Advanced search

Mumsnetters aren't necessarily qualified to help if your child is unwell. If you have any serious medical concerns, we would urge you to consult your GP.

Hyper mobility and genetic testing.

(2 Posts)
MakkaPakkastolemystone Sun 23-Nov-14 22:22:17

Sorry this might be long and I'm torturing myself with "what ifs". My DS is 2 years and 4 months old. He rolled, sat, walked and ran according to the expected milestones. He's never squatted though and can only get up from the floor if he pulls himself up on something. My HV and I have been keeping an eye on this, and as the milestone for climbing stairs came and went with him not able to get up or down stairs or steps, we were referred to the community paed.

We had that consultation last week. I honestly thought we would be referred for Physio as he was a bit stiff, and we have been. However she thinks he is hypermobile at least in his knees and ankles and probably I'm his upper body and fingers. She disagreed with our HV assessment of his fine motor skills and that his fingers show ataxic movements. She called us back after the consultation to make sure we understood that ataxic was descriptive of disorganised movement and not a diagnosis of ataxia.

She has also referred us for blood tests for muscle strength and to check his liver and kidneys.

As we were leaving she said as she was taking blood anyway she wanted to do genetic tests as he had also had severe reflux which he's grown out of.

I know it's no excuse but we were so focused in corralling a tired 2 year old that I forgot to ask what they were looking for.

I have a friend who is hyper mobile and has Ehler dahnlos, and had good advice from her about that but another GP friend suggested they might be looking for a dystrophy.

Has anyone gone through testing for a syndrome that has symptoms of hypermobility that has gone through this who could help throw some light before I make an appointment with my GP. I've left a message for the paed but her secretary told me she's now on leave for a fortnight and I'm driving myself pretty insane thinking the worst.

Owllady Mon 24-Nov-14 21:04:22

Yes, we have. I'm hypermobile but my daughter was at that age too (still is)
If he's meeting all his milestones I would try not to worry as they can be over cautious, but also bear in mind if it is anything else syndromic, which statistically is unlikely, it's best to know so the condition can be managed.
You could ask in the sn section, I'm sure there are people a lot more knowledgeable than me smile (statistically unlikely wink )

Join the discussion

Registering is free, easy, and means you can join in the discussion, watch threads, get discounts, win prizes and lots more.

Register now »

Already registered? Log in with: