinidase deficiency. She handed me an information sheet that explained the deficiency. Side effects are mental retardation, seizures, blindness, deafness, coma and death. I obviously started to panic a little bit and my doctor was extremely kind. She apologized for not knowing a lot about the deficiency but told me that blood work would be needed asap and he needed to start supplementation asap. She allowed me to use her personal cell phone (mine was in the car) to call Keith to tell him what was going on and to call the geneticist at the hospital to set up blood work for him. The geneticist calmed me down and let me know that it was easy to treat and where to go to buy the vitamin. She also told me some things to look for and asked some questions about Emmett's condition.
We were able to go in for blood work the following Monday and heard results on Friday. The time in-between was long and I spent several nights awake and worried that irreversible damage had occurred to this perfect baby I held in my arms. We would love him regardless but there were days that week that myself, Keith and my mom thought Emmett might be blind. On Friday we received the call from the geneticist. She told me that he had two gene mutations that were causing the deficiency and he in fact had partial deficiency, not full like his screen had indicated. We felt very blessed because partial is almost 100% treatable with supplementation and there are rarely any severe issues. It would also save him years of not having to visit a geneticist and receive blood work. His most serious issues will likely be hair loss and skin rashes. We're so grateful to be in Kentucky where they screen for this so we can treat him early on.