Hi Dr. Diana,
I have been lurking around after ‘accidentally’ finding your theory a few weeks ago. I must say, it makes a whole lot of sense and I am trying to figure out how much of it actually applies to my daughter. If you don’t mind, I have a few questions for you. I figure our situation is probably fairly common and if you can answer my questions, it may help others as well.
Anyway, a bit of background: My daughter is 12, diagnosed with HEDS in March (I have known since May of 2010 that it was EDS). She started getting very bad last summer, debilitating joint pain, and fatigue; POTS symptoms[tachycardia when standing up or even sitting up some days, dizziness, near faints, nausea, extreme fatigue, tightness in chest] started in August.
By January, her headache (which had been constant for more than a year at that point) was worsening and other symptoms were becoming debilitating – dizziness, lightheadedness, nausea, blurred vision, serious sensitivity to light and sound. I suspected Chiari and/ or cranial instability – an MRI showed no Chiari but I think there is definitely low lying/ crowded tonsils and the brain stem is a slight angle. Most concerning is the fact that when she turns her head, the vision in her opposite eye blurs (i.e. when she turns her head to the left, her right eye blurs and vice versa). Dr. Tinkle feels this is down to cranial instability constricting the arteries and we are waiting to get some scans done – insurance nightmare.
She has spent most of her time since February in a darkened bedroom due to the severe headache and sensitivity to light and sound. Her nausea is worsening – she is starting to lose weight and there are days I have to force her to eat. Her quality of life is ridiculous right now. I had resigned myself to the fact that she was going to need cervical fusion and that it might not even relieve her symptoms – and then I found your theory. I still think she has cervical instability and might need a fusion, but now I believe there could be other pieces to this puzzle…
So, here are a couple questions:
1) Is it possible to have a low level of high pressure with a normal eye pressure reading? She had severe pain in her left eye this winter – ended up at an opthamologist and he said there was no sign of high pressure. (This was right before she starting getting so bad in February)If LP’s are contraindicated, how would one measure pressure?
2) Her brain MRI doesn’t show any obvious enlargement of the subarachnoid space (not obvious to me, anyway). But her hind brain is definitely crowed and doesn’t look like it is floating correctly. My understanding is that CSF blockage will cause many of the symptoms she has. If there are not high levels of pressure, Diamox probably wouldn’t help? Or is it a matter of trying it, assuming I can find a dr willing to prescribe it, and seeing if it helps? She has previously tried a tapering dose of steriods (helped a tiny bit) and dihydroergertomine (awful, made her headache worse)- the local neurologist concluded it isn’t migraines and told us to find someone at Children’s who could help us. We see the Headache Clinic at Cincinnati Children’s in August and I am wanting to bring up Diamox with them.
3) Regarding Mast Cell Disease: Depending on which list of symptoms I look at, she does have several – but so many of the symptoms overlap with EDS, POTS and cranial instability that it is hard to know which is which (and I know that is exactly why your theory makes so much sense!). I am not 100% convinced she has Mast Cell Disease but am not 100% convinced she doesn’t. Is it possible to have it mildly – or not in an obvious way? Could it be lurking and get worse as she gets older?
Ok, I have written too much already, so I will leave it there for now. I will just close by saying thank you for reading this and thanks for all the work you have done on the subject. I am hoping to get my daughter’s head measurements and send them to you – it really is a fascinating theory.
(I am attempting to attach one image of her MRI, hope it works!)