Dd's unexpected dx today: Hypermobility type EDS

[Element]

We finally met with the geneticist today. Dh has a rare genetic thing with physical malformations and missing bones. While we knew dd didn't have exactly that, we have always wondered if here other issues could be genetic. They went ahead and did a CMA test and we will know the results in a couple of weeks.

 

The geneticist, however, said he doesn't think anything is going to come up on the CMA because he thinks she probably has Hypermobility type Ehlers-Danlos. He is sending us to some kind of therapist for her legs to see if braces might help her and also to a opthomologist to check her lenses for subluxation.

 

I am just kind of confused right now. I don't think he officially diagnosed her, he just said she "probably" has EDS and made the referrals. Dh was there with me and even he doesn't know whether or not this counts as an official dx. I called him back this afternoon and asked him if he had officially dx'd her and he said he "didn't have any reason to think she had any cardiovascular problems," didn't have enough information to dx her, but that she "probably has" EDS and the bone and eye specialist will be able to tell me if she has any further problems with it. I asked if one of those doctors would dx her and he said, "no." He said (unless the CMA comes back showing some other genetic issue) there is no reason to schedule a follow-up with him, and the other doctors would be able to help dd with any issues related to EDS.

 

I am so confused. :confused:

 

He is a geneticist, so wouldn't he be the one to give a dx? Was that a dx? It certainly would explain a lot but I don't want to tell dd's future doctors that she was dx'd with EDS if she wasn't officially dx'd. From what I've read online, I don't think EDS is anything life-threatening (since he doesn't think she has the vascular type) but I don't really know which medical specialist I'm supposed to talk to about it.

 

I'm sorry. I'm sure this post makes no sense at all. The whole hour-long appointment made no sense at all, and I even had dh with me.

 

So, is anyone familiar with Ehlers-Danlos Syndrome?

Is there any way to tell whether or not the geneticist did actually dx her today with EDS?

What are leg braces? Are these the old-style metal things or just some kind of strapped on stabilizing thing?

Is there anything else I need to know/think about/do?

[JVA]

I can respond to 2 of your questions regarding braces.

Today, they are usually made of durable plastic, custom molded to the individual. Our son, who has arthrogryposis, has had them since he was about a year old- after his corrective surgeries for clubfeet. He is now 15. They are light weight, can have a hinge at the ankle and the kids can choose colors and straps .

This is the company that orthotists around here (VA) have make them:

http://www.cascadeorthotics.com/html/afo-ankle-foot-orthosis.html

[Reeciecup]

My dh has this, and he has had a lot of different braces, but he doesn't wear them all the time. His issues are mostly with his knees, although he has shoulder trouble as well.

 

One strange effect is that novacaine doesn't work well on him, and it takes a lot of numbing for him to get dental work. They said this was caused by danlos.

[Element]

Thank you both for your replies. Those braces look a lot more comfortable than the old ones of the 1970s and 80s! Also, the Novocaine information might come in handy someday. She has never had to be numbed for any dental work so it's definitely good to know that it could be an issue in the future.

[Dobela]

The therapists here call those braces AFOs - ankle foot orthotics. My dd has worn them at different times. The hardest part for me was finding shoes to wear over them as they can widen the foot considerably.

 

Not all people with EDS wear braces. The granddaughter of a friend no longer needs them although she still takes lots of dance, gymnastics, and did take lots of PT and OT to build up her strength to prevent hyper-extension. Because EDS effects all connective areas, including those around body organs and she has had to have special considerations whenever she has needed surgery for her digestion issues.

[Tiramisu]

Well, I have a friend who is going through this right now. When their pediatrician--after lots of testing to exclude other problems--suggested EDS, they weren't sure what to do and asked for my help. I contacted a doctor who sometimes deals with issues related to connective tissue disorders who told me the first step would be to go to a geneticist to get a definitive diagnosis and after that go to an orthopedist. So I'm really surprised your geneticist wasn't more helpful. Doesn't the gene testing pick up the type that he thinks your son has?

 

My dd has an issue that can go along with connective tissue disorders. She has limited hypermobility and developed a spine disorder. I don't know if we have enough reason to go forward with genetic testing, but our pediatrician suggested the possibility of getting an echocardogram to rule out vascular issues.

[sbgrace]

I don't believe they can always definitively diagnose EDS. But I *think* they often can (my son does not have this but it was investigated). I don't know why your geneticist didn't do any tests to try to get a firm diagnosis for you. Maybe he thought it wouldn't matter because treatment wouldn't change and this way she doesn't have a medical diagnosis following her? I don't know. In my experience genetics doctors are unique--sometimes for better rather than worse--and your experience sounds like things I've experienced. It doesn't surprise me but I'd be frustrated by that appointment.

[Tammi K]

We finally met with the geneticist today. Dh has a rare genetic thing with physical malformations and missing bones. While we knew dd didn't have exactly that, we have always wondered if here other issues could be genetic. They went ahead and did a CMA test and we will know the results in a couple of weeks.

 

The geneticist, however, said he doesn't think anything is going to come up on the CMA because he thinks she probably has Hypermobility type Ehlers-Danlos. He is sending us to some kind of therapist for her legs to see if braces might help her and also to a opthomologist to check her lenses for subluxation.

 

I am just kind of confused right now. I don't think he officially diagnosed her, he just said she "probably" has EDS and made the referrals. Dh was there with me and even he doesn't know whether or not this counts as an official dx. I called him back this afternoon and asked him if he had officially dx'd her and he said he "didn't have any reason to think she had any cardiovascular problems," didn't have enough information to dx her, but that she "probably has" EDS and the bone and eye specialist will be able to tell me if she has any further problems with it. I asked if one of those doctors would dx her and he said, "no." He said (unless the CMA comes back showing some other genetic issue) there is no reason to schedule a follow-up with him, and the other doctors would be able to help dd with any issues related to EDS.

 

I am so confused. :confused:

 

He is a geneticist, so wouldn't he be the one to give a dx? Was that a dx? It certainly would explain a lot but I don't want to tell dd's future doctors that she was dx'd with EDS if she wasn't officially dx'd. From what I've read online, I don't think EDS is anything life-threatening (since he doesn't think she has the vascular type) but I don't really know which medical specialist I'm supposed to talk to about it.

 

I'm sorry. I'm sure this post makes no sense at all. The whole hour-long appointment made no sense at all, and I even had dh with me.

 

So, is anyone familiar with Ehlers-Danlos Syndrome?

Is there any way to tell whether or not the geneticist did actually dx her today with EDS?

What are leg braces? Are these the old-style metal things or just some kind of strapped on stabilizing thing?

Is there anything else I need to know/think about/do?

 

Just a thought here, so ignore me if I don't make any sense ;)

Could it be that he is thinking EDS type 3 for which there is no specific test. It is a diagnosis of exclusion unlike EDS 1 for which gene testing can be done. Therefore, if it isn't something else it's probably EDS. So, unless something DOES come he's going with EDS. But, he has reserved the right to change the diagnosis (by not saying flat out) and therefore prevent a 'misdiagnosis' before the other test comes back.

 

Just a thought....

[spaceman]

It sounds like he was using it as an umbrella term for her symptoms. I'd be fairly annoyed at that from a geneticist as well.

 

An orthopedic surgeon told me I have a 'connective tissue disorder', and-for me-it's never gotten more specific than that. He based his decision primarily on a Beighton score of 9.

 

Having a more specific diagnosis might get more notice by future doctors of all kinds. My vague description is overlooked all the time.

 

I also have many braces. Like a previous poster's dh, I do not wear them all the time. When I got my first brace as a preteen, I wore it for 2 years. As an adult, I wear them only as needed, usually for just a few days. The catch with the braces (for me, at least) is that wearing them too long will degrade the strength of the joint. But, sometimes not wearing one when you need it can make a more severe injury. It's hard to balance.

 

Other things to be aware of (you probably already are):

-local anesthesia was already mentioned

-early onset osteoarthritis is more likely (I got dx'd in my early 20s)

-since she's female: rapid labor & birth and/or difficulty carrying to term are things to be aware of

 

My TMJ pain is what causes me the most trouble by far. It's the most frequently used joint in the body, so it'll go first. I highly reccommend getting a dental guard, unless her hypermobility is not widespread. An orthodontist told me at 16 that I should never eat hard food again (hard, as in anything harder than mashed potatoes). That was how degraded my jaw was already at 16. I do still eat food I have to chew and arrogantly didn't take his advice, but care there probably would have saved me a lot of pain now.

 

It's highly important for hypermobile people to be very physically fit, and to work hard at strengthening their muscles and core strength. Her muscles will need to work harder than those of other people. And on the flip side, it can also sometimes be difficult to properly relax them, so baths and self-massage techniques can be really useful. Putting a lot of effort into that now could really save her a lot of pain in years to come.

 

I wish you well.

[Element]

Thanks for the helpful responses. I really appreciate hearing your stories of similar issues with your dc!

 

I don't believe they can always definitively diagnose EDS. But I *think* they often can (my son does not have this but it was investigated).

 

. So I'm really surprised your geneticist wasn't more helpful. Doesn't the gene testing pick up the type that he thinks your son has?

 

He said there is no genetic test to determine that she has EDS, but he did do the CMA to rule out other things. We will know the results of that test in about 2 or 3 weeks. He listened to her heart and determined that she likely did not have the vascular type EDS which can cause serious health issues. I DO understand if maybe he didn't want to officially dx her since it would be a dx that sticks with her all her life, and he said there is no known cure or treatments. I assumed he was dx'ing her because of the referrals/recommendations he gave us regarding the other specialists, but he confused me by repeatedly saying "she probably has.." He was very nice, but I felt pretty confused by the time we walked out of there.

 

This is a shiny, new children's hospital and everything is put into a database for all the child's doctors to see. I think I'm just going to wait a couple of weeks and call dd's ped to see if he can look in her files and interpret the geneticist's report for me.

[BatmansWife]

I'm sorry that I can't help you with any of this; I never heard of it before. But, I'm just sending you lots and lots of :grouphug:.

[Element]

Just a thought here, so ignore me if I don't make any sense ;)

Could it be that he is thinking EDS type 3 for which there is no specific test. It is a diagnosis of exclusion unlike EDS 1 for which gene testing can be done. Therefore, if it isn't something else it's probably EDS. So, unless something DOES come he's going with EDS. But, he has reserved the right to change the diagnosis (by not saying flat out) and therefore prevent a 'misdiagnosis' before the other test comes back.

 

That's a great guess. It makes perfect sense (and, yes, he was talking about type III.)

 

It sounds like he was using it as an umbrella term for her symptoms. I'd be fairly annoyed at that from a geneticist as well.

 

 

Thank you so, so very much for your response. I really appreciate hearing how this has affected your life. It sounds kind of like I will just have to be on the lookout for the issues you mentioned, and be dd's advocate until she is old enough to advocate for herself. I am so sorry about the pain you have had and I can't imagine the frustration when trying to describe your issues to doctors without having a more specific diagnosis. Again, thank you for sharing.

[Element]

Not all people with EDS wear braces. The granddaughter of a friend no longer needs them although she still takes lots of dance, gymnastics, and did take lots of PT and OT to build up her strength to prevent hyper-extension. Because EDS effects all connective areas, including those around body organs and she has had to have special considerations whenever she has needed surgery for her digestion issues.

 

 

Yeah, I definitely think dd needs something to help her strengthen her muscles. One of my concerns is that she is 7 yrs old, 4 feet tall, and still has a hard time opening heavy doors. She has done several athletic things in the past (dance, gymnastics, soccer, swim) and she is just miserable because she can't keep up with anything. I don't even know what to do with her in that regard. Luckily, one of the doctors the geneticist referred us to is some kind of therapist (developmental? occupational? I don't remember what he said. It was the doctor that is going to see if leg braces will help her) that should be able to answer my questions about increasing her strength.