Hello Everyone,

    I’m so happy to have found this forum and this disease. It sounds weird, but for once in my life it’s nice to know what may be making me, my identical twin, and my mother sick. Ever since I can remember my twin, myself, and my mother have all suffered to differing degrees from the below list of symptoms.


Symptoms
-Low blood sugar/hypoglycemic, we have to eat every few hours or become dizzy and pass out
-Low blood pressure
-Veso vegal syncope/passing out- triggered by pain, stress, food, digestive pain, loud noise. large crowds, anger, excretion, standing up too fast, needles/blood drawing, raw meat (when we were little), fear, high temperatures, public speaking, pretty much anything upsetting or distressing, even just focusing on the idea of passing out makes me get woozy. Being near my sister when she passes out makes me pass out too
-Heart beat feels strange, too strong or too light,  or weird rhythm.
-Seizures- rarely the passing out is also accompanied by grand mal twitching seizures, though mostly for my sister and not myself
-Muscle cramps in all parts of the body often
-Aching feeling in our bones, especially legs
-Cysts in my legs during x-rays
-Muscle aches/leaden feeling as if I had always just come from the gym/working out... but I definitely don’t go to the gym/work out. The pain makes working in our bakery very difficult, as it requires a lot of physical labor. (I’ve been on a low histamine diet for the last 5 days and am now nearly pain free for the first time in years! Yay!)
-Constipation- sometimes for a week plus regardless of what was eaten
-Diarrhea- at least a third of every month regardless of what we eat
-Small colorless lumps on the back of our arms. They don’t itch
-Small red/orange spots all over our skin, ever so slightly raised, had it since we were very little and it’s gotten much worse after college
-Small sores on our scalps in addition to constantly oily itchy scalp/hair
-Constant mild tight/sore throat
-Constant stuffy nose/ears
-Runny nose
-Extreme exhaustion, once in a while under circumstances where I am fully rested I can barely walk 10 steps without needing to crash and fall asleep, despite being able to run 2 miles (a large distance/accomplishment as running usually triggers syncope) 3-4 days a week the week beforehand.
-Extreme migraines lasting week+ with light fuzzy auras and everything....
-Itchy stinging eyes
-Weird icy tingling numbness in our toes
-Legs often numb/asleep... thought this might be due to low blood pressure and an inability to force blood flow?
-Extreme bruising... my twin and I bruise easily and are often covered with them to the point that people ask us if people beat us. Blood tests never show anemia
-Constant heart wrenching nausea. One moment fine and the next laying on the floor feeling poisoned, wanting to vomit/die. The most extreme cases of this usually are only resolved once we pass out and wake back up. The minor cases of this happening  just require sitting down and waiting till they pass
-Weak nails and hair. They constantly break/white marks all over them
-Extreme dry skin despite being in Florida during July and using moisturizer
-Constant yeast infections, including colitis around the lips and throat infections
-Throbbing pain in my teeth, usually accompanied by a migraine
-Burning hot while sleeping. People have trouble sleeping next to us because we put off massive amounts of heat while we sleep, which seems to be counter intuitive as temperature should lower during sleep I believe
-Milk causes our mouths to go numb.
-I personally suffer from depression and suicidal PMDD when on birth control
-Nose bleeds constantly as children
-Constant heart burn and acidic burning sensation in our stomachs during early mornings
-Weak bones, I had a burst fracture in my lower back at age 21 and had to wear a back brace. My doctor told me it should be nearly impossible in a person my age to get a burst fracture unless someone had beat me with a baseball bat on purpose. All I did was fall on my behind while rollerblading... not even very hard. Oddly no one thought to have them test my bone density?
-Extreme joint pain... the pain level varies from day to day but I have a constant arthritic type of pain in all my joints. Also I’m extremely creaky and I can’t barely move from one position to another without my joints cracking. I sound like I’m 80... lol (again this has gone away mostly except for creakyness after a week on a low histamine diet!)
-Extreme sensitivity to alcohol... we get drunk really really fast and have a hang over for days afterwards
-Constant urination at least 10 times per day. At first I thought we might have diabetes
-Hair texture change, our hair changed texture at age 18 and became very thin and fine to the point that people comment on us losing our hair
-Constant thirst despite drinking water like a camel all day every day
-Hot flashes followed by chills
-Sneezing when exposed to sunlight or other bright lights
-Blisters on the inside of our mouths
-Recent scare with my throat nearly closing up while eating hot peppers (while trying a gluten/dairy free diet). I’ve always been fine eating those before, or at least not scared for my life, but now they make me swell up

     Every day things change...one symptom disappears and another shows up, or one problem’s severity worsens and another lessens. The level of pain is inconsistent from a day to day and moment to moment basis making us appear as illogical hypochondriacs to those around us.

     Only recently could I convince my father of how sick we are (our parents are divorced, we moved in with him later in life). I don’t complain/mention much about the pain or the blacking out to people, not even our father till now, as we’ve lived with is for so long that I thought it was just normal and that we were sickly. We had a general health work up done as children, but the doctors didn’t find anything, and from then on the excuse was that we were just delicate. So now that I’m actually thinking it may be a treatable disease people are skeptical, since we’ve just lived with it for so long. It also doesn’t help that our father has only once been physically present during a blacking out/seizure experience, so I can understand his skepticism.

    I’ve certainly noticed an increase in symptoms since college and reaching age 20 or so. My sister and I are now 24, and I’m so afraid of things getting worse, which seems to be happening with each passing months.

      We live in Gainesville, Florida, and I’m wondering where/who the nearest physician specializing in this area of medical research is. Any guidance would be greatly appreciated! We’re looking for the next step in finding out if a mast cell disorder is the cause of our problems. Thank you in advance! : )

  I don't know what testing you've done, but generally there are a few other disorders that need to be ruled out before an investigation into mast cell disorders begins.  Those include carcinoid syndrome and pheochromocytoma.  There are blood and urine tests that specifically are diagnostic for those.  If those are negative, and your doctor doesn't have any other ideas, then testing for a mast cell disorder can be done.  That would start with a tryptase test (blood test).  An allergist/ immunologist or your regular physician can order that test

You can check in the other sections of the forum to see if names are posted in your area.  One of the moderators of the forum is from near Gainesville, so she might be able to help.

  The only symptom I'll address here is the bruising.  Anemia wouldn't cause it, as far as I know, but there are other problems that would, and you should be tested to see if there's any other reason for this happening.  An internal medicine specialist might be able to check at least for platelets (which influence clotting) and hopefully for other things that could be causing it.

  I'm sure others will jump in here and give you more advice.

Thank you so much everyone! I really appreciate your guidance. I'll start right away to have my doctor do the tests you all suggested. I was also wondering if they should do a skin biopsy of our splotches as I've read that can help diagnose the cutaneous form of mastocytosis easily, though systemic is obviously much more complicated.

No worries about suggesting traveling to see a doctor either, as I suspected there were not more then 50 specialists for this disease worldwide. I guess I should have specified in my original post that I expected to not need a specialist yet till I had a diagnoses. Again thank you everyone for the info. I'll do what all of you suggested and check each lead as it were ...

Sincerely,
Cbear

Hi Lisa,

   Thank you for your concern. No worries about the self diagnoses thing. I'm very aware of the possibility of being wrong no matter how much I want to be done with searching. After all my own mother has for years had her own ideas/actual misdiagnoses from doctors about what she has, and I often thought she was wrong. People can never really even be sure that all their symptoms even come from one health issue even with a diagnoses....

   I did contact Dr. Afrin. He was very kind but basically said to look for someone locally. So as a first step I'm taking my sister to get a referral for a skin biopsy to try to diagnose cutaneous mastocytosis, as she's getting much worse with the splotches and they are itching. Soon it will be difficult for her to go out in public without it being very visible, much less if they progress into sores or anything of that nature. I figure if she has the cutaneous form diagnosed it will be easier to get a systemic diagnoses from someone else? And if they find it is something other that mast cells in her skin then what ever they diagnose it as may help lead us to a different problem?

   Thank you again for your ideas and caution. : )

Sincerely,
Cbear