Sarah4444

I had my first bout of POTS/MCAD in my teens and it has gradually gotten worse over time (with long periods of ups and downs). At 29 I wasn't finished with my education yet but knew my body was struggling so I decided I'd better have kids before I got too sick (I didn't know what it was back then, just that I was going downhill). My first pregnancy was during a time that I wasn't having a really serious symptoms flare, went well until my daughter turned breech and became distressed at 37 weeks and was born by emergency C section. I did ok afterwards but again slowly felt like I was getting sicker. My second pregnancy at 33 was much harder - I had real trouble with POTS/OH. I didn't know what it was, just that I felt terrible and always had tachycardia. I had some bleeding and was put on bed rest and I think that made it even worse. My son was also born by C section - healthy but required bili-lights for jaundice. They are both healthy and wonderful now, worth every second of it. But I have never really been able to come back from the second pregnancy.

Both times since I was undiagnosed I did not have high risk prenatal care and was with midwives, who are licensed medical practioners where I live.

Sorry you are having to deal with this. I can't help you with doctors, but I do think I have read an article by Dr. Grubb which mentions POTS starting up after a head injury. Sorry I don't have the link, maybe someone else here does or you can find it with Google. It might help you with the doctors thinking you are nuts. So frustrating.

Chaos, he didn't explain it specifically, but seemed to feel the variability of symptoms related to different kinds and amounts of mast cell mediators being released unpredictably (my interpretation).

I get that sometimes too. I recently went to a talk given by Dr. Lawrence Afrin (mast cell expert) and he said his patients often report sporadic numbness/parasthesias in different/varying areas of their bodies - and that often this leads doctors to not believe their symptoms are real.

My feet are so cold they hurt, even in the middle of summer.

I've had both experiences. I felt better than usual during my first pregnancy (which ended in an emergency C section) and much worse during my second (and final!) pregnancy. I am not sure why.

Hi Jared,

I'm so sorry you are having such a hard time right now. All I can say is that not too long ago I felt exactly the same way, and things seem to gradually be getting at least somewhat better - it has taken time, meds, and exercise (which has been so hard), but I am seeing some improvement and have fewer days now like you are describing. I'm still far from normal, but at least can breathe again, empty my dishwasher, take my kids to the park once in a while for a short time. It's still very unpredictable and up and down.

A small dose of doxepin helps me at night, and one thing you might think about is Nalcrom/Gastrocrom. It takes a long time to work and has subtle effects - I had thought maybe it wasn't helping me, but I stopped it for a couple of days to do a urine collection and got terribly itchy and felt quite unwell by the end of day two. I also started doing better when I added salt capsules to each meal. And have you had your thyroid looked at? It seems like so many of us are hypo.

Hang in there. I know how hard it is to be so sick and helpless when you have little ones depending on you. But it does get better, at least to some degree.

Sarah

Sarah,

I have taken Florinef for years, but recently Dr. Grubb increased my dose from 1 1/2 pills a day to 2. Now I am having problems with my eyelids and upper lip swelling. Do you think your swelling was due to the Florinef?

Wow. Well, it could be - it seemed that way to me. You could also just be coincidentally having symptoms of anaphylaxis but the fact that the same thing happened to both of us makes that less likely, I think. Be careful, make sure you have Benedryl close by and that the people around you know what is going on (as much as any of us know).

I took it for about 4-6 weeks last summer and didn't notice that it helped. I did notice that when I went from .05 to .1 mg I immediately had an increase in anaphylactic symptoms - trouble breathing, weird coughing, my eyelids swelled and my eyeballs felt like exploding. It may have been a coincidence, but it didn't feel like it. I still struggle with OI a lot and play with the idea of trying it again, but haven't yet.

Hey Jared -

I just wanted to add that last summer, fall and winter I had a lot of trouble breathing like you describe. After many months on MCAD meds and midodrine (and after fighting hard to increase my ability to exercise), my breathing is much better. I think that over time Nalcrom/Gastrocrom may have helped stabilize me on top of just taking the anti-histamines, but I'm not sure. I was just so sick I didn't have the patience or ability to start really slowly on each med and see what happened. I hope that maybe with some time on the meds yours might improve too.

Hi casper,

There is a doctor in Germany I believe, named Dr. Molderings, who is an expert in Mast Cell Activation Syndrome - he recently co-authored that paper with Dr. Afrin. I don't know how far it would be for you to go (my geography is pretty bad), but it's one thing to think about anyway. I wonder if you might be able to email him? His email address in on the paper - it's called "Mast Cell Activation Disease: A Concise Guide for diagnostic workup and therapeutic options" and is in the Journal of Hematology and Oncology.

I often have times when it seems like I am constantly swallowing air and feeling like I have to keep burping it back up. The only place I have seen this as a symptoms is in a study on mast cell disorders.

After having no history of migraines at all, I suddenly started to have severe ones in late 2005 and they continued until earlier this year. Since I started the MCAD meds I haven't had one really severe one - once in a while (usually during PMS) I can feel one starting up but now just Advil seems to head them off.

Now that I know that narcotics/opiates are mast cell degranulators, I wonder if the migraines started because I had begun taking narcotics for pain earlier in 2005 and was perhaps accidentally aggravating my MCAD.

Kate, it's totally up to you. This may be a very slow process, so you could always just send in what you have now and add formal diagnoses as you get them. I don't have an "official" mast cell diagnosis yet either. But I do think that the more of us there are, the more compelling it would seem in terms of getting them to proceed with the research. So if you have the time and energy, I'd say why not?

casper, I believe that if this does go ahead they would just need a blood test so, no it should not exclude you. So far I have heard from over 30 people, and they are sending their cases in from all over the world. And the doctor understands how hard it is to get formal diagnoses.

Ultimately, if they can match a few people really closely in terms of symptoms and presentation they will probably only actually test a small number, hoping I think to pinpoint the genetic abnormalility/ies that might be affecting the whole group.

I have POTS and also developed hypothyroidism over the past 5-10 years, but don't have thyroid antibodies apparently.

Lyn,

Of course it's up to you, but I would encourage you to send in your info if you are interested - it can't hurt, and my gut feeling is you're likely one of this group. I should have been more clear that at this point we're looking for people with any sort of dyautonomia (TTT aren't the most perfect tools I don't think). Julie might have more to say about this, she knows way more about aneurysms than I do.

I'm really sorry about how hard things have been, and glad this site brings you some comfort. It has also been so helpful to me.

Volley, I just got back from a talk given by Dr. Afrin and he uses 115 as the upper level of normal for PGD2, so congratulations - you have evidence of mast cell mediator release. No you just have to find a doc who knows what s/he is looking at.

Lyn, thanks for your kind words. I am sorry to hear about all the difficulty in your family, but really hope that things are moving in a better direction now.

Sorry about the acronyms, Julie. HDCT is just Hereditary Disorder of Connective Tissue. Dr. Francomano told me there are over 200 identified so far, with Ehlers Danlos Syndrome (EDS) being just one of them. I actually have an unnamed one which is an overlap of EDS and Stickler Syndrome. I don't have small joint hypermobility like EDS people, but have hypermobile kneecaps, spine, hips, shoulder and ankles; my skin is unusually soft, but not really stretchy. Because of this, the Canadian geneticists couldn't diagnose it and I had to go to Baltimore.

JHS is Joint Hypermobility Syndrome. In his articles, Dr. Grubb specifies that POTS can be secondary to JHS, perhaps to indicate that it's not just related to EDS. I think there is some controversy about all this - some docs seem to feel that EDS3/hypermobility type and JHS are the same thing - maybe some members who know more about this could clarify this for me.

Godsgal, I just wanted to ask if you have any family history of joint pain, dislocations, aneurysms...I have come across several people on mast cell forums who have some kind of mast cell disorder (some have POTS, others don't) and when they inquire about the project they say they don't know about HDCTs, but have a history of their kneecaps or shoulders dislocating, or family members with aneurysms. Just like POTS and MCAD are very challenging to recognize and get diagnosed, I think the same can be said for HDCTs. Like Julie, I think this overlap may be more common than we think, with our most obvious disorders showing up or being diagnosed first, or depending on the kind of doctors we see.

volley9, I am sorry but I don't know the reference ranges for the tests you've posted - do you have them? I have only had the tryptase test so far and mine was also low, and I will be having the histamine done later this week. I hope one of the others here might know more about these levels, and even if you don't have firm diagnoses yet, I hope you send in your info for the project. Most people who have contacted me so far only have two of the three and suspect or are working on the third, but it's the pattern that is important to bring to their attention, and you can always update your info as you learn more.

For about a month last year I got really irritating tingling/burning in my lower arms, and also felt really odd when it happened. The sudden diarrhea/frequent urination was for me a sign of anaphylaxis I think.

Thanks for posting this, it's very useful for me. Wish I could consult with him in person too!

Hi everyone,

I have a really good geneticist up here in Canada, the kind of doctor who listens, reads reports from other doctors and studies I bring in...Anyhow, he has become interested in the fact that like me, a number of people out there have been diagnosed with some form of Hereditary Disorder of Connective Tissue (often Ehlers-Danlos Syndrome, but others as well), POTS, and a mast cell disorder. He thinks it's unlikely to be a coincidence that these three rare conditions/diagnoses keep occurring together in patients. One of his colleagues has funding to look for genes for rare diseases and he is hoping to suggest people with this triad for gene studies. To this end, he has asked me to try to gather up people with these conditions who might be willing to participate (I believe all they would need is a blood sample).

With Michelle's permission, I am posting a link to info about this study that was published on the EDNF:

http://www.ednf.org/index.php?option=com_content&task=view&id=2087

I believe what they want to do is try to get a group of people who all have POTS, HDCT/EDS/JHS, and mast cell disorder (you don't need all three to be definitely diagnosed at this point, but that would be ideal I'm sure), then they plan to send out a questionnaire to try to match a small group with similar symptoms as closely as possible, and perhaps run a gene study.

Please let me know if you have any questions after reading the info at the link, and/or if you are interested in participating.

licorice at the time used to help. You can spike your BP with caffeine as well that might help for five minutes but you might feel worse later potentially.

Rama, can you help me with the caffeine question? I had avoided it for a long time because my heartrate was just too fast and it made me feel unpleasant, but now that my symptoms have settled a little, a bit of caffeine in the AM seems to give me a temporary boost at a time of day when I struggle most with OI.

What might it be doing that could make me feel worse later?

That's really interesting. A little while ago Julie posted some info about Dr. Pall's theories re NO. I tried to read it and he recommends a bunch of supplements but where I live I don't have access to a person who can help me make informed and thoughtful medical decisions about supplements. However he also says he thinks Ascorbic Acid could help with NO abnormalities, so I figured taking Vit C couldn't hurt...so about three weeks ago I started taking 1000 mg slow release Vit C twice a day. It may have been a total coincidence, but after about 10 days I had the best weekend I have had for a while. Then I started skipping the Vit C and again it may have been coincidence (I have a lot of symptom variability), but I have been having a crummy week. Anyhow, my point is that I am going to start being careful about taking it again and see what happens.

I used to wake every night between 3-4 AM with falling bp, tachycardia, often sudden diarrhea, itching - now it looks like it was an anaphylactoid thing. Apparently histamine levels are highest at night, and I think there was also a study on this site about fainting in normal people being most easily induced at about that time of night.

Anyhow, 20 mg doxepin before bed has helped a lot with sleep for me. I still take a while to fall asleep (wired) but stay asleep much better. One doc I saw who runs a sleep clinic told me they have been using low dose doxepin to help a lot of patients, even without MCAD.