Advice regarding my daughters physical development issues

(4 Posts)
jamesuk Fri 08-Feb-19 21:25:17

Hi, just wanted some advice on my daughter who is now 15 months old, me and my partner just don’t know if we should be worried or not.

Her current symptoms are:

Physical development delay.
Low muscle tone in legs.
Some hyper mobility
Slight tremor during some movement
Eye movements not always smooth when focusing / looking around.

She has always been behind when it comes to physical development, she only started sitting at around 9 months and even then needed a lot of support due to falling after a while and not really trying to save her. We still have cushions around her a lot as even though she is much better she still falls sometimes even now.

She has been under physio for a few months now and we have exercises to help her core muscles, she does appear to be getting a little better and keeping herself up but still won’t really do anything else.

She has never really rolled over fully, when she tries to roll from her back to stomach she end up in a L position with her legs right out, this means when she tried to roll her legs always stop her going over. She tends to have less power if on her stomach so doesn’t really roll back over onto her back.

She has never crawled while on her stomach and finds it pretty hard to push herself up to try so often gives up quick.

If we try to stand her up she will sometimes take weight but also often just bends her legs into a kneeling position and gives up, we sometimes stand her up again something like the sofa and she seems to be a little better at this but also seems to just be leaning against it.

She tends not to like the exercises we got from the physio and often tenses up while doing them, one she does do pretty well is sitting on a small step and reaching fot toys that are places a bit away from her.

She is under a paediatrician, who has seen her a couple of times, they run a genetic blood test which looks for bigger more obvious mutations but that come back normal, they mentioned another genetic test called the 100,000 genome project but this is no longer funded, this looks at things in more depth.

The paediatrician said she does think something is holding her and is probably genetic, but is very hard to pin point what it is and from her viewpoint there’s not a lot more she can do.

For now we are carrying on the physio and she is referring our girl to neurology and ophthalmology to see if they can offer in regards to her issues.

Its left us feeling a bit lost though, we aren’t sure if something is wrong or if it still may just be nothing and that she is just being lazy. It feels like they are basically saying she does have a problem but we just don’t know what it is yet or if its something that will hold her back long term.

I should point out that she seems to be doing perfectly fine when it comes to other milestones such as speech and things like communication etc.. she babbles away all the time and says certain words, she loves music and is generally very happy.

Is there anything anyone would recommend or any advice?

Thanks,

Jim.

OP’s posts: |
spinabifidamom Sat 09-Feb-19 01:01:36

My youngest two are physically disabled. With DS I started noticing it when he was about six months old. He does physical therapy 2x a week. When DS and DD were babies I had someone come to my house to do a evaluation and then services started. Call the 0-19 team for your area, they should do a assessment prior to starting therapy sessions. Perhaps you should also seek advice from a specialist as well.
Just in case.

MumUnderTheMoon Sun 10-Feb-19 12:08:43

Have you spoken to a geneticist directly or just the paediatrician? My dd has a very rare syndrome and her geneticist is invaluable. They could let you know if you could pay for private assessments or let you know about upcoming screenings which they could enter your dds samples into. How is her speech? What about her physical features is there anything that would give the geneticist a starting point? Some syndromes have very subtle indicators eg children with my dds syndrome have straight eyebrows, a short philtrum and thicker than usual earlobes.

Allusernamestakenbutthis Sun 10-Feb-19 14:11:04

Be cautious but don't panic and please make sure to look after yourselves.

My son was also a late developer with low muscle tone etc but nobody thought anything of it until he started having problems age 7. He had loads of tests and in the end he had a treatable condition and is doing just fine. But tbh the medics did not find this, and he was helped by an osteopath. It's great you have people taking you seriously.

Does your daughter have a flat patch anywhere on her head? Also note if her vision is not right it may impact your daughter's balance...

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