Looking For Help To Get Diagnosed

[Stevetreb]

Hi my name is Steve, I'm 24, and I'm looking for any help anyone could give me in regards to my situation. I've seen countless doctors and none of them have any comments except to tell me that my case is "interesting".

Short version:

Its been 4 years since I've seen my first doctor and ever since then they've suspected I have a pheo. They've done 2 MIBGs which showed uptake on my left adrenal gland, countless CT scans which showed a 6mm x 10mm mass in the same location where the uptake was, but all my biochemical tests came back negative (well my 24h urine tests came back slightly high but not close to the 4x requirement to suspect pheo). No doctor knows what to do so I've been looking up and talking to people online in regards to my symptoms. The person that referred me here suggested I do a home tilt table test (even though I had one at mayo in suspicion of POTS but it came back normal) and my results showed a 20 jump in pulse (which I think is normal compared to what other people have) but my diastolic jumped 20-30. Is this suspicion for orthostatic hypertension valid? I am on BP meds at the moment. Also just to name one of my symptoms is flushing. The flushing feels as if my blood was boiling and sometimes my hands look slightly swollen if the attack is strong enough.

Long version:

Ok to start off here is a list of my symptoms (off memory because my doctor stole my list):

Cough

High BP

Flushing of my entire body except certain spots (the flushing still happens but isn't as strong while on meds, I take lisinopril at the moment)

Stomach pain (was tested and I have slow motility but I doubt that causes the pain)

Night sweats

Freezing fingers

Dizziness/light headed

Chest pain

Pounding heart (not racing)

Headaches (they are gone for the most part while on BP meds)

Trouble waking up (my eyes feel like magnets and my head feels like its in a vice which makes me not want to move)

Constipation and diarrhea

A feeling of a pebble or giant grain of sand under eyelids (mostly after I wake up)

Extreme neck stiffness

Foggy vision (doesn't happen to often so I'm not sure its worth mentioning)

Feeling blank minded

This all started 4 years ago with a cough which I didn't want to see a doctor for until people got sick of my coughing and forced me to go. They checked my BP like any normal visit and it was high so for whatever reason that doctor ordered a 24h urine test which came back slightly high. They then ordered a CT scan which at first showed nothing so they ordered an MIBG which showed uptake around my left adrenal gland. My doctors went back to the CT scan and found a 6mm x 10mm mass in that same area. A repeat 24h urine test was ordered but it came back even lower than the previous so they literally gave up on me saying "it wasn't a pheo" and didn't want to test for anything else (these were all endocrinologists I saw and a few primaries). I went to a cardiologist who instantly referred me the hypertension clinic at University of Washington. They suspected POTS because of a 20-30 pulse rise upon standing up so I went to mayo. They did a 24h BP monitor test, a sweat test, and a tilt table test (I was still taking my medication the day prior of the tests) but it came back normal. So I went back to UW and they said theres nothing else we can do for you and sent me on my way. I went back to focus on the pheo because that was the only thing I could think of. I contacted MD Anderson through email about a year after with my labs and they said it warrants another look at. At MD Anderson they did another MIBG (which showed uptake in the same area as the first), a revision 5 CT scan which I think is the latest(?) and that showed the same mass but the size was the same, and my biochem tests were all normal. They couldn't give me a single answer as to why the MIBG showed uptake and told me the mass was most likely a lymph node.

So after all that I saw a GI for the stomach pain (the same GI I saw in 2006, which was 6 years ago from that appointment) and all he could tell me was I had slow motility which is what he told me in 2006. No help with the slow motility or nothing to tell me what causes it. He referred me to a GI at UW for the flushing as they suspected mastocytosis but it came back negative. He told me that they could test for different kinds of mastocytosis but didn't think it was worth it. Recently I've been seeing a new endocrinologist for the flushing and BP and he suggests I go back to Mayo but to see Dr Young, the head of the endocrine society.

I am hesitant to go to Mayo or any doctor in the US out of my state because I don't want to waste money like I did the previous 2 trips with no answers. I ended up looking online and emailed a lady who suggested I do a tilt table test at home. I did the test 3 different times and here are my results:

Laying down 15min - 117/73-65

Standing 1st min - 124/91-70

2nd min - 125/92-73

3rd min - 127/93-74

4th min - 126/85-75

5th min - 130-/2-84

Laying down 15min - 150/91-60

Standing first minute - 151/100-69

Second minute - 160/99-70

Third minute - 152/102-69

Fourth minute - 145/93-65

Fifth minute - 149/94-61

Tenth minute - 146/91-73

Fifteenth minute - 145/104-80

This test was done right after I woke up and felt that I could stand up after taking my first BP, at that point I was probably awake for 15-30min.

After sleeping - 126/83-44

Standing 1min - 143/95-71

2nd min - 145/111-77

3rd min - 148/115-85

4th min - 149/116-87

5th min - 169/96-78

10th min - 142/105-70

I forgot to take my pills the day before of the last last which is why my BP was higher than the others.

So my questions are:

Do those results warrant a second look or are they even worth mentioning to my doctor?

If I take them to my doctor is there anything I should mention or do so they stop jerking me around?

Are there any other specialists I should see? Like a hematologist for the flushing or a different specialist.

If I should see a different specialist are there any good ones in the Seattle area?

I'm willing to travel to see a doctor but at the same time extremely hesitant to do so as well. At this point I'm more willing to see a doctor in Europe as I have family there and it would end up being cheaper due to hotels.

PS when I look up mastocytosis I see various skin conditions or when I read about it people say they have flushing that is like a second layer or raised off the skin. My flushing is just my skin turning red and hot, all over my body. I'm not sure what to think about that.

Any help would be greatly appreciative.

[badhbt]

Hi Steve,

Wow you have done a lot my friend. I have to commend you on your dedication to get an answer. I am learning that sometimes there is no answer in the medical field (I am a Nurse)

Did UW ever do a TTT on you? I went there for my autonomic testing. I did find a Neurologist in Everett who use to work at the UW in their autonomic testing. Her Name is Dr. Thyerlei and I think she is really good. She spends a lot of time with you and is very knowledgeable. I have a cardiologist at Group Health that knows about POTS also. I am not sure what type of Doctor you are looking for. It sounds like you have many things going on. Usually a good internal medicine Doctor can put the pieces of the puzzle together, but I haven't found one here.

If your insurance will pay for it I would recommend seeing her,

Good luck and don't give up

[Stevetreb]

Hi Steve,

Wow you have done a lot my friend. I have to commend you on your dedication to get an answer. I am learning that sometimes there is no answer in the medical field (I am a Nurse)

Did UW ever do a TTT on you? I went there for my autonomic testing. I did find a Neurologist in Everett who use to work at the UW in their autonomic testing. Her Name is Dr. Thyerlei and I think she is really good. She spends a lot of time with you and is very knowledgeable. I have a cardiologist at Group Health that knows about POTS also. I am not sure what type of Doctor you are looking for. It sounds like you have many things going on. Usually a good internal medicine Doctor can put the pieces of the puzzle together, but I haven't found one here.

If your insurance will pay for it I would recommend seeing her,

Good luck and don't give up

Thanks for the response, I'll suggest the possibility of seeing Dr. Thyerlei in my upcoming appointment which is in 2 weeks.

No UW never did the TTT on me. I saw Dr. Ahmad at the hypertension clinic and he suggested going to mayo as they either had better equipment or UW didn't have the equipment at the time (this was back in late 2010 early 2011 so my memory on what he said is a little hazy).

I am just looking for a doctor that would know something on the issue. For the most part I've only seen endocrinologists. I've seen a neurologist who did a MRI for my headaches but we already knew the headaches were caused by the blood pressure and told me there was nothing else he could do. I saw a cardiologist but all he did was an EKG and then referred me to UW. I saw 2 GIs but again they didn't see anything except for slow motility.

I had an internal med doctor but when I challenged him he threw out the suggestion that it could be all in my head so I stopped seeing him. I tried seeing a new one at the same place but they told me to go back to my original because hes the one thats been on the case since day one.

I wanted to see a hematologist because of the flushing being the most visible symptom I have, its not something someone can say is in my head but was wondering if that was the right place to go for the flushing and if there were any good ones in my area.

[ShakeyTheOwl]

Hi Steve!

Badhbt is correct, regarding science and answers. (took me a few years to grasp that there may not always be answers)

I too see Dr. Thyerlie, and will state she is incredible and very respected and missed from the UW. She specializes in autonomic nervous system, and I believe this is they type of neurologist you want to see, one that understands this complex system.

The TTT at the UW is also one you should look into if you are wanting diagnosis or rule out Dysautonomia.

I had mine in January at the UW, great tech and staff, but not an easy test if you have Dysautonomia...

(went through two and half years of heck trying to get a diagnosis, it was very frustrating, and not uncommon with Dysautonomia and it's sub types. at onset of illness it was thought I had a lymphoma and underwent so much testing/biopsy regarding)

Dr. Thyerlie is fantastic and hope you can consider to see her, if anything a consult?

You mention going to Europe ...

She is originally from Germany, educated and has trained there and in UK, additionally to here in USA. She brings a big background of experience and education. Which is something I highly respect.

Regarding that flushing? Can't say which specialist is best, but do read about folks with Dysautonomia that get this from different reasons. I have Skin Marbling, which has to do with the blood vessels and blood pooling. (red spider web like patterns with purple/red and yellowish hue to legs, purple/black feet/ hands)

This was diagnosed via Neurologist.

Hang in there. You've come to a great forum with incredible information and amazing members!

[Dizzysillyak]

Hi steve,

Looks to me like you've done the traditional medical route. Have you tried seeing an integrative

doctor ? These are medical doctors but they also understand how to help the body heal itself. If not fwiw, the first step they'll have you try is an elimination diet. I'd suggest the paleo diet because it eliminates all toxins and the most common food intolerances. Eliminating one at a time is time consuming and may not provide your body the break

it needs from toxins. Withdrawal reactions can typically be avoided by slowly removing toxins.

Most of your symptoms could be from intolerances including allergies. Taking an otc allergy med

despite being neg for mcas may help. There is info on this site about mcad and mcas.

I'd look at parasites and bad gut bacteria too. At home treatments can be found on the web.

Hth .. D

[Stevetreb]

Hi steve,

Looks to me like you've done the traditional medical route. Have you tried seeing an integrative

doctor ? These are medical doctors but they also understand how to help the body heal itself. If not fwiw, the first step they'll have you try is an elimination diet. I'd suggest the paleo diet because it eliminates all toxins and the most common food intolerances. Eliminating one at a time is time consuming and may not provide your body the break

it needs from toxins. Withdrawal reactions can typically be avoided by slowly removing toxins.

Most of your symptoms could be from intolerances including allergies. Taking an otc allergy med

despite being neg for mcas may help. There is info on this site about mcad and mcas.

I'd look at parasites and bad gut bacteria too. At home treatments can be found on the web.

Hth .. D

I have not seen a a integrative doctor but I have altered my diet extremely since this all started due to the stomach problems. I only drink water and green tea with no sugar. Everything is home cooked and I eat plenty of fruits and vegetables. If I eat bread its rye bread. I never use butter or condiments (ketchup/dressings/oils). There was a time where I cut meat out of my diet completely but there was no change in my symptoms.

I was allergic to milk as a child but I was told I outgrew it, even so I dont drink or eat milk products much.

Dr. Thyerlie is fantastic and hope you can consider to see her, if anything a consult?

You mention going to Europe ...

She is originally from Germany, educated and has trained there and in UK, additionally to here in USA. She brings a big background of experience and education. Which is something I highly respect.

Thats good to know. I actually prefer European doctors and I as well was born in Germany although I dont speak German, only English and Polish.

In regards to Dysautonomia would anyone know of any websites or articles specifically on Orthostatic Hypertension? When I look it I do find some things on it but the majority of the results are about Hypotension and I dont really have a BP drop. Although we do know my blood pressure is all over the place, constantly changing.

[Dizzysillyak]

Good to hear you're familiar with food intolerances. Rye contains gluten and is a problem

for anyone who's sensitive to gluten. We actually see a fair amount of gluten intolerant people on this

board.

Food intolerances can be difficult to spot so hopefully you've kept a food diary and eliminated

everything you eat regularly for at least a week or so. Testing for allergies or antibodies can help.

I actually produce antibodies to egg whites and had no idea.

If not already, drinking distilled water or high quality spring water may help. I'd skip the green tea

for now and stick with water. You may be reacting to the caffeine. Now that I've stabilized I can use several non dairy milks but that took

time. I suspect Zyrtec is helping me with this too.

If you're taking supplements or meds these probably need to intolerance free as well. I react very

quickly to lactose and soy in supplements or drugs.

Not to be too gross but parasites and bad bacteria can cause big problems for some. A cdsa will

show these or you could just try treating these yourself. Having parasites and h pylori at the same time

made me too weak to stand up for any length of time.

Hope you feel better soon. D

[HopeSprings]

What about Carcinoid? I don't know much about it, but when you said "flushing" it popped into my mind.

[arizona girl]

Steve, try searching our site for mast cell activation syndrome. There are a bunch of members who have it. It is different then mastocytosis, as you will read.

Many of the symptoms you describe also sound like early autoimmune disease. When you have this you can develop a small fiber neuropathy that effects your autonomic functions. Though honestly your numbers don't look like POTS. It also appears that you have hypertension regardless of position, and the bp meds are controlling that.

You never mentioned what happened with the cough. Do you find that you get a lot of infections or feel like you are running a fever, but it never gets very high? That also can point you towards other testing. I think Dr. Therylie would be a good choice as well. She responded to a educational POTs brochure that we sent out, in a very positive way. Thanked us and ask that we send the brochure out to the rest of the cardiologists there.

[Stevetreb]

Good to hear you're familiar with food intolerances. Rye contains gluten and is a problem

for anyone who's sensitive to gluten. We actually see a fair amount of gluten intolerant people on this

board.

Food intolerances can be difficult to spot so hopefully you've kept a food diary and eliminated

everything you eat regularly for at least a week or so. Testing for allergies or antibodies can help.

I actually produce antibodies to egg whites and had no idea.

If not already, drinking distilled water or high quality spring water may help. I'd skip the green tea

for now and stick with water. You may be reacting to the caffeine. Now that I've stabilized I can use several non dairy milks but that took

time. I suspect Zyrtec is helping me with this too.

If you're taking supplements or meds these probably need to intolerance free as well. I react very

quickly to lactose and soy in supplements or drugs.

Not to be too gross but parasites and bad bacteria can cause big problems for some. A cdsa will

show these or you could just try treating these yourself. Having parasites and h pylori at the same time

made me too weak to stand up for any length of time.

Hope you feel better soon. D

I recently started to keep a food diary just to show to my doctor. I have been tested for allergies but it was the basic test (pets, mold, pollen) and that came back normal.

I actually took a 1-2 month break on the green tea and there was no change so I recently just started again (2 days ago actually).

What about Carcinoid? I don't know much about it, but when you said "flushing" it popped into my mind.

I have been tested for Carcinoid but those tests came back negative as well. I have not had an octreoscan but that was throw around as a suggestion. Along with the octreoscan a epinephrine provocation test was thrown around too which I actually want to discuss with my endo in my upcoming appointment.

[Stevetreb]

Steve, try searching our site for mast cell activation syndrome. There are a bunch of members who have it. It is different then mastocytosis, as you will read.

Many of the symptoms you describe also sound like early autoimmune disease. When you have this you can develop a small fiber neuropathy that effects your autonomic functions. Though honestly your numbers don't look like POTS. It also appears that you have hypertension regardless of position, and the bp meds are controlling that.

You never mentioned what happened with the cough. Do you find that you get a lot of infections or feel like you are running a fever, but it never gets very high? That also can point you towards other testing. I think Dr. Therylie would be a good choice as well. She responded to a educational POTs brochure that we sent out, in a very positive way. Thanked us and ask that we send the brochure out to the rest of the cardiologists there.

I dont think I have POTS either as my heart never really goes above 100 but I do get lightheaded and dizziness not only when standing up but when bending over. I also have trouble looking down for an extended period of time.

I do not get infections but when I flush my face feels like on fire (but so does the rest of my body if it flushes). For example right now my right hand is all red except for the center of the top of my hand. My left hand is half and half, the index and middle finger are flushing while my ring and pinky finger are ice cold while the 2 fingers that are flushing are hot.

As for the BP its hard for me to say. If I'm sitting and I have no symptoms then its normal. If I'm sitting and flushing for example right now its 163/102 and my pulse is 73 (havn't missed a day on my pills for a week now) compared to 129/75-50 which was taken a few days ago while sitting and no symptoms present. My blood pressure is really uncontrollable as well. Off the pills it was constantly going up and down, some doctors thought my BP machine was broken yet I have 3 different ones and when I took them to the doctor to compare they showed nearly the same results.

Oh I also was sent an article on MCAD and will bring that up in my appointment as well. Although i dont have "dermatographism" or this stretchy skin some have. My skin doesn't rise when its flushing but if its severe enough my hands will look swollen.

This is what my flushing looks like:

http://1.bp.blogspot.com/_7DZzfUt4UVQ/TCPc35xgcuI/AAAAAAAAAWc/hsYPT6c2qqM/s1600/28273083b862e75f3d3ab6fd4313c4c05c4748e6.jpg

[arizona girl]

Steve, the swinging of the bp up and down with change of posture could be another form of pots called a hyperandrenergic response or hyper pots. It is usually associated with a rise in HR as well. That is what I have as a result of the small fiber neuropathy, which was diagnosed by a skin biopsy and a very abnormal TTT.

Your flushing really does sound like what the mast cell activation members describe. You can search the site by using the search feature at the top of the forum page.

[Lemons2lemonade]

Pheo, Hyperadrenergic, and/or pulmonary hypertension would be my guesses of things to ask your doc about. Have they considered doing a biopsy on this mass? Also, have you ever heard of clonidine? And, did they do a laying/standing i want to say its metanephrines but i could be mistaken (its the blood test they do for hyperpots) at mayo?

[Stevetreb]

Pheo, Hyperadrenergic, and/or pulmonary hypertension would be my guesses of things to ask your doc about. Have they considered doing a biopsy on this mass? Also, have you ever heard of clonidine? And, did they do a laying/standing i want to say its metanephrines but i could be mistaken (its the blood test they do for hyperpots) at mayo?

They dont want to touch the mass because so far any biochem test that was done is either normal or just slightly high (about 10-50% high yet a pheo diagnosis requires 400%).

I've had a clonidine suppression test but I was also told if the mass is small the results could come back normal, which they did. I had a plasma free metanephrine (which requires you to lay down for 30min prior to taking the sample) but they didn't have me lay down as they said its to save time or something of that sort(at MD Anderson).