I’ve mentioned a few times that my daughter suffers from Essential Thrombocythemia, also known was Essential Thrombocytosis. Every time I say or write those words, people look at me as if I’m speaking a foreign language. Even my spell check doesn’t recognize either of those words.
The short version is that Essential Thrombocythemia, or Essential Thrombocytosis, is a condition in which your bone marrow produces too many platelets. Platelets are the components of your blood that make your blood clot when you cut yourself. They’re the reason we don’t bleed to death when we do something stupid like hold the bagel wrong while we’re slicing it, or cut off the tip of our finger when we’re using a meat slicer. Clots are good!
However, clots can also be bad. Clots are what cause strokes, because blood clots form inside of veins and cut off oxygen to the brain. Clots can cause pulmonary embolus or can lodge in the heart or lungs.
My daughter, forever known here as Batgirl, was given a diagnosis Essential Thrombocythemia when she was nine. We suspect she may have had it for longer. Here’s her story:
Batgirl started having headaches that I thought were migraines when she was six. We have a family history of pediatric-onset migraines, so it really didn’t strike me as strange, although there’s no doubt that it sucked. We took her to the doctor, and we had an eye exam that showed no problems. Doc suggested that dehydration was probably contributing, and we moved on. They eased quite a bit once we started making sure that Batgirl got plenty of water every day.
When she was eight, they came back with a vengeance. We again took her to see a doctor who said she was probably deficient in magnesium. On her orders, we started treating her with a daily magnesium supplement and giving her Milk of Magnesia when she got a headache. While the MoM helped her headaches, the magnesium supplement did little to change the amount of headaches. We went back to the doctor and she suggested more magnesium and a B vitamin. By this time, I was a little pissed that we hadn’t been referred to a neurologist and she hasn’t done blood work; in short, she was guessing about the magnesium deficiency. Some weeks, Batgirl was having three headaches a week. We decided it was time to switch pediatricians.
While we were waiting for our new patient appointment, she got a headache so bad that we took her to the ER. The ER doc suggested caffeine in the mornings and daily ibuprofen until we could get in to see a neurologist. He put in a call to our new pediatrician, and was able to expedite our appointment. Our new pediatrician immediately ordered an MRI, did a blood draw, and gave us a referral to a neurologist. He called the next day and told us to stop the magnesium and B vitamin. Her levels of mag were high, and her levels of B were stable. His nurse called a few days later and told us that her platelet levels were high, and that they were referring us to another doctor. She gave me the number and told me to call to set up an appointment.
I was a little nervous. The nurse, who I’ve known since she was in junior high school, wanted us to be sure to call the new doc today. Said it was urgent that we get her seen as soon as possible, even though it meant driving over four hours to the specialist. I called the doctor’s office and they answered the phone “Rocky Mountain Pediatric Hematology/Oncology Clinic.” I almost dropped the phone. I scheduled the appointment. I remember thinking that my voice sounded funny. I debated calling my husband, and then decided that this was “in person” news, not phone news.
I can tell you, I’ve had some moments as a parent when I’ve been knocked for a loop. My oldest kid routinely ended up in the ER because she inherited my inherent gracefulness and managed to fall down or bump her head hard enough to knock herself out or some other goofiness several times during her late teen years. Seeing her in an ambulance was scary. Seeing my son having a convulsive seizure in my hallway was scary. But those are fear in the moment kind of things. You’re scared and then things calm down and the fear eases somewhat.
But knowing that your child has an appointment with an oncologist? That shit doesn’t ease. It sits there, marinating in the dark recesses of your brain, where every single ugly, negative scenario that you can imagine plays out in high definition slow motion agony. I called my BFF and confided in her, then tried to get my shit together to go pick up the kids from school. Once, when I was in high school, a cute boy said hi to me and I felt all of my marbles fall out of my brain. I couldn’t think of a single reply. I just stood there, smiling, trying to remember what I was supposed to say to reply to him. Now, as an adult, I spent much of the afternoon of that phone call trying to find my marbles, but every time I found a few, they would scatter all over again.
I didn’t actually recover all of my marbles until a few days later. I had to wait to tell my husband, because I wasn’t yet emotionally able to offer the support I knew he would need. I barely had all of *my* marbles together; there was no way I could help him pick up his when they fell.
Essential thrombocythemia is generally diagnosed through elimination. First, we had to have another blood draw at the oncologists office. Often, high platelets are caused by something going on inside the body. This is known as reactive thrombocythemia or reactive thrombocytosis. Our doctor noticed that Batgirl had a low ferretin level, which both could cause the high platelets, and could cause her headaches. She immediately put us on an iron supplement, and scheduled us for another blood draw (we did most of our follow up blood draws locally, thank goodness).
In the meantime, she had an MRI, which came back clear. When we saw the neurologist, we gave him the CD of the MRI, and he said that she was young for pediatric onset migraines, but that it wasn’t unheard of. He prescribed Maxalt and anti-nausea med, and told me to call him if anything changed. He told us we could stop the caffeine and the ibuprofen, but the oncologist had told us to keep taking the ibuprofen, because it makes platelets less sticky, so they are less likely to form a clot.
This continued on for several months. Batgirl’s platelet levels continued to climb. After four months, our doctor had us come back up to Denver where she did another exam and then did a blood draw for a genetic test. If Batgirl had indeed had reactive thrombocythemia, her platelet level should have returned to normal either with time, or with the iron supplement. Instead, her platelets had continued to go up. She told us it would take six weeks for the tests to come back. It took almost eight.
Finally, we had our diagnosis. Essential thrombocytosis, positive for JAK2 mutation. Our oncologist switched Batgirl from ibuprofen to aspirin, because aspirin does a better job of preventing clots than ibuprofen. Of course, we were hesitant about that choice, because aspirin causes Reye’s Syndrome. So not only did I need to read about her new diagnosis, I needed to read about this as a possibility. Most people diagnosed with Essential Thrombocytosis are over 50; taking aspirin is no big deal for them.
We were about to learn just how rare Batgirl’s cancer is. I joined a Facebook group for Essential Thrombocythemia, and found only a handful of parents there. The vast majority of members in this group were in their 50s or older. The few parents in the group started chatting, and before long we formed a group for pediatric onset essential thrombocythemia. I learned that Batgirl is one in ten million, and most of the treatments available to her weren’t proven; there were hardly any studies on life expectancy of children who developed this form of blood cancer, because there have been so few cases. Of the few parents in our Facebook group who are active, only a couple are from the United States. The rest are spread out throughout the rest of the world.
For the worries about Reye’s Syndrome, we were cautioned that Batgirl should not get the flu or chicken pox. For the first time, we all got the flu shot in 2016. Chicken pox is no problem, since she’s vaccinated for it. We put together a health plan with the nurse that explained to teachers that they needed to watch for signs of deep vein thrombosis or stroke. It’s odd that I have a ten year old child who is at a much higher risk of stroke than most elderly people I know. Because of her aspirin therapy, we also have to make sure she doesn’t get cut badly.
In November, Batgirl had a bone marrow biopsy and an ultrasound of her spleen. This was a relatively easy procedure (the bone marrow biopsy was done under general anesthesia) done at Rocky Mountain Hospital for Children. Everything went well. No scarring of her bone marrow and her spleen isn’t enlarged. Her platelets continue to climb (as of this writing her platelets are 1,453,000; normal is around 350,000). We are considering obtaining a second opinion; it’s not that we don’t trust our oncologist, it’s that this is so rare that we’re concerned we may be missing a treatment option.
Mostly, we just keep going. Some days, she’s really tired. She has random bone pain that is probably due to the Essential Thrombocythemia. We met with our local first responders to make sure they understand how critical her situation is; that way we don’t worry about them thinking we’re overreacting if we call 911 because she’s having stroke symptoms. Because yes, our ten year old could actually have a stroke. We’ve changed our diet to be more healthy; less gluten, more whole grains, more raw vegetables, etc.
Whether you’re the parent of a child who has a diagnosis of Essential Thrombocythemia (or Essential Thrombocytosis) or an adult who has that diagnosis, I’ve put together some links you may find helpful.
First, read my post about what to do if your child is given a shitty diagnosis.
This .pdf, from the Leukemia and Lymphoma Society, is a great starter information sheet for caregivers including school nurses and teachers.
This site gives a broad overview of ET.
This site has a pretty comprehensive FAQ about ET.
Voices of MPN is a great site put together by Incyte Corporation. They send you brochures, bracelets, and ribbons to help you build awareness.
National Cancer Institute has some good resources, too.