Ehlers-Danlos Syndrome (EDS)

[Ohmyfuck]

My four year old daughter has had diarrhoea her entire life. She also has stretchy skin around her arms. She can flex her fingers very high from a flat hand. She has no frenulum under her tongue (which I only noticed on Friday). She has a slight blue band around her eyes (also only noted on Friday). Basically, she has all the signs of EDS. I took her to the doctors on Friday afternoon to demand a genetic test and am now waiting to hear back. It's pretty obvious she has this but apparently, there are 6 types, one of which is life-limiting, the rest which are pretty shit either way. I'm devastated. I don't want to talk to anyone about it because she looks and is growing like a normal little girl and I don't want her to be treated differently. I was sick all day Friday and have had a splitting headache for most of the bank holiday weekend. I literally cannot focus on anything else. I went out with my friends on Saturday night but it was as if there was an invisible wall between us. I feel as if I'm in a dream but I can't wake up. I'm devastated for my poor darling baby and for her siblings too and just for all of us because in a few years it's going to be really shit. I can't stop thinking about it. I can't sleep, I can't eat, I can't focus and I can't discuss it with anyone either. I just keep hugging her and looking at her whilst she's sleeping and crying. I don't know what I want from this post other than to get it out. I can't even talk to my husband because I don't want it to be real. He knows my concerns but I can't talk about everything because I don't want it to be true. I'm so frightened for all our futures. I'm worried about her starting school in case they make her run or do something that could kill her. I don't know what to say to school, I just want her to be normal. My other kids are dancers and runners and it's so normal for them but my little baby won't have that. God. It's like a fucking nightmare. I feel sick with terror.

Hi I have eds. hypermobility type (type 3). so does my dad and sister and my 2 daughters, youngest currently awaiting diagnosis. Do you know about the ehlers Danlos support UK organisation? They are excellent.
Once you have a diagnosis you will have more idea about what she will be living with. We have a garden full of play equipment to help build my girls muscle tone to stabilise their joints. They have a very full and fun life. We don't do afterschool clubs such as ballet or gym simply to avoid them over extending and damaging their ligaments. They won't be doing contact sports like rugby or things like squash and parachute jumps!
Other than that there are very few restrictions. I have had a full time job, 2 children and am fit and healthy. For some people living with eds is a struggle. and generally those are the stories you hear about. However there are also many of us who make slight adaptations to life and we get on just fine.
I hope you get some answers soon. I would be happy to swap emails if you would like some support and hand holding. I have a 7 year old and 4 year old. The school have been brilliant. My girls are an absolute joy and live life to the full. Eds doesn't impact daily on our lifes at all. Sending a very big hug. Not knowing is torturous. So much to take in and so many what ifs. x

Thank you so much for replying. That has calmed me down a bit. Thank you. I haven't heard anything yet from the drs/hospital and am now trying to get the test done through BUPA. I deliberately haven't googled the vascular type but she does have trouble breathing (sleep apnoea/sounds like Darth Vader generally) and also has tiny broken capillaries in her cheeks. She never has much energy and now I'm too frightened to encourage her to run with her friends because I'm scared she's going to pass out or worse. I'm just really hoping to get some answers before she begins school in September. Thank you for replying, I'm very grateful and I have contacted the support group, thanks. I'll be back on here once I have more answers. Xx

Vascular eds is extremely rare and people often have similar facial features. It is one of the forms that can be suspected by sight.
Having eds is tiring generally as the muscles have to work extra hard to keep joints stable so even sitting uses more energy. If she is at pre school sitting stable and holding a pencil will need much more concentrated effort than a Neuro typical child. We live about 20 mins walk from school but I generally drive as the walk and a whole day is just too much.
I am wondering why you posted this on the allergy board? If she also has an allergy then that could explain the Darth vadar breathing. Very common for children with cows milk protein allergy. The broken capillaries could be caused by many things including one of the types of eds. Fragile vessels are common across the types. They are also common in children without!