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Lisa Klimas

I'm a 35 year old microbiologist and molecular biologist with systemic mastocytosis, Ehlers Danlos Syndrome, Postural Orthostatic Tachycardia Syndrome, Adrenal Insufficiency, and an assortment of other chronic health issues. My life is pretty much a blast.

Bone marrow biopsy

Most people with suspected systemic mastocytosis receive a bone marrow biopsy as part of their diagnostic testing.  Sometimes people will have confirmed mast cell infiltration in another organ, in which case a bone marrow biopsy may not be needed. 
I know that once I needed a bone marrow biopsy, I sort of felt like my illness had hit the big time.  Like it was time to be really concerned.  My family and friends were really concerned because bone marrow biopsies are used to diagnosis serious diseases.  It is okay to be scared.  But the procedure was not even close to the worst I’ve had, and the pain was manageable. 
In the middle of long bones, there is a squishy center called bone marrow.  Your bone marrow produces most of your body’s blood cells.  The marrow is essentially organized tissue that holds the immature blood cells.
Red bone marrow is active and produces red blood cells, platelets, neutrophils, basophils, eosinophils, monocytes/macrophages, T cells, B cells and mast cells.  Yellow bone marrow mostly contains fat.  Red bone marrow is found in flat bones, like the sternum (breast bone) and the pelvic girdle (upper hip bones.)  In children, the femur (thigh bone) also contains red marrow.
A bone marrow biopsy removes some of the solid tissue from the red marrow to look for abnormal cells.  It uses a long, hollow needle.   Using this needle, a solid piece of bone marrow is removed.  This is called a core. 
A bone marrow aspiration, which removes some liquid from the red marrow, is often done at the same time.  It uses a syringe to remove a little bit of the liquid. 
When you arrive, you may be given IV sedation.  You usually have to request this in advance.  Generally, this is “twilight sedation,” in which you are awake but given medications to relax and manage the pain. 
If they are taking samples from the back of your pelvic crest, you lay on your stomach.  You receive a local anesthetic, typically lidocaine.  It will burn as the drug numbs the area.  (I’ve always found it really ironic that an anesthetic burns.)  A small incision is made in the skin at the biopsy site. 
A hollow needle is then pushed through the bone and into the marrow.  A syringe is attached to the needle and the person doing the procedure pulls back on the plunger to draw liquid into the needle.  This is called the aspirate.  When the aspirate is removed, it changes the pressure inside the bone and causes some pain.  Sometimes no aspirate is found.  This is called a “dry tap.”  If this occurs, another site is biopsied. 
After the aspiration, the biopsy is performed.  This uses a larger hollow needle that is pushed through the bone and into the solid marrow.  The entire procedure (aspiration and biopsy) usually takes about 30 minutes.
After the samples are taken, a sterile dressing is applied to the site with pressure to stop bleeding.  Once the bleeding has stopped, a new dressing is taped into place.  It is important to keep this dressing dry for 24 hours, as getting it wet can increase the risk of infection.  After 24 hours, you can shower or swim as usual. 
The biopsy site will be sore for at least a few days.  Avoid strenuous activity for a few days.  If you develop an (unusual) fever, severe pain, swelling, redness or drainage from the site, or uncontrolled bleeding, contact your health care provider.  This can indicate an infection.
People ask a lot if the biopsy hurts.  With twilight sedation, it hurt, but not badly, and not for long.  I was pretty sore for about a week after, with a throbbing pain that went down my right leg.  I didn’t have any problems otherwise.    
For people with mast cell disease, there are additional steps and precautions that need to be taken.  When I had mine, I premedicated 12 hours before the procedure, and was then given IV medications an hour before the procedure.  12 hours before, I took 50 mg prednisone, 150 mg ranitidine, 10 mg montelukast and 50 mg diphenhydramine.  One hour before, I received 120 mg methylprednisolone, 40 mg famotidine, and 50 mg diphenhydramine. 
Care must be taken with pain medication for people with mast cell disease.  I received midazolam and fentanyl.  I was advised by my mast cell specialist that I needed to receive twilight sedation for this procedure, as pain is a mast cell trigger, and could cause anaphylaxis for me. 
As always, make sure the medical team is aware of your disease and the procedure if you react/anaphylax/shock.  Always have your Epipens with you.  Never assume that they will have epinephrine in the room.
It is not unusual for multiple biopsies to be needed for diagnosis with SM.  The reason for this is that where the mast cells will cluster in the bone marrow is unpredictable.  Unless you put the needle in the right place, it will be negative.  If you meet three of the minor criteria for SM, you do not need a positive bone marrow biopsy for diagnosis; however, a positive bone marrow biopsy is the most common method of diagnosis.
After the samples are taken, they will be tested for several things.  The samples will be inspected under a microscope to see what types of cells are present and in what quantity, including how many mast cells are present.  There should be some mast cells present, but too many is problematic.  They will also see if they shaped normally, or if they are “spindle shaped,” in which they have pointy edges coming off them (like a star.)  They will use special stains in order to see different cell types, including Giemsa stain for mast cells.
Mast cells in the samples will also be tested for some receptors on their surface, CD117 (encoded by the CKIT gene), CD2 and CD25.  This is done by using special antibodies to these receptors that stick to the receptors, and can then be detected by the operator.  They will also be tested for the D816V mutation in the CKIT gene.  This is done by a testing method called PCR. 
The whole process is not super pleasant, but this test provides answers that are impossible to get otherwise.  And I think you’ll all agree with me that having answers is better than not knowing.



At Least I Don’t Have Cancer

It happened again today.

I was engaged in casual small talk with someone when the subject of my illness came up. I showed my PICC line by way of explanation.

“You have cancer?” he asked, voice low.

“I have systemic mast cell disease,” I answered. I knew where this was going.

“Oh. Well, at least you don’t have cancer.” His whole body language changed. It wasn’t cancer, so I wasn’t worthy of his sympathy. Not that I want it, really; but I’m worthy of it, I think.

At least I don’t have cancer.

In the US, people tend to categorize illness into three groups: cancer; physical illness that is not cancer; and mental illness. The amount of respect and understanding you are afforded descends in that order. To most people in the US, having a verifiable physical illness gives me more credibility than someone with mental illness (although it shouldn’t), but less than someone who has cancer. Even if that cancer has been treated successfully and is in remission.

My disease is sometimes considered a cancer, but sometimes isn’t. It depends on the organization. Some hospitals treat it as cancer; some treat it as an immunologic disease; some treat it as a hematologic disease. It’s so rare no one can agree on what’s best.

My disease is classified as a myeloproliferative neoplasm. This is a fancy way of saying that my body makes too many cells in the bone marrow. Know what else are neoplasms? Cancers.

My disease is usually propagated by a mutation in an oncogene. Onco- is a prefix meaning “cancer.” Know what other diseases are caused by a mutation in this same oncogene? Cancers.

If you have involved systemic mast cell disease like I do, and you present to most hospitals, do you know what department you will be seen in? Oncology.

If you have smoldering or aggressive systemic mastocytosis, systemic mastocytosis with associated clonal non-mast cell lineage hematologic disorder, or mast cell leukemia, do you know what kind of therapies you will receive? Therapies designed to treat cancers. This is mostly chemotherapy in doses that are roughly equivalent to those used for – that’s right – cancers.

Cancer is a broad term. It refers to over 200 diseases that involve unregulated cell growth. Hey, know what other diseases involve unregulated cell growth? I bet you do.

There is massive variation in morbidity and mortality among those 200 diseases. The term cancer encompasses diseases like pancreatic cancer, for which 5-year survival is 6.7%, even when identified in early stages, as well as thyroid cancer, for which 5-year survival is 97.8%. When looking at all types of cancers, 66.1% of patients are alive after 5 years. In early stages, some cancers require minimal or no treatment at all. Some cancers have become essentially chronic diseases through innovations in drug therapies. Some offer the promise of remission for the majority of patients. And some are fatal, always.

There is this truth that doesn’t get discussed openly a lot in the mast cell community: that some of us will die from it. While the majority (SM and CM) won’t, life expectancy for SM-ANHMD averages 85 months (see paper here:; for ASM, 41 months; for mast cell leukemia, 6 months. Many of us suffer progressive organ damage and repeat anaphylaxis, and eventually it kills us.

If mast cell disease was classified as cancer, insurance would be more likely to cover my therapies, including reconstructive surgeries, if needed; employers would be less likely to terminate me for illness-related absences; I wouldn’t be limited to a handful of treatment facilities; I would be more likely to have my pain controlled; I would be less likely to be referred to a psychiatrist when my symptoms couldn’t be managed; and I would have been diagnosed faster. Much faster.

There are obviously other aspects to living (or surviving) cancer aside from survival. There are financial issues due to loss of work and the general astronomically high expense of being sick. I know about that, as I have spent more than twice the cost of my education on my healthcare, all while having decent, employer-paid insurance. That’s just what I have paid out, not what I accumulated in debt. One difference here is that there are a significant number of charitable organizations dedicated to helping cancer patients pay for their treatment, or to assisting with incidental things, like transportation, cooking, etc. There are no organizations like this for me in my state. There is exactly one that I know of.

Cancer patients and survivors may also have to contend with body image issues due to disfiguring surgeries and tissue/organ removal. I have multiple scars from biopsies, tumor removal, organ removal, and am the proud owner of a colostomy. I would contend that gives me an idea of what it’s like to be disfigured.

For many cancer patients, there is the chance to become a “survivor.” There is a chance that their disease can go into remission. That will never happen for people with any type of mast cell disease. There is no cure for our diseases. For those that need chemo, it is essentially a lifelong process of on for a year, off for a year, or something to that effect. I personally know someone who has been on chemo for nine years.

The cancer “equivalent” of advanced mast cell disease, which I estimate to be Stage III chronic myelogenous leukemia, provides a 95% chance of 5-year survival. That would be an improvement for many with mast cell disease.

I want to be very clear about something: I do not have a problem with cancer patients or survivors. I feel a lot of empathy for them, especially as we have a lot of shared experiences. We go the same places, see the same doctors, take the same medicine, have the same procedures. I know what it is like to have a doctor tell you how long you are likely to survive. I know what it is like to take dozens of pills a day, to spend 20+ hours a week at the hospital, to be so nauseous that you can’t sleep and so tired that your vision is blurry. I know what it is like to wonder if you will be able to do all the things you want to do before you die.

I have a problem with the idea in American society that physical illness is either cancer or not cancer, and that “not cancer” is inherently less severe. It particularly bothers me because advanced mast cell disease is so similar to blood cancers. But that’s not really the point. Is advanced multiple sclerosis less severe than prostate cancer, for which 5-year survival is 98.9%? Is HIV? Diabetes? The fact of the matter is that some people with HIV take their medications and exercise certain precautions, but otherwise live a pretty normal life. Someone with diabetes, a very well-known and manageable disease, gets a difficult to treat infection and they die. You can’t say cancer/not cancer because disease progression is inherently individual. Two people with the same disease can have completely different experiences.

The point is that disease is disease. It all sucks. None of us deserve any of it. We should all be afforded the same compassion and understanding. I love my life, I really do, but this shit is hard. It is really, really fucking hard.

But, hey! At least I don’t have cancer.