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When I Found Out My Son and I Have the Same Rare Disorder

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I gave my son a rare disorder that led to cancer. Not a lot of mothers can say that, and I’m sure none would want to. I also advocated for him and ensured his cancer was taken away before it could spread.

At the age of 34, I thought I had almost everything I had ever wanted: a kind and caring husband, a beautiful 2-and-a-half-year-old son and a happy home in a nice neighborhood.

I had left my teaching career when my son was born and was hoping to have another child to complete our family. I got pregnant in January 2015 and quickly realized something was wrong. I was cramping horribly and spotting, but my OB-GYN said to wait it out and that I was likely about to miscarry.

After an ultrasound, the radiologist told me on the phone I had an ectopic pregnancy and needed emergency treatment. He also told me I had a mass on my adrenal gland and needed to follow up with my primary care doctor. While the loss of my pregnancy was shattering in and of itself, the “mass” was worrisome as well.

After several appointments with my PCP, she insisted I have a biopsy of my adrenal gland tumor. Then I did something that saved my life: I Googled. I wanted to learn everything about this adrenal situation. My only health issue over the years had been a diagnosis of anxiety with panic attacks that I had for seven years but was managing fairly well.

As I researched, I realized my symptoms fit many criteria for a rare type of tumor called a pheochromocytoma, which produces massive amounts of adrenaline and closely mimics panic attacks. My doctor completely dismissed my self-diagnosis and said she treated anxiety every day and had only diagnosed one person in her entire career with pheochromocytoma. I held my ground and contacted an endocrinologist who ordered several tests and saved my life. My fears were confirmed: I had tumors on both of my adrenal glands, which needed to be removed as soon as possible.

The seven years of panic attacks had actually been caused by an identifiable, physical problem. The test results, coupled with the CT, MRI results and several other tests my new endocrinologist was smart enough to run, led to a diagnosis of a disorder I had never even heard of: multiple endocrine neoplasia type 2A (MEN 2A). It’s a “rare genetic disorder characterized by an increased risk of developing a specific form of thyroid cancer (medullary thyroid carcinoma) and benign tumors affecting additional glands of the endocrine system,” according to the National Organization for Rare Disorders. I have medullary thyroid cancer (MTC), a rare type of thyroid cancer. The only treatment for all of these tumors is surgical removal, since traditional chemotherapy and radiation don’t work.

MEN 2A is also an autosomal dominant disorder, meaning my son had a 50 percent chance of having received the faulty gene from me. Over a long spring, summer and fall, we tested everyone in my family, and thankfully, everyone was negative. I was the first mutant of my family. Until, that is, my son was tested. I was completely devastated. I had prayed my son would be negative.

As a mother, I would have traded any amount of surgeries to keep my son healthy and to protect him from this life-changing disorder. I apologized over and over to my husband for causing this situation. The guilt still wracks me at times. I haven’t yet figured out exactly how and when I will explain to my son — this beautiful little human — our diagnosis. And to make matters worse, in order to prevent his thyroid from becoming cancerous, he needed to have it removed before he turned 5.

The time spent grappling with my son’s diagnosis, investigating the disease and preparing for his surgery included several major surgeries of my own. I had major open abdominal surgery to remove both of my destroyed adrenal glands. This left me with adrenal insufficiency — I take oral hydrocortisone daily to survive.

Adrenal insufficiency is manageable, but it comes with its own set of life-threatening worries. I find it’s similar to diabetes in some ways, mostly because I need daily medication to survive. It’s also different, however, because there’s no current monitoring system to test myself to see if I need more medication.

When most healthy people get sick, their adrenal glands support their immune systems and can produce extra cortisol. If I get the stomach flu and can’t take my oral medications, I can go into severe shock and need to go to the hospital to be treated. Unfortunately, given how rare it is, even the best hospital staff and emergency medical technicians may not know much (if anything) about adrenal insufficiency. So I live with the daily fear that if I need emergency treatment, no one will know what to do to save my life.

My quality of life has changed pretty dramatically. I’m exhausted by little things, and while I may have several great days, I also have days I’d rather spend in bed. My son is my reason for pushing myself to get out of bed in the mornings.

I’m still afraid. I’m afraid of being a chronically sick mother who never has the energy to play or do fun things. I’m afraid he will resent me for giving him this disorder. I suppose I live with a new kind of anxiety diagnosis.

A month and a half after my adrenalectomy, I had my thyroid removed, along with several lymph nodes, one of which tested positive for the MTC. The cancer had spread outside of my thyroid. We don’t know how much cancer is in my body now, but my team of doctors monitors the cancer closely and that’s all I can do at this point.

Once we finally got my son to a specialist, I had made up my mind: I wanted the surgery for him as soon as possible. My son had his picture taken at preschool two months before surgery, and I remember lamenting to myself, “This is the last school picture I will have of him without a scar across his throat.”

Five months later, we traveled across the country to find the best doctors. It was so much more difficult to be his mother during that trip than it had been being the patient through my own surgeries. No child should ever have to be hospitalized, but the surgery saved his life. A biopsy revealed he already had cancerous cells inside his thyroid. I realized the photograph was also the last school picture in which he had cancer.

Although we can’t entirely rule out the possibility he may develop other tumors in his lifetime, I’m doing anything and everything I can to make his life easier. I’m learning as much as I can about this disorder and planning to raise money for more research and raise awareness.

My life isn’t what it once was, but my diagnosis has taught me to see everything in a completely different way. Taking my son to the park used to be a bit of a chore, but now I relish the fact that I can walk him there and watch the pure unbridled joy on his face. I feel like life slapped me in the face — it hurt and it hurts still. That slap also woke me up to everything around me. I live on slightly borrowed time, but we all do. We just don’t always think about it every day.

Living in each moment and savoring it completely is a gift this disorder has given me and can never take away.

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Originally published: October 11, 2016
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