Hypermobility type Ehler's Danlos, talk to me please

[Lizzie in Ma]

Our primary care floated the possibility of this for our youngest.  Chronic neck, shoulder and back pain, and for some time now, her ribs pop out of place, painfully.  Headaches so bad they make her go to bed and are becoming a problem to do her schoolwork.  I know she did the Beignet scale, but I don't recall her score, she is double jointed and hyperflexible.  Her tendons in her wrists can pop in and out of place as well.  Her jaw hurts all the time as well.  She also has Raynaud's.

What do we do next to confirm?  How can I help her?  The hypermobility type is the one they say they can't test genetically for.

Edited February 5, 2016 by Lizzie in Ma

[Junie]

This article looks like it might be helpful to you.  Did the pediatrician not give any guidance?  I think that my next step would be a pediatric cardiologist.  I would also try to figure out if you or your husband might also have it.

 

Disclaimer:  No one in my family has Ehlers-Danlos, but I have a friend who does.  I don't have any real knowledge of the disease, but I know that if it were my child I would have her heart checked.

[Lizzie in Ma]

This article looks like it might be helpful to you.  Did the pediatrician not give any guidance?  I think that my next step would be a pediatric cardiologist.  I would also try to figure out if you or your husband might also have it.

 

Disclaimer:  No one in my family has Ehlers-Danlos, but I have a friend who does.  I don't have any real knowledge of the disease, but I know that if it were my child I would have her heart checked.

 

No, she didn't offer anything.  Which makes me nuts and I have a follow up message into the office sent a week ago with no response as yet.

[Junie]

No, she didn't offer anything.  Which makes me nuts and I have a follow up message into the office sent a week ago with no response as yet.

 

:grouphug: Sorry that the pediatrician isn't being helpful.  Does your insurance require a referral for specialists?  If not, I would find a pediatric cardiologist.  If not, I would call the pediatrician's office frequently.

 

It seems that the type you're talking about is less severe than the others, but I would still want the peace of mind that her heart is not affected.

[J-rap]

I don't know much about it, except that my good friend's daughter had this, and it was worse in middle school/early high school, and slowly improved after that.  She still has some issues but not nearly as bad.

 

My own daughter has bad headaches, a mix of migraines and just chronic daily headaches + Raynaud's.  Migraines and Raynaud's often go together, from what I understand.  Both vascular-related.

 

[TianXiaXueXiao]

I have mild ED hypermobility type. It didn't really show up as problematic until adulthood when I lost a lot of my original muscle tone and core strength from a childhood of gymnastics, track and field, and rock climbing. After hitting age 20 I was having regular flairs of neck pain, frequent headaches, and incredible shoulder pain with thoracic outlet syndrome, tmj, and costochondritis. (In fact, I'm miserable at the moment with bilateral arm and shoulder pain stemming from my thoracic spine being out of alignment.) You do want to check for mitral valve prolapse. You also want to be aware the we don't always respond to anesthesia well. It takes a good 25-40 minutes for me to get numb at the dentist so they have to schedule me extra long time. General anesthesia takes a long time for my intestines and bladder to recover from being asleep. Also I started bruising really easy as an adult. The hot tub leaves red hicky-mark type bruises where the jets were. Backpacks leave the same kind of bruises on my shoulders as does anything that puts prolonged pressure on the skin. Also, adhesions after surgery are a problem to be aware of. We get a lot more than the average person but massage and percussion to break them up seems to help. It's also problematic for digestion: silent GERD is common as the sphincters along the digestive track do not hold up well, so is hiatal hernia and slow motility (I have all of these and so do my kids).

 

You need to get in touch with a specialist as soon as possible. Look up rheumatologists and other connective tissue specialists. ED has a spectrum with mild to severe cases, so you will want to know where your child is.

 

Building and maintaining core strength and joint stability are very important. Proper body alignment and posture are key. Slouching will make matters worse. A good physical therapist will train you and your child how to do exercises and postures which support joint stability and build core strength.

 

Keep us posted on how things go with the doctor. I hope your kiddo feels better soon! (((Hugs)))

[redsquirrel]

I am pretty sure that is what an old friend's child was diagnosed with.  She worked closely with an OT and a PT and had to wear special brace on her hand for writing. It looked like jewelry. That is about all I can remember

 

 

[AngieW in Texas]

It has taken five years for us to get a diagnosis. My 17yo's symptoms started getting really bad at 11yo and just progressively got worst.

 

We had to go to a geneticist for the formal diagnosis.

 

My dd has the hypermobile type of EDS.

 

She has frequent joint dyslocations and chronic pain. Her skin doesn't heal well. She has POTS and dysautonomia, so she is prone to passing out. She can't sweat, so she overheats easily (which leads to passing out).

 

She has a lot of vision issues. We have the appointment with the opthalmologist in March (just got the diagnosis in October). We saw the cardiologist in December and that's all good, fortunately.

 

My dd started another round of physical therapy back in August of 2014 that went on for several months. She was in pretty severe pain and could barely move her right arm because of the pain. Physical therapy combined with massage therapy got her functional again, but she has had constant shoulder pain for 1.5 years and the geneticist said that her shoulder is likely to always be in pain. 

 

She still gets a massage every two weeks. That's just frequent enough to keep her functional. She also works with a personal trainer every Sunday since she finished physical therapy.

[displace]

Next stop should be a geneticist. There are criteria for diagnosis and they can say yes or no or something else.

Edited February 6, 2016 by displace

[Harriet Vane]

My rheumatologist diagnosed me. She manipulated multiple joints in addition to taking an exhaustive case history and checking pressure points. I would suggest talking to a rheumatologist.

[Lizzie in Ma]

It has taken five years for us to get a diagnosis. My 17yo's symptoms started getting really bad at 11yo and just progressively got worst.

 

We had to go to a geneticist for the formal diagnosis.

 

My dd has the hypermobile type of EDS.

 

She has frequent joint dyslocations and chronic pain. Her skin doesn't heal well. She has POTS and dysautonomia, so she is prone to passing out. She can't sweat, so she overheats easily (which leads to passing out).

 

She has a lot of vision issues. We have the appointment with the opthalmologist in March (just got the diagnosis in October). We saw the cardiologist in December and that's all good, fortunately.

 

My dd started another round of physical therapy back in August of 2014 that went on for several months. She was in pretty severe pain and could barely move her right arm because of the pain. Physical therapy combined with massage therapy got her functional again, but she has had constant shoulder pain for 1.5 years and the geneticist said that her shoulder is likely to always be in pain. 

 

She still gets a massage every two weeks. That's just frequent enough to keep her functional. She also works with a personal trainer every Sunday since she finished physical therapy.

I feel so lost again, my heart is breaking.  It took 8 years and hundreds of hours of research to get my oldest a diagnosis with her Lyme disease and co-infections and then two more years to get her the right doctor to help her, and it's been almost 2 years of iv and oral antibiotics so far!

 

And now my youngest feels hopeless because she won her battle with Lyme, because we caught it early on with her and now she is in pain all the time and there seems to be no help for her.  At the risk of sounding childlike, it's just not freaking  fair. 

 

Once again I am in research hell, late last night I was reading articles from the Oxford Journal of Pediatric Rheumatology and the Iranian Journal of Neurology trying to find answers.  Why can't it ever be that someone can tell you, this is what your child has and this is what we do????? 

 

Sorry for the vent, but it's really hard to take all over again with yet another issue no one seems to know jack about let alone get her the help she so clearly needs.

[Tiramisu]

I don't know much about it, except that my good friend's daughter had this, and it was worse in middle school/early high school, and slowly improved after that.  She still has some issues but not nearly as bad.

 

My own daughter has bad headaches, a mix of migraines and just chronic daily headaches + Raynaud's.  Migraines and Raynaud's often go together, from what I understand.  Both vascular-related.

 

Important point here. The vascular stuff goes along with EDS.

 

And people with EDS also tend to have more autoimmune issues of the type associated with Raynaud's, not to mention immune problems related to Mast Cell Activation Disorder.

 

It has taken five years for us to get a diagnosis. My 17yo's symptoms started getting really bad at 11yo and just progressively got worst.

 

We had to go to a geneticist for the formal diagnosis.

 

My dd has the hypermobile type of EDS.

 

She has frequent joint dyslocations and chronic pain. Her skin doesn't heal well. She has POTS and dysautonomia, so she is prone to passing out. She can't sweat, so she overheats easily (which leads to passing out).

 

She has a lot of vision issues. We have the appointment with the opthalmologist in March (just got the diagnosis in October). We saw the cardiologist in December and that's all good, fortunately.

 

My dd started another round of physical therapy back in August of 2014 that went on for several months. She was in pretty severe pain and could barely move her right arm because of the pain. Physical therapy combined with massage therapy got her functional again, but she has had constant shoulder pain for 1.5 years and the geneticist said that her shoulder is likely to always be in pain. 

 

She still gets a massage every two weeks. That's just frequent enough to keep her functional. She also works with a personal trainer every Sunday since she finished physical therapy.

 

Yes. I think you wind up going to all the specialists to rule out heart issues and eye issues and then you're left with physical therapy.

[Tiramisu]

Our primary care floated the possibility of this for our youngest.  Chronic neck, shoulder and back pain, and for some time now, her ribs pop out of place, painfully.  Headaches so bad they make her go to bed and are becoming a problem to do her schoolwork.  I know she did the Beignet scale, but I don't recall her score, she is double jointed and hyperflexible.  Her tendons in her wrists can pop in and out of place as well.  Her jaw hurts all the time as well.  She also has Raynaud's.

What do we do next to confirm?  How can I help her?  The hypermobility type is the one they say they can't test genetically for.

 

Lizzie, we seem to have a lot in common, and I've learned a lot from you over the years.

 

My oldest has all of these issues, except for the headaches. We had the misfortune of going to a geneticist who discounts hypermobile EDS, and that was more than a waste of time. She made us feel so bad, my dd came out of the appointment crying. And with all the medical stuff she's dealt with, I've only seen that once, when it was a possible malignancy. It was that bad.

 

Based on our experience and reading about what others with hypermobile EDS have gone through, I would recommend going to a geneticist who really is knowledgeable about the hypermobile type of EDS. I should have taken that advice when I chose that nasty geneticist that people told me wasn't any good. My dd's rheumatologist recommended Johns Hopkins but perhaps there's someone good in New England. Someone on the EDS Inspire forum might have a suggestion for an EDS specialist near you.

 

After our bad geneticist experience, the rheumatologist gave dd some kind of connective tissue disorder dx, because she says she has a definite connective tissue difference.  She ordered an echo, which was normal, and sent her to aquatic PT. I think she really should be evaluated for POTS, since three of us in the family have related issues, but we are so overwhelmed with the medical stuff. 

 

My second had to have spinal surgery as a child related to lax ligaments. No one has wanted to give her an EDS dx and I haven't taken her to a geneticist. I really get the feeling that doctors don't want to put it on a record unless it's necessary to get help. She has a vasovagal syncope dx and the cardiologist also made of point of telling us her hypermobility was not normal, even though she's really not extremely hypermobile.

 

My second dd is very sporty and I think keeping herself in shape has helped her a lot. But that is not easy for many with hypermobility, like my oldest who is prone to injury because of her unstable ankles. That is why PT is helpful.

 

 

So, yes, the only real recommendation we got for moving forward is PT, after getting the heart and eye stuff cleared, though the risk for those is actually low with the hypermobility type. I would also recommend keeping an eye open for problems with orthostatic intolerance, including POTs and vasovagal syncope. Because of the Reynaud's, you should also have a relationship with a rheumatologist. Perhaps you can find one with a good knowledge of EDS. 

Edited February 6, 2016 by Tiramisu

[fourcatmom]

I am learning a lot about Chiari Malformation and in all the groups that I have joined, they encourage testing for EDS. I have heard also that a geneticist is where you would go to get a diagnosis.

 

We are in the same boat, although not with EDS and it is so hard when you can't get the help you need and the doctor's don't listen. Keep pushing. I have been pushing since October (and really long before that) that something was not right. We have been told so many things and none of them are helpful. One doctor told my dd she was just sensitive and that if she really had headaches then the meds they have prescribed would help her. I finally got a second brain MRI which  helped but it still look months to get her to the right doctor. We finally have an appointment on the 16th to see a neurosurgeon at Stanford (a few hours away from us) that specializes in Chiari. I was told no several times that she didn't need to see a neurosurgeon. I finally found an expert that I could self refer to and I sent all her images and a letter describing her symptoms and what she has gone through. They were able to schedule her within a few weeks of receiving all her info. I will be requesting testing for EDS, POTS and a sleep study.

 

I hope that you are able to get her into the doctor that can help her. It is very frustrating road to walk. :grouphug:

[Redeemed7]

I read through most responses, but don't have time right now to read them all. I believe my husband has EDS (hyper mobility type) but hasn't been formerly diagnosed. I can of came across this while trying to help my husband find a diagnosis for some strange neurological symptoms. He has tingling, pins and needles, in his forehead and has had it for about 7 years now. Doesn't sound horrible, but he assures me that having it in your face almost 24/7 and often vey strongly is often more than he can take. Anyway, over the years we went to different doctors and finally found one that was really willing to listen and explore. He was a neurologist that did different tests. I actually found some info online and threw it past him and he did some exploring and agreed that it is very likely that my husband has EDS. However, there isn't really much that can be done for it according to him or anything else I've found online. Yes, it seems that it's advisable to go to a cardiologist to be checked out. He'd already done this some years back because his regular doctor advised it because he wanted a murmur checked out.

 

Anyway, from what I've figured out that if we'd wanted a definite diagnosis, then we'd see a geneticist. Most likely at a children's hospital because they deal with most of these things. Your daughter would go there anyway, but I added that for other readers that might be adults. I've seen where a lot of EDS patients go to rheumatologists, but I'm not really sure why unless some are just more trained in EDS issues. I'm not sure what kind of treatment they can perform or supply. However, I may be highly misinformed on that issue. If someone could enlighten me and tell me how their rheumatologist is treating their EDS, then I'd love to hear it. Basically, it appears to me that you just treat the symptoms. My dh's neurologist increased the medicine he had previously been prescribed and that has lessened the severity of his symptoms, so I'm wondering what more a rheumatologist could do.

 

Not sure if I've added anything, but I agree with another poster that you should see an geneticist and then they will tell you where to go from there.