When you hear hoofbeats think…Zebras

September is thyroid and childhood cancer awareness month. However, I can’t start this story from the beginning because that isn’t where it begins. This whirlwind of events began when my aunt had her two children. First was my cousin Aza. My aunt was on bedrest by week 27 due to blood pressure issues. She says “Imagine that with no internet, computer, or smartphone!” During labor, my aunt’s blood pressure was out of control, and she had an emergency C-section. Next was my cousin Jack. Yet again, her blood pressure was very unstable, so bedrest began at week 31. The issues continued during this entire labor process as well. She almost didn’t survive this childbirth.
Eight days after her procedure, she was still in unbearable pain. Trusting her gut, she insisted her doctor take a further look. Thank God he did because our lives were forever changed. They took her in for an ultrasound and thought there was a spot on her liver. That spot turned into a rare tumor that was actually on her adrenal gland called a pheochromocytoma or “pheo” for short. This spot was the explanation for all her issues during childbirth. This tumor makes your heart race, gives you random bursts of adrenaline, and makes you feel crazy because it completely jacks up your body’s epinephrine and norepinephrine. Years later, she would participate in a study to know that out of the five women who were pregnant with this tumor, only two babies would survive… my cousins.
With her diagnosis, her brain back-tracked recalling her dad had the same tumor. Mind you, about two out of every one million people are diagnosed with a “pheo”, so having TWO people in one family was not a coincidence. Genetic testing was completed, and they found out that my grandfather actually had a gene mutation that causes multiple endocrine neoplasia type IIA (MENN IIA). Only 500-1000 families have this worldwide. Lucky us! This rare mutation causes tumors on the adrenal glands (pheochromocytomas), medullary thyroid cancer, and parathyroid hyperplasia or overactive parathyroid glands. These glands snuggle up to your thyroid. Now this is a dominant mutation, so every child my grandfather had had a 50/50 shot of getting this said mutation. All four of his children were tested. Only my mother and her sister had the gene. Each sister had two children who in turn had to be tested. I can still remember each night laying my small head down and praying for Aza and Jack’s tests to be negative. Prayers were answered! They were negative.
However, my mother is a pediatrician. So when she received the results for me and my sister, she had them redrawn and retested. The same results were laid before us… I had the gene and my sister didn’t. So within three months, my mom, my aunt, my grandfather, and myself ALL had surgery. Thyroidectomy’s, pheo removals, parathyroid removals and re-implantations.
Fun fact: the surgeons took one parathyroid gland and placed it in everyone’s arm muscle. They said they sowed it like a kernel of corn in their forearm. It worked for my mom and aunt but not for my grandfather. He still has hypoparathyroidism to this day.
Because I only had the beginnings of the cancer cells, I only had a thyroidectomy. They also placed titanium clips placed on my parathyroid glands, so they could easily be shown from a scan for future reference. This clips were placed out of curtesy of my aunt, who they had open for hours hunting for the last parathyroid gland that was embedded. This paralyzed one of her vocal cords permanently. Imagine not being able to read your small child a bedtime story because you cannot speak. Each year, I am screened for the parathyroid hyperplasia and the pheo. So far… nothing, but I continue to follow-up yearly with an endocrinologist to prepare because I am not an optimistic person, and you’ll see why as this story continues.
Fast forward 21 years later, and I have a son. The most blissfully amazing thing that has ever happened to me. Throughout my pregnancy, I was monitored to make sure my Synthroid or artificial thyroid hormone was enough for both me and my child. We also had in-depth ultrasounds throughout each trimester to ensure he was growing according to scale. When he turned one, I was filled with a sense of dread knowing we had to test my baby before the age of two. The first sample was not enough according to the lab, so we had to stick multiple times. As a neonatal nurse… I stick babies often, but holding your own child down is another level of trauma that’s burned in your brain. Of course, six weeks later when the test returned, it was positive.
I had prayed and cried out to God, since the day I found out I was pregnant that my stupid, stupid gene would end with me. Spare my child, I can handle me, but spare him. The unrealistic guilt I feel hits me in waves. No one really understands it other than my mom and my grandfather, as they’re the only two who passed it on. No matter what you convince your brain of… it’s still there. I’m in a constant war in my mind– Is it selfish to want a house full of babies knowing what I know? Knowing I can give it to the next child too?
When I was little, my mother hid LOTS of this information from me, but now I see why. It was heavy. Knowledge is power, but that doesn’t mean that the information doesn’t come without pain. In medical school, they taught my mom that hearing hoofbeats normally means think horses, but in my case it means to hunt for the zebra or the rarity in medical cases like my family. So, we made a trip this year to MD Anderson Cancer Center in Houston to see Dr. Waguespack, the expert on our type of cancer. He advised us to return at age four. We will then do more lab work to search for the increase in calcitonin levels (our tumor marker), which is something the thyroid tumor excretes. They will also perform some scans and ultrasounds. He said our goal is not to prevent the medullary thyroid cancer because we already know that will occur. Our goal is to prevent the metastasis of said cancer. So…we wait.
Birthdays are supposed to be happy times, but I feel like a little bit of my joy is stolen knowing we creep closer and closer to our next appointment, and closer to having to put him under anesthesia for the removal of a gland that will cause him to take medication for the rest of his life. Until then, I try to make September a good month. I try and forget that I gave this ugly thing to my son. I try and forget that my aunt has had to have two dissections of her neck because her cancer just keeps returning; her numbers never returning to baseline. She wears her necklace scar with grace as do my grandfather, my mom, and me. They may be reminders of the pain, but it also reminds us that we get to see another tomorrow. I hold fast that, God-willing, I’ll live a long, full life, meet my grandchildren, and become old and grey with my husband. This cancer may have touched us, but it doesn’t get to win. Give cancer the bird for me. I’ve got a few words for ’em!



