Ruthless

I was discharged from the hospital last night. I was admitted on Monday after going to the ER. I wasn’t having anaphylaxis. I wasn’t sure exactly what was wrong. But I felt disgusting. I had a pounding headache and bad bone pain in both legs and my pelvic bones. I was exhausted. I was so tachycardic that it made me short of breath. My blood pressure was all over the place. I was miserable. Nothing I did was helping. So I went in.

I am adrenally insufficient. I have been for years, since daily high dose prednisone in 2013/2014. My body doesn’t make cortisol so I have to take daily steroids to compensate. When my body is under physical stress, I have to take more steroids to cover the additional need for stress hormones. If I don’t, it can cause a life threatening situation called an Addisonian crisis. I had a crisis in May 2014 that lasted several days. Since then, I am very careful to monitor my body for signs of low cortisol.

In case it’s not obvious where I’m going with this, I was having an Addisonian crisis. My cortisol level was almost undetectable. It didn’t feel like it has in the past and I have no idea what triggered it. I took some extra steroids and stayed a while to see how much it helped. I sat in my hospital bed all night, headphones in, doing work. Work is rapidly becoming the only thing in my life I can control.

I take a lot of medications. I take handfuls of pills every day. I use IV meds and IV fluids every day. I get weekly and monthly injections. The schedule I have to keep in order to accommodate taking all those meds is insane. I basically take medication every thirty minutes while I’m awake. I have to carefully time my meals and anything I drink. I can only exercise at specific times. I can only shower 1-2 hours after night time meds. I have to be very careful with things like public transportation and going to a crowded place in case I get stuck somewhere.

I professionally develop diagnostics to determine which patients will benefit best from clinical trial therapies. It is easier to develop diagnostics than to manage my health from day to day.

People often ask how I am able to travel and work full time. IV Benadryl is not the entire reason I can do those things but it is a huge part of it. I have been using IV Benadryl at home for almost four years. It has kept me out of the hospital on many occasions. It has prevented many reactions from turning into anaphylaxis. It gives me much more control in emergency situations and has kept me safe in many situations that could otherwise have been catastrophic.

Despite how much this drug has helped me, I literally get anxiety thinking about how much IV Benadryl has helped me. The reason for this is that it is a nightmare getting ahold of it. It is not expensive and it is not a controlled substance. Still, getting this is a weekly stressor. I get all my IV meds, infusions, and line care/nursing through a home infusion company. Despite the fact that they provide me with a supply of everything else I need several days before I need them, they will not do this with Benadryl. My doctor has asked. I have asked. My nursing team has asked. I have asked all the people who can be asked. The pharmacy will not do it. Instead, they insist that they deliver me meds on the day that I will be out of them, meaning that if that order does not arrive as expected, I could be out of medication.

I have been a patient there for four years. My nursing care and line care has been amazing. That’s why I have stayed there. I have had a continuously used central line for all that time. I have never had an infection. The reason I have never had an infection is because I adhere to really extraordinary guidelines pertaining to contamination. If I think there is a tiny chance that something is contaminated, I just throw it away and start over. If a needle slips, or I drop something, or accidentally touch a surface with the syringe, I throw it away. This means that I throw away a vial of Benadryl every few days. I have asked the pharmacy to provide me with a few extra days of meds every few months to cover for this situation. They won’t.

The worst part of this whole situation is that my meticulousness, which is regularly commended by my providers, means that I am already working with less medication than I should be. Compounded with this pharmacy’s actions, I have been left without medication on several occasions.

Someone new at this pharmacy recently decided that they would send me my meds a day early. This seemed like a great plan. I was totally onboard. But I was still nervous that it would get messed up. It also didn’t allow for short term changes or short notice deliveries. Earlier this week, when I was in the ER before being admitted, I had to use my own meds for more frequent dosing because they weren’t getting my meds on time. (This was acknowledged and approved by the ER team – I would never do this unless they were aware and onboard.)

The bottom line is that my pharmacy delivery is going to be a day late again after being assured again today that it would arrive today. Because I had to discard two vials over this past weekend for possible contamination and I needed to use extra on Monday (as directed), I am now out of this med. Again.

I had a legit breakdown tonight when I realized that I was going to be out of this med again. Screaming, hysterically crying, the whole thing. This has been such a struggle for so long over something that is really, really stupid to argue about. No one argues that I don’t need the med. I don’t take more than I am directed, ever. No one argues that I should discard anything that might be contaminated and start over. But no one in any position to authorize something as silly as giving me three or four extra vials a week will do so. So I will be up all night hoping I don’t end up having anaphylaxis and going to the hospital if I have serious symptoms that could potentially become anaphylaxis even if they didn’t start that way.

I am very, very tired of this life. I have lots of good days. But as time as gone on, the bad days have gotten much worse. There is no aspect of living with chronic, life threatening health problems that is not stress. I really want to just rip this port out and stop taking IV meds and stop working and stop fighting every single day. I just want to rest. I want it to be quiet. I don’t want to have to explain myself over and over and beg people who just don’t care to help me.

 

There is a ruthless truth to chronic illness, one that has taken me years to come to terms with. It is this: that fighting against my illness and the life it gave me is not a successful way to improve it. I cannot overcome this disease. I can only cooperate with it. I have to learn to live with it, have a relationship with it, greet it every morning and say goodnight when I close my eyes at night. It is a part of me that cannot be cut out or ignored. And to have a life with it, a good one, I have to want that life. I can’t fight for a life I don’t want. My insistence upon having a good life with this disease is not a choice. It is a survival mechanism. It an instinct.

I know that this will pass, but there are some days when I don’t want to do this.

I don’t want to fight anymore. I don’t want to be afraid.

And tonight, I don’t want this life.

The MastAttack 107: The Layperson’s Guide to Understanding Mast Cell Diseases, Part 76

I get asked a lot about how mast cell disease can affect common blood test results. I have broken this question up into several more manageable pieces so I can thoroughly discuss the reasons for this. The next few 107 series posts will cover how mast cell disease can affect red blood cell count; white blood cell count, including the counts of specific types of white blood cells; platelet counts; liver function tests; kidney function tests; electrolytes; clotting tests; and a few miscellaneous tests.

89. How does mast cell disease affect platelet counts?

Before I continue, I want to explain one basic fact. Even though they are often included in the term “blood cells”, platelets are not actually cells. They are actually pieces of an original large cell called a megakaryocyte that lives in the bone marrow. Even though platelets are not really cells, they more or less act like they are.

An unusual thing about platelets is that sometimes a specific trigger can cause platelets to become lower or higher.

There are several ways in which mast cell disease can make platelet counts lower.

  • Swelling of the spleen. This can happen in some forms of systemic mastocytosis, and may also happen in some patients with mast cell activation syndrome, although the reason why it happens in MCAS is not as clear. Swelling of the spleen can damage blood cells and platelets, causing lower platelet counts. If the spleen is very stressed and working much too hard, a condition called hypersplenism, the damage to blood cells and platelets is much more pronounced. This may further lower platelet counts. Hypersplenism occurs in aggressive systemic mastocytosis or mast cell leukemia. It is not a feature of other forms of systemic mastocytosis and I am not aware of any cases as a result of mast cell activation syndrome.
  • Medications. Some medications that are used to manage mast cell disease can cause low red blood cell count. Chemotherapies, including targeted chemotherapies like tyrosine kinase inhibitors, can cause low platelet counts. Non steroidal anti-inflammatory drugs (NSAIDs) are used by some mast cell patients to decrease production of prostaglandins. They can interfere with platelet production in the bone marrow. Proton pump inhibitors, often used by mast cell patients to help with GI symptoms like heart burn, can decrease platelet coun Some H2 antihistamines can also lower platelet production. However, none of these H2 antihistamines are currently used in medicine.
  • Heparin induced thrombocytopenia. Mast cells make and release large amounts of heparin, a powerful blood thinner. When there is an excessive amount of heparin circulating, it can cause your body to incorrectly produce antibodies that cause an immune response to heparin. A side effect of this situation is that platelets are activated incorrectly, which can lead to the formation of blood clots and low platelet counts. Heparin induced thrombocytopenia has only been definitively described in patients who receive medicinal heparin as a blood thinner. However, it is reasonable to assume that this situation can also affect mast cell patients who have higher than normal levels of platelets circulating in the blood.
  • Liver damage. Liver damage is associated with malignant forms of systemic mastocytosis such as aggressive systemic mastocytosis and mast cell leukemia. Liver damage can also occur as the result of IV nutrition, which is sometimes needed by patients with mastocytosis or mast cell activation syndrome. When the liver is damaged enough, it may not make enough of the molecules that tell the bone marrow to make platelets.
  • Excessive production of blood cells. In very aggressive forms of systemic mastocytosis, aggressive systemic mastocytosis or mast cell leukemia, the bone marrow is making huge amounts of mast cells. As a result, the bone marrow makes fewer platelets and cells of other types.
  • Vitamin and mineral deficiencies. Chronic inflammation can affect the way your body absorbs vitamins and minerals through the GI tract, and the way it uses vitamins and minerals that it does absorb. Deficiency of vitamin B12 or folate can decrease platelet production.
  • Excess fluid in the bloodstream (hypervolemia). In this situation, the body doesn’t actually have too few platelets, it just looks like it. If your body loses a lot of fluid to swelling (third spacing) and that fluid is mostly reabsorbed at once, the extra fluid in the bloodstream can make it look like there are too few platelets if they do a blood test. This can also happen if a patient receives a lot of IV fluids.

There are also reasons why mast cell disease can cause the body to make too many platelets.

  • Anemia of chronic inflammation. This is when chronic inflammation in the body affects the way the body absorbs and uses iron. It can result in iron deficiency. Iron deficiency can increase platelet counts.
  • Hemolytic anemia. In hemolytic anemia, the body destroys red blood cells. This can happen for several reasons that may be present in mast cell patients. Hemolytic anemia can increase platelet counts.
  • Iron deficiency. Iron deficiency for any reason can elevate platelet counts.
  • Excessive bleeding. Mast cell disease can cause excessive bleeding in several ways. Mast cells release lots of heparin, a very potent blood thinner that decreases clotting. This makes it easier for the body to bleed. It is not unusual for mast cell patients to have unusual bruising. Bleeding in the GI tract can also occur. Mast cell disease can cause ulceration, fissures, and hemorrhoids, among other things. Mast cell disease can contribute to dysregulation of the menstrual cycle, causing excessive bleeding in this way. It is not unusual for mast cell patients to have GI bleeding, as well as ulceration, fissures, and hemorrhoids.
  • Sustained GI inflammation. Sustained GI inflammatory disease can cause elevated levels of platelets. Given what we know about mast cell driven GI inflammation, it is reasonable to infer that mast cell GI effects and damage may also elevate platelet levels.
  • Clot formation. If a large clot forms, it can affect the amount of platelets circulating in the blood. Some mast cell patients require central lines for regular use of IV therapies or to preserve IV access in the event of an emergency. Blood clots can form on the outside surface of the line, inside the line, or between the line and the wall of the blood vessel it is in.
  • General inflammation. Platelets are activated by a variety of molecules released when the body is inflamed for any reason. This can translate to increased levels of platelet production.
  • Allergic reactions. Platelets can be directly activated by mast cell degranulation through molecules like platelet activating factor (PAF).
  • Heparin. Heparin can cause platelet levels to increase. As I mentioned above, it can also cause platelet levels to decrease.
  • Removal of the spleen. The spleen can become very stressed and work too hard, a condition called This situation is remedied by removing the spleen. Hypersplenism occurs in aggressive systemic mastocytosis or mast cell leukemia. It is not a feature of other forms of systemic mastocytosis and I am not aware of any cases as a result of mast cell activation syndrome.
  • Glucocorticoids. In particular, prednisone is known to increase platelet counts. Prednisone and other glucocorticoids can be used for several reasons in mast cell patients.
  • Third spacing. If a lot of fluid from the bloodstream becomes trapped in tissues (third spacing), there is less fluid in the bloodstream so it makes it look like there are too many cells. As I mentioned above, this is not really a scenario where you are making too many red blood cells, it just looks like that on a blood test.

For additional reading, please visit the following posts:

Anemia of chronic inflammation

Effect of anemia on mast cells

Mast cell disease and the spleen

MCAS: Anemia and deficiencies

Mast cells, heparin and bradykinin: The effects of mast cells on the kinin-kallikrein system

MCAS: Blood, bone marrow and clotting

Third spacing

Gastrointestinal manifestations of SM: Part 1

Gastrointestinal manifestations of SM: Part 2

The MastAttack 107: The Layperson’s Guide to Understanding Mast Cell Diseases, Part 72

The MastAttack 107: The Layperson’s Guide to Understanding Mast Cell Diseases, Part 73

Crazy

I took a long, hot shower tonight. Hot showers are my guilty pleasure. The heat and the standing in one place can trigger both mastocytosis and POTS symptoms. I can make myself do a lot of unpleasant things. I will not sacrifice this. I cannot make myself take a lukewarm shower. I just deal with the symptoms.

Tonight, I was in the shower, singing along to Operation Ivy, looking down at my bright red, splotchy legs and purple feet. The purple feet in the shower is a very classic symptom of POTS. It is a symptom I have had every single time I have showered for years. But tonight, it bothered me for some reason. I didn’t want any external confirmation that I was sick. It’s hard when you are literally living inside of an organic shell that reminds you at every impasse that it is deeply, fundamentally flawed. There are days when I don’t even want to look at myself.

I was accused of Munchausen’s Disease shortly before I received my diagnosis in 2012. The doctor told me that I needed to see a psychologist to be evaluated for Munchausen’s because there was nothing organically wrong with me. I called her bluff and went to the eval. An hour into the two hour appointment, the psychiatrist stopped making notes and ended the exam. “You don’t have Munchausen’s,” he said. “If you do, you’re not doing it right.” He wrote an exam note that he didn’t know what was wrong with me but that it wasn’t psychological. A few weeks later, I was diagnosed with mast cell disease.

The strangest thing about that situation is that a tiny part of me was hoping that this was all psychological. I hoped that I could receive therapy and feel my feelings and that it would make my health problems go away. It seemed easier than constantly fighting with doctors and getting an endless litany of tests that highlighted problems but never a cause. I was still undiagnosed at that point and I was tired. Very tired. And this little part of me was willing to accept that I was crazy if I could just feel better.

The result of repeatedly being accused of faking or lying or being crazy is that you start to wonder if you are. Even years later, you still feel the impact of those accusations. I was accused of inventing my disease more times than I care to remember. The result is ridiculous: II sometimes wonder if I’m really sick.

It doesn’t matter how much tangible physical evidence I have to prove this fact to myself. It’s like my mind just sort of breaks once in a while and stops accepting that I’m sick. It would be easier for me to accept that I might be crazy than that I will never get better and I will never be healthy again. The idea of forever with this body and these diseases is crushing.

I’m not crazy. This is real. I live under the burden of all the ways my body fails me. I will live with this burden every day for the rest of my life.

I am aching tonight in a way I haven’t in a while. I have bone pain in both legs and pelvic bones. All my long bones are throbbing. I have recently had blistering hives and diffuse bruising again. Last year, those were the first symptoms of vasculitis. In this moment, I don’t think I have vasculitis again, but there’s no way to know except to wait and see what else develops.

The bone pain is keeping me awake. So I’m just sitting here, wishing I were crazy.

Details of Yzzy’s bone marrow transplant

We need to talk about Yssabelle Eddlemon. Don’t worry. She’s fine.

In the eleven months since her HSCT (hematopoietic stem cell transplant, often called bone marrow transplant), Yzzy has become a bone fide legend in the mast cell community. The reason why is obvious: she has been cured of her mast cell disease, something the rest of us can only dream of. But the thing about legends is the facts sometimes get lost.

I have been contacted several times by families who want to contact her care team or the details of her treatment protocol/transplant procedure. So I would like to clarify what happened to Yzzy that necessitated a transplant and how it cured her.

Firstly, Yzzy did not have MCAS. She had SM, true, meets WHO criteria, just like in adults, SM. This is actually how our paths first crossed: she had dense colon infiltration like me, which isn’t terribly common. Yzzy had markers of progression of her SM towards a malignant form called aggressive systemic mastocytosis (ASM). She was already a very sick little girl when I met her and she got a lot sicker in the years that followed.

By February 2016, Yzzy was completely TPN dependent. She couldn’t take anything by mouth. She had mast cell reactions every day and anaphylaxis regularly. Her anaphylaxis episodes were terrifyingly fast. I’m talking seconds to administer epi. She spent a lot of time admitted to manage her anaphylaxis and complications of her SM, including central line infections. Her liver and spleen were swollen. She had very enlarged lymph nodes throughout her abdomen. Her kidney function wasn’t great. She had a ton of airway inflammation. Her GI tract was infiltrated by mast cells. She was a mess.

Around that time, Yzzy started having these bizarre, frightening episodes. She would spike a high fever (105°F and higher), get an awful headache, and become very nauseous. Eventually, the episodes also started causing significant upper GI bleeding, sometimes enough to require a transfusion. She would sometimes be unresponsive.

Patients with central lines are recommended to present to an ER if they have a fever over 100.5°F so she went to the hospital when it happened. They never had any idea what was wrong with her. There was never any indication that it was a line infection. After 3-4 days, the fevers would just resolve and she would recover. These episodes were also triggering her SM so anaphylaxis complicated these episodes further. Yzzy had a total of 22 episodes by the time anyone figured what was wrong.

In September 2016, a rheumatologist who happened to be covering the ER treated Yzzy when she had one of these episodes. For the first time, he thought he knew what was wrong with her. After a bunch of testing including bone marrow biopsies, she was diagnosed with a rare condition called hemophagocytic lymphohistiocytosis (HLH). HLH causes certain cells called macrophages to attack red blood cells, literally eating them. The red cells would break open, releasing chemicals, causing an inflammatory cascade called cytokine storm. The cytokine storm would cause the fever and the rest of the symptoms. The macrophages caused significant damage to her bone marrow.

We tried to avoid chemo when she was diagnosed. She did immunotherapy treatments for about two months. They weren’t stopping the episodes and she was decompensating fast. In November, Yzzy’s hematologist told us that he did not expect Yzzy to survive without a transplant and the odds of surviving the induction chemo and transplant were about 50% at best. But we had tried every other treatment and none of them were stopping the HLH. We had no choice. She was going to die without a transplant.

When Yzzy was diagnosed with HLH, she got a bunch of new doctors, none of whom knew much about mast cell disease. You may have read the Provider Primers series I wrote. These are primers I wrote for her new doctors. I also wrote a white paper on Yzzy, basically a manual for what to do in various situations. I highlighted important papers and sent them to her care team. And when it became obvious she was having a transplant, I aggressively advocated for them to use a specific myeloablative chemo protocol because there was a chance that could cure her SM. They agreed.

The four weeks before her transplant almost killed her. There was many times that I thought this was the end. The chemo destroyed her body. Her SM was the least of my concerns. But she survived the chemo and on January 12, she had the transplant.

Many of you know the story from this point – Yzzy’s body accepted the transplant and she improved steadily. Her SM is gone. Her HLH is gone. Her immunodeficiency is gone. She no longer needed TPN. She could eat a full, normal diet. Her port was removed. She hasn’t had anaphylaxis since the transplant. She is healthy. She is in second grade and goes to regular full day school. She takes one medication for her transplant and she will stop that med in January. She is off everything else. She is a miracle.

Yzzy got her transplant not because she had SM but because she had HLH, which would have been fatal. There was no other play. It was this or death. She would not have been eligible for transplant based upon SM alone. There are a few pilot programs for transplant in patients with ASM or MCL. They all require patients to have exhausted all other treatment options and to have terminal disease staging.

People who receive their transplants FOR their ASM or MCL do not do well. Currently, there are a few patients alive after four years, but they are very sick. The other patients have all died.  However, SM patients who get transplants for another disease sometimes do pretty well. This is the group Yzzy is in.

Keep in mind that Yzzy’s SM was not secondary to her HLH. That’s not why transplant cured her SM. SM is always a primary disorder. HLH is also a primary disorder. She would have gotten SM or HLH even if she had not had the other one. The reason the transplant cured her SM is because the chemo killed off her defective bone marrow that gave rise to her defective mast cells. Because SM is inherently a bone marrow/blood disorder, if the original bone marrow is effectively killed, the SM could be cured by replacing the bone marrow with healthy bone marrow. That’s what happened with Yzzy.

Unfortunately, Yzzy’s transplant has no bearing at all on MCAS patients as there is no transplant option for MCAS. I have been contacted by two people about pediatric ASM patients who will likely need a transplant at some point. If you are in this group of people, feel free to contact me. But keep in mind that Yzzy’s team had no real training in SM aside from me educating them. We kept her at that hospital for other, more complicated reasons. So the team who managed her transplant won’t be able to help other SM patients.  

If you have any questions about Yzzy’s transplant, please let me know and I will be happy to share.

Xoxo,

 

Lisa