The Beginning

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.

19 thoughts on “The Beginning

  1. Thank you, dear Stephanie, for so generously and so beautifully sharing your family’s extraordinary story. Please keep writing. Love from Aunt Marcia


  2. Thank you so much for so bravely sharing your journey with us. While I cannot even begin to fathom what you are going through or feeling, please know you and your amazing and precious baby girl are in my deepest and most sincere prayers.


  3. Our thoughts and prayers are with you and your family every day Steph. Thank you for sharing your story. I’m so sorry you are going through this.. Embrace each day and stay stong momma.


  4. Stephanie you are amazing. Surround yourself with those who love you and you will continue to “find sunshine” you are all beautiful❤️ Hugs to Blakey and Kenley…and you and Jeff too!


  5. Stephanie! This is a perfect way to keep everyone up to date on your journey without exhausting yourself any more than you have. I’m so proud of you and Jeff for being amazing parents and loving your children. I think about you all daily and send our positive thoughts to you all.


  6. Ever since I talked to Cynthia, and she told me this devastating news, I have thought of you all each day. I send you the warmest hugs and prayers. I will share this blog so my friends will “know” your sweet Blakey and about SMA.


  7. Steph,
    You and your sweet family are in my thoughts. You are a great mom and I’m so proud to know you and of the women you have become. No one should have to go through what your family is going through. Thanks for sharing.


  8. I am distant family in Oklahoma. Thank you so much for sharing, I will share it for all as well! Blakey is so beautiful!


  9. Stephanie, We have only met a couple of times and once when you were very young, but we are family! I know there is nothing I can say but “Thank You” for sharing your journey but especially for sharing your beautiful family! I consider a privilege to get to know you, Jeff, Kenley, and beautiful Blakey! I’m sorry we didn’t get to come visit when we were in Seattle in March! Please know that you, Jeff, and those precious girls have people in Oklahoma that love all of you and will always have you all in our thoughts!


  10. This is a wonderful idea, Stephanie. I also hope it helps you but I can assure you that, being too far away, it helps me. Your courage, love and commitment are awe inspiring. I love you all.


  11. You have proven how loving and brave you are. We send love and strength to all four of you every second of every day.


  12. Dear ones, I’m in awe of you all and how you are honoring sweet Blakey and your beautiful family through your blog. I hope sharing your fear and pain, joy and sweet moments bring you a measure of peace as you educate and encourage others to seek genetic testing. Loving you as much as humanly possible…and a little bit more!!


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