DD diagnosed with hypermobility and possible Ehlers-Danlos syndrome - any experience?

[MadameJosephine]

Took 16 month old DD to her paed appointment yesterday. She was referred by the GP as she has been consistently late meeting all her gross motor milestones - rolled at 9 months, sat unsupported at 12 months, crawled at 14 months and still not pulling up or even bearing any weight on her legs. She is fine in all other areas, very happy little girl, a proper little chatterbox, very sociable. I am slightly hypermobile so I was expecting them to say that she was probably hypermobile and to refer her for physio, which they have done. However, the doctor said she was actually extremely hypermobile - he bent her foot up so the toes almost met her shin for example - and when he checked her skin it was very stretchy. She also has a few bruises on her shins which I just attributed to learning to crawl on a wooden floor but he said that stretchy skin and easily bruising alongside the extremely flexible joints could be signs of Ehlers Danlos syndrome so he has also referred us to genetics. We should get an appointment in about 6 weeks.

Does anybody have any advice/experience? Does this sound like EDS to you or just a very cautious doctor? I'm trying to err on the side of the latter but that might be me trying to bury my head in the sand

Hello I think you're right to be cautious about diagnosis of EDS as she's still very young, but if it's confirmed at such a young age that can only be a good thing as she'll hopefully get the right support early on.

My DD was late with all her gross motor milestones, she sat at 12 months, and didn't ever pull to stand, she never crawled and finally stood at 24 months but only if we lifted her into position. She is almost 7 yrs now and still behind her peers, but could walk, run and jump from 5 yrs.

She is also super bendy in most of joints, her ankles are the worst, but her wrists, elbows and hips are also very flexible. She also bruises easily, suffers from very bad constipation which doctors said is due to bowel muscles not working well.

We've had all kinds of opinions over the years but still don't really know what is going on. We've seen genetic doctors as she also has a genetic hearing loss. She wasn't tested for EDS but it has been suggested.

We've found physio to be helpful and she has worn shoes and foot supports provided by orthotics since she was 2.5 yrs, they helped her learn to walk, I don't think her ankles would have supported her without the orthotics.

Try not to worry about her being behind, I thought my daughter would never walk let alone run but she's made steady progress as she's got older, she does still get much more tired than others which is something to be aware of for your little girl.

Hope that's helpful x

Thanks for your reply mummy2bears I am reassured that with the proper support she should eventually catch up with her peers, it's sad when she's sitting watching other kids running around so anything that can help is great and the sooner the better.

It doesn't help that when I told my mum what the paed had said she immediately passed the news onto family members and this led to me getting messages saying how sorry they were to hear she may have EDS before it had even properly sunk in

Yes I remember watching my daughter watch others, when she was 2.5 yrs I was at play group lifting her on and off the slide as she couldn't do steps and someone said " you should let her do it herself" which really upset me.
BUT there is an upside despite her deafness my daughter had incredible speech and language very early and was much more articulate than her peers as she learnt to ask for what she wanted rather than fetch it. I spent hours reading to her and she now adores us reading and is ahead in this at school. Sounds like your daughter will be the same.

Last year on my daughters 6 th birthday doctors told us they thought she had mild muscular dystrophy, I was devastated and didn't tell anyone as I couldn't take it in, then they changed their minds 6 weeks later! Be prepared for ups and downs on the way to diagnosis.

I paediatrician said to me to always play to your child's strengths, encourage what they are good at an don't worry about the things they are behind in, that way you'll build their self esteem.
My daughter struggles with some aspects of school due to her joints and deafness but she loves to read and find out information so we concentrate on that and try not to focus on her always being last at sports.

Stay positive xxxxxx

Thanks again mummy2bears. I'm staying positive, shes bright as a button and actually ahead of a lot of her other milestones, she has loads of words and is already osessed with books so I think she's going to be an avid reader just like me and her big brother. We were always last in sports too so she wont be any different lol. Your DD sounds fab, im sure shes not going to let anything hold her back

My ds2 is 22 1/2 months and is also very hypermobile. For the past month he's been able to walk if you hold both his hands but even then he still falls over a lot.

He has piedro boots which have helped but he still has a long way to go. EDS has been mentioned before but we haven't seen genetics. Our paediatrician is adopting a wait and see approach, it's good your dd is being referred so young.

Just to add, ds2 didn't weight bear at all until about 19 months, I know how worrying it is when you see what their peers can do. Hopefully your dd will get a good physiotherapist and orthotist as they make all the difference.

Thanks hugandroll it's nice to know there are other people going through the same worries. In 'real life' it feels like everybody else's children are charging about the place and mine is the only one left behind

I've got mixed feelings about the genetics referral, I'm sure you are right though, if she has got EDS it's better we know sooner so we can give her the help she needs but I'm hoping all it's going to take is some physio and a pair of cute little boots

Never give up hope. My son took his first, very wobbly, made him fall over, unaided step today. I'm so proud of him. Your baby will get there x

Hurrah! Well done hugandroll junior!
Congratulations

Just thought I'd post a quick update. Had our genetics appointment today and we left with a diagnosis of ehlers danlos for DD and also for me! She had her first physio session and has her first pair of piedro boots and we've both been referred for heart scans