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.