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Jack's birth was uneventful and neither we, nor his pediatrician, ever imagined anything was wrong in those first few
months. Now, looking back of course, the signs were there: when Jack rolled over his shoulders looked so oddly
twisted they seemed almost to pull out of their sockets (hypermobility/flexibility usually accompanies hypotonia) and
when I lifted him it felt almost as if he was so loose he might slide through my hands. But it wasn't until he started
sitting at 7 months and had a pronounced, unnatural slouch that I started to suspect something wasn't right.
When Jack was 14 months and still not crawling nor pulling up (and we first heard him referred to as "hypotonic" or low in
muscle tone), and also not babbling, pointing, nor reaching any of the typical milestones, we were sent to a developmental
pediatrician and her team. In the three years that have followed, Jack has been seen by several pediatric neurologists,
geneticists, a gastoenterologist, a cardiologist, an orthotist...about every "ist" there is! He has had more tests than
I can count. Some of those tests were for disorders that the specialists thought were quite likely, some were just long
shots or ruling-out types of tests. Some were tests for scary, fatal disorders, some were for static ones. In
the end, however, they were all negative and an MRI of his brain showed normal development.
Then, last fall, we saw a geneticist at Boston Children's Hospital who felt strongly that Jack has a disorder called
FG Syndrome which is caused by certain mutations on the X chromosome. We will get a second opinion from the top expert on
FG in the country soon, but it seems to be a good fit for Jack. If you'd like to know more about FG Syndrome, check out the
link at the bottom of the home page.
At the same time the geneticist was suspecting FG, a neurologist at Boston Children's suggested a congenital myopathy
as a possible dx. At the time it seemed unlikely to us (and to our other neuro), but now, 8 months later, his clinical presentation
seems to fit a myopathy in many ways. We will have a muscle biopsy in the fall for this reason. They will also check the
muscle sample for mitochondrial dysfunction.
Jack has many genetic markers that could indicate certain genetic disorders. Some of those include clinodactyly of his
right hand (a permanent hook of his 5th finger), a pectus excavatum (sunken chest), a sacral dimple, a certain cowlick, and
a heart murmur (for which he will soon have an echocardiogram).
Jack has also historically been very thin due to poor eating and low caloric intake. He usually falls at around
the 75% in height and the 10% in weight and because of his low body fat and low surface area, Jack tends to vomit and dehydrate
quickly when he gets a virus--even when the same virus acts more gently in other children. Usually he has at least
two winter hospital stays due to dehydration. He has had a recent weight gain however and we are hopeful this winter
will be much better for him. (Knock on wood!!)
Where he's at now:
Jack is currently progressing very well in many areas. At 4 years old, he can run (although slowly and with an
unusual gait) and climb about anything found on a playground, including tall ladders. However he still cannot jump with
two feet...once in a blue moon he can manage a microscopic jump but usually he can't get so much as an inch of air and it
irritates him to no end. Jack's physical skills presently (at 52 months of age) are the equivalent to a 24-28 month old.
The gap between he and his peers is unfortunately widening with regard to his gross motor skills but he continues to make
steady progress.
He wears SMO's (braces that go from the ends of his toes to partway up his shins) 4 hours each day in the hopes that
they will help train his gait.
Jack's speech, which has been one of his biggest delays, is progressing by leaps and bounds! He is now able to speak
in 4 and 5 words phrases/sentences. However, due to his low tone, his enunciation is very poor and it is very difficult to
understand him if you're not used to listening to him speak. (Sometimes it's even hard for me and I have to rely on his signs
or he and I need to play 20 questions to figure out what he's saying.) He's working hard with his speech therapist though
(when he's feeling cooperative, that is:)), and we are hearing some improvements.
Even Jack's eating is improving. He was a late eater and has always been averse to any new foods, but is finally
starting to tentatively sample a larger variety of foods and eat a greater amount. But one thing we've
learned is that for every two steps Jack takes forward (in any area of development), he also takes a step back, so we try
not to see his progress as linear or we get disappointed.
As for how Jack will function in the future is anyone's guess. Even if we find out which disorder Jack has, out
of the thousands of disorders that are associated with hypotonia, it's still very difficult to know what the future will bring.
No one expects he'll be "typical" (he was recently catagorized as "multiply handicapped" for educational purposes) but no
one can really guess what his challenges will be either. I used to spend a lot of time thinking of Jack's future and
the possibilities. Now (usually) I find it much easier to just look at where he is today.
But none of this really describes Jack. If I had to describe him in a sentence I would say... He's handsome
and enormously likable, charming and flirtatious, troublesome and mischievous, has never met a rule he didn't want to break,
out-going and loud, raucous and loving, sociable and full of life. He makes me laugh every single day. He's an amazing little
person and I feel indescribably lucky to have him in my life and to have the privilege of loving him.
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Jack
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Getting kissed by a 4-year-old girl....
I swear, James Bond doesn't enjoy as much attention from the girls as this boy does!
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