The following is a repost from a series of entries made on my personal Facebook page, a play-by-play leading up to our current situation that has me typing away here in Minneapolis.
Back in September, Armand’s pediatrician called Lindy expressing some concern over Armand’s walking, that he kept falling down, and reccomended he get an evaluation from a physical therapist, as well as have some blood work done. Her fear was that his delayed walking and slowing weight gain might be a sign of something wrong with him, even letting out the possibility that he may have muscular dystrophy.
His physical therapist said after an evaluation that he has low muscle tone, or hypotonia. It’s a condition where your muscles don’t develop quit as strongly as they should, leading to troubles eating, walking, small motor movements (like using a fork), etc. It’s rarely it’s own condition, usually the sign of something else, such as (again) muscular dystrophy. His initial bloodwork came back with a slightly elevated CPK level (creatine phosphokinase), an enzyme that is used as a marker for muscle injury death, such as in the case of a heart attack. Muscle cells die as we go, so we always have some level of CPK, normal range is around 150. His was 400, elevated, but not devestatingly so — signs of MD usually are dictated in the thousands if not tens of thousands.
With some concern, he was referred to Dr. Collins at Children’s Medical in Cincinnati. Dr. Collins has asked for numerous tests and to meet with other specialists there, including a pulmonologist, audiologist, optometrist, and an ENT, as well as an MRI. At Armand’s first meeting with the pulmonologist, the doctor asked for a chest x-ray, a sleep study, and a swallow video. After his audiology test, they are asking for one more test.
What we have so far:
- – He has weekly sessions with his physical therapist, who he really seems to like and works well with. He also wears braces on both of his legs to help him balance. The coupling of these has helped him tremendously with his walking and core strength both with and without his braces.
- – We don’t have the results of the chest x-ray as is pertains to the pulmonologist, but Dr. Collins said that his heart is normal, not enlarged, which does rule some things out.
- – His second bloodwork came back normal. No elevated levels that would cause concern.
- – His swallow video was today, where they basically let us feed food dosed with barium while watching on a video x-ray, came back normal, his muscles that guide the food / water down are working fine.
- – His MRI came back with abnormalities that Dr. Collins referred to as hypomyelination. Myelin is a fatty tissue that surrounds your brain’s synapses like the plastic or rubber sheath on an electrical cord, that guides the signals. Without it, your brain’s signals either misfire, or just disappear into the ether. This, like hypotonia, is not it’s own condition, but is something generally a sign of something else. In the best case scenario, it’s treatable, reversable, even curable. In worst case scenario, and this is something I really don’t want to face, it’s caused by something called leukodystrophy, a demyelinating disease that basically causes him to lose that white matter. There are 10 variations of this disease, only one or two have any real long-term treatments or stabilizations, mostly through experimental gene therapy or stem cell therapy.
- – He had a third round of bloodwork done today, the results of which won’t be back for nearly a month, but they should give us a firm diagnosis.
- – His initial audiology test came back saying that he has somewhat severe hearing loss despite his eardrums working correctly, meaning it’s within his nerves, most likely caused by the myelin problems. A second test is being scheduled at Children’s Cincinnati’s Liberty campus, with two of the leading ENT specialists.
Next week he is having a muscle biopsy, and later this month an optometry exam and an echocardiogram. We are still getting ready to schedule his sleep study, in which they will monitor him for a night to see how he sleeps, if he has any apnea.
Those of you who have met Armand, and they are few, know what the rest of you might be able to tell from the truckload of pictures I post: that he’s an amazing, happy, charming, smart, goofy kid who loves life and everyone around him. His favorite pastimes, aside from taking things apart to see how they work, is doling out hugs (complete with back pats), showing off his little belly, exploring everything around him, and letting me know I’m as loved by him as he is by me.
Recently I was given a copy of the new Disturbed CD, which contains a song called “My Child”, with a few lines that I find pertinent should anything be severly wrong:
“My only desire was to trade my soul for yours
Grief crippled me, the reaper cheated me
Left me yearning for the path I’d come to adore”