After a rough and scary start, we were so excited to learn that Kenzie was a healthy baby! She rolled and sat right on time. We did notice that she was extremely flexible, but we thought it was funny! Around a year, we started noticing that something wasn’t quite right. Kenzie didn’t crawl, wasn’t pulling up, seemed weak, and was just generally not meeting any gross motor milestones. That officially started our journey towards Kenzie’s diagnosis.
After months of Physical Therapy and Occupational Therapy multiple times a week, she still wasn’t improving at a fast enough rate. We went to a developmental pediatrician and then a pediatric neurologist. Towards the end of August, we received the diagnosis of Spinal Muscular Atrophy (SMA) 2. We were devastated. Kenzie is now being cared for by a large team at Shriner’s Hospital (Neurologist, Orthopedist, Geneticist, Social Worker, PT, OT, etc).
Two months later, our prayers were answered! We found out that Kenzie was misdiagnosed and does NOT have Spinal Muscular Atrophy! Unfortunately, Kenzie is not out of the woods. Kenzie does still have an unknown neuromuscular disease. We are very happy that they are confirming that this is a neuromuscular issue, and that her cognitive skills are not affected. In fact, they say she’s very advanced! Our journey now becomes trying to figure out the diagnosis. In the meantime, we will continue her intensive PT and OT schedule to try to build her muscle. We will also continue to work with her on getting around with her walker and wheelchair. We will also still be working with her team at Shriners (neurologist, orthopedist, geneticist, PT, OT, social worker).
Kenzie has one of following neuromuscular conditions:
- one of the many forms of congenital myopathy
- one of the many forms of muscular dystrophy, but less likely to be a degenerative form like SMA
- an undiagnosed neuromuscular condition (1/3 of patients go undiagnosed)
For any of these, there’s a broad spectrum of what this could mean for her. We consider this amazing news, and we are cautiously optimistic!
Through a lot of PT, we are really enjoying watching her get stronger and experience new things. She is very pleased with herself and loves to show off when she accomplishes something new! She loves to snuggle, hug, sing, dance, and she is extremely verbal. She also loves playing with her big sister! Kenzie is a sweet and happy girl, and has no idea that other kids her age can walk and run. Looking toward the future as her life begins to change and she becomes more aware, we know that she will keep sharing her infectious smile and incredible hugs.