At our older son Peter’s 4-month check up, we mentioned to his pediatrician that we noticed that he only turned his head to the left when he laid on his back. We felt something was wrong, but his pediatrician dismissed us saying that he was fine and he would grow out of it. She probably thought we were merely first time parents with overactive imaginations. At his 6-month check up she finally acquiesced and referred us to a cranial facial specialist but only because Peter was developing a flat spot on his head from always laying on that side of his head. The visit to this specialist diagnosed Peter with torticollis, his first diagnosis, and prescribed physical therapy.
After a year of physical therapy and little to no change in Peter’s neck muscle strength, we returned to the cranial facial specialist wanting to know why we weren’t seeing an improvement. He felt we needed to give it more time and that sometimes torticollis took awhile to resolve itself. Nothing seemed out of the ordinary to him.
Because of these experiences and so many more like it, I am so grateful for the doctors and therapists who did listen to us over the years. The physical therapist who, unlike the cranial facial specialist, agreed that we should be seeing more progress in therapy. Her referral to an orthopedic specialist eventually led to Peter’s clinical diagnosis of Congenital Fiber-type Disproportion Myopathy.
I’m appreciative of the pulmonologist who listened to us after we received the boys’ genetic diagnosis and ordered a sleep study despite it going against her standard protocol. Even she, the best pediatric pulmonologist in the state with decades of experience, was shocked when the results came back and it became clear that both boys’ CO2 levels were dangerously high when they slept.
I used to get upset when we met a doctor or medical professional who had never heard of SEPN1 related myopathy, but it doesn’t anymore. It is an extremely rare disease. Now I’m thrilled when they realize that I’m the expert in the room, and they need to listen to my opinions and ideas on care and treatment for the boys.
We still need the doctors and their expertise. No question about that. But I have learned that in the world of rare disease nothing beats a Mama Bear’s gut feeling.