Autoimmune Disease?

After being rejected by the MCAS specialist at Rush, I decided to ask my support groups again for recommendations of doctors that might be able to help with diagnosis and treatment. I made an appointment (with a strong push from my brother) with a local allergy/immunology doctor that apparently does not necessarily diagnose MCAS, but does treat a few patients for it.

She was very local, and I had no problem getting an appointment with her. So, I saw her Thursday this week.

In order to make sure I presented my case well, my brother and my husband helped me put together a medical and allergy history for the appointment. This is something I probably wouldn't have had trouble doing in the past, but thinking clearly is not my strong suit anymore.

So, this is the history I put together. I keep thinking of things I missed, so it's not totally comprehensive, but I can keep adding to it, as needed.

Medical and Sensitivity Chronology

Summary and Current State

Significant and progressively worsening symptoms throughout my life

• Diet is restricted to about 15 foods.
• Unable to tolerate any scented products, cooking smells, and most medications.
• Frequent symptoms of a reaction include: burning sensation throughout my torso, sudden and intense migraine, sinus pressure, excessive mucous, trigeminal pain, pounding heart, agitation and restlessness, insomnia, increased heart rate and/or blood pressure, sometimes hypotension/bradycardia, vertigo, increased GI motility, bladder pain, facial burning. Most reactions last 3-5 days.
• In between reactive episodes, I have low blood pressure, low heart rate, low energy, almost non-existent anxiety, constipation, and 10 hours of deep sleep a night. During episodes, I have either low or high BP and HR, excess energy, sometimes seeming manic, increased motility, and 5 hours of restless sleep.
• Nearly every week I develop a new sensitivity. I'm running out of foods and medicines that I can tolerate. I currently can't tolerate my own apartment, due to old carpeting, brewing coffee, and cooking smells. I stay at my mom's house, and often have to retreat to the bedroom to avoid a trigger. We are unable to cook in the house. I am very isolated, and haven't seen my friends or much of my family in almost a year.
• Progression has been accelerating recently, and symptoms are often constant at this point, making it hard to identify new triggers.
• My overall condition has deteriorated, including hair loss and weight loss (BMI 17.8)

Infancy

Allergy to breast milk and dairy formula—projectile vomiting, bright red face, excessive mucous

Childhood

Allergies (all skin test positive) to cats, dogs, grass, trees, dust, mold, mildew—hayfever, runny/stuffy nose, itchy eyes/nose/ears/throat

Teens

Severe allergy to cigarette smoke and other smoke—deep cough, difficult breathing, tight throat, sometimes passing out from lack of air (inhalers didn't help, epi shot did). This was never officially diagnosed as anaphylaxis.

Excessive fatigue, nausea, headaches, narcolepsy, body aches, GERD, IBS

Adulthood

Age 18

Tonsillectomy—reaction to Compazine—dystonic reaction: dislocated jaw, stroke-like symptoms; resolved with Benadryl

Chiari surgery—temporary improvement, but then developed POTS—hypotension, tachycardia, passing out, “reduced consciousness spells”

Age 20: Cranio-Cervical Fusion surgery—Condition worsened after, developed symptoms of EDS

Early 20s

Allergic symptoms became more bothersome, repeat allergy skin testing, but came up negative to everything.

Age 24: Spinal cord detethering surgery and cholecystectomy

Age 26: Fusion Reconstruction; Official diagnosis of hypermobile EDS

Age 29 (2013): Repeat Fusion Reconstruction (2013)

This surgery had multiple immediate complications: bilateral corneal abrasions, difficult intubation with significant inflammation and prolonged sedation, extended periods of unconsciousness, intolerance to most post-op medications.

• Developed severe insomnia, after years of hypersomnia
• Developed Inappropriate Sinus Tachycardia, POTS worsened- which was later switched to a diagnosis of Hyperadrenergic POTS
• Lifelong IBS worsened: constipation, severe bloating, abdominal pain, occasional episodes of diarrhea
• Developed chronic migraines—failed many treatments over the next 3 years.

Allergy symptoms got progressively worse

• Started noticing worsened chemical sensitivities
• Developed a reaction to Dawn dish detergents and spray air fresheners: causing widespread itching, runny nose, itchy skin.
• Allergic response to dogs became more severe, although allergy testing was negative.

Allergy testing results

• Rast blood testing showed no allergies.

Age 30 (2014)

Allergy symptoms

• Major reaction to hardwood floor varnish and excessive heat in new apartment that led to eventually having to move. Symptoms included: full body itching and flushing, tachycardia, palpitations, wheezing, repeated syncopal episodes, intense facial pain, deep cough and feeling of throat closing, blue lips, feeling of doom, and urgent diarrhea. I was eventually carried out of the building, unconscious.

• Developed severe, intractable facial pain after the varnish episode—triggered by fragrances, smoke, weather
• Full body pruritus with significant agitation and insomnia became severe.
• H1 and H2 Blockers plus Singulair helped with the severe itching and hayfever symptoms.

Allergy tests

• Late 2014, saw Dr. Kentor (allergist) for Mcas testing: Mcas was suggested by my geneticist and my POTS specialist. Tests that were run at the time: Serum tryptase (3.1 ng/mL) and urine 5-HIAA (3.6 mg/24h)

Age 31 (2015):

Allergy symptoms

• After developing severe itching, bladder pain, runny nose, and agitation after certain meals, a low histamine diet also became essential to control these symptoms.
• All other sensitivities progressed.

Age 32-33 (2016-Present):

Events

• In June 2016, I was hospitalized for status migrainosus. Treatments (steroids, Toradol, Zofran, DHE) triggered a major reaction: hypertension, tachycardia, severe internal burning, twitching, agitation, panic. Severe headache/facial pain persisted for 6 weeks, and has returned often since then, almost always triggered by a chemical exposure or a weather change.

Treatments

• Started Nasalcrom and Gastrocrom in early 2016, but chemical sensitivities continued to progress.
• Currently taking: Zantac 2-3x/day, Zyrtec, Xyzal, Hydroxyzine, and Gastrocrom for mast cells. Midodrine/Clonidine as needed for dysautonomia. Klonopin and Ambien for insomnia.

Symptoms - Current State

• Ever since the 2016 hospital stay, I've developed the internal and/or facial burning, agitation, pounding heart reaction to more and more medications: Cymbalta, Nsaids, Prevacid, Nexium, triptans, Tylenol, Sudafed, Vitamin B2, probiotics, and magnesium. I have had to discontinue all of them. I suspect that I am reacting to some of my current medications, as well.
• After certain foods or smells, I get the reaction of hypotension, bradycardia, white lips, reduced consciousness.
• A sudden fragrance can cause me to pass out.
• A carbon filter mask used to reduce reactions to scents, but doesn't help anymore.
• December 2016, after cold turkey Cymbalta withdrawal, I became so sensitive to everything that I had to remain housebound. I also had to quit teaching piano lessons.
• Reactions have been increasing in frequency and severity to a larger number of triggers and smaller exposures.
• In February, 2017, I started developing severe reactions to cooking smells, coffee brewing, and any scent. Even reheating many dishes in the microwave causes: sudden, intense migraine, sinus pressure, and trigeminal pain, pounding heart, agitation, insomnia, increased heart rate and blood pressure, vertigo, increased GI motility, facial burning, internal burning sensation (mostly in my torso- but not related to acid). This reaction lasts 3-5 days.
• A single mosquito bite leads to hives, widespread itching, and restlessness/insomnia for a week.
• Exposure to bleach leads to itchy nose, chin, throat, excessive phlegm, wheezing cough, facial pain, hives.
• Any type of tea causes a hive outbreak.
• My current medication regimen reduces itching and hayfever reactions, prevents hives, reduces swelling of eyes and lips.
• My head, body and especially facial pain reaches a 6 most days, and some days reaches an 8 or 9, but I am unable to tolerate a single medication to relieve pain or migraine anymore.

Diagnoses

• Chiari Malformation--Repaired surgically
• Cranio-Cervical Instability/Cranial Settling/Retroflexed odontoid/Basilar Invagination--Repaired surgically
• Occult Tethered Spinal Cord--Repaired surgically
• Gallbladder disease--Repaired surgically
• Ehlers Danlos Syndrome - Hypermobility type
• Dysautonomia
• POTS with Hyperadrenergic episodes
• Osteopenia
• History of serotonin toxicity
• Irritable Bowel Syndrome
• Gastroesophageal Reflux Disease
• Raynaud’s Phenomenon
• Chronic Migraines
• Chemical Sensitivities
• Chronic Dehydration
• Chronic trigeminal pain/atypical facial pain

*********************************************************************************

So, armed with this 3 page document, summarizing my miseries, I went to meet Dr. Sullivan. (I was also armed with my respirator. Even though I was reassured that this was a fragrance-free office, and that the staff would be unscented, I correctly assumed that would not be true.)

We were in the office for 4 hours. I was in immense pain from fragrances. I collapsed and nearly passed out after a standing pulmonary function test. I did not agree to have skin testing done for allergies, because I have already had negative skin testing done in the past, and I don't believe IgE allergies are my problem.

This led to a lot of waiting time. But, we explained much of my story to a nurse, and gave her my medical history document. She passed it along to the PA, who came in and went through more details of my history. The PA discussed my case with the doctor. The doctor read over the document. Then finally, the doctor came in.

She didn't have a lot of questions left for me. She mostly had a prepared speech to give me. But the first thing she said was, "You've come to the right place."

That was obviously very reassuring to hear. But having been through my fair share of overly-confident doctors, I made sure to keep my guard up. (I have to protect myself from getting crushed!)

Next, she basically went through a presentation for me on autoimmune diseases. She didn't actually use the phrase "autoimmune disease," but described a state of immune dysfunction. She certainly believes this is responsible for most of my problems.

She does not like my long list of syndromes. She'd rather I say that I have headaches than migraines (although I certainly believe that I have both!) She'd rather say I have joint problems than EDS (which seems to be a major lack of understanding of connective tissue disorders). She doesn't love POTS as a diagnosis either.

The reason for her distaste for all of these separate labels seems to be her belief that an immune dysfunction is underlying the vast majority of these syndromes.

She also really doesn't want me to get hung up on the "mast cell activation syndrome" label. Although, she does agree that mast cell degranulation may be responsible for many of my symptoms. She thinks the degranulation is a result of the immune dysfunction.

I believe she is trying a more holistic approach, rather than just focusing on mast cells.

So, she first went through this pamphlet with me, listing all of the triggers and irritants that could be upsetting my immune system. This list included:

• Allergens--She doesn't think this is a major component for me.
• Chemical irritants--I am already avoiding everything on this list, out of necessity.
• Changing weather conditions--Unavoidable, but she suggests that I move south and to the coast.
• Infections--Not a frequent issue for me, although there could be some chronic, low-grade infection
• Strenuous exercise--I am already avoiding this.
• Reflux disease--I am already treating this, as well as following diet/lifestyle recommendations.
• Medications--She would like me to avoid NSAIDs and beta blockers (already doing).
• Food--Mainly, she recommends avoiding MSG, sulfites, and preservatives. With my diet though, she hopes we'll be able to expand rather than restrict.
• Emotional anxiety--I have no work or social life to worry about, so all I can do is manage my anxiety about my health.
• Hormones--She doesn't believe this is a factor for me anymore, since I have been on continuous birth control to keep my levels steady for 5+ years.

So, for the most part, I'm already following the lifestyle recommendations. Unless I feel like moving to the beach in southern Florida, Arizona, or California, I can't change much. (I told her I can't tolerate the heat, but she reassured me that I will be able to in the future.)

But she does seem to have a plan of action. I will be seeing her every two weeks, and making small changes at each appointment. She has very high hopes for me, and believes that I will be feeling significantly better in just a few months. I am, as always, hesitant to get too hopeful about any treatment, but I'm willing to follow the plan, as long as it doesn't make my life significantly more miserable.

She did a ton of bloodwork, but didn't tell me specifically what was being tested, so I'll have to report back on this one.

She wants me to get back on Vitamin D, which I discontinued along with all of my other supplements after things flared up. She wants 4000 IU daily, in tablet form (not gelcaps)

She wants me to continue Singulair, and says that we may double the dose at the next appointment. This is a Leukotriene blocker, and she says it can reduce inflammation throughout the body, although it is marketed as an asthma medicine. I've been on it for 2 years already.

She wants me to drastically reduce my anti-histamine usage. She believes some of my daily symptoms, including random bouts of anxiety, are side effects of too much anti-histamines. This one is difficult, because I am soooo itchy without them, but I'm making my best effort.

Next, she wanted me to add Culturelle Health & Wellness. She was very impressed that I was aware that this one is a better choice, because it doesn't contain inulin, which is a prebiotic. I have been on probiotics for several years, and I have tried this one before. But I had actually been planning on trying it again. I even bought a box of it just a week ago, so I was glad to see we agreed on this one.

Next, she would like me to decrease my dosage of Prilosec. This is unfortunate, because after my body could no longer tolerate Prevacid or Nexium, I finally found that I could tolerate the prescription strength Prilosec. I also went 3 months (November-February) without any drug in this class. The heartburn was absolutely miserable. And I didn't get to tell her this, but my grandma died of esophageal cancer, so heartburn is not something to take lightly in my family! Also, both of my parents and one of my brothers need a PPI to control the GERD. I've tried going without before, but it seems to always come back. I understand that it is not good to use long-term. But, it feels unavoidable. I am glad that she is trying to ween me down, and I will try my best to cut my dose in half, and see if it is tolerable. I just know that lifestyle measures may not be enough with such weak connective tissue in my gut. Maybe if I switched to an all liquid diet? But if I'm eating solids, I'm not sure it will be possible, since her plan is to get me off of them completely again.

Finally, she recommended Vanicream products for skin care. I already use their shampoo, but I will try switching for my face to see if it can clear up the rash I always have on my cheeks.

She was running short on time, and talking very quickly with few pauses. So, I couldn't add much or ask many questions. I hope this will be better next time I see her.

I don't know if she really understands that my EDS makes me a medical zebra. That I may not react as expected to changes. And that simply putting me on the autoimmune protocol she uses with her patients may not be practical. But I really appreciate that she wants to change things gradually, since my body can't handle big changes.

It sounds like she has a lot more in mind to change at upcoming appointments. And of course, we'll have to see if anything shows up on the blood work. I'm so used to blood tests coming up perfectly normal that I never expect much from them. But who knows what she tested for? Maybe something that hasn't been checked before. Maybe, this whole time, I've had some autoimmune disease driving my symptoms. I'm certain I've been tested before for most things, but not everything.

Believe it or not, I actually liked her. I really did. I am very careful to not get my hopes up when someone says they can change my life. Because even as things have evolved over the years, this has always been my life. Sickness and downward progression. I don't love the over-confidence. But it is actually reassuring to hear a little bit of it. And it's really nice that someone wants to manage things, when most doctors seem to just shrug and turn me away at this point.

But, I am absolutely dreading going back into the office. My facial pain is so severe since the appointment. How can you make yourself walk into an office with a level 3 pain, knowing you'll come out with a level 8? I did it once, but every two weeks? I don't know how to force myself to do it. It is just so much suffering. I assume my next appointments will be shorter, but I don't know what can be done to expose me to less fragrance. I guess I wear the respirator the entire time, even when I don't smell a strong scent. But the respirator itself irritates my facial pain. I can call again, but they've already reassured me that they do all they can to reduce fragrances. I guess since my throat doesn't close up, my reaction isn't significant. But it is to me. I still feel like I was run over by a bus since the appointment. And my face is so sore and tender.

Somehow, I'll have to make myself, because she is the only person trying to help me right now. I don't know if I'm hoping for an underlying autoimmune disease or not. I'm not sure how treatable most of them are. But it would least open up a few untried treatment options.

In the meantime, I'm back to living the unsettled lifestyle. Weekdays at mom's house, weekends at home. I think it spreads the misery around a bit. My husband can brew coffee and work late without feeling guilty during the week. My mom can do some cooking and baking during the weekends. It seems to be the best way to manage for now. I can't seem to tolerate staying in our apartment for more than a few days, for whatever reason (I do best when the window can be left open, if the outdoor air is clean.) The back and forth is pretty exhausting. The amount of stuff I have to bring with me is ridiculous! My food and Wilma's food. Mattress toppers and pillows. A big suitcase. Lots of medicine. Exercise equipment. Wilma, too! Wilma, by the way, is doing awesome. Almost 12 (estimated) years old. And as long as she has her prescription dog food plus some potatoes to keep her bowels regular, she's a healthy girl. She is still pretty miserable around my husband, due to her fear. That hasn't really improved at all. But she loves staying at mom's house with her cousins (Dexter and Lexie!).

Also, for two months now, I've been working through the physical therapy protocol in the EDS handbook. I've been progressing pretty slowly, which is recommended with EDS and widespread joint instability/weakness. So, the exercises don't look like much. They are working to stabilize my pelvis and lumbar spine. I believe they are helping, as I have less pain in my sacrum, and I can sometimes sit in a regular chair without a coccyx cushion. I just look forward to when I can work more on leg strength, knee stabilization, and shoulder stabilization. And of course, when I can reincorporate some cardio. But I'm following the program, and this is the recommended order of joint stabilization.

Apparently, I wrote a term paper today. I seem to be a bit manic, so you got the long-winded version. Sorry for taking up so much of your time. Thank you so much to those that support me and those that are following my progress.