It all started when Sam was a baby. He always had this sideways tilt with his head right from birth. I was told it was Torticollis and that it would go away with tummy time, stretching, blah blah blah. It didn't go away until he was about 1 - which is late. Every time I would bring it up to the pediatrician he would say "he's a boy, boys are slower developing than girls....DON'T WORRY, he's fine". Then I remember flipping through Caroline's baby book and noticing she hit her milestones WAY earlier than Sam ever did. Like, Sam wasn't even sitting up on his own until he was about 10 months old. Strange, but again, the doctor said he was fine and it probably had a lot to do with the torticollis. After our first birthday and he still wasn't close to crawling or talking or anything - we went back to the doctor (warning - most of the beginning of our story goes like this: I was worried, went to doc, doc said he was fine and to stop comparing him to Caroline as a baby).....fast forward about a year and Sam is falling constantly - Nick made a joke that "it's always Ash Wednesday in the Stander house" b/c Sam had a bruise on his forehead All. The. Time. He also had a lot of ear infections. Maybe I should get a second opinion.
We heard about Early Childhood Intervention (ECI) from my sister and they came out to do an evaluation about his speech/gross motor issues. For those of you who do not know about ECI and the amazing work they do, trust me. It's a free service (well, technically I think our taxes pay for it, so it's not really FREE) and they come out to evaluate your child if there are possible developmental issues up to age 3. Mr. Steve came out and agreed that his speech was delayed, probably because of the ear infections and recommended having hearing tests done. Sam LOVED Mr. Steve, and he came to the house every other week to work with us on speech for about a year. On our last visit (b/c Sam was turning 3) he said something to me that I think about a lot - he said "Sam is going to be fine. I think you need to go see a neurologist though to make sure nothing is damaged b/c of the chronic ear infections". I made an appointment with an ENT to get a hearing test. He passed, we got tubes, and things started to turn around. Within about a month, Sam started talking. And running (not gracefully, but he is related to me so running would require a tiny bit of athleticism). Sure, he was slower than the other kids, but who cares, right? Okay - so maybe he won't be the star athlete in high school, but he's fine. The doctor said he was fine.
My sister, Kim, is an Occupational Therapist and my best friend, Victoria, is a Physical Therapist. Between the two of them, I would call and ask questions or see if they could take a look at Sam - I probably drove them crazy. Something wasn't right, but I couldn't figure out what. They both evaluated Sam and suggested PT and OT because he was so delayed and his muscles seemed kind of weak. We also switched pediatricians b/c we had moved into the suburbs and driving to the med center every time someone was sick was stupid. We also switched b/c Dr. Don kept saying Sam was fine, when he clearly was not. We went to PT/OT for a year and every now and then I would ask his therapists "do you think there's something else wrong?" or "do you think he's autistic?" or "what are your thoughts on cerebral palsy?" They aren't allowed to answer those questions b/c they aren't doctors, but they knew. I knew, but their silence was reassuring that it was nothing serious. I was trying to cling to something that I could understand and I just didn't understand what was going on with Sam, but something was going on. It was possible, our new pediatrician said, that because of the chronic ear infections and delayed motor skills, speech, etc - that the fluid behind his ear drums could have caused some neurological problems. (There's that neurologist recommendation again, one year later).
Because of the way Texas Children's Hospital (TCH) and all of the pediatrician offices around Houston work, we had to see our pedi, get a referral, then wait to get a call from TCH Central Scheduling to set up an appointment with a specialist. 6 months! I'm not kidding. The waiting list to get in to see the neurologist at one of the most prestigious children's hospitals in the world was 6 months. Well thank God he's not dying, I thought....
Before our appointment I found the original referral from our pedi - in the notes section she wrote "could this be Muscular Dystrophy?" What the hell is "muscular dystrophy"? Is that like MS? What does she mean? After googling, the past 3 years flashed instantly in front of me. That's it. I had never in my life known anyone with MD. Nor had I even heard of DMD. That would soon change. We saw Dr. Fernandez the week before Thanksgiving in 2012. After a thorough exam, he told us "I don't think this is neurological at all, but let's do some blood work". We left there feeling so good. Thankful. Humbled that our son was going to be ok. 4 weeks later the other shoe dropped - Dr. Fernandez called to say Sam's CPK levels were "high" but it could be nothing. Then he said something odd - "I made an appointment with you to see Dr. Lotze in the Muscular Dystrophy Clinic". Here we go
The rest of the story you all know. January 11, 2013 at 3:15PM. My son has Duchenne. He's going to die from it. It's so strange to be in a situation like this because as parents we are supposed to be able to fix things for our kids. And I can't fix this. The only thing I can do is ask people to join our fight so Sam and other boys don't have to die.
So happy World Duchenne Awareness Day. It's a day that hopefully won't be recognized much longer.
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