So I better start from the beginning...
Within the first couple of months after Kai was born, we noticed his eyes had a hard time focusing (they moved side-to-side all the time. As Kai got older, we also noticed he wasn't hitting his "milestones" on things like holding his head up, rolling side-to-side, etc. We chalked it up to the fact I wasn't doing much tummy time with him as he was in full leg (hip to toe) casts so doing tummy time was not really possible. His doctor figured he would catch up once we were done with casting.
Well, things didn't improve like we expected it to. By 5 months, Kai still wasn't holding his head up and his head was "shaking" more. So we met with the neurologist at Seattle Children's on February 8th and scheduled an MRI for the following week. On February 15th, our sweet little man was sedated and an MRI was done. Once he woke up from the anesthesia we left and had no sooner started driving out of the parking lot when the neurologist called. I was driving so Michael took the call. I continued driving as the neurologist said we didn't need to come back to talk. After Michael got off the phone he said we needed to pull over to talk. I felt like we needed to be as close to the temple as we could without going inside, so I drove up to the Seattle Temple and Michael gave me the news. Kai's MRI came back showing abnormalities and they were sending his blood off to be genetically tested. Then the three words I never imagined I'd hear...Pelizaeus-Merzbacher Disease (www.pmdfoundation.org).
The doctor wasn't 100% sure this was what Kai had but was 70% sure, so he wanted to let us know so we could start to educate ourselves on it. And boy did I start researching! I read everything I could find online about it. As much as I didn't want to admit it, it fit. Kai matched so many of the symptoms, it was going to be near impossible for him not to have it.
The middle of March we received a phone call from Seattle Children's. Kai's genetics test came back...POSITIVE. Our son had PMD. Not just that, he had a point mutation of PMD (which is even more rare). Then, on top of that, the mutation only had one other documented case (and that male was 18 before he was diagnosed so there was no info on this mutation in infants). By then I had come to grips with it. I'd decided that it didn't matter what my son had. He was my child and a special spirit from my Heavenly Father. I was entrusted with this special person whose smile lights up any room he's in. His laughter is infectious. He is a perfect little angel sent from heaven!
Since then our lives have become even more busy with physical therapy, in home nursing visits, dealing with insurance, and loving our little man.
Our son may have PMD, but he has all ready shown he's not going to let it stop him! He is growing by leaps and bounds and amazes us more and more each day!
He's our little monkey and we love him!
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