The Unholiday; or, Rare Disease Day

I have multiple rare diseases. I have been living as a rare patient since January 2012 when I was initially diagnosed with mast cell disease. I have collected some other rare diseases for my menagerie in the years since: adrenal insufficiency; Ehlers Danlos Syndrome, hypermobility type; Postural Orthostatic Tachycardia Syndrome; and mixed connective tissue disease with features of lupus and rheumatoid arthritis.

February is Rare Disease Month and the last day of February is Rare Disease Day. MastAttack originated as a exercise in educating people about mast cell disease with daily facts for Rare Disease Month. Over time, I moved those facts from my Facebook page to a blog. That blog evolved into the MastAttack you are currently experiencing.

I have planned for the last few years to do a daily posts in February with each post discussing a different rare disease that affects some mast cell patients. The fact that I was only able to get up two posts (and not even on consecutive days) is a pretty good symbol for what it is like to be a rare disease patient.

Despite recognizing its importance, I feel conflicted about Rare Disease Month. It’s not the visibility that bothers me because I committed to living my life very loudly years ago to empower myself and others in the mast cell community. It’s the transience of the focus. In February, people are inundated with stories about living and dying with rare disease. But on March 1, I’m still going to be here, with these diseases, and friends with these diseases, and the fear and uncertainty that goes with them.

This is not a celebration. We are not celebrating rare disease or even rare disease patients. This is a protest. A march. An event to record that we were here. A memorial, to remember those rare disease patients we lost this past year and all the years before. And a prayer, a deep and primal hope given to the universe that there will someday be a world in which there is no need for a Rare Disease Day.

Thank you for reading our stories this month. Thank you for learning about our diseases and our lives.

Remember us after today. Remember us every day.

The silence and the void

I am struggling a lot with grief lately. As it has become increasingly apparent that my life and my body will never be the way they were before, I have thought a lot about what that means. How they are different. If I can live with it. I think few things cause as much personal revelation as grief. Every fear is amplified. Every dream is farther away.

I had such a firm idea of who I wanted to be. I knew exactly. I wanted to be a doctor and travel around the world. I wanted to get married and have kids. I wanted to treat infectious diseases. I wanted to live in twelve countries for a month each to live abroad for a year. I wanted to buy a little house and paint it purple. I wanted to have a home where every shelf was low enough that I could reach it without standing on something. I wanted to be happy. I wanted a quiet little life with a rewarding career and children. I knew the life I wanted. I loved that little life.

You do not naturally love the things that populate the set of your life. You do not love sitting on the couch. You do not love drinking water. You do not love walking your dog. You do not like to breathe. You do not love every moment when your throat isn’t swelling. The moment you begin to love these things marks a fundamental change. It happens when you glimpse a life beyond the veil, a life where you can’t take out your own trash or drive or clean your apartment. Everything you do is imbued with a frantic appreciation. You come to love these things but you wish you didn’t have to.

I really loved my life. It was beautiful. It was warm and full of possibility. I wasn’t grateful for breathing or waking up to an alarm clock because I didn’t have to be. I could never have imagined how bad things would get and how hard it would be to become a different person with different goals and different dreams.

It has taken me years to build a new life. Nothing beautiful is easily repaired. There is beauty still but it is deeper and less obvious. It is not the excitement for the future. It is not the having of things and opportunities. It is the rare moments when you aren’t struggling. When things are wrong but not more than usual. When the pain is managed. It is the kind of beauty you can only find when everything around you is burning. Beauty is nothing. It is a feeling. It is silence and a heartbreaking void where you can rest for a little while.

I am trialing a new biologic tomorrow in the hope that it will help me to eat again. I am scared that it won’t work. I am scared because I don’t think I can live like this. I am tired.

There is still beauty in my life. It is just harder to find it when every minute is a struggle.

Choosing the sun

I don’t handle change well. I have never liked it. A few years ago, I bought a little piece of wall décor that says “Embrace change.” It hangs next to my bathroom sink. Whenever I stand in front of the sink, I catch myself shaking my head as I read it. I keep it up mostly for irony.

My body doesn’t handle change well either. Lately, it is doing things that it has never done for reasons I can’t determine. Last night, my face swelled as I was reading on my couch. I didn’t have any other symptoms and still don’t know why it happened. I sat up for hours, compulsively poking my face and trying to determine if other parts of my body were swelling, while trying not to panic and induce symptoms that could be confused for anaphylaxis.

I’m starting to realize that I’m not having a bad episode that will resolve and return me to my previous baseline. This is different. I am different. My body and my disease are evolving. Whatever baseline I arrive at will be different from before. I can’t wait this out because it’s not going to end. I will stabilize but I will not be the same. My body will not be the same and my life will not be the same.

So it’s time to stop waiting for this to end. I have to learn how to live my life like this. I have to learn how to fit all the things I love and that bring me joy into this smaller space. I have to find a way to get light in here again because this darkness is suffocating. It has swallowed so many things.

I have spent a lot of time staring into this darkness in the last few months. Some of it with an audience, rehashing it for paramedics and ER doctors, mulling it over with my care team. Most of it alone, in moments when I can’t breathe, suddenly struck by the fact that this disease will almost certainly kill me.

But there are bright spots, even if they seem farther away as the arc of my life grows longer. Good days and moments of joy and traveling. Touching the Great Wall of China. Eating Reuben sandwiches. Walking 60 miles in three days. Encouraging words. Hugs. Seattle. Roller coasters. Kindness. Alone these moments are just tiny flecks of light, but you can gather them. If you string them all together, you can make a tiny sun.

It was really warm in Boston this week, almost 70 degrees Thursday and Friday. I packed up my infusion pump and meds and supplies and walked to the beach with Astoria as I infused IV fluids. I sat in the shade at the beach wall as she ran around, flailing around in the sand and playing with her ball. We walked slowly. We didn’t stay very long. But we got there.

The sun only grows if you feed it. Otherwise, those moments are just holes in the dark.

This is my life now. I am learning how to enjoy it. I am choosing the sun.

Wellness

I do yoga everyday. It is the form of exercise most suited to both my limitations and my needs. I suppose also well suited to my personality. On days when I feel strong, it lets me balance on my hands and fly through the air. It lets me draw my legs up from my core and see the world upside down. On days when I don’t feel strong, I lay my weight into various muscles, stretching them back to their right shape. It lets me think it’s exercise even when all I can do is sit on the mat and breathe. An achievement instead of survival.

On Thursday afternoon, while waiting to check in for my appointment with my mast cell GI specialist, I had anaphylaxis. I was standing and wasn’t immediately sure if it was anaphylaxis or POTS because they both start with a fuzzy lightheadedness. I sat down on the floor and within a few minutes, it became obvious that this was definitely anaphylaxis.

I told one of the admins that I was having anaphylaxis, took a few steps into the bathroom, lay down on the floor and used an epipen. They called a code team and very quickly there were a lot of people. I drew up and pushed some IV meds. I was already infusing IV fluids. They took me to the ER where I stayed for several hours to be sure I wouldn’t rebound or have a biphasic reaction.

The resident asked if I knew what the trigger was for the anaphylaxis. “I think standing up,” I said. It was funny in the way that terrifying things are sometimes funny.

My body is so different now. In every way, it seems. I buy new clothes online because everything I own is too loose or ill fitting. As I put them on, I find all these sharp places beneath my skin, angles where there used to be a softness. The layer of fat over my muscles has thinned considerably. It has the strange effect of making me look stronger and more toned when really I am just unhealthy.

I write constantly and so I always have a journal in reach. I was recently looking through previous entries for something. I was struck by how often I speak of my past self in the third person. I talk about myself like a character. Like I’m the narrator in a story that doesn’t involve me.

I say that I am a different person now because it’s easier to believe that the person I was then could never become the one I am now. It is easier to think that this person is entirely separate for a lot of reasons but mostly so that she could never decay like this. It is much harder to accept that I was that person that did all those things and that I am still that person and never will again.

The days are getting longer and warmer. My mind is working better. My body is well enough to be out of the hospital. I can’t keep down much elemental formula but can get down some nutritional drinks and plain potato chips. I am starting to make plans for later this year that I believe could be realistic.

Every day, I roll out my purple mat. Today I can only do a little and tomorrow I will only do a little but one day, I will be strong enough again to fly.

 

Wellness

 

(PS: Hypermobility much?)

Reintroduction of food to a child with SM

I recently put together some recommendations on reintroducing foods to a child with SM who has been exclusively on IV nutrition (TPN) for an extended period of time. I thought you might find some use in it so I have posted it here.

Before people ask, there are no significant publications on children with MCAS because there are not currently unifying diagnostic criteria.

****

Author’s note: I am not a medical doctor. Protocols for reintroducing foods must be developed by the managing care team and tailored to each patient.

There are no large population studies for pediatric systemic mastocytosis. True systemic mastocytosis (in which WHO diagnostic criteria are satisfied) is rare in children. Accordingly, SM in children is generally reported as case reports rather than studies given the population size[i].

Given the lack of in depth literature specifically regarding food challenge in children with SM, I would draw from data in similar situations to identify a safe and appropriate protocol for reintroducing for [name redacted].

There are five scenarios that may contribute insight for food reintroduction in this patient: oral food challenges for FPIES patients; desensitization procedures for delayed hypersensitivity reactions; reintroduction of food after long term parenteral therapy; premedication of patients with mast cell activation disease, including systemic mastocytosis; and mast cell involvement in gastroparesis, ileus and GI dysmotility.

Based upon these scenarios, we can infer the following:

  • Reintroduction of food to this patient should follow a long, repetitive schedule with gradually increasing quantities.
  • Premedication with antihistamines and glucocorticoids to avoid mast cell reaction should be considered.
  • Mast cell activation can directly induce GI dysmotility. Drug management of mast cell activation can suppress impact upon function.
  • Enteral feeds should be gradually increased while parenteral feeds are gradually decreased.
Scenario Application to food reintroduction in a mast cell patient
1 Oral food challenge in setting of FPIES FPIES and food reactions secondary to mast cell disease are both non-IgE mediated and can culminate in shock requiring emergency intervention.
2 Desensitization for delayed drug hypersensitivity reactions Mast cell degranulation and anaphylactic reactions are not type I hypersensitivity reactions. They may also present on a delayed schedule.
3 Reintroduction of food after long term parenteral nutrition Reintroducing food to patients after long term parenteral nutrition may impact GI function. Gradual reintroduction is recommended.
4 Premedication of patients with mast cell activation disease Patients with mast cell activation disease, including systemic mastocytosis, are advised to premedicate prior to all procedures to decrease risk of reaction and anaphylaxis.
5 Mast cell involvement in gastroparesis, ileus, and GI dysmotility Mast cells contribute significantly to GI motility disorders including gastroparesis and ileus.

 

  1. Oral food challenge in patients with food protein induced enterocolitis syndrome (Caubet 2014[ii], Leonard 2011[iii])
  • Food protein induced enterocolitis syndrome (FPIES) is a severe non –IgE mediated GI food hypersensitivity syndrome.  Patients with FPIES are children. The condition is managed by removing the offending food from the diet for extended periods, usually years.
  • Food challenge in FPIES can result in severe, repetitive vomiting; diarrhea; lethargy; pallor; hypothermia; abdominal distension; and low blood pressure. Not all of these features are universally present for all patients.
  • The following procedure is recommended for oral food challenge in FPIES children:
  • All FPIES oral food challenges must be physician supervised with appropriate supportive care available.
  • Over the first hour, 0.06-0.6 g/kg body weight of food protein should be administered in three equal doses. It should not exceed 3g of total protein or 10g of total food or 100ml of liquid for initial feeding.
  • If patient has no reaction, give a full serving of food as determined by their age.
  • Observe patient for several hours afterward.
  • In the event of severe reaction, administer 1mg/kg methylprednisolone intravenously, up to 60-80 mg total; 20 ml/kg boluses of NS; and epinephrine.
  • Food challenge is considered positive for reaction if patient experiences typical symptoms as a direct result of the challenge.

 

  1. Desensitization for delayed hypersensitivity medication reactions (Scherer 2014[iv], Leoung 2001[v])
  • There are no controlled studies available on desensitization for delayed reactions to drugs.
  • Described procedures have timespans ranging from hours to weeks.
  • Patients who initially failed rapid protocols have succeeded using slower procedures.
  • It may take 2-3 days before hypersensitivity symptoms develop in a delayed reaction.
  • Long protocols with repetitive, gradually escalating dosing are recommended.
  • Antihistamine prophylaxis is often recommended. Drug and dosing vary.
  • The following procedure describes an example of a gradually escalating dosing:

Dose escalation for desensitization, adapted from antibiotic desensitization procedure

(Leoung 2001)[v]

Dosing level Drug portion Frequency of daily dosing
1 12.5% QD
2 25% BID
3 37.5% TID
4 50% BID
5 75% TID
6 100% QD

 

  1. Reintroduction of food after long term parenteral nutrition (Hartl 2009[vi], Oley Foundation)
  • Long term TPN may increase intestinal permeability.
  • Long term TPN may result in diminished enzymatic activity in GI mucosa.
  • The Oley Foundation suggests decreasing parenteral nutrition by 25% while increasing enteral feeds by 25% as the patient tolerates.

 

  1. Premedication of patients with mast cell activation disease (Castells 2016[vii])
  • Mast cell patients are recommended to premedicate for all procedures using H1 and H2 antihistamines, glucocorticoids, and leukotriene receptor antagonists.

 

  1. Mast cell involvement in gastroparesis, ileus, and GI dysmotility (Nguyen 2015[viii], de Winter 2012[ix])
  • Mast cells can be activated by a number of pathways which do not involve IgE, including neuropeptides, complement factors, cytokines and hormones.
  • Mast cells in the GI tract are closely associated with afferent nerve endings.
  • Mast cell behavior in the GI tract is largely controlled by the central nervous system.
  • Mast cells are directly involved in GI dysmotility disorders including gastroparesis and ileus.
  • Mast cell activation and population may be upregulated in the setting of GI inflammation.

[i] Lange M, et al. (2012) Mastocytosis in children and adults: clinical disease heterogeneity. Arch med Sci, 8(3): 533-541.

[ii] Caubet JC, et al. (2014) Clinical features and resolution of food protein induced enterocolitis syndrome: 10-year experience. J Allergy Clin Immunol, 134(2): 382-389.

[iii] Leonard S, et al. (2011) Food protein induced enterocolitis syndrome: an update on natural history and review of management. Ann Allergy Asthma Immunol, 107:95-101.

[iv] Scherer K, et al. (2013) Desensitization in delayed drug hypersensitivity reactions – an EAACI position paper of the Drug Allergy Interest Group. European Journal of Allergy and Clinical Immunology, 68(7): 844-852.

[v] Leoung GS, et al. (2011) Trimethoprim-sulfamethoxazole (TMP-SMZ) Dose Escalation versus direct rechallenge for Pneumocystis carinii pneumonia prophylaxis in human immunodeficiency virus-infected patients with previous adverse reaction to TMP-SMZ. Journal of Infectious Diseases, 184:992-997.

[vi] Hartl WH, et al. (2009) Complications and monitoring – Guidelines on Parenteral Nutrition, Chapter 11. Gen Med Sci, 7:Doc17.

[vii] http://www.tmsforacure.org/documents/ER_Protocol.pdf

[viii] Nguyen LA, et al. (2015) Clinical presentation and pathophysiology of gastroparesis. Gastroenterol Clin N Am, 44: 21-30.

[ix] de Winter BY, et al. (2012) Intestinal mast cells in gut inflammation and motility disturbances. Biochimica et Biophysica Act, 1822: 66-73.

An update on my friend, Kristina Brightbill

In early October 2015, I was sending most of my time trying to figure out how to feed some mast cell kids who couldn’t eat anything but breast milk produced on a very, very restricted diet. There were two kids struggling with this seemingly impossible problem. One of those kids was a little boy named Lucas. His mother, Kristina, is my friend. She had been on a single food diet in order to produce breast milk he could safely eat. She herself was a mast cell patient and the combined effects of mast cell disease, malnutrition, and fear for her child ravaged her body.

Lucas had been admitted to a California hospital for months, thousands of miles from home in Florida. After a long series of setbacks, Lucas’ doctors were okay with letting him go home so that their family could rest to try to introduce foods or IV nutrition again at a later time. On the day he was being discharged, a friend called to tell me that Kristina was in the emergency room.

Over the next few hours, our friends and I called each other, talked to Kristina, and later to her mother and husband. Things progressed very quickly and soon Kristina was unresponsive and intubated. It would be days before we knew what had actually happened – Kristina had suffered a catastrophic pontine stroke in her brainstem. The pons is the place where your body integrates sensory and motor information to allow movement. Despite being completely aware and as intelligent as before the stroke, Kristina was unable to move or communicate.

I have written about Kristina and visiting her before: here, here, here, and here. Both she and her son Lucas require ongoing care for mast cell disease. She is home now and requires 24-hour care every day for the rest of her life. Her care is phenomenally expensive. When I visited Kristina in Florida last year, I was immediately struck by how much pressure her family was under to care for her and Lucas.

After several months of managing care for Lucas and Kristina, the Brightbills and Dalys have decided that the best path forward is to live under one roof. This will allow a better, safer environment with a built in support system. As you can imagine, on top of all of their other expenses (to the tune of $8000/month), this construction will be expensive, but necessary.

I have never accepted money for writing this blog or answering questions. I do not believe that people should have to pay for access to information that could affect their health.

But if you have ever wanted to compensate me, or to repay me in some way, please feel free to make a donation to Kristina and her family.

I care for Kristina, Jed, Lucas, Linda, Katie, and the rest of the Brightbill/Daly family deeply. Please help them if you can. Helping them is helping me.

Chromogranin A

Chromogranin A is a protein secreted in several environments. While it is primarily released in the adrenal medulla with catecholamines (norepinephrine, epinephrine, dopamine, and others), CgA is often found stored in the granules of endocrine cells in the GI tract. CgA is the precursor molecule for several active molecules. Vasostatin-1 and -2 are involved in regulation of various effects of the cardiovascular system, including blood pressure and stroke volume, by opposing the action of catecholamines. Catestatin decreases release of catecholamines. Pancreastatin decreases insulin secretion. A number of other molecules are also derived from CgA.

Chromogranin A and its derivatives are biomarkers for several conditions. 60-80% of neuroendocrine tumor patients demonstrated elevated chromogranin A. A connection with Alzheimer’s disease has recently been reported. Rheumatoid arthritis and lupus patients may have elevated CgA as a result of increased tumor necrosis factor. Various forms of cancer, kidney disease, and elevated cortisol can also impact chromogranin A level.

Elevated CgA has also been linked to a number of inflammatory GI conditions. 30-50% of IBD patients with active disease have elevated serum CgA. In ulcerative colitis, fecal chromogranins were elevated but not correlated with disease activity. Conflicting results have been seen in patients with Crohn’s disease. Some studies have reported an increased amount of CgA containing cells in patients with IBS.

There are a number of methods for quantifying chromogranin A. Proton pump inhibitors and H2 antihistamines can yield false positive results. A study compared several commercial kits for measuring chromogranin A and found that the radioimmunoassay (RIA) kit was most likely to be accurate with a sensitivity of 93% and specificity of 85%. This means that 93% of the time, this kit properly identified patients with high CgA as having high CgA, while 85% of the time, it properly identified patients with normal CgA as having normal CgA. Currently, there are multiple test methods for quantifying serum and plasma CgA with no central standardization.

Chromogranin A is a constituent of granules in rat mast cells. Tumor necrosis factor is a mediator released by mast cells and may also influence the levels of chromogranin A in mast cell patients. One study found that 31.5% of patients with mast cell activation disease (in a cohort mostly composed of MCAS patients) demonstrated elevation of serum CgA. This same study concluded that plasma heparin and 24 urine testing for prostaglandin D2 and 9a,11b-prostaglandin F2 were the most sensitive markers for mast cell activation with other mediators being less effective.

References:

Gut P, et al. (2016) Chromogranin A – unspecific neuroendocrine marker. Clinical utility and potential diagnostic pitfalls. Arch Med Sci, 12(1): 1-9.

Wernersson S, Pejler G. (2014). Mast cell secretory granules: armed for battle. Nature Reviews Immunology, 14: 478-494.

D’Amico MA, et al. (2014) Biological function and clinical relevance of chromogranin A and derived peptides. Endocrin Connect, 3(2):R45-54.

Mazzawi T, et al. (2015) Increased chromogranin A cell density in large intestine of patients with irritable bowel syndrome after receiving dietary guidance. Gastroenterology Research and Practice, Article ID 823897.

Zenker N, Afrin LB. (2015) Utilities of various mast cell mediators in diagnosis mast cell activation syndrome. Blood, 126:5174.

Massironi S, et al. (2016). Chromogranin A and other enteroendocrine markers in inflammatory bowel disease. Neuropeptides, xxx, xxx-xxx.

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.