Madness

[Traceyf]

Hi Everyone

So happy to finally be able to post! I am currently undiagnosed. I have a TTT scheduled for next week at Beth Isreal Deaconess Hospital in Boston. I have a brother who is diagnosed with POTS, hyperengerneric, Mito disease, and a 10 year old daughter diagnosed with Mito and dysautonomia. Her presenting symptom at this point is problems with temperature regulation and recently has had numerous bone fractures. She has passed out 3 or 4 times now. I have 3 other daughters who have a history of passing out, less now that they are in their 20's.

I have had issues for I would say 15 years. I have always had periods of time where I would be "overstressed" the doctors would say and I would be in bed for 2 weeks at a time with exhaustion, muscle pain, joint pain, dry eyes, cold hands and feet, red nose, tingling in hands, feet and face, palpitations, migraines which resulted in permenant vision loss in one of my eyes, bouts of dizziness and vertigo.

I am treated at Massachusetts General Hospital in Boston. After doing the round of doctors in the last 15 years I was told that I had..fibromyalgia, mixed connective tissue disease, complicated migraines, and panic disorder.

In February of this year I started with vertigo. This has progressed to extreme fatigue, constant restlessness, foggy head feeling while standing, flushed feelings (although my skin looks pale and doesn't turn red ) I am freezing half the time and feeling so flushed the other half of the time that I have to go outside to get relief. I have absence of sweating, and my body temperature goes up. I feel like my feet wont hold me up when standing. I cant stand completely still, I sway.

I have been on a beta blocker for 12 years to control migraines. I have also been on klonopin .5 mgs for 12 years for my so called panic disorder.

All this time I have never had my blood pressure or heart rate taken while standing. My BP has always been 130/77 sitting and my pulse runs around 65 sitting. At my brothers suggestion I did a poor mans TTT and was suprised to find that my supine BP which was 130/74 HR 52, rose to 154/93 with a HR of 94 upon standing.

I am now in what I believe to be a state of Madness. I have been back and forth to my PCP, who has no idea what to do with me, except to tell me that it is not normal for your BP to rise upon standing! At my request he sent me to a neuro at MGH who was supposed to be familiar with POTS and dysautonomia. The nuero ran blood work for tumors. Nor epi and epi levels, and cortisol levels. He wanted to put me on Topomax. Obviously he thinks its migraine related. Obviously he has heard of dysautonomia and POTS but obviously he has no idea how to treat it.

I saw an endocrinologist who did cortisol testing which was normal. My Vitamin D level was a 1, so she wants me to do the 50,000 IU for a week.

I was scheduled for two TTT at MGH which I cancelled because they were going to give me an injection to make me pass out if I didnt pass out. I keep telling them I dont pass out, yet I feel like I am going to pass out!!

My life has gone from one extreme to another. I was supposed to be on a flight to Florida Tuesday but I just couldnt do it. I cant walk from my front door to my car without feeling short of breath. Im lucky I get a shower in and thats the highlight of my day lately. I feel like I am on the edge constantly. I have tremors, and then muscle weakness.

I have worn 2 holter monitors recently. Both came back normal except for a couple of runs of heartbeat at 120-130. I also had an event monitor. I am scheduled for a stress test next week. I have seen cardiologists 10 years ago and had all of these and an echocardiogram before. I have also had MRI of the head and neck, and the spine. I have had EMGs, ,.....etc etc etc.

I am weaning off the beta blocker so that I wont be on it for the TTT, this is no easy feat after 12 years!! I have upped the klonopin by ,25 mgs because I was non functioning. I had such adrenaline rushes that I couldnt even go to the grocery store. I also get lightheaded just having a conversation. I beleive that off the beta blocker I will have a much larger jump in HR.

Any input is appreciated. At times I feel I am losing my mind!! I applaud all of you who are living with this.....I am only going to BI because I have now realized how difficult a diagnoses is going to be....I live in an area where we are supposed to have some of the best hospitals in the world.....and I cant find anyone to treat me let alone diagnose me!

Sorry for the long winded post. Thanks for listening.

[SpinnyC]

Welcome Tracey,

Sorry you are feeling so bad, but glad you seem to be on the right track to getting answers.

It's so frustrating to run around (or be passed around) from doctor to doctor. But it sounds like it might get better since you are finally going to see someone who is actually an autonomic specialist- so that's good.

After I was first diagnosed I was so frustrated, and shocked at how easily I could have been given the right diagnosis. If one of the dozens of doctors I'd seen had done something as simple as take my postural vitals I would have avoided years of struggling and fighting with no answers or treatment. And I didn't have the strong family history of diagnosis' that you did- WOW.

Hang in there- hopefully feeling worse off your meds in the short-term will get you answers and a plan for treatment going forward.

[Traceyf]

Yes we do have a strong family component. From what I have found it can work against me though. Sometimes doctors give me the look as if I couldnt possibly have that many family members with similar issues. Sometimes after I give all the explanations, the family history, my symptoms, all I get back is...."you are a very interesting case". I just want someone to help me get back to even close to my "normal". I think acceptance of the new "normal" must be one of the hardest parts of this disease.

[Katybug]

Hi Tracey. Have you heard of familial dysautonomia? I don't know much about it but it exists and it sounds like something you may want to research. I also wonder if you have any flushing or symptoms of mast cell activation like rashes or GI issues?

[corina]

Hi Tracey, welcome to the forum. I hope youe appointment at BI will give you some answers so you can work from there. Good luck!

[LBUQUOI]

Hi Tracey,

Have you had your adrenal glands looked at and tested? Aldosterone levels? I have almost all the symptoms you described only not on the same level that you have them. My aldosterone was low. I've read that either my adrenals don't make enough hormone or I don't absorb it. At any rate, the lack of hormone affects my "Automatic Nervous System". All the symptoms you describe are something that is run automatically by your body without you thinking about it. Your adrenals play a really, really large part in that system. I'm also reading that the aldosterone test must be done properly for a true level. It's different from your routine tests. I don't think mine was done properly, but even so, my levels were low. My symptoms go through spurts. This week has been terrible. Last week was good. I am trying to incorporate a routine that is supposed to help. It does.

Eat within 1 hour of waking. Eat protein. Eat every two hours; protein. Stay away from sugars, stimulants. Take my vitamins, specifically, C, B5, Multi, B12, E. It helps when I can get myself on the routine.

I'm a coffee fanatic, so it's hard to stay away from the coffee.

I read too that I should make changes one at a time so I know what works and what doesn't.

Hope that helps.

[HyperPOTS8]

Tracey, have you been tested for antiphospholipid syndrome/Hughes syndrome? With migraines and loss of vision in one eye and dysautonomia, you should be tested. This can also cause spontaneous metatarsal and other fractures.

[Traceyf]

Hi Everyone

Thanks so much for the replies! Familial dysautonomia was ruled out . When I had the vision loss from my migraine I was checked very thoroughly for any type of blood clotting disease and anti phospholipid syndrome was also ruled out. They could find no answer for the vision loss except the migraine. I saw many specialists at that ime at mass general Hospital Boston, and also mass eye and ear in Boston. The only thing all of these specialists did not do at the time ........was take my BP supine and standing.

As for mast cell...I do think there is one component there. 15 years go I started having what they called out of the blue anxiety attacks. Racing heart, chest tightness. After many doctors appots i was found to have severe refux. I had a lap nissen procedure to stop the reflux because I had high sensitivity to all the meds and couldnt take them. I have issues with meds...I seem to have the rare side effects. after that surgery is when I think a lot of this started with me. I still suffer GI gastritis, IBS and other stomach issues.

I do have some sweating...from my feet only. Its actually very odd. That just started happening with this latest flare up. Also with this flare I had increased unrination which was so frequent that had me freaked out also!

I dont know if I have flushing. When upright...and moving around my house, cleaning etc. I get horrible feelings of heat from my neck up. Feels like I am on fire or like a should sweat to release the heat, but I dont. I do not get red in the face or neck though. I am actually pretty pale while standing. Is that considered flushing.?

I also just had an endocrinologist appt. She did a adrenal test where I had my blood drawn, then I had a shot of something, ACTH I think. I waited and hour and had another blood draw. My numbers were good for that and she told me that I do not have adrenal failure based on that finding. I have not been tested for aldesterone. Will the autonomic lab do that when I see them next week? Not sure what to expect there.

I have a consult coming up with a metabolic doctor to check for the mitochondrial piece. Thats where my brother and my daughter and I share the connection, we think.

Has anyone been tested in the Boston area. I am still dumbfounded by how little they know about this at Mass General.

Thanks again

Tracey

[Traceyf]

Also...I just turned 50 ..ugh Anyone find that this disease gets worse for women at this age. It must be hard to sort through the menopausal connection. My GYN said that I am not in menopause yet. Peri menopause absolutely. Some of these symptoms overlap for women at this age.

[Jennij]

Hey Tracey,

Have you looked into being seen at UMass Memorial in Worchester. They have an autonomic lab as well. I'm interested to hear about your experience at BI though. I live in New England and have struggled to find adequate knowledgeable docs.

Jenn

[Traceyf]

I have a second opinion scheduled there in January. Haven't heard much about anything here though. There seems to be someone at Boston Medical also. Where were you diagnosed?

[Chaos]

Also...I just turned 50 ..ugh Anyone find that this disease gets worse for women at this age. It must be hard to sort through the menopausal connection. My GYN said that I am not in menopause yet. Peri menopause absolutely. Some of these symptoms overlap for women at this age.

I think one of the most frustrating things for me has been how frequently docs are willing to explain away symptoms as "part of the aging process". They've been giving me this line for the past 3 years since I got sick and I'm not 50 yet. Can't wait to see how much more frequently that happens once I hit that magic number in a few months. I'm on hormone replacement though so that takes away some of their "must be menopause" arguments.

[Jennij]

I have a second opinion scheduled there in January. Haven't heard much about anything here though. There seems to be someone at Boston Medical also. Where were you diagnosed?

I was originally diagnosed at UMass Memorial.