Diagnosis

Okay, so I’m still in a little shock about what happened yesterday at our OT consult.

It started off like any other therapy appointment.  We were introduced to the Occupational therapist and she started interacting with Jacob.  After 5-10 minutes she said that Jacob was a candidate for OT because he has such low muscle tone that it’s effecting his fine motor development.  The way she said it made it seem benign, so I just asked what we should work on this month.  The next half hour was a little blur and I haven’t made much sense of it until this morning just because of the research that I’ve started to do on HYPOTONIA.

He has been diagnosed with hypotonia, a state of low muscle tone that involves a reduction in muscle strength.  The long-term effects on a child’s development depend on the severity of the muscle weakness.  And, as far as I can see and what they told me, there is no specific treatment for this disorder but physical therapy and occupational therapy can help the child learn to compensate for the neuromuscular disability.  The key word being “compensate”- there being no cure.  I think that’s where she lost me.  I guess I just figured that since we were doing therapy that eventually he’d get better and we’d be done with it, but that’s not the case.  It will be a life-long physical struggle for him.

As I was talking and trying to digest as much information as I could, the OT mentioned something that sparked a memory.  The term “floppy infant syndrome” was used a lot.  It’s a term used to describe a child’s abnormal limpness when he’s supposed to be prone.  Here’s an excerpt that I read that explains things a little better:

Infants who suffer from hypotonia are often described as feeling and appearing as though they are “rag dolls,” a “sack of jello” or a “pillow full of puddin’,” easily slipping through one’s hands. This image demonstrates the  of a hypotonic infant. They are unable to maintain flexed ligaments, and are able to extend them beyond normal lengths. Often, the movement of the head is uncontrollable, not in the sense of spasmodic movement, but chronicataxia. Hypotonic infants often have difficulty feeding, as their mouth muscles cannot maintain a proper suck-swallow pattern, or a good breastfeeding latch.

As I think back to when Jacob was really young and around the time that he should have been sitting up on his own I would constantly hear people refer to him as a little “rag doll.  His body would conform to whoever was holding him instead of maintaining his own frame and posture.  I always chalked it up to the fact that he was a very loving baby, but even then he was showing signs of this disorder and I completely missed the mark.  Something else that struck me was the part about their difficulty to breastfeed properly.  I had to stop nursing earlier than I had planned because he wasn’t receiving enough nourishment and part of that was because his latch wasn’t strong enough.  It was still a big effort when it came to bottle feeding because the latch wasn’t as good there but we were able to manipulate things to help him so much more than when he was on the breast.

Something else we found out, is that hypotonia is not a specific disorder, but an outward manifestation of a different diseases or disorders that is affecting the brain.  I guess it’s straightforward enough to diagnose hypotonia, even when the child is in early infancy, but diagnosing the underlying cause is much more difficult.  So that means we are scheduling an appointment with a neurologist in the next couple of weeks.

All I can seem to say is that I’m glad that conference is coming up.  I’m not able to handle a lot right now and I need a little bit of guidance right now.

***If you want to read more about hypotonia here’s a link for you to follow.  I just can’t write everything that is going through my mind right now, but maybe you can get a better and clearer idea of what we’re going to be facing over the next several years of his life.

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2 Comments

Filed under Brianna, Early Childhood Intervention, Jacob

2 responses to “Diagnosis

  1. Wow, I had no idea that that could even be a possiblilty. I’m so sorry to hear this, but you are doing everything you can and it does seem like he is growing so much. I love the video of him standing. Love ya.

  2. So I am so happy that I randomly decided to check on your blog and see how you are doing because we now have a lot in common! My baby Connor just turned 1 and he was diagnosed with severe hypotonia at around 6 months. He has had a physical therapist almost his whole life. He did not even hold his head up completely until he was about 8-9 months old. And at about 11-12 months he can sit by himself (although he doesn’t know how to go from that to the laying position!). It is funny that I found this because today we go in to meet with his geneticist. He had his first genetic appt about 6 months ago and after lots of bloodwork we found out that his 5 chromosome area 13.2-13.3 (your hubby will probably understand this better than me!) was duplicated. They are not quite sure exactly what this entails only that it has obviously affected his muscles. So today we are hoping for some more answers. Sorry for all the random info, but if your like me it’s a breath of fresh air to know someone else who is going through something similar. It’s hard and I have had my fair share of tears knowing that your child will always tire out faster or have to work harder than most, but I think we are just really lucky that we get these special spirits in our families! Let me know how everything is going on your end…
    Jessica

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