This morning I got my genetic results and finally had a diagnosis after 30 years of searching. I have Myopathic Ehlers Danlos. It is exceedingly rare. I could only find 3 other families with that diagnosis. It does explain a lot. I have a lot of muscle weakness and muscle failure, especially on exertion. I get hypotonia on occasion too (those days are very bad for fatigue and ability to ambulate) and usually my bp is low on those days.
I also have the wide array of symptoms that many with EDS have (and some that are less common in our population). POTS, Idiopathic Hypersomnolence, more recently Apnea (particularly severe during REM sleep), insomnia (very weird to have in conjunction with hypersomnolence), High IGE, low IGG, poor response to pneumovacc, iron storage dysfunction, persistent vit d deficiency, hashimotos hypothyroiditis, chronic migraine, brain fog (such an off the cuff way to express such a debilitating disorder), dislocations (most frequently in SI/sacrum, ribs, and toes), blurry and double vision, idiopathic angioedema, idiopathic abdominal swelling, chronic urticaria, chronic conjunctivitis, chronic rhinitis, sensitivity to chemicals and inactive ingredients in medications, plaque psoriasis, celiac’s disease, kidney stones, kidney pain during episodes of swelling, fibromyalgia, tachycardia, bradycardia, variable bp (high and low, but mostly normal on testing), orthostatic intolerance (hypertension on poor-man’s tilt table, hypOtension on final tilt table test).... and a partridge in a pear tree…. I’m sure I’m missing some things. It’s a huge list and hard even for ME to remember it all. I have temperature dysregulation, sporadic high fevers (up to 104.1), areas of frequent numbness, intermittant contracture in my arms and legs.
It took a long time, but I finally assembled a crack team of doctors who are smart, who listen, who research, who are willing to be partners in my care. It has made all of the difference in the world. But…
I am still struggling to figure some stuff out. For instance, when I read The Driscoll Theory (new one) today, I had a big AHA moment about why I feel so much more cognitively alert (I just started topomax AGAIN when my migraines became daily. I had stopped in 2015 when it stopped working.) It explains why I get so hot at night sometimes that I wake up panicked, feeling like I will spontaneously combust and suffocate. I think I need to read it and the eye book a few more times, but I am struggling to process all of the information into a potential action plan. I have a ton of test results already.
I know that my tryptase is normal, my prostaglandin 2 beta is elevated, my IGE is elevated, and my other results are normal. I know that my T Cells and B cells go up and down. I know that I respond to H1/H2/Cromyln Sodium, but I can no longer tolerate ranitidine or cromyln sodium. So, not sure where to go from there. Currently I had 2 loratdine in the morning, 1 xyzal at night with 3 hydroxyzine. I am supposed to also take singulair and cromyln sodium (4x day), but haven’t started the singulair again yet, as I just figured out that the cromyln sodium was causing the most recent bout of nausea and swelling.
I had another AHA moment when reading about increased intercranial pressure. I do sometimes get fluid down my nose when I lean forward, especially when I have headaches. I feel pressure in my face (especially around sinuses, eyes, in right ear, up the right side of my face) a large portion of the time. It is also worse when I have angioedema flares (which typically present on the right side of my face/neck down to my upper back) Weather and leaning over make it much worse. I have had migraines that felt like my head would literally explode, and I was in so much pain I sobbed and kept my hands splayed around my skull, like I could hold it together. Fortunately, they are not usually that bad. But sometimes they are really severe. I figured out on my own that anti-inflammatories (particularly ibuprofen 800 mg) can help when maxalt doesn’t. But that’s not great for my stomach. I get gastric ulcers. So, I will keep on with the Topomax and increase the dose back up again.
My sleep specialist took me off trazadone and put me on melatonin. The two together were helping me sleep, but the melatonin only is not. I find I have difficulty falling asleep and staying asleep. The fatigue is crushing. My sleep schedule is currently upside down. I go to sleep around 1 and get up between 11 and 2:30p. If I do not have stimulation, such as reading my phone, I tend to get groggy and fall asleep. I had to stop driving because I couldn’t stay asleep behind the wheel.
My food list is very short and primarily includes corn, meat and dairy. The PCP wants me to remove dairy to go lower on histamine foods, but when I remove dairy, I eat more vegetables and they make me sick. So, I end up on dairy again. Grains/tubers in general make me swell. (Not just gluten grains, also rice, oats, potatoes, etc.). Corn seems to be the exception. I am consequently low or deficient in many vitamins. But vitamins make me sick. I am going to be trialing some ionic vitamins (b2 and magnesium to start).
I feel best when I do almost nothing.
I recently came down off all medications to figure out what was making me so sick. I am gradually adding them in again.
Vit D 40,000 IU a day
(Magnesium & B-2 coming)
Lyrica 300 mg
2 loratidine in the am
1 xyzal at night
3 hydroxyzine at night
10m melatonin at night
*titrating up on Topomax
Stopped midodrine, as it seems to make me feel worse
*Started soft collar today, but have been intermittantly using a wire neck support for computer/tv/reading, as my neck lists to the right.
Anything obvious missing that I should be considering the Driscoll theory?