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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

Developmental delay 14 month old

4 replies

Senzan · 26/04/2018 11:32

Hi All,

My 14 month old daughter has only just recently starting to hold her weight on her arms, progress towards crawl position and bum shuffle.
She is very weak and unable to hold her top half up whilst on tummy time. She can’t weight bare, and looks very uncomfortable and cries if we adjust her to be in the standing position. She isn’t able to roll or get from laying to standing.

We have started seeing a Physio and Paed. They are wanting to investigate to see if there is a reason. We have had genetic testing that has come back clear. She scored a 1 on her bayleys test for gross motor.

I’m very concerned... things don’t seem to come natural to her. Waiting more blood results to see where to next..

Anyone been in a similar situation?

Thanks
X

OP posts:
Grumpybearblue · 01/06/2018 10:37

I'm so sorry your experiencing this. Its very hard especially when you don't know the reason why.

My son also has sever development delays. He can roll and sit supported and bear a little weight on his legs and raise up on his arms from his stomach. But that's about it. He's 18 months. He has a neurological problem caused by a genetic default.

What's your daughter development in other areas like. How's her eating and communication, what's she like with toys and playing. Do you feel like she is making slow progress with her physical development or is stagnating?

I can't really offer much advice as I'm not exactly coping well with my lo. But some times it helps to know your not the only one. But I guess just try and focus of what she can do, celebrate the little victories.

greatandpowerfulozma · 13/08/2018 01:38

I know this is an old thread now but I’m in the same boat. My dd is 10 months and can’t crawl or clap or wave or say da da or anything it’s so hard it makes you feel so lonely. How are both your babies doing now?

MumUnderTheMoon · 28/08/2018 18:41

My daughter has very loose muscle tone and was initially diagnosed as having global developmental delay. It turned out that she has 7q11.23 duplication this is extremely rare I had to push for genetic screening and we only got the diagnosis because her geneticist happened to be in a meaning with a man who had first diagnosed it some months earlier. Ask your geneticist if there are any genetic screening programmes currently running which are focussing on rare diagnosis.

kazwelch · 02/02/2019 16:43

Ask about Deciphering Developmental Disorders (DDD) with the doctors. They might find out what all the children have got.

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