Hypotonia - Developmental Delays

Hi everyone, my darling little lady Tess is currently 15 months old and at 8 months we took her to Tumbatin Clinic as she wasn't hitting her bubby milestones. No rolling, tummy time, eating solids or weight bearing on her legs. She's been diagnosed with hypotonia (low muscle tone) and severely develomentally delayed and so we started physical therapy.

In those 7 months, by swimming and attending physio, she has learned to sit, move and is now motivated by toys. She is finally eating solids and her little pesonality is coming out. With the exception of the low muscle tone, there is nothing physically wrong with her, although she does seem like a much younger bub than what her real age is.

We are constantly taking her up to the hospital for test after test, because hypotonia is almost always a sympton on some greater syndrome. We've had neurologists, genetecists, eyes, bloods, EEG and the rest, and now they want to do a lumbar puncture to take fluid to run further tests as well an MRI scan for which she will need to be put under.

We've also been told that even after all this probing, we may never get to the bottom of what's causing this!

I am quite worried about teh lumbar puncture and MRI scan part of this. I think she's so litte and I'm just a little nervous about putting her through all of this.

I know we need the answers to help her though.

Has anyone else had similar sorts of tests and were their bubs okay?

Hi,

My daughter has a disability, her current diagnosis is Cerebral palsy, autistic tendencies and intellectual disability, although these are really just 'labels' to access funding. My personal opinion is the diagnosis isnt the be all and end all, it just helps sometimes to get extra funding for things and an idea of what to expect in her future.

My daughter did have an MRI when she was about 2yrs old, it is always horrible watching your baby go under but in our situation I considered it was worth while, it did rule out a few different diagnosis' but It didnt give any answers as to what the problems were, it has been useful down the track to monitor development.
She hasn't had a lumber puncture so not sure about that one.

I do want to say though, it sounds like you and your support team have done wonderful work with implementing the therapy programs and had some wonderful results. I think early education is so important, I wish my daughter was able to get better early therapies to develop her skills.
Of all the people I know in the 'disability world' the kids who seam to gain skills and amaze everyone with achievements not thought possible are those children whose parents have made the most of all therapy programs available and continued programs at home as well as during therapy sessions.

Good luck with everything, you sound like you are doing amazing work with your little girl.

Sj

Thanks so much SJL,

We're already joking with the genetics team that we may have to name what she has 'Tess Syndrome' since she's not fitting into any particular box at the moment! These doctors do love a lable don't they?

We are indeed blessed to have access to so much support and to live so near Randwick and the services here in Sydney. I think we are so lucky to have all of these amazing professionals helping us. It sounds like you have had a similar journey to what we are going through and been able to access good help as well

You've made me feel a lot better about the MRI, I appreciate that. I know it's a necessary evil, but it's definitely hard to commit to.

Thanks again!

Hun, this must be very stressful for you at the moment :hug: My DS has low muscle tone and is also gifted, this is a common thing among gifted kids (so the things that hypotonia go with aren't all bad ;) ). DS1 actually hit all his early physical milestones early - rolling, crawling, walking etc. It was only later that he seemed to be "behind" his aged peers in gross and fine motor skills. The first we knew of the low tone was when he was having a multi-disciplinary assessment to see if he had ASD or ADD. As it turned out it was neither, but was two different things that we really weren't expecting!

We haven't been through an MRI etc, but I wish you all the best with it. I can understand your concerns :hug: I just wanted to let you know that low tone is not always associated with "bad" things, and if there seems to be no fit, maybe you can just go with the flow for now and see what the future holds. Also, we have found things like swimming, bike riding and the trampoline have been really helpful to help bring DS's gross motor skills up a bit. Anything repetitive is good apparently. Kindy gym type things are great too. Low tone, when well managed, doesn't have to be something that holds kids back. With enough work to build up their core strength and endurance, it can be barely noticeable.

All the best hun :hug:

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We're already joking with the genetics team that we may have to name what she has 'Tess Syndrome' since she's not fitting into any particular box at the moment!

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My daughter was labelled as having 'Sarah syndrome' for about a year and a half. So yes that sort of labeling does happen.

Hello,
My lil one who is now 2 went through the same thing although he was never diagnosed with hyptonia.
At the age of 4 months I noticed he wasn't very active and would just lay there like a new born. His doctor had reccomended some testing. It started with a CT Scan which came out normal, then came the MRI, that was done when he was about 7 months . That was very frightning cause they had to put him to sleep. The MRI showed he had some kind of lack of oxygen to his brain either while I was pregnate or while he was being delivered. Isaiah has been diagnosed with CVI (Cortical vision impaiment) which causes developmental delays. Isaiah was hospitialized when he was 10 months old and was diagnosed with phnemonia we stayed in the hosptial for 26 days. He wouln't eat and wasnt getting better. After recovering from that he wasnt eating well and had to go into surgery and place a G tube. Still to this day he doesn't have any interest in eating table foods or babyfood. The docs are concerned cause he hasn't weighed over 17lbs. He has seen a nuerologist, GI specialist, he's done genetics testing, an ear specialist, and an Eye specialist. He has Physical, Occupational, Speech, and Hippo therapy. He finally started crawling at the age of 17 months and now he's walking along furniture. He has Braces (AFO"S) on his legs to help support his legs while standing. He has low muscle tone. No one has been able to give me a reason as to why he is so delayed in development besides the lack of oxygen. My whole pregnancy was normal and no complications during delivery.

Good luck with the MRI and its not as bad as it seems.

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Hi everyone, my darling little lady Tess is currently 15 months old and at 8 months we took her to Tumbatin Clinic as she wasn't hitting her bubby milestones. No rolling, tummy time, eating solids or weight bearing on her legs. She's been diagnosed with hypotonia (low muscle tone) and severely develomentally delayed and so we started physical therapy.

In those 7 months, by swimming and attending physio, she has learned to sit, move and is now motivated by toys. She is finally eating solids and her little pesonality is coming out. With the exception of the low muscle tone, there is nothing physically wrong with her, although she does seem like a much younger bub than what her real age is.

We are constantly taking her up to the hospital for test after test, because hypotonia is almost always a sympton on some greater syndrome. We've had neurologists, genetecists, eyes, bloods, EEG and the rest, and now they want to do a lumbar puncture to take fluid to run further tests as well an MRI scan for which she will need to be put under.

We've also been told that even after all this probing, we may never get to the bottom of what's causing this!

I am quite worried about teh lumbar puncture and MRI scan part of this. I think she's so litte and I'm just a little nervous about putting her through all of this.

I know we need the answers to help her though.

Has anyone else had similar sorts of tests and were their bubs okay?

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Thanks everyone for your feedback. Just as a follow up. We had the MRI which was very stressful and awful (they kept us waiting for 11 hours and we were not allowed to feed her in that time (usually it's only 4 - 5 hours with no food) - a long and horrid story that I still get upset about so don't really want to think about!) but the MRI was clear. So we're just waiting on the genetics team now to see if there is anything they can discover!

Oh no :( I'm sorry the process was so awful and distressing. Hopefully the clear MRI will give the genetics team some insight :hug: