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SN undiagnosed genetic conditions

Hypotonia - Physio?

5 replies

Clg86 · 26/05/2019 04:10

My 15 month old has hypotonia and we still don't know what the underlying cause is.
To brief you on him, he was full term but came out with the cord around his neck but was brought round after a brew breaths.
He had trouble from day 1 latching on and feeding from me and he's now below the 0.4th on the centile graph.
He cannot hold his head for very long, doesn't roll/sit and his arms are so weak that tummy time is spent with him face planting the floor.
We have a physio who comes to see him maybe every 6 - 8 weeks but I feel there is more we can be doing for him.
Physio says that we're doing everything that we can for now, but I can't help feeling like we could be doing more.
Is it worth looking into private physio?
Does anybody have any exercises they can recommend?

He's had MRI scans, EEGs and every blood test available but everything comes back clear.
Genetics have just got involved but they're having to have a stab in the dark because there's nothing obviously wrong with him.
He's in total proportion and really healthy looking, for a 6 month-old...but he's 15 months.

Anybody else been in a similar situation?

OP posts:
LiliesAndChocolate · 26/05/2019 04:55

I have a genetic disorder called Nf1 and one of its manifestations is hypotonia. The current recommendation is to give a L-carnitine as supplements as clinical trials have proven improvement. Talk to your GP about supplementing. A physio every 6-8 weeks is certainly insufficient. Film the physio session and repeat the exercises with your son on your own.
Even if your son doesn't have NF1 , research a bit hypotonia and carne tine
www.inspire.com/groups/neurofibromatosis-network/discussion/l-carnitin-9xwn2g/

Have a look at those videos www.youtube.com/channel/UC92IEyS9B4SJus40LWwBjeg she has a lot of video for hypotonia in babies and toddler

lag4154 · 12/06/2019 01:23

Hi there,

We are in a very similar situation. My son is 10.5 months old and has hypotonia. My pregnancy and delivery were completely normal but around 2 weeks old we started noticing something was not right. It sounds like his motor skills are most exactly the same as your son's- he can only hold his head up for moments at a time. Otherwise no rolling, sitting, etc. He has finally started tolerating tummy time but also just lays flat.
I am in the US and we are getting therapy services through early intervention. He has been getting weekly physical and occupational therapy since 6 months. We have noticed slight improvements with the therapy- one being that we now get some head lifting attempts while on tummy time. Even with the twice weekly therapy sessions we still work on therapy exercises for at least an hour every day at home. I think this is crucial to helping him develop skills as he clearly is not going to on his own and think you should definitely try to increase your son's therapy if you have the choice.

We have had a lot of genetics testing done but still no answers yet. He had whole exome sequencing done a month ago (takes 3-4 months for results) and we were told this is really the last option to give us a diagnosis.
I just wanted to share that you are not alone, it can be so difficult to watch your baby struggle but the best thing you can do for him right now is probably to increase therapy. Even though my son has not progressed as quickly as we would have liked I can say 100% that the improvements we have seen are because of the amount we are working with him and his exercises.
Please feel free to reach out if you think there is anything else I can help with.

miasmummytobe · 11/12/2019 10:20

I could have written this! My daughter is 2 1/2 and has hypotonia and severe global development delay. We have physio every 6-8 weeks but the idea is they teach you what you should be doing and you practice daily as they can’t provide that sort of care as often as it’s needed. We have the same for speech therapy. We have had basic genetics testing but nothing of note and we are awaiting an mri scan but I’m not hopeful 😔

Tilly09 · 04/02/2020 19:34

Hi. Can I please ask how you got a diagnosis for that? My girls 7 month now but since newborn she is slightly bendy and floppy she had a head lag I thought but has hugely improved now. HV just brushed it aside and said she could just be a delayed learner. My girl too had cord round her neck. There’s something I can’t put my finger on about her. We are undergoing a private mri too because nhs won’t fund unless HV refers and waiting list is long. I have found this to be helpful;
Search Movement Lessons for Parents and Practitioners on Facebook. A lovely lady Michelle is the founder and she will help you. Some bits are free but obviously payment for courses. But honestly the intervention works wonders. Have a follow and see what you think. Take care

Tasmintamanna · 19/12/2023 21:40

Hi how is your son now I want to know my son have same problem

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