Skip to content

mast cell disease

I am rare

A year ago this week, I started writing regular posts about mast cell disease and chronic illness. In honor of Rare Disease Day, the last day of February, I decided to put up short posts on Facebook daily for the remaining days of February. I could not have predicted that this would eventually give way to a website that is visited thousands of times a month by people all over the world.

I wanted to write a post about having a rare disease and what it meant to be a rare patient, but I have actually been too busy dealing with my rare disease to do it. This week, it occurred to me that I actually have multiple rare diseases. Today, I learned that four of my diagnoses are classified as rare diseases in the US. I have four individual rare diseases. This is not uncommon for mast cell patients.

In the US, any disease that affects less than 200,000 at one time is considered rare. These diseases can be infectious diseases, cancers, genetic disorders, autoimmune diseases, and so on. Rare diseases are defined differently by different countries and organizations. Likewise, a disease can be rare in one region and common in another.

There are over 7000 known rare diseases. Worldwide, they affect 300,000,000 people. In the US, they affect 25,000,000. If all rare diseases live together in one country, it would be the third most populous country in the world.

Almost 10% of the American population has at least one rare disease. 2/3 of Americans living with rare disease are children. Currently, only 350 rare diseases have an FDA approved treatment. This means that most of the medications we use are not designed for us and we don’t know how they will affect us.

Almost half of primary care physicians in the US say they feel uncomfortable with taking on a rare disease patient. It can take us up to six years to receive a correct diagnosis. Some people are never diagnosed.

80% of rare disease patients have one of 350 rare diseases, with the rest being significantly more rare. Mastocytosis is not one of those 350 diseases.

 

My name is Lisa Klimas. I am 31 years old and I live with four rare diseases.

Mast cell disease causes severe allergic reactions to things I am not actually allergic to.

Ehlers Danlos Syndrome causes hernias, joint instability, and poor wound healing.

Postural Orthostatic Tachycardia Syndrome causes dysregulation of blood pressure and heart rate.

Mixed connective tissue disease causes autoimmune activity against various tissues in my body.

All of these conditions are chronic, incurable, and painful.  Together they can cause life threatening complications.

February 28th is Rare Disease Day. For many people, it is just another day. But for me, it is a celebration.

It is a reminder that there are other people like me all over the world.

Alone, we are rare, but together we are many.  We are strong.  We are an army.

My name is Lisa Klimas and I am rare.

 

I am rare

 

 

 

*All figures from the National Organization for Rare Disorders (NORD).

Screaming at the sun

I woke this morning to several more inches of snow. I watched it fall as I hovered in the doorway, the dog chasing it around the yard. My city has seen over three feet of accumulation in under a week with more on the way. It makes life more difficult, but it wasn’t difficult yet first thing this morning. It covered everything, pushed away the peripheral realities of life. Not a problem yet, just me and this sparkling, crystalline oblivion.

I am grieving right now. The isolation that accompanies snow storms is a good fit these days. I drink entire pots of coffee and fresh juices and type furiously while listening to the Beatles. There is no one to ask about this pain. It is just as well, because I haven’t felt like talking about it.

I funnel this frenetic energy into work, into writing posts, into cutting up fruits and vegetables to juice. I don’t want to sleep because I feel like I should be doing something. I can’t sit still because I am so uncomfortable in this body and if I stop moving, it feels like this sorrow will be upon me.

I grieve all big decisions, whether or not I realize it at the time. This swell of emotion has been building for some time, all the small upsets snowballing around this weighty core. I realized last week that I can no longer feel the difference along the scale of emotional pain. There are no little things right now. Every pain hurts exactly the same.

I will have the surgery and recuperate. I will feel better when I am healed. I will be taken care of. I will be fine. I will do all the things I have to. Everything will get done. I will be fine. I will be fine.

I don’t get upset when I see a blizzard is coming. The sheer enormity makes it pointless. It’s like screaming at the sun. There’s no point.

It’s the same with this pain. I know there’s no point in trying to change it. But sometimes I scream at the sun anyway.

Mast cell mutations: SRSF2 in SM-AHNMD

SRSF2 is a splicing protein, which means it is involved in cutting RNA so that a gene makes the correct protein. SRSF2 mutations at position 95 (p95) have been found in 24-37% of SM patients. In nearly all cases, this mutation is found in patients that have SM-AHNMD. SRSF2 mutations at p95 are associated with myelodysplastic syndromes, leukemias and other hematologic diseases, including mastocytosis. After CKIT D816V mutation, it is the most common mutation found in systemic mastocytosis patients.

SRSF2 mutation occurs early in disease. One study indicates that it occurs in the time period between the initial TET2 mutation and the initial CKIT D816V mutation. Like TET2, it may predispose progenitor cells to develop subsequent mutations that cause disease. Patients with SRSF2 mutations are more likely to also have a TET2 mutation, and even more likely to have a mutation affecting another gene with epigenetic activity. SRSF2 alone does not drive neoplastic behavior in mast cells. SRSF2 has been found in patients without the CKIT mutation.

Importantly, SFSR2 is strongly associated with patients who develop SM-AHNMD. One study with a cohort of 72 patients with various forms of mastocytosis, including clonal MCAS (monoclonal mast cell activation syndrome) found that of 17 SM-AHNMD patients, 15 (88%) were positive for SFSR2 mutation. The associated conditions included AML, CMML, MDS, MSD (AREB), MPN, MPN/MDS and Waldenstrom’s macroglobunemia. SRSF2 mutations are not associated with any specific AHNMD and it does not predict survival time. This cohort included three patients who tested positive for the mutation but developed an AHNMD later in the study.

In SM-AHNMD patients, the SRSF2 mutations were found in both mast cells and monocytes in the bone marrow. This indicates that the mutation may cause transformation in both disease portions: SM and the AHNMD.

 

References:

Hanssens K., et al. SRSF2-P95 Hotspot Mutation is Highly Associated with Advanced Forms of Mastocytosis and Mutations in Epigenetic Regulator Genes. Haematologica 2013 [Epub ahead of print.]

Schwaab, J., Schnittger, S., Sotlar, K., Walz, C., Fabarius, A., Pfirrmann, M., et al., 2013.Comprehensive mutational profiling in advanced systemic mastocytosis. Blood122 (October (14)), 2460–2466.

Soucie, E., Brenet, F., Dubreuil, P. Molecular basis of mast cell disease. Molecular Immunology 63 (2015) 55-60.

Burning down

A lot of my doctors remember that I was applying to medical school before I got sick. I think this is funny, but I suppose my story is strange enough to be memorable. When I saw my surgeon to discuss my upcoming surgeries, he asked if I was still planning to go.

“I would never survive medical school,” I said casually. I briefly described how I anaphylax when overtired, that stress is dangerous for me, that sometimes I sleep through entire days.

“I think you’d be fine. Never say never,” he replied.

Inside, I was shaking my head. I want to go to medical school. I think I would do well in medical school. But this disease is such a constant unknown. I can’t predict what it will do, and all I can do is try to live around it. I don’t know that I can justify going to med school when four very stressful weeks could disable me permanently. Even more than I’m already disabled, I mean.

Then there are the more practical concerns. Like how I almost never drive anymore. If I drive somewhere, there is always the chance that I will react and need IV meds that make me unable to drive. When that happens, I need someone to come get me and drive my car home. I also can’t take pain medication if I need to drive. And also, it irritates my hips. So I would need to find someone to drive me.

And that most basic adult life skill: waking up to an alarm. Can’t do that either. I have a deaf alarm clock that shakes the bed and two other alarm clocks. They don’t wake me. I have to be woken up by my parents every morning, which is really humiliating. Every time I fall asleep, I’m afraid I won’t wake up in time to do whatever I need to do the next day.

There are more things, of course. There are dozens of things I can’t do by myself anymore. I can’t lift things. I need help to make my bed. If I’m in pain, I can’t walk my dogs. I sometimes can’t take out my trash. When I had a PICC line, it took me forever to do dishes in a way that didn’t soak my dressing and if I covered my site, it made it harder for me to use that hand functionally. Cleaning is really time consuming because I’m allergic to dust. And so on.

I can’t remember when I started losing my independence. It feels like there should be a moment, a specific point in time I can point to. There isn’t. It must have started slow and progressed that way for a while, the change so gradual it didn’t draw attention. And then one day I realized that I was dependent upon other people to execute basic functions of my life. And there was nothing I could do about it. It was like my house was burning down and I didn’t realize even though I was living in it.

Now I am dealing with the reality of again being completely dependent on others for several weeks of my life while undergoing and recovering from my surgeries. This time, I am doing it with the added complication of living alone. After my last bowel surgery, I couldn’t be alone for almost three weeks. I couldn’t lift anything. I couldn’t stand long enough to cook anything. I was at increased risk of anaphylaxis. I am fortunate to have many friends and relatives who signed up to babysit and care for me during that time. I am grateful to the people who cared for me then, but the complete lack of privacy and personal space during that time was one of the hardest parts of my recovery.

It is not lost on me how closely my current situation mirrors the lead up to my ostomy surgery, and how badly things went afterward looms heavily in my mind. Both personally – needing to move out of my apartment very quickly, my longterm relationship ending – but also physically. I wasn’t supposed to have obstructions after the ostomy. I did. The ostomy helped, but the reality that I still had so many problems was difficult. I know I need these surgeries, but I am preparing for the disappointment when new complications arise. And I would venture that the disappointment is harder than the physical recovery.

The last few weeks have been really stressful on pretty much all fronts. I’m taking this weekend to figure out a way to address that, as what I’m doing now is not sustainable.

I can’t be everything I want to be all the time. Sometimes I can’t even be a functioning adult for myself.

Progression of mast cell diseases (Part 5)

What is the typical age of onset for children with mastocytosis?

“Mastocytosis [cutaneous, in children]… 55% of cases presenting from birth to 2 years of age, 10% in children younger than 15 years old, and 35% in those over the age of 15. There has, however, been no gender bias noted in the cases of pediatric mastocytosis.” (Frieri 2013)

 

Do symptoms outside of the skin mean my child has systemic, not cutaneous, mastocytosis?

“Systemic symptoms are typically a result of mast-cell mediator release but do not prove systemic mast-cell hyperplasia [overproliferation].” (Frieri 2013)

“Clinical presentation was evaluated in an earlier study conducted by the National Institutes of Health (NIH) in which 83% of the children presented with pruritis, 65% with flushing, 53% with vesicles, 41% with abdominal pain, 18% with bone pain, and least commonly 12% with headache.” (Frieri 2013)

“Systemic mastocytosis in children is extremely rare.” (Frieri 2013)

 

What do studies say about kids growing out of mastocytosis?

“Pediatric mastocytosis is generally a benign disease that is transient in nature, as there is generally a spontaneous regression of the condition by puberty.” (Frieri 2013)

“There was complete regression of disease as defined by cutaneous findings and symptoms (clinical disease severity) in 10 of 15 patients (67%). Three patients had major (20%) and two had partial regression of disease (13%). Repeat marrow examinations on three patients with persistent disease documented systemic mastocytosis based on marrow findings in one patient who had partial regression of disease and was the only patient with initial [] evidence of systemic disease. Of the remaining two patients, one demonstrated partial regression and the other major regression of disease; and neither had evidence of systemic mastocytosis.” (Frieri 2013)

“10 of 15 of patients had complete resolution of cutaneous disease and symptoms at follow-up approximately 20 years later. This resolution of disease, based on cutaneous findings and symptom scores, occurred in the absence of use of topical or systemic steroids, PUVA or cytoreductive agents including imatinib… the natural history of disease is improvement.” (Uzzaman 2009)

“In one [] pediatric report where records and follow-up examinations were available for 25 children with UP, and an average follow-up was approximately 5 years, 76 % improved, 16 % remained unchanged, one had complete disease resolution, and one was worse.” (Uzzaman 2009)

“In a second [] study, 55 children with UP were followed for at least two years after initial examination, during which time 9% had involution of all lesions. In this study, where the average follow-up was 4.1 years, 36% had shown improvement over 6.1 years, and in 55% disease remained unchanged.” (Uzzaman 2009)

“In a third [] study, records of mastocytosis patients [] were available to assess disease outcome over a 1–15 year period. Thirty-five of 62 patients with UP (56%) showed complete disease resolution.” (Uzzaman 2009)

“In a fourth [] study, of 72 cases of UP, 20% cleared disease over an average of 13 years, while 50% improved, 18% were no different, and 10% were worse.” (Uzzaman 2009)

“The age of inception of pediatric-onset cutaneous mastocytosis has been reported to have prognostic implications. In previous studies, skin lesions characterized as hyperpigmented red brown macules or papules typically were reported to appear prior to two years of age. In five such studies with 180, 112, 71, 55 and 17 patients, disease-onset prior to age 2 years was seen in 78, 92, 98, 92, and 82%, respectively. In the majority of patients, these lesions were reported to fade or resolve by late adolescence or early adulthood. Fading or resolution of UP is also reported in some adults (around 20%), although bone marrow disease persisted.” (Uzzaman 2009)

 

How do biopsies of children with mastocytosis differ from adults with mastocytosis?

“In order to analyze the extent of mast-cell hyperplasia, [] bone-marrow biopsies were performed and analyzed. In one study, it was found that in 10 of 17 children with mastocytosis, there were focal areas of mast-cell hyperplasia, which had [] aggregates of mast cells, eosinophils, and early myeloid cells.” (Frieri 2013)

“Another study found that the bone-marrow lesions of children had small, [] clusters of mast cells with round and oval nuclei rather than spindle-shaped mast cells, as found in adult bone-marrow lesions.” (Frieri 2013)

“Overall when quantifying mast-cell hyperplasia, there was a higher load of mast cells in children with mastocytosis than in adults with mastocytosis.” (Frieri 2013)

“[T]he difference in presentation between adult and pediatric cases of mastocytosis may result from the difference not only in the mast-cell load but also the distribution of where the mast cells are most likely to be found.” (Frieri 2013)

 

Do increased mast cells in the bone marrow mean my child will not grow out of their disease?

“Five patients had increased mast cells and three patients had spindle shaped mast cells on the initial bone marrow biopsy. One of these patients had complete resolution of clinical and constitutional symptoms at follow-up. Three of the remaining four patients were re-evaluated. One of these was the patient with continued systemic disease, one had persistent DCM and one had continued UP. However, two other patients with continued UP had neither an increase in mast cells nor spindle shaped mast cells noted on original bone marrow examination. Thus, while the presence of increased mast cells and of spindle-shaped mast cells was more often observed in those with persistent disease, the association was not sufficient to predict outcome.” (Uzzaman 2009)

 

Are children with mastocytosis CKIT+?

“Earlier studies by Verzijl found that 25% of pediatric patients with UP had an activating D816V mutation present. Another Longley study found that 36% of pediatric patients had another mutation at codon 816. (This is where the D816V mutation is found.)…One study found that 25% of pediatric patients with the UP form of mastocytosis had a D816V mutation. It was also found that 10 out of 12 patients had another [non-D816V] mutation at the location.” (Frieri 2013)

“A later study by Bodemer in 50 pediatric patients with ages ranging from birth to 16 years found 86% of them had a c-KIT mutation, with 36% being a D816V point mutation, 2 out of 50 cases being a D816Y mutation, and one case being a D816I mutation. There were also 29 of 50 patients with [no mutation] at the 816 codon.” (Frieri 2013)

“44% of the patients were found to have a mutation outside of c-KIT with the mutations lying in exons 8, 9, and 11. There was also a subset of 28% of the patients with a M541L mutation at exon 10. [T]he patients with a M541L mutation had [no mutation] at codon 816. When the blood sample of 13 patients was analyzed, it was found that there was no c-KIT mutation, which suggests that the mutation is somatic rather than germline, meaning that this mutation is not inherited from a patient’s parents.” (Frieri 2013)

 

Do mastocytosis children generally have problems with anesthesia?

Note: always follow appropriate premedication protocols for mast cell patients and work with managing physician.

“Twenty-two patients with pediatric mastocytosis, with a median age of 3.2 years (range 6 months to 20 years) at the time of the procedure, were anesthetized for 29 diagnostic and surgical procedures. All variants of the disease are represented in this series. Most patients had a history of flushing, pruritus, gastroesophageal refux disease (GERD), and abdominal pain; one patient had history of spontaneous anaphylaxis. Routine anesthetic techniques were used, and despite the complexity of the disease, the perioperative courses were uncomplicated and without serious adverse events.” (Frieri 2013)

 

Note: These quotes are all drawn from two papers which extensively referenced previous publications. I ran down the articles referenced, but felt that these two reviews gave excellent summaries, and so I quoted them exclusively.

 

References:

Frieri, Marianne, et al. Pediatric mastocytosis: A review of the literature. Pediatr Allergy Immunol Pulmonol. Dec 1, 2013; 26(4): 175-180.

Uzzaman, Ashraf, et al. Pediatric-onset Mastocytosis: A long term clinical follow-up and correlation with bone marrow histopathology. Pediatr Blood Cancer. Oct 2009; 53 (4): 629-634.

Kettelhut BV., Metcalfe DD. Mastocytosis. J Invest Dermatol 1991; 96:115S–118S.

Lange M., Bogusław Nedoszytko B., Górska A., Żawrocki A., Sobjanek M., Kozłowski D. Mastocytosis in children and adults: clinical disease heterogeneity. Arch Med Sci 2012; 8:533–541.

Bodemer C., Hermine O., Palmérini F., Yang Y., Grandpeix-Guyodo C., Leventhal PS., Hadj-Rabia S., Nasca L., Georgin-Lavialle S., Cohen-Akenine A., Launay JM., Barete S., Feger F., Arock M., Catteau B., Sans B., Stalder JF., Skowron F., Thomas L., Lorette G.Plantin P, Bordigoni P, Lortholary O, de Prost Y, Moussy A, Sobol H, Dubreuil P. Pediatric mastocytosis is a colonal disease associated with D816V and other activating C-KIT mutations. J Invest Dermatol 2010; 130:804–815.

 

Progression of mast cell diseases (Part 4)

If ISM is life threatening, why is not considered as dangerous as ASM or MCL?

ISM is not life threatening. Anaphylaxis is life threatening. They are not the same. Many people with ISM never experience anaphylaxis. ISM can make anaphylaxis more dangerous, but ISM is not the same as anaphylaxis. Outside of anaphylaxis, ISM is not life threatening.

“Indolent systemic mastocytosis (SM) patients have a varied clinical presentation, ranging from predominantly cutaneous symptoms to recurrent systemic symptoms (eg, flushing, palpitations, dyspepsia, diarrhea, bone pain) that can be severe and potentially life threatening (anaphylaxis.)” (Pardanini 2013)

 

Is MCAS more or less dangerous than ISM?

“From a clinical standpoint, MMAS and MCAS share many similarities with systemic mastocytosis (SM), a primary disorder of mast cells in which patients experience symptoms ranging from pruritus and flushing to anaphylaxis.” (Picard 2013)

Again, the real danger here is anaphylaxis rather than these entities themselves. Statistically, the numbers don’t have a lot of uniformity regarding frequency of anaphylaxis in SM, what constitutes a severe reaction, and so on. Additionally, there are multiple definitions of MCAS and how that is distinguished from IA, which is really important to understanding the true frequency of anaphylaxis in MCAS. However, the data currently shows a trend of anaphylaxis being less common in MCAS than in SM. Still, it is important to realize that this may be due to less research being available on MCAS than mastocytosis.

“In our cohort 3 [MCAS] patients (17%) had a history of anaphylaxis. These patients were included in our cohort because they had primary symptoms characteristic of MCAS that responded to medications and had other laboratory evidence of MC mediator release…There likely exists a spectrum of disease for MCAS in which the more severe form includes anaphylaxis and a spectrum of IA in which a form includes MCAS symptoms.” (Hamilton 2011)

It is well known that people with mastocytosis are more likely to experience anaphylaxis than the general public. In adults with any type of mastocytosis, 49% experience anaphylaxis. Patients with systemic mastocytosis were more likely to anaphylax than those with cutaneous mastocytosis. In adults, 48% of the anaphylactic reactions were severe, with 38% causing unconsciousness. 60% of those reactions were Grade III anaphylaxis. (Brockow 2008)

“In 4 of the 137 [SM] patients (3%), severe life-threatening anaphylaxis resulting in a severe handicap with or without transient or permanent disability occurred.” (Wimazal 2012)

“Prolonged hypotension following anaphylaxis and cerebral hypoxia were identified as major factors leading to a substantial handicap, clinical deterioration or even death in these patients.” (Wimazal 2012)

“However, in both patients in whom recurrent life-threatening anaphylaxis was recorded, the smoldering subtype of SM with a huge burden of MCs was diagnosed, whereas most patients in whom only one documented severe life-threatening event had occurred were found to have low-grade SM with a low burden of MCs.” (Wimazal 2012)

“Thirty-six [SM] patients (43%) had had at least one episode of an anaphylactic reaction. The clinical courses of the reactions were usually severe and patients often presented with syncope attacks (72%). Most patients reacted after hymenoptera venom stings (19/36; 53%). In 39% (14/36), a clear etiology could not be determined. While males and females were equally frequent among the patients with SM, anaphylaxis patients showed a male predominance (61%). Anaphylactic reactions occurred more frequently in patients without cutaneous engagement. The rate of allergy sensitization was significantly higher in SM patients with anaphylaxis as compared with non-anaphylaxis SM patients, 70% vs. 23%, respectively.” (Gulen 2014)

 

Does an elevated GI mast cell count tract (in the absence of aberrant receptors, clustering or spindled mast cells) indicate MCAS or SM?

“Our immunohistochemical analysis led us to the conclusion that there was no significant difference between the numbers of intestinal mucosal MCs in our patients with MCAS and our reference standard. We recognize that there is currently no consensus for what constitutes a normal number of MCs in the various intestinal tissues. We therefore chose data from a recently published study by one of the authors to be the reference standard. In this study normal numbers of MCs were tabulated for each tissue site. Although we did not find appreciably increased numbers of MCs or abnormal morphology, it is possible that patients with MCAS have a different threshold for MC activation and differentially release MC mediators on activation or that peripheral tissues have an abnormal response to these mediators. We also recognize that a population of patients with chronic diarrhea has been described and labeled as having mastocytic enterocolitis. These patients had a greater number of MCs per hpf in duodenal and colon biopsy specimens compared with the control population (>20 vs 13 MCs/hpf). We were not able to verify this observation in our cohort because many of our control population biopsy specimens had more than 20 MCs/hpf.” (Hamilton 2011)

 

What is the relationship between CM and MCAD (including SM and MCAS)?

“[M]ost patients with adult-onset MIS [mastocytosis in the skin (commonly called cutaneous mastocytosis,CM)] have demonstrable bone marrow (BM) involvement with clonal mast cells when modern-era diagnostic tools are used, in most instances, satisfying WHO diagnostic criteria for SM. While historical series of patients with MIS revealed an 18% to 50% prevalence of systemic involvement based on conventional histologic criteria, more modern series suggest that only a minority of adult patients have skin-limited disease. Further, approximately 50% of adults with apparent skin-limited mastocytosis may have a clonal BM mast cell infiltrate that falls short of the diagnostic threshold for SM (satisfies major criterion only or only 1 or 2 minor criteria), suggesting prediagnostic or early stage of ISM.” (Pardanini 2013)

“The relationship between systemic MCAD and cutaneous mastocytosis (CM, synonyms: paediatric or childhood onset mastocytosis) remains unclear. Early studies suggested that CM and systemic MCAD were separate disease entities, because the majority of CM patients were found to lack mutations of the tyrosine kinase KITgene. However, subsequent studies have demonstrated that the frequency of clonal KIT mutations is similar in patients with CM, SM and MCAS, and that they are present in up to 86% of patients from each diagnostic group.” (Haenisch 2012)

“Interestingly, in contrast to adult-onset systemic MCAD, more than 50% of paediatric cases of cutaneous mastocytosis appear to enter long-term remission spontaneously, though whether such remissions are permanent or relapse in adulthood as systemic MCAD is unknown.” (Haenisch 2012)

“In contrast, most adults with CM have an underlying SM and should undergo a bone marrow biopsy regardless of the presence of associated systemic symptoms of mediator release. Conversely, 80% of SM patients have cutaneous disease that manifests as urticaria pigmentosa. In contrast, patients with MMAS and MCAS never have CM, and patients with ASM or MCL frequently lack CM.” (Picard 2013)

 

References:

Juan-Carlos Cardet, Maria C. Castells, and Matthew J. Hamilton. Immunology and Clinical Manifestations of Non-Clonal Mast Cell Activation Syndrome. Curr Allergy Asthma Rep. Feb 2013; 13(1): 10–18.

Britta Haenisch, Markus M. Nothen and Gerhard J. Molderings. Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics. Immunology 2012, 137, 197–205.

Animesh Pardanani. How I treat patients with indolent and smoldering mastocytosis (rare conditions but difficult to manage.) April 18, 2013; Blood: 121 (16).

Matthieu Picard, Pedro Giavina-Bianchi, Veronica Mezzano, Mariana Castells. Expanding Spectrum of Mast Cell Activation Disorders: Monoclonal and Idiopathic Mast Cell Activation Syndromes. Clinical Therapeutics, Volume 35, Issue 5, May 2013, Pages 548–562.

Gerhard J Molderings, Stefan Brettner, Jürgen Homann, Lawrence B Afrin. Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. Journal of Hematology & Oncology 2011, 4:10.

Brockow, C. Jofer, H. Behrendt and J. Ring. Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy, Volume 63, Issue 2, pages 226–232, February 2008.

Wimazal F., Geissler P., Shnawa P., Sperr W.R., Valent P. Severe Life-Threatening or Disabling Anaphylaxis in Patients with Systemic Mastocytosis: A Single-Center Experience. Int Arch Allergy Immunol 2012; 157: 399–405.

Gülen, H. Hägglund, B. Dahlén and G. Nilsson. High prevalence of anaphylaxis in patients with systemic mastocytosis – a single-centre experience. Clinical & Experimental Allergy, Volume 44, Issue 1, pages 121–129, January 2014.

 

 

 

The Cult of Optimism; or, Openheart

Optimism when chronically ill is like a cult. You just show up one day and decide to be optimistic. Because you are optimistic, everyone around you is also optimistic, and for a while, that makes it seem like things will be fine. Optimism is a reflex when presenting with a protracted, terrible situation. It is a defense mechanism, a sort of emotional shock that allows us to move forward.

But optimism is also a distraction, a slight of hand. It draws your attention away from the seedy underbelly of this type of thinking. When we are alone, we sit with the nameless fears we don’t share lest we shatter this illusion of positivity. You’re not supposed to talk about the bad things that could happen when you’re part of this cult.

A lot of us are worse off than we tell people, sometimes even people close to us. There are words we can’t give shape to. A sentence we type and delete.

Over.

And over.

When things started getting bad, I decided that I couldn’t control what happened, but I could control people’s expectations. I think I will be fine, but that doesn’t mean I will be. The wrong med during surgery, undercooked egg whites, a bad car accident that triggers anaphylaxis. The night is dark and full of terrors, and all that.

Believing I will survive won’t make me live longer. I can’t control that. But I can control whether or not people are surprised if something happens to me, and I don’t ever want them to be surprised. I don’t ever want anybody to say that they didn’t know how bad it was. It’s painful for me to lay it all out for them, to say the words, to share the risks. But not doing this feels like treason.

We live in a world of secondhand information, where people so often don’t remember how they know things. It makes so much of medicine and disease impersonal, removed. When someone wonders about what it’s like to live with chronic disease, I don’t want them to read emotionless facts and statistics. I want them to read this and feel my heart bleeding across the screen.

I want them to know that we’re optimistic while being scared, that being optimistic makes it easier to be alive with a disease like mine. I want them to know that optimism is a sort of bet, borrowing against a future we know might not exist. I want them to know that optimism doesn’t save lives.

A couple of days ago, a friend of a friend died as a result of chronic illness. He had many heart surgeries throughout this life, so many that he was known as Openheart Dave.   He was in this cult of optimism, too.

 

 

Not a cure

On New Year’s Eve 2013, I drove to Whole Foods with my color coded list of organic, low histamine foods. I spent two hours finding unfamiliar products and reading labels. I spent $300 on six bags of food.

On New Year’s Day 2014, I cooked low histamine food with my newly purchased groceries. It was the beginning of an experiment. I was going to go low histamine for 30 days in the hopes that it would calm down my mast cell reactions, autoimmune diseases and persistently debilitating pain. I had carefully planned menus and food prep schedules for all of January.

By the end of the first week, I didn’t know if I hoped this diet would help or not. Eating low histamine when work out of the home is a royal pain in the ass. You can’t eat leftovers, so you have to cook every day. I found that since I wasn’t eating bread type products, the meals were less filling, so I had to eat more often. I spent a lot of time chopping vegetables and washing dishes. And it was expensive. Very expensive.

At the end of the thirty days, I was having fewer mast cell reactions. But my GI tract was really irritated from the additional mechanical stress of eating such high residue food. While my joint and muscle pain seemed better, my GI pain was worse. I had more energy and slept better, but the GI pain and poor motility was worse. A few weeks later, I got a PICC line in a last ditch attempt to keep my GI tract moving.

I continued to eat mostly low histamine. I drink a can of soda every day. I added back in some foods that are not low histamine but which I reliably tolerate, like potatoes and limes. I cheated sometimes. But most of the time, I stuck to the low histamine diet.

The concept of curing your disease with food is not new. Fad diets have been based around this concept for many years. I think I notice it more now because “curing yourself with nutrition” talk is abundant in the places I have to peruse to find low histamine recipes. I disagree with a lot of it. And to be honest, I think a good chunk of it is really damaging and hurtful.

I believe that it is possible to feel better by changing your diet. I think dietary and lifestyle changes are really important tools in managing chronic disease. But that is not the same as curing yourself. If you have mast cell disease and you eliminate your food triggers and see a huge reduction in symptoms, you still have mast cell disease. If you eliminate your food triggers and no longer have symptoms, you still have mast cell disease. If you stop adhering to the diet, your symptoms will return. You cannot cure mast cell disease with diet (or anything else, for that matter.) You cannot. There is no cure for mast cell disease. Or for many other chronic diseases.

An article popped up in my Newsfeed a few days ago about someone who “just decided I wouldn’t be sick anymore, so I healed myself.” Stuff like this is so hard for me to read. It implies that those of us who can’t just heal themselves are deficient in mental fortitude or discipline. It implies that these people who “cured themselves” are better than us in some way, that the rest of us aren’t trying hard enough to get better.

I decided a long time I didn’t want to be sick anymore. I have tried so many things to manage my symptoms. I have tried things I am embarrassed to admit I have tried. If it were possible to cure myself of mast cell disease (and autoimmune disease and Ehlers Danlos and so on), I would have done it by now. Instead of having a magnificent recovery through healthy eating, I need to surgically remove the pieces that are damaged beyond repair and cut my losses.

I have more severe food reactions now than I used to, possibly because I am no longer desensitized to them. After an initial period of fewer reactions, they returned with a vengeance, stronger and more frequent. It’s hard to whether the source of my reactions is more internal or external. But I know with certainty that the low histamine diet did not cure me. And I know it never will.

 

 

Inconstant

The week before Christmas was crummy. I was cold and sore and my mind was fuzzy. My skin burned and my neck was hivey. I lay awake all night, my brain humming faintly. As sunlight crept into my bedroom, I burrowed deep under my covers and slept through the daylight. I woke to darkness, feeling slow and sloppy, dripping with sweat.

Two days before Christmas Eve, I drove my car to get my hair done. I didn’t feel well. I knew I would have a reaction that day, but I was hoping I could delay its onset until I finished my errands and made it home. I couldn’t. In the middle of my appointment, I called around until I found someone who could pick me up and drive my car home. I diluted and pushed IV Benadryl in the middle of a salon while rich housewives cast sideways glances.

The ride home was the setting for my personal favorite type of mast cell reaction, in which I’m uncomfortable in my own body, so exhausted that I am falling asleep, and unable to find the right words to express what I want to communicate. I collapsed into my bed and slept for hours, the heavy and dreamless sleep your body produces when it is too exhausted for imagination.

It has been less than two weeks since I wrote a post about how much better I was feeling. I couldn’t even get out of bed.

This disease has stripped away all the meaningless noise surrounding me. All my whimsical desires are gone. I don’t have any dreams left, except the very big ones. But how can I do something extraordinary when I can’t even stay awake?

In my mind, there are no limits. I can wake up every day. I can eat normal food. I can walk with stars. The limits are in my body. I strain against them, stiff and cold, like iron bars.

The Saturday after Christmas I developed sudden, mysterious and massively painful back pain. I spent most of the next week in bed. These crashes feel harder than they used to. Every time I land on my knees, the scrapes sting longer, scar deeper.

It has been two weeks since Christmas. This week I went into the office four days, a feat I haven’t achieved in almost a year. I have had a big week. I cooked meals and did work and organized medical stuff. I watched documentaries and did laundry. I started the enormous task of organizing my life for the weeks after surgery during which I will be largely unable to participate. I have slept every night this week and woken around 7am. I am tired and sore but it’s manageable.

I can’t know how I will feel in two weeks. This constant inconstancy is so hard.

2014: The sum total

One cold and bleak winter.

One insurance change.

One breakup.

Two central lines.

Three new scars.

A bunch of appointments at the ambulatory infusion center.

51 infusion nursing visits.

48 dressing changes.

32 lbs of steroid weight gained.

One best friend who had a medical emergency and recovered amazingly.

One new niece.

One unexpected hospital admission.

One ambulance ride.

Eleven self administered epipens.

Twenty one days for which I could stand up for less than thirty minutes a day.

One bachelorette party in Maine.

One lounge night of 40’s music.

One trip to Seattle where I learned that I still had magic inside me.

Two and a half days in Portland.

Two weddings.

One new cousin.

One bridesmaid dress that just fit with the steroid weight.

2400 hours (100 days) spent infusing.

Three invasive procedures.

One trip to Water Country on a very hot day.

One new dog.

280L of D5/Lactated Ringer’s.

710 saline flushes.

230 sharps put into the container.

One roadtrip in a convertible.

Two days of apple picking.

100 squash eaten.

2000 lbs of potatoes mashed with butter.

One trip to Disney-on-ice with my nephew.

One trip to Salem around Halloween.

One less well loved hippie in the world.

One friend started midostaurin.

One pumpkin carved.

Dozens of times I felt like I was connected to the heartbeat of the world.

Two new pair of glasses.

Dozens of new squash recipes.

Zero coffee-mate due to its not being low histamine.

114 medical appointments.

97 days on the hospital campus.

7,665 pills taken.

Two new diagnoses.

Twelve bottles of liquid Benadryl.

7500mg of prednisone.

3160 ampules of cromolyn.

110 doses of IV Benadryl.

300 ostomy changes.

600mg of ketotifen.

One drug that helped a lot that I really thought wouldn’t.

Eight weeks of liquids and soft solids.

One white count normalizing.

One iron count in normal range.

Five weeks of feeling better.

One surgery planned for 2015.

10 lbs lost.

Four flights.

Five days in Colorado.

Several nights of crying to my friends.

More laughing with them.

60 times my father drove me to work.

Two times I needed to use IV meds after I drove myself somewhere and had to get a family to pick me up and drive me home.

Millions of times my friends and family helped me out.

272 nights I slept.

365 days I woke up.

Two obstructions after starting IV therapy.

365 days of immunodeficiency.

73 yoga practices.

75 researchers educated on mast cell disease.

42 health care providers educated on mast cell disease.

102 people I taught to use an epipen.

One person I talked through their first epi.

Hundreds of people met with mast cell disease.

Many new friends that make living with this a little easier.

One new website.

252 blog posts.

52 countries with MastAttack readers.

10,000 questions answered.

One big plan for 2015.

One year of living and not just existing with mast cell disease.