Welcome to what will, hopefully, be a blog people actually read. I’ve decided to start writing on here for a couple reasons. First and foremost, there are lots of family and friends who care about Blake and us that are very far away. I’d like to be able to share as much as I can with them and Facebook doesn’t really cut it. Second, I’m hoping to share some information about SMA so people can be aware it exists. I want to explain how we got to where we are today. I’ve been asked so many questions; this might be a better way of answering them. Third, I want to be open about how very difficult life is for our family these days. I hope, if I can be open about it, maybe it will help someone else or even help me. Getting thoughts out on paper makes life a tiny bit easier, even for a moment. Finally, I really want to share all of the amazing and joyful moments we get to have. There is still sunshine and so much of that is in our baby girl.
Full disclosure: I’m not a professional writer, so sorry about that.
With all that being said, here we go…
Blake Avery was born September 17, 2015 weighing 8 pounds, 10 ounces. She was healthy with Apgar scores of 8 and 9. She passed all the screenings in the hospital and we were able to leave less than 24 hours after she was born. Jeff and I were excited to finally be a family of 4. Everyone loved Blake, including her big sister.
Blakey (as we often call her) had muscle weakness noticeable to us at about 2 months old. When I brought up concerns at her well child check, since she had never lifted her head, I was told she needed more tummy time. For the next 5 weeks I did a crazy amount of tummy time and she still never lifted her head. I emailed our pediatrician to express my concerns once again. She told me she would take a look at her during her 4 month well child check. As we suspected, she had low muscle tone and gross motor delay. She was referred to Physical Therapy and Neurodevelopmental for evaluations on just how bad her low muscle tone was. We went to Seattle Children’s Neurodevelopmental Clinic. We met with an ARNP; we were told Blake didn’t appear to have any neurological issues. She said her reflexes were present and she didn’t show any of the signs or symptoms a neurological or neuromuscular issue would cause. She actually told us she was hopeful Blake would catch up developmentally. A genetic factor was her first idea, but she assured us she didn’t have anything particular in mind. I’ve never ‘googled’ so much in my entire life. I had no idea what “neuromuscular” was, or the significance of reflexes. I learned about many different syndromes that could cause low tone. We’re talking lists of hundreds of syndromes. I would try match Blake with something, anything; I just wanted to know why and how to fix it.
We started physical therapy, water therapy and anything else we thought might help Blake get stronger. We worried a lot but we were hopeful. We thought the worst case scenario would be she’d never be able to walk. That was terrifying, but we got to a place where we realized that was OK. We wanted her to be able to play and be happy; everything else didn’t matter. She was so happy and smiling all the time. She still is the happiest little thing. At about 5 months things still weren’t sitting well with me. SMA, or Spinal Muscular Atrophy, had been brought up to one of our physical therapists but not directly to us. We heard about it by mistake because the therapist was less than professional. I freaked out. I had heard SMA mentioned before but I didn’t know much. All I remember thinking is SMA is really, really bad. I called the ARNP we had seen to ask her about SMA being a possibility. She assured me that it was not even on her radar. She told me babies as young as Blake have profound weakness and need help with eating and breathing. I felt a little better but I wanted another opinion. We got an appointment with a different provider in the Neurology department. Blake was 5 and 1/2 months old. We prepared for our visit on March 9. There was no way we could’ve been prepared.