Under the light of a strange moon

Long before science gave us the knowledge that the universe is populated by revolving celestial bodies, people attributed many things to the magic of the moon. A bright, shining globe traversing the sky and controlling the tides, it was blamed for all manners of catastrophe and natural disaster. The sky and all the things that live there are still frequently seen as symbols of a larger truth. My own writing is littered with examples of this.

Last night, there was a full moon, a lunar eclipse and the close passing of a comet. Even the eclipse felt unusual, a threat of darkness across a snow moon bright over Boston after a barely finished blizzard. It was a fitting end to an unusual week.

A friend who also has SM came to town for a family emergency. She had planned to stay over for one night but we had a blizzard so she stayed over for three. We hung out and played with the dog and watched documentaries. We chatted about some exploits we plan to undertake when we can collectively get our health issues to stabilize. We went to Disney World a few years ago and have always planned to travel abroad at some point.

I started trialing elemental formulas last week. So far, everything I have tasted has been vile. I can force myself to do a lot of unpleasant things but I cannot get much of it down. I am back to Orgain protein with almond milk and maple syrup. My doctor approved adding back in plain potato chips to help with getting in calories and fats so at least I don’t feel like I’m starving all the time.

Some things are improving. I’m not vomiting every day. My lower GI issues are largely the same but my bleed has slowed. I’m still tired but my stamina is increasing. I have had to step up pain management but no major reactions or anaphylaxis. I have appointments this week to determine what the next step is. I’m starting Xolair soon and am hopeful that will allow me to eat more normally.

I have spent a lot of time speculating about exactly why I got so sick so fast. Pesticides from getting spraying are a possibility. But there are lots of other possibilities, too. Stress. Overall damage to my GI tract. A sudden reaction to something I previously tolerated. A strange moon.

It is hard for me to accept that my disease doesn’t need a reason to worsen. I can do everything I am supposed to and still get sick.

Allergic to alcohol

I am allergic to alcohol. I can get away with small exposures, alcohol on my skin or my port line claves, the antiseptic coolness. Ingesting it is a different story. My last sip of alcohol was the day of my cousin’s wedding before the wedding party headed to the church. Champagne bubbled in pretty flutes that we raised to toast. I took a sip, the tiniest sip, with the bride and the other bridesmaids. As soon as the champagne hit my tongue, my entire mouth went numb. I sit it out and never drank again.

I was never a big drinker. Partly because I didn’t like the taste – I was well into adulthood before I discovered how to make drinks that I enjoyed. Partly because I was so prone to hangovers. Mostly, it was because my family has a long and sordid relationship with alcohol.

Alcohol has always been part of my life. It is the buzzing undertone to a million memories. It is the cousin that gets you in trouble, that tells lies about you that everyone believes. It looks like it belongs and by the time you realize it doesn’t, it is too late. It has hooks and claws in everyone, trapping them together and pulling them apart.

I was wary of alcohol more than any other drug because I had lived with the horrors of alcohol abuse. The screaming, fighting, slamming, breaking, volatile, relentless horror of alcohol abuse. The secrecy and the denial and the despair of alcohol abuse. It was in my home growing up. When I was a teenager, I dated a man 8 ½ years older than me who had a raging drinking problem. Friends, cousins, uncles. I knew all about the danger of being in the blast radius.

I tried to cultivate a casual drinking habit when I turned 21 but I was never very good at it. Being able to experiment and broaden my palate helped. I liked novelty beers, like Wachusett Blueberry Ale. I liked pumpkin flavored beers and hard ciders. A friend of mine was a big wine drinker so I learned about wine. I liked buttery white wines, rieslings and chardonnays. Red wine made me sick. Plum wine with Japanese food was a guilty pleasure, one of the few alcoholic beverages that I still miss. I could drink beer or wine but almost never enough to get drunk.

I liked drinks made with Kahlua, White Russians and such. Vodka only if it was mixed with something strong enough to cover the scent. Dark rum for Dark and Stormies. Amaretto and Bailey’s to mix with coffee. Mixed drinks went down much easier. I could have a couple of drinks socially but I just didn’t really want to most of the time. The few times I really indulged made me horribly sick. Puking for days, GI pain and headaches for days. I didn’t know then that I was reacting to the alcohol but it made it easier to completely stop drinking.

I am five years older than my sister but the age gap feels larger because we were further apart in school. She was always a drinker. I spent a fair amount of her teenage years tracking her down and picking her up when her friends called me. I would get calls in the middle of the night from her friends who recognized that she needed help but didn’t want to get her in trouble.

If my phone rings after midnight, I get palpitations. I spent so many nights afraid that she would drink herself to death. The fear that her drinking would kill her is still so fresh.

Last year, after several particularly nightmarish months, my sister got sober. She became heavily involved in the recovery community and went to AA meetings everyday. Her sponsor started working through the twelve steps with her almost immediately.

I met her sponsor a few months after my sister got sober. She came to my little apartment on a Wednesday, an hour or so before my nurse would arrive. We talked about the recovery process and ways for family to support alcoholics in recovery. She asked if I drank and I told her no, that I was allergic to alcohol.

“She’s allergic to alcohol, too,” she said, referring to my sister. “Both of your allergies can kill you.”

It is hard for many people to view addiction as a disease and not as a series of elected choices. But there is compelling support for the model of addiction as a neuropsychiatric disease. An imbalance of neurotransmitters, a nervous system that betrays you. One of the neurotransmitters thought to be involved in addiction pathology is histamine.

Mast cell patients are familiar with the psychiatric effects of mast cell reactions. We call it masto rage but it has a real name: mixed organic brain syndrome. This condition was first described in the mid-80’s in a patient who had a psychotic break secondary to systemic mastocytosis. When I react, I get anxious, paranoid and nasty. I perseverate. All of these symptoms have been attributed to histamine release.

Mast cells are involved in a lot of things. I don’t know that I think addiction is a mast cell driven disease but I think it’s an organic illness and not a choice. Our allergies to alcohol are different sides of the same coin. My allergy is treated with benadryl and epinephrine. Hers is treated with twelve steps and searing honesty.

Last Friday, I got to watch as my mother presented my sister with her one year chip at a meeting of her AA home group. My sister has a job she enjoys and just started night school for her MBA. She is happy.

I am allergic to alcohol. So is my sister.

Kristin's One Year

Rare disease month, day 2: CVID (Common variable immunodeficiency)

Common variable immunodeficiency (CVID) is a primary disease of the immune system characterized by inability of B cells to generate an appropriate antibody response. CVID patients demonstrate low levels of serum IgG alongside other deficiency of IgM, IgA, or both. Diagnosis is based upon both serum immunoglobulin levels; decreased vaccine response; and exclusion of any other condition that could explain these inadequacies.

As the result of an inherent inability to properly defend against infection, CVID patients results in recurrent respiratory infections, both upper and lower. Specifically, encapsulated bacteria such as S. pneumoniae and K. pneumoniae are the most frequent pathogens. Atypical organisms like Mycoplasma spp. are known to cause infections in this population. Recurrent respiratory infection can cause chronic inflammation, leading to chronic sinusitis, hearing loss, bronchiectasis, and structural damage to the lungs.

CVID patients are at increased risk of complications beyond infections. Approximately 15% of patients develop cancer. 20-25% of patients report autoimmune disease. A significant amount of CVID patients with autoimmune disease have low blood counts as a result.

CVID can lead to known complications affecting the lymphatic system. 10-25% of CVID patients develop granulomatous lymphocytic interstitial lung disease. Enlarged lymph nodes occur in approximately 20% of CVID patients. Infiltration by lymphoid cells can be found in multiple organs, including kidney and liver.

Gastrointestinal manifestations are not unusual for CVID patients and can affect any portion of the tract. Inflammatory bowel disease is common. Of note, small bowel enteropathy is well documented in this population and may resemble inflammation seen in celiac disease. CVID patients may also demonstrate nodular lymphoid hyperplasia upon biopsy.

Treatment for CVID is based upon replacing the missing antibodies through administration of intravenous or subcutaneous gammaglobulin. While gammaglobulin replacement can help significantly with immune defense, CVID patients are still at risk for progression of organ damage. Specifically, obstructive or restrictive lung disease, along with bronchiectasis, may be stemmed by gammaglobulin replacement.

For more information, please visit the Immune Deficiency Foundation.

Reference:

Tam JS, Routes JM. (2013) Common variable immunodeficiency. Am J Rhinol Allergy, 27(4), 260-265.

Rare disease month, day 1: Adrenal insufficiency (Addison’s disease)

Adrenal insufficiency is a condition defined by inadequate production of glucocorticoids. Other hormones, such as mineralocorticoids and androgens, may also be deficient. Adrenal insufficiency was first characterized by Thomas Addison in 1855. For this reason, adrenal insufficiency is often called Addison’s Disease, particularly the primary form.

Cortisol is the dominant glucocorticoid in humans and performs a wide array of essential functions. It is well known as a driver of stress response and modifies metabolic functions to lessen the impact of stress on the body. Its primary functions include increasing blood sugar, blood pressure, and heart rate; bronchodilation; and dampening immune response and inflammation. Patients with adrenal insufficiency are dependent upon replacement steroids and require them daily.

Common symptoms of adrenal insufficiency include fatigue, weakness, weight loss, low blood pressure (sometimes seen as orthostatic hypotension), anxiety, nausea, vomiting, diarrhea, sweating, and personality changes, among others. Darkening of the skin is often a clinical sign seen in primary adrenal insufficiency.

Adrenal insufficiency is life threatening and can be fatal. Prior to 1949, when synthetic cortisone became available, AI was universally fatal via adrenal crisis (also called Addisonian crisis). Adrenal crisis is the manifestation of critical cortisol deficiency. Symptoms can include fever; seizures; psychosis; severe abdominal, back and leg pain; fainting; vomiting and diarrhea; and dysregulation of electrolytes, including elevated potassium and calcium and low sodium. The only treatment for adrenal crisis is immediate corticosteroid replacement. Patients with adrenal insufficiency are recommended to always carry hydrocortisone for IM injection in the event of an emergency.

Primary adrenal insufficiency affects approximately 4.4-6 people per million. 80-90% of cases in developed countries result from autoimmune adrenalitis/ autoimmune Addison’s disease. This condition is sometimes seen as part of autoimmune polyendocrinopathy syndrome, in which several other endocrines are also impacted. Certain infections, such as histoplasmosis, coccidioiodomycosis, and tuberculosis; adrenoleukodystrophy; adrenal hyperplasia; and use of certain medications can cause primary adrenal insufficiency.

Secondary adrenal insufficiency affects approximately 150-280 people per million. It is most commonly caused by long term use of glucocorticoids which disrupts the HPA axis, the collective term for the hormonal system the body uses to regulate cortisol levels. Other causes for secondary AI include curing Cushing’s Syndrome, tumors of the hypothalamus, pituitary tumors, and trauma to or surgical removal of the pituitary. Complete cessation of glucocorticoids for up to a year is often necessary to trigger endogenous cortisol production but this cannot always be done safely. Many patients with secondary AI require replacement steroids for life.

Cortisol impacts mast cells in several ways, which have been rehashed extensively here and here.

For more information on adrenal insufficiency: http://www.nadf.us

 

Reference:

Charmandari E, et al. (2014) Adrenal insufficiency. The Lancet. (Seminar)

Flame

A few days ago, while I was walking my dog, I thought I saw my best friend’s father. He died two and a half years ago after a series of complicated health issues. I had known him for 25 years.

After not seeing him, I started thinking about the last time I saw him. It took me a while to remember when exactly that was. I thought of events we both attended, weddings, birthdays, and backyard fires on summer nights.

The last time I saw him wasn’t at an event. A few weeks before he died, I visited his daughter and walked upstairs to say hi to him and his wife before I left. It was painfully ordinary and completely unremarkable. Just another autumn day, only noteworthy in retrospect. I had no way of knowing that it was the last time I would see him.

I find myself wondering lately if today will be the last time I do something, some small thing that formed the rich backdrop of my life. I also find myself wondering how many things I did for the last time without realizing it. It’s so easy to do, such a slippery slope. One day, you’re tired and you want a break. Not a forever break, just a short break. So you decide that you won’t do these things today. Letting things go for one day is fine. And so you do. You let it go. You put it down and you never pick it back up again.

When was the last time I didn’t have abdominal pain? When I felt healthy? What were those days like? What did I feel? What animated the world around me? I can’t remember. Years from now, when I look back, I won’t remember this moment either, or the meaning of these words. I won’t even remember writing them. How can any of this matter so much when I won’t even remember?

Every patient has a line where they stand their ground to not lose anything else. Every patient decides that this position must be held for as long as possible and that once this line is crossed, you can never go back. This is how I feel about eating. This is my line. It’s not that I can’t live with a feeding tube or on IV nutrition. It’s not that I find either of these options particularly repulsive. I just want to be able to eat. Such a simple, primal thing.

I have always felt that I have this little light inside of me, really deep, beneath all the swollen and damaged places. It has been dimming for years now. I have been cupping my hands around this tiny flame to keep it alive. But I can’t keep out the wind forever. I am only one person. And I am so, so tired.

I am afraid that I am approaching the last of the days when I can eat. I am afraid that this little light will wink out and nothing will replace it.

Skinny

My body is my adversary. I hardly remember a time when that was not the case. Even before I got sick, I struggled to make my body do the things I wanted it to. You can only do that so much before you begin to resent these shells we live in.

I was a small child, very small. I wasn’t four feet tall until eighth grade. That year, I grew a foot, and never again. Throughout elementary school, people commented on how small I was and how little I weighed. I was limber and very nimble; together with my lack of height, these characteristics gave me the body of a gymnast. I did splits and back handsprings and aerial cartwheels in my living room and backyard. I threw tricks during recess. I weighed so little that very little strength was required.

In seventh grade, I acquired the body of a woman overnight. I took ballet classes at that point in a small brown building around the corner from my house. One day, I caught my reflexion in the wall mirrors. I was rounder, with thick legs, breasts and a forming hourglass figure. I was still short but I wasn’t small.

I lamented the loss of my tiny frame but I wasn’t overly concerned with toning or losing weight. I walked a lot and was active if not athletic. In 2000, I started getting a three month birth control injection. In the months that I followed, I gained 26 lbs. I went from being thicker to being fat.

I was very unhappy with my body throughout college and grad school. I worked more than full time and carried a full course load. I picked up better eating habits when I got an apartment but I didn’t have time to exercise.

In 2007, I woke up in the middle of the night and while walking across my living room carpet to the bathroom, I realized my ass was jiggling. It actually stunned me awake. The next morning, I signed up to walk the Breast Cancer 3-day, 60 miles in three days, largely for the fitness aspect of the event. For the next six months, I walked increasing distances 3-4 days a week and did short workouts on the other days. I didn’t change my diet at all except for not drinking coke. I lost 25 lbs and gained a lot of muscle.

The summer of 2007 stands out for me as a time when I was happy with my body. I was still bigger than I wanted to be, but I was actively losing weight and felt much stronger and more able. I went backpacking in Scandinavia and was on strenuous mountain hikes without trouble. I took up rock climbing. I completed the 3-day and continued with the training schedule. Over the next three years, I would walk four more 3-days.

In 2009, I lost most of my hearing. I ended up on high dose oral steroids for a few weeks and quickly gained 20 lbs. My face was squishy and I was swollen everywhere and nothing fit anymore. At the same time, my disease was also accelerating. I still walked and tried to make time for yoga class but I was in a lot of pain and often too exhausted to work out. I gained more weight. And more.

By 2012, I weighed about 165 lbs. I started doing advanced yoga several times a week and was able to lose 10 lbs in about nine months. The following year, I had my colostomy placed and lost 10 more lbs. I was stably 145 lbs until the end of 2013 when I started high dose steroids again along with several other meds known to cause fluid retention and weight gain. I gained 30 lbs in six weeks and then gained a little more. My abdomen was so swollen that I looked nine months pregnant. I had to wear maternity clothes to accommodate my belly.

Decreasing steroids took off some weight but I was still much bigger than I wanted to be. In 2015, I had another GI surgery. I again lost 10 lbs almost immediately. Following the surgery, I was able to do a reconditioning program before I returned to work in order to build up my stamina and physical tolerance for exercise. I was less inflamed than before the surgery and reacting less. I was able to address several smaller concerns that had been on the back burner like vitamin D levels. Together, these changes allowed me to recondition effectively. I could exercise again, making it easier to manage my fitness. (For those interested, I describe my reconditioning program here.)

Over the next 18 months, I lost another 10 lbs. I found long, flat muscles in places I never expected to see. Even as I cursed my body for having this disease, I was happier with how it looked. I had to buy new clothes because even my smallest clothes, saved from previous years, were too big.

Last fall, I started dropping weight, much faster than I should have been. At the same time, I was having fevers, night sweats, and a slew of other symptoms I have written about. I countered the weight loss by eating more but I eventually developed gastroparesis and started throwing everything up. I am now getting some of my calories through 2L of IV fluids daily. I am now getting most of my calories from “nutritional drinks”. (My homemade version is Orgain chocolate protein powder, organic maple syrup, and almond milk.) I am tolerating it but I can’t drink it fast without getting nauseous. I’m not getting much fat in my diet and my body is now showing that.

I took a picture of myself tonight. For the first time, I was unsettled by how I looked. I am getting very thin. I am the smallest I have been as an adult. I can certainly lose more weight before I’m in danger but it was seriously jarring to see myself. I am leaving “you don’t look sick” territory.

So here I am at 3am thinking of ways to gain back weight that I spent years trying to lose. A different kind of adversary.

 

29 Jan 2017

29 Jan 2017 2

 

 

 

The Provider Primer Series: Relevance of mast cells in common health scenarios (continued)

Reason for care Post op care
Role of mast cells Mast cells are inherently activated following surgery as they drive tissue remodeling, angiogenesis, and wound repair.[i]

Mast cells are involved in the transmission of pain stimuli.[iii]

Impact of condition on mast cells Mechanical trauma or pressure, such as dressing a wound or palpating the area, can directly induce degranulation and mast cell activation[ii].

Pain can trigger mast cell activation.[iii]

Psychological and physical stress can trigger an inflammatory response that involves mast cell activation.[iv]

Notes regarding condition treatment NSAIDS can trigger mast cell degranulation and cannot be taken by some mast cell patients.[iv]

Codeine and derivatives can trigger mast cell degranulation[v].

Vancomycin, gyrase inhibitors and cefuroxime should be avoided where possible due to risk of mast cell activation.[vi]

Amide caine anesthetics are preferred over ester caines.[vi]

ACE inhibitors and β-adrenergic receptor antagonists (beta blockers) should be avoided. In particular, beta blockers directly interfere with the action of epinephrine and can impede anaphylaxis management.[vi]

Fentanyl and fentanyl derivatives are the preferred narcotic for mast cell patients due to low risk of degranulation. Hydromorphone and oxycodone are suggested by some authors and see use in mast cell patients.[vi]

Benzodiazepines can provide anxiolytic and anticonvulsive support in mast cell patients are needed.[vi]

IV contrast poses significant to mast cell patients due to the high risk of systemic degranulation. If required, premedication is advised.[vi]

Adhesive allergy is not unusual and patients may require specific occlusive dressings, tapes, or wound glue.

Notes regarding mast cell treatment Antihistamines and mast cell stabilizers can be helpful in mitigating common post op symptoms such as opiate induced itching and nausea. COX inhibitors can help with pain management.[vii]
Special considerations for mast cell patients Mast cells are the largest reservoir of endogenous heparin. Patient should be monitored for coagulopathy.[viii]

Mast cells contribute significantly to post operative ileus.[ix]

Intestinal manipulation directly results in mast cell degranulation.[ix]

 

Reason for care Hypertension
Role of mast cells Mast cell mediators can impact blood pressure. Histamine acting on H2 receptor can promote hypertension.[xi]

Renin, chymase, and carboxypeptidase A all participate in hypertension by dysregulation of angiotensin II.[xi]

9a,11b-PGF2, the degradation product of prostaglandin D2, thromboxane A2, and leukotrienes increase blood pressure.[xi]

Impact of condition on mast cells Dysregulation of angiotensin II and renin levels can affect mast cell behavior.[x]
Notes regarding condition treatment ACE inhibitors and β-adrenergic receptor antagonists (beta blockers) should be avoided. In particular, beta blockers directly interfere with the action of epinephrine and can impede anaphylaxis management. Alternatives include calcium channel blockers, renin inhibitors, and ivabradine, among others.[vi]
Notes regarding mast cell treatment Several mast cell medications can impact levels of histamine, renin, and angiotensin II, all of which can affect blood pressure.
Special considerations for mast cell patients Mast cell patients taking β-adrenergic receptor antagonists (beta blockers) should carry a glucagon pen to increase efficacy of epinephrine in anaphylaxis.[xi]

As many as 31% of patients with mast cell disease demonstrate elevated arterial blood pressure secondary to mast cell activation. These elevations may be episodic or chronic.[xi]

Mast cell patients may also have hyperadrenergic postural orthostatic tachycardia syndrome (hyperPOTS), a condition that can cause hypertension.[xii]

 

Reason for care Heart disease
Role of mast cells Renin, chymase, and carboxypeptidase A all participate in hypertension by dysregulation of angiotensin II, contributing to evolution of arrhythmia.[xi]

Prostaglandin D2, VIP, PAF, IL-6 and nitric oxide are all vasodilating and can contribute to tachycardia.[xi]

Tryptase, histamine, PAF, IL-10, TNF, IL-4, IL-6, FGF, and TGFB can contribute to heart failure.[xi]

Mast cells participate in the formation, destabilization and rupture of atherosclerotic lesions.[xiii]

Histamine release is associated with acute coronary syndromes such as Kounis Syndrome, commonly known as “allergic MI” or “allergic angina”.[xiv]

Leukotriene C4, adrenomedullin, tryptase and chymase participate in the formation, destabilization and rupture of aneurysms.[xiii]

Impact of condition on mast cells Heart disease, especially heart failure, can disrupt release of catecholamines including norepinephrine.[xv] Norepinephrine dysregulation can impact mast cell behavior.

Dysregulation of angiotensin II and renin levels can affect mast cell behaviorx

Notes regarding condition treatment NSAIDS can trigger mast cell degranulation. Some mast cell patients are unable to take them.xx

Acetaminophen is generally recommended for use in mast cell patients.[iv]

ACE inhibitors and β-adrenergic receptor antagonists (beta blockers) should be avoided. In particular, beta blockers directly interfere with the action of epinephrine and can impede anaphylaxis management. Alternatives include calcium channel blockers, renin inhibitors, and ivabradine, among others.[vi]

Notes regarding mast cell treatment COX inhibitors are routinely taken by mast cell patients and may provide relief of prostaglandin induced symptoms.[vi]

Several mast cell medications can impact levels of histamine, renin, and angiotensin II, all of which can affect blood pressure.

Epinephrine can provoke myocardial ischemia, prolong QT interval, and exacerbate coronary vasospasm and arrhythmia.[xiv]

Special considerations for mast cell patients Over 20% of systemic mastocytosis and mast cell activation syndrome patients experience palpitations and supraventricular tachycardia.[xi]

Prostaglandin D2 can cause tachycardia. PGD2 is associated with late phase allergic response and symptoms may be delayed for several hours after allergic event.[xi]

One study showed that 12/18 mast cell activation syndrome patients showed diastolic left ventricular dysfunction.[xi]

Mast cell patients may also have postural orthostatic tachycardia syndrome (POTS), a condition that can cause blood pressure and heart rate irregularities.[xii]

 

Reason for care Chest pain
Role of mast cells Mast cells participate in the formation, destabilization and rupture of atherosclerotic lesions.[xiii]

Histamine release is associated with acute coronary syndromes such as Kounis Syndrome, commonly known as “allergic MI” or “allergic angina”.[xiv]

Leukotriene C4, adrenomedullin, tryptase and chymase participate in the formation, destabilization and rupture of aneurysms.[xiii]

Mast cells participate in esophageal inflammation in several models, including from acid reflux.[xvi]

Mast cells contribute to GI dysmotility which can cause esophageal spasms.[xvii]

Mast cells are involved in the transmission of pain stimuli.[iii]

Impact of condition on mast cells Pain can trigger mast cell activation.[iii]

Psychological and physical stress can trigger an inflammatory response that involves mast cell activation.[iv]

Notes regarding condition treatment NSAIDS can trigger mast cell degranulation. Some mast cell patients are unable to take them.xx

Acetaminophen is generally recommended for use in mast cell patients.[iv]

Fentanyl and fentanyl derivatives are the preferred narcotic for mast cell patients due to low risk of degranulation. Hydromorphone and oxycodone are suggested by some authors and see use in mast cell patients.[vi]

Benzodiazepines can provide anxiolytic and anticonvulsive support in mast cell patients are needed.[vi]

ACE inhibitors and β-adrenergic receptor antagonists (beta blockers) should be avoided. In particular, beta blockers directly interfere with the action of epinephrine and can impede anaphylaxis management. Alternatives include calcium channel blockers, renin inhibitors, and ivabradine, among others.[vi]

Notes regarding mast cell treatment COX inhibitors are routinely taken by mast cell patients and may provide relief of prostaglandin induced symptoms.[vi]
Special considerations for mast cell patients Mast cell patients may experience GI dysmotility which can cause esophageal spasms.[xviii]

Mast cell patients sometimes have eosinophilic esophagitis, causing esophageal spasms, food impaction, and pain.[xix]

Over 20% of systemic mastocytosis and mast cell activation syndrome patients experience palpitations and supraventricular tachycardia.[xi]

Prostaglandin D2 can cause tachycardia. PGD2 is associated with late phase allergic response and symptoms may be delayed for several hours after allergic event.[xi]

One study showed that 12/18 mast cell activation syndrome patients showed diastolic left ventricular dysfunction.[xi]

Mast cell patients can present with Kounis Syndrome. Management of Kounis Syndrome relies upon addressing both cardiovascular aspects of the episode as well as allergic aspects.[xiv]

Costochondritis can occur in mast cell patients and may present as chest pain.

Mast cell patients may also have postural orthostatic tachycardia syndrome (POTS), a condition that can cause blood pressure and heart rate irregularities.[xii]

IV contrast poses significant to mast cell patients due to the high risk of systemic degranulation. If required, premedication is advised.[vi]

References:

[i] Douaiher J, et al. (2014). Development of mast cells and importance of their tryptase and chymase serine proteases in inflammation and wound healing. Adv Immunol, 122, 211-252.

[ii] Zhang D, et al. (2012). Mast-cell degranulation induced by physical stimuli involves the activation of transient receptor-potential channel TRPV2. Physiol Res, 61(1), 113-124.

[iii] Chatterjea D, Martinov T. (2015). Mast cells: versatile gatekeepers of pain. Mol Immunol, 63(1),38-44.

[iv] Dewachter P, et al. (2014). Perioperative management of patients with mastocytosis. Anesthesiology, 120, 753-759.

[v] Brockow K, Bonadonna P. (2012). Drug allergy in mast cell disease. Curr Opin Allergy Clin Immunol, 12, 354-360.

[vi] Molderings GJ, et al. (2016). Pharma,ological treatment options for mast cell activation disease. Naunyn-Schmiedeberg’s Arch Pharmol, 389:671.

[vii] Molderings GJ, et al. (2011). Mast cell activation disease: a concise, practical guide to diagnostic workup and therapeutic options. J Hematol Oncol, 4(10).

[viii] Carvalhosa AB, et al. (2015). A French national survey on clotting disorders in mastocytosis. Medicine (Baltimore), 94(40).

[ix] Peters EG, et al. (2015). The contribution of mast cells to postoperative ileus in experimental and clinical studies. Neurogastroenterol Motil, 27(6), 743-749.

[x] Biscotte SM, et al. (2007). Angiotensin II mediated activation of cardiac mast cells. The FASEB Journal, 21(6).

[xi] Kolck UW, et al. (2016). Cardiovascular symptoms in patients with systemic mast cell activation disease. Translation Research, x, 1-10.

[xii] Shibao C, et al. (2005). Hyperadrenergic postural tachycardia syndrome in mast cell activation disorders. Hypertension, 45, 385-390.

[xiii] Kennedy S, et al. (2013). Mast cells and vascular diseases. Pharmacology & Therapeutics, 138, 53-65.

[xiv] Kounis NG. (2016). Kounis Syndrome: an update on epidemiology, pathogenesis, diagnosis and therapeutic management. Clin Chem Lab Med, 54(10), 1545-1559.

[xv] Florea VG, Cohn JN. (2014). The autonomic nervous system and heart failure. Circulation Research, 114, 1815-1826.

[xvi] Morganstern JA, et al. (2008). Direct evidence of mast cell participation in acute acid-induced inflammation in mice. J Pediatr Gastroenterol Nutr, 46(2), 134-138.

[xvii] De Winter BY, et al. (2012). Intestinal mast cells in gut inflammation and motility disturbances. Biochimica et Biophysica Acta – Molecular Basis of Disease, 1822(1), 66-73.

[xviii] De Winter BY, et al. (2012). Intestinal mast cells in gut inflammation and motility disturbances. Biochimica et Biophysica Acta – Molecular Basis of Disease, 1822(1), 66-73.

[xix] Nurko S, Rosen R. (2010). Esophageal dysmotility in patients with eosinophilic esophagitis. Gastrointest Endosc Clin N Am, 18(1), 73-ix.

Unto itself

It is hard to adjust to the idea of being sick. Not so much the daily activities of being sick but of identifying as sick and viewing the world through shaky, feverish lenses. But you do it because adaptation is instinctive. One day, you think, “I could get used to this.” And then you do.

It was harder for me to adjust to the idea of being very sick. Sick was manageable. Very sick is not. And I am very sick.

I took medical leave last fall. Things got out of control really fast. New complications stacked up quickly and crushed what control I still had. Every problem I ever had was worse than before and a whole bunch of new ones showed up. I slept in soaked sheets, shivering with fever dreams, waking shaky and foggy. I couldn’t keep food in the top of my GI tract and couldn’t get it out of the bottom. I took meds by the handful.

I have been sick like this before. The symptoms were different but the degree was the same. When I first applied for short term disability, I expected to return to work in six weeks. I have recovered before in shorter time. I thought if I could adjust my meds, add in some new ones, and get plenty of rest, that I could get back to baseline.

That’s not exactly what happened. Some things improved but my GI issues got worse. I suddenly had gastoparesis. I started having a lot of pain with eating, even things that were mast cell safe. I had epigastric pain on top of my normal abdominal and visceral pain. I have started having chest pains too from difficulty swallowing and food getting stuck in my esophagus. Things changed. My body changed. And my ability to handle it changed.

Around 11pm in Tuesday night, I was sitting on my couch, watching the end of a movie. I had had a completely unremarkable day. I ate normal safe food in normal safe amounts. I took my meds on time. I hadn’t done anything strenuous or upsetting.

As I was sitting there, my lower lip started to swell inside. Then my tongue. I’m not super prone to swelling and it’s not always part of my anaphylactic presentation. I went to the bathroom to inspect my mouth in the mirror. I wasn’t having any other symptoms so I swished some cromolyn and went back to my movie.

A few minutes later, my airway swelled. Things happened very quickly from that point. I was having trouble swallowing and I was producing a ton of saliva. My voice got raspy. I had hives all over my neck and chest and my blood pressure started dropping. I have epipens everywhere at home – next to my bed, on my bathroom vanity, on my desk, the kitchen table, my coffee table, my purse – and fortunately they were close enough for me to reach. I injected into my leg while on the phone with 911. My airway opened again and I used IV rescue meds while waiting for the ambulance to arrive. They transported me to the emergency department of the local hospital where I receive all my mast cell care.

I started rebounding about three hours later and needed a few more doses of IV rescue meds. I hung out overnight until I could talk to my doctors in the morning. I went home Wednesday.

I had an appointment with my mast cell GI specialist on Thursday. In news that shocks no one, my GI tract is pretty inflamed. It is swollen and so sore that even touching it causes reflexive guarding. (Reflexive guarding is when your abdominal muscles engage when you try to touch the abdominal organs because they are sore and inflamed.)

I am off food for a few weeks at least and am currently living on homemade rehydration solution and nutritional supplement drinks per my doctor’s instructions. (For mast cell patients in a similar scenario, I have ordered Orgain, which I have used in the past when I couldn’t eat. It is vegan, soy-free and organic. I have received excellent customer service from them in the past and they took my health issues very seriously. I generally try not to specifically endorse products but I think a lot of people in this scenario may be interested.) If this doesn’t calm things down, I will do elemental formula for a while, and then potentially TPN (IV nutrition).

Yesterday morning, I woke to a call from my disability caseworker “checking in” that I was going back to work on Monday. I didn’t laugh at her but it’s mostly because of how anxious these conversations make me. I informed her that I had been removed from my home on a stretcher less than two days before. I told her to call my mast cell specialist who agreed that I was looking at a months time table for returning to work, not weeks.

There was never a future for me that did not involve top to bottom GI failure. My GI tract is so dysfunctional from years of inflammation and damage that it has become a disease unto itself.

I knew this would happen. I just didn’t think it would be now.

Sick for a day

A story: Part Three

The vertebral injury healed perfectly but the underlying nerve injury didn’t. I developed an inversion of my right foot that persisted for eight years before it was remedied. The foot always inverted but it wasn’t always severe. There were times when I could get my heel flat and walk “normally” but it took effort.

The inconsistency in my gait generated a lot of doubt from medical professionals. I was accused of drug seeking a number of times which was especially funny because I couldn’t swallow pills until I was 19 and avoided medication at all costs. Walking with a limp most of the time gave me pain in the ankle, knee, hip and back. It impeded my ability to do most forms of vigorous exercise although I did continue to walk a lot, even when it hurt.

When I was 16, I saw a doctor who was so insistent that I was lying about my foot inversion that he told me I was taking time from real sick people and should be ashamed of myself. It’s bad enough having something wrong with your body without being told over and over again that there’s nothing wrong and you are a waste of space. I walked out of the office and didn’t pursue medical attention again for years.

Continuing the theme of never having been particularly healthy, I was not particularly healthy in college. This was probably exacerbated by not getting enough rest. I was always coming down with a cold or some awful cough. I started having GI issues in earnest with significant bile reflux into the esophagus and a hard time stooling.

I started college at 16 and full time at 17. My family didn’t have money to put me through school so I worked full time throughout college to pay tuition and living expenses. I worked 30-35 hours a week most weeks while also carrying a full course load of hard sciences with labs. I was in the honors program and worked in a lab my junior and senior years to complete my honors thesis. Throughout college, I stopped sleeping on Tuesday and Thursday nights to get through my schoolwork.

I worked in health care so I was exposed to a lot. I worked as an assistant for an 87 year old doctor in Cambridge where assistant meant performing basic bloodwork and urine testing, typing notes on a typewriter, sterilizing all of our reusable equipment, cleaning up mercury from broken thermometers, and generally learning a ton of really interesting things. This doctor was very out of touch with current medicine but one of the best diagnosticians I have ever come across. A lot of my instincts in identifying problems, both health related and otherwise, come from working for him. I learned so much from him and loved working there so much that I didn’t even mind that he referred to me as “girl” or “the girl” and hand wrote my paystubs.

He died two years after I started working there. I was already also working in a pharmacy and picked up more hours there when I was no longer needed at the office. I spent 30 hours a week interacting with sick people, many of whom were contagious. Given how overextended I was, and that getting ill is expected when exposed to contagious people, it was not surprising that it took so long for me to realize that some of my symptoms could not be attributed to my lifestyle and environment.

I finally saw a movement disorders specialist when I was in college to try and correct my pronounced limp. It had gotten bad enough over the years that I usually walked with a crutch. I gained weight from birth control (I gained 26 lbs in short order when I started the birth control shot), the fact that I didn’t exercise beyond being on my feet 10 hours a day in the pharmacy or lab, and a diet that consisted mostly of Coke and Easy Mac. Gaining weight with a back injury is never a good thing.

I got physical therapy for my foot and slept with a brace on for several months to correct the inversion. It was painful and obnoxious but it worked. While my foot still “wants” to invert, I can walk with it flat without trouble. If there’s not pressure on the bottom of the foot (if I’m sitting or laying down mostly), the foot still turns in. If I’m too tired to pay attention, or experiencing a lot of physical stress (after surgery, bad anaphylaxis, etc), the inversion is evident again.

I was in grad school when I started having GI issues bad enough to seek specialized medical care. I had really bad chest pain and my throat was always irritated. I did a bunch of testing, barium swallows, scopes, esophageal manometry, and pH testing, which at the time involved threading an NG tube with a pH sensor into my stomach through my nose and then leaving in place for 24 hours. The first time, they used the wrong sensor, so I had to do it again. I started taking regular meds at that point, including a PPI and a smooth muscle relaxer to decrease spasms pushing bile into the esophagus.

This period in my healthcare was critical for a different reason: this was one of the first doctors to treat me like an intelligent, capable person with health problems. While this gastroenterologist didn’t know what was wrong with me on a global level, she agreed that something was going on and that I wasn’t inventing my symptoms. I was only her patient for a few years but I will forever be grateful to her. Her support helped give me the gumption to figure out what was really going on in the years to come.

A story: Part Two

I was never particularly healthy. I had bad asthma as a kid, pneumonia, strep. Scarlet fever several times, my first experience with the slapped red hotness of my cheeks. I had my tonsils removed when I was 7 but they eventually grew back. I was always tired. I always had trouble waking up. Nothing terrible but I was sick often.

I was also accident prone, which figures largely into this story. I wasn’t so much klutzy as in a hurry, always. I cracked the radial head in my elbow sledding when I was in seventh grade. I broke my wrist slipping when I got out of the shower. I broke the same wrist in the same place the following year when I slipped on ice and fell onto my outstretched hand. Again, nothing awful, but frequent.

By far the most important accident was fracturing both my L3 and L4 vertebrae when I was 13. I was working in a charity haunted house called the Haunted Dungeon. Some of you may remember that I have some spooky sensibilities; the Dungeon nestled into that niche perfectly. It was in an abandoned war fort called Ft. Kellogg although we called it Ft. Banks for some reason I don’t know. Every night in October, we gave tours through the underground bunker, each room elaborately planned to scare visitors. It was a blast.

The interior of the fort was concrete and perpetually damp. It was poorly lit and there were thin gutters along the walls. One night, I had run out to use the bathroom while there was a short lapse between tours. As I was coming back to my designated room, I saw a group approaching from the other direction. I was wearing a long black dress with a long black cloak and combat boots. When I started running toward the room to get there in time, I stepped into the gutter by accident. I was wearing boots and my foot got stuck. I fell hard. I was really jarred but able to jump up and get back to the room. I had no idea that I had injured my back.

I eventually saw an orthopedist because my right leg still hurt a few weeks later. He remarked on my hypermobility. My IT band, a thick length of fascia that sits on top of the hip bone, snapped back and forth over my hip bone when I walked. This was not from the fall. It happened in both legs and had for as long as I could remember. The working theory was that the fall had irritated my IT band further. I got cortisone injections and crutches. No one even took an x-ray.

I was a freshman in high school when this happened. By the time January rolled around, I was having pain, weakness and numbness in both legs. Again, the prevailing theory was that I had inflamed my pre-existing IT band issues and also that I was exaggerating and overdramatic. In April of 1998, I sat down in my high school drama class and could not stand back up. I could feel my legs somewhat but I couldn’t really move them. I sat on the auditorium and just couldn’t move.

There is no humiliation like the kind you endure in high school when you are in a compromising position in front of a bunch of your peers, many of whom make fun of you. As soon as I realized that I couldn’t get up, I knew half of my classmates wouldn’t believe that what was happening to me was real. For those first few moments, I was legitimately more afraid of being embarrassed than of being paralyzed.

I ended up at Large Famous Pediatric Teaching Hospital where I was evaluated by a doctor who thought I was inventing my symptoms and recommended I be committed for conversion reaction disorder. The next day, I saw some other doctors who thought I was inventing my symptoms and recommended I be committed for conversion reaction disorder. One resident had the presence of mind to order some imaging since not a single picture had been taken in the six months since my injury.

Over the following few days, my symptoms fluctuated during throughout the day. I had some movement sometimes, more so at night. I was taking enough naproxen to burn a hole in my stomach. After five days, I woke up in the middle of the night and had to pee. I got out of bed and walked down the stairs into the bathroom while half asleep. I still had numbness, pain and weakness but it was much improved.

This occurrence added a new dimension to the situation: that my parents didn’t know if I had actually had a medical issue or if I was just a maladjusted teenager acting out. Not only did I have major, real mobility issues, but almost everyone related to the situation thought I was full of shit.

The following day, I had my previously scheduled MRI at Large Famous Pediatric Teaching Hospital. The MRI showed that I had crunched my L3 and L4 vertebrae together with enough force that bone fragments broke off and were floating in the space between the vertebrae. The fragments inflamed the surrounding structures and a large ball of fluid had accumulated around the fragments. The fluid compressed the root nerves which bifurcated at the site of the injury before running down into my legs.

If they had performed imaging when I first injured myself, it would have been easily seen. I would have been on bed rest for 4-6 weeks and then gradually worked back up to my normal life. Instead I was 14 years old with partial paralysis and permanent nerve damage in my right leg that still kicks up 19 years later.

The MRI was hard evidence that I did in fact have an injury, a serious one, which perfectly correlated with my symptoms. Taking so much naproxen probably decreased the fluid around the fragments, relieving some pressure on the spine and returning some function.

But there was still a conversation about whether or not I actually had anything physically wrong with me or if it were psychological, a conversation I wasn’t supposed to hear. I will never forget the way I felt overhearing that. I was suddenly freezing to the point that I had to stop my teeth from chattering.

At the ripe age of 14, I had discovered the defining tenet of my health story: that no one would believe me by default. If I wanted help to manage my health concerns, I would have to convince every last person that I met that I really did have organic health problems and that I wasn’t making them up.