On the 8th of May, we saw a neurologist who runs an autonomic lab in Montreal. After 3 hours of testing, including among other things a tilt table test, we were told my youngest daughter has:
1) Orthostatic intolerance (OI) – which has been left as is for way too long as she is now “severally deconditioned” as he put it – unless we act now, her state will worsen. At this point she can barely walk ten meters without sitting and that is on a good day. There have been a few days lately where she can’t even get out of bed to use the toilet – it is very scary to me and there are no words to describe how she must feel.
2) The OI results from a “connective tissue disorder” – the type needs to be confirmed by a geneticist because my daughter insists for an official diagnosis – the doctor was floored by the tricks she could do with her toes.
3) Intracranial hypotension – the headaches are relieved when she lies down but are otherwise constant (I had no clue since she rarely complains about anything). I am wondering now whether the pressure from the back flow is not the cause of her panic attacks. If there is any level of pressure on the amygdala, also known as the brain’s center of emotions, this could be the case (such as in Chiari malformation). I remember looking at her brain MRI results not too long ago wondering if she didn’t have that problem but it was negative. Then again, if my daughter’s multiple endocrine disorders are related to a collagen disorder, abnormal functioning of the amygdala would also be plausible (my own reference here). Here’s an interesting article on intracranial hypotension.
4) Her aldosterone is high (three to four times the upper normal limit) because her body is crying out for “more blood” is how he put it. I have been told by other doctors that her aldosterone levels are considered normal because the adosterone/renin ratio was normal (what????).
Her treatment for now:
A recumbent bike for exercise, physiotherapy for reinforcing her ligaments, rower (anything where she doesn’t have to stand for now)
3 liters of water a day
Salt tablets for loss of sodium
Additional drug treatment to help with the arteries (to be determined)
When I told our family physician about the diagnosis, she was relieved yet upset that it had been such a long process to prove what she had determined from the start in her own office. She insists my daughter be seen by a connective tissue disorder specialist so that she can be diagnosed for it and cared for the appropriate way. She also believes her multiple endocrine disorders are related to the connective tissue disorder. I totally agree with that as connective tissue is the matrix within which cells are supported and communicate. What is there not to understand?
Today I emailed the lab asking if the neurologist would be willing to refer my daughter to a geneticist in Montreal who is apparently well-known for EDS. This doctor came highly recommended by a parent from Montreal whose daughters were diagnosed there years ago – thanks to Facebook.
It will be a week since my daughter was told it was not all in her head. These few words had an amazing effect on her. Her mood has changed considerably and her willpower seems to have escalated to a new level.
I am so very grateful for this new development and hope that more will be coming our way in the near future so that we can get on with our lives.
Hooray for the 8th.
Sheep in a basket 
Oh this made me so very, very happy! So happy for your daughter. So happy for you. And so happy that mom does know. Oh how mom does know! I can imagine how the news did elevate your daughter’s mood. She has been validated rather than harshly judged as she has been in the past. Oh, again, this is just such happy news. I am so very glad you posted!!! 🙂
Thank you so much! I can’t wait to receive the report. Just hoping everything he said will be in there. And now I feel like telling all the doctors who saw her “told you so!” 🙂 I know we’ll have more difficult moment but this is a huge step. What an amazing feeling!!!
So glad to hear that you and your daughter got some affirmation and answers – such a long struggle for you both. Here’s hoping the road to recovery and management allows you room for happier times.
Yes, and the older sister is not feeling well at all and appears to be walking in her younger sister’s footsteps. Maybe this will also mean an answer for her too. Thank you for the kind wishes. 🙂
OMG–I know I got a hint about this, but your post never came to my inbox?!?! I only follow my original friends on here, too! So sorry for the delay and glad I found this! Well, as you know, I am so elated for both of you to finally get the majority of the Dx. Finally, a good doctor who cared to THINK! I actually have one eye doc like that–saw him today and feel so much better due to him explaining things and caring. I know exactly how you and your daughter feel as this was my story (just with the stupid misdiagnosis). I bet a huge weight has been lifted off your shoulders. Go buy a cake! It’s almost as obvious as my case–connect the dots doctors!!!
I have heard of all of this w/EDS–if it is EDS–the OI and the CSF leak causing the IH. The odd thing is the article you linked said it shows up in my type (EDS Type II), which wouldn’t explain the super-hypermobility. Hmmm. Well, the geneticist will zero in on that. Even the preliminary treatment sounds positive! Oh, I’m just so happy and I know your daughter’s emotional state must be so much better–it’s like she went to the Disease Swap Meet! I bet that little by little she can do PT, too. That’s how I started it and she can do a lot of isometric exercises laying down, which is perfect for her. I do that in PT just b/c I can get spots in my back better laying down. I’m so glad you went to Montreal (I’ve been there if you recall!) as I know they must have good docs and there you go–a diagnosis at last. I wonder if the medical school(s) there are more French-based (way better). Can’t wait for future posts that will hopefully come to my inbox–can’t figure out what happened? Hit me up on my blog if I don’t comment withing 48 hrs–sometimes my schedule throws things off by a day. Apologies again! Go, Sheep–Super Mom saved the day!
A ❤
Geez A, you sound as excited as we did. 😉 For three days we were both walking on clouds. It also feels like 7 years of brick load have been lifted off my shoulders! And yes, I also thought of you when I read the article. It’s good to share them – I know my doc really appreciates it when I bring her additional information. I think there are a lot of overlapping issues between the types. Furthermore, connective tissue seems to be affected differently from what they say so maybe hypermobility varies. But then again I read this quickly and would have to dig into it to make sense out of it.
French (from France!) doctors are great – not blindfolded. However, we were seen at the Jewish General Hospital which is part of the McGill University health care centers. So we had an amazing Jewish doctor! There are two major health Universities there. The other is U of Montreal but I had checked with researchers I had worked with and no one knew anything about EDS. The one doctor we could have referred her to (French guy) told us to go to the Jewish with Dr. S as he was the expert for complex cases (so happy the other guy was so professional). There are only three such experts in Canada (from what I read) and these two guys were on the list.
I’m so happy you spoke with a “super” doctor yesterday. 🙂 Every time I read you I know exactly how you feel. There is nothing worse than feeling pushed to the side when things are so bad.
My daughter’s mood is way up there. She even put a photo of herself on facebook. 🙂 Normally she’s in hiding – hiding from her own self. Although I completely understand her it is so difficult for me as a mother because I so want to help her through this and there seems to be walls standing all over.
BUT, two evenings ago, she sat next to me on the couch and said “I don’t need an EDS diagnosis anymore… I know I’m a type III”. I thought it was huge of her to fill her own shoes like that – that means she will fight (although it may sound contradictory, I know she meant she doesn’t need anyone but herself to confirm that). All the power to Genny!
So great to read this and about Genny–she really did get to got the swap meet (diagnosis booth). That’s what is bringing closure for her–I just know it. So happy! Well, of course it was a Jewish doctor! Haha. My good doc today is not, so don’t want to sound ethnocentric, but the stereotype is rather true. I don’t know why everyone hates us? We do lots of good things–I worked with at-risk youth in public housing and ran programs in the prisons… Jeez! Lol. There’s a great Jewish doc in D.C. for EDS, but not taking new patients (and too far for me). He’s making people better–oh, my wish! My secret geneticist was Jewish. She goes by a married name and looks European so I had no clue until I met her and made one of my off-color jokes. Her personality was familiar and then she told me. Funny moment. I was literally in this little town in the middle of rock canyons in no man’s land. Weird! I said, “There are Jews here?” She replied, “12.” Must all be rock climbers. But that’s where my whole life changed and no one (aside from my mother) can take my diagnosis away! Oh, did you know there are EDS conference videos on Vimeo? I got the link to one on sleep problems–I know why I’m a fruit bat now! All EDS, as suspected. I bookmarked that one if you need the link (and then can see the others). Here you go: http://vimeo.com/35766364 (the doc from D.C.).
Off to bed to get more non-restorative sleep. Boo hoo.
A x
Thanks A! Will check out that link you sent me! Thank you so much. 🙂
By the way, Jewish people are great! 😉
Aw, thanks. Bad apples in every bunch, but we’re not what people make us out to be. If I were made of money like so many think, I’d rent a motel (actually, a fancy hotel) back East and get the medical care I need (forget the humidity), instead of living in one here and not having one doctor who really knows what EDS is! Stuck…
They just have to become more curious to be better doctors. But they don’t know that yet, but they will when something happens to them but then they will be useless.
Lol! It’s a rare find when you stumble upon a doctor that is interested and wants to try to solve the puzzle. I wonder why so many of them even go into medicine. Sigh…
I know. I wonder the same!
Nice words and happy for you but I love the picture. It’s the cutest pic Ive seen in a while.
Thanks! And yes, he’s an adorable little smiling sheep!
🙂 this is wonderful news, the diagnosis, a treatment plan. I know that it’ll be trial and error, but at least there’s validation and something to aim for. I am so happy for you and your daughter.
I just hope we can reverse the OI at least enough for her to be going a “bit” to school. Right now she’s not doing much and it worries me a lot. Perhaps I should have them come to the house.