Parent of a Medically Complex Child, “I am Always Choosing Between the Lesser of Two Evils”

My son Julian has always been a “sick kid.” He seemed to have infection after infection, picked up every cold that was around and was in and out of hospitals from 6 months of age onwards. It wasn’t until he was about five that I began wondering if his growing pains were normal or if they were too painful.

He had fevers, rashes and bouts of unexplained vomiting with terrible stomach pain. In 2015, we received genetic results that confirmed Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) a rare disease that affects one in a million people. There is no cure, but right away our specialists applied for a drug trial that would help symptoms and slow the progress of TRAPS. On top of this Julian also has a thrombophilia, asthma and a heart murmur. This new diagnosis to add to the list was hard, but Julian is so brave and positive. I was determined to find out everything I could about this rare disease to make sure that I could advocate for him in the best way possible.

At the start of 2017, after 15 months of being on this first drug, Julian’s symptoms were back in full force. His specialists decided to apply for the next drug, still an injection but this time daily. A week before we were due to start this new medication Julian collapsed while we were at a festival. He lost the ability to see and hear, and later asked me where I had gone because he was calling for me but all he could see was black. I was actually right there the entire time but he had no idea. How frightening!

In the ambulance he was having an ECG and the paramedic was asking him questions when Julian told him his left arm and left leg felt tingly. I don’t know much about heart issues, but I do know that didn’t sound right. Later, we left that hospital with another diagnosis, Long QT Syndrome. This bought with it a whole bunch of complications, certain medications used to treat TRAPS weren’t safe anymore, the medication that stops vomiting wasn’t allowed, asthma meds are to be used sparingly, along with follow up appointments with a cardiologist.

A few days at home and we were back in the hospital to start the new trial. The injection made Julian cry more than usual and the idea of it being daily was daunting but after half an hour he was fine so home we went. Twelve hours later it was a different story.

I’d never seen my little warrior in so much pain; he couldn’t sit up, move, or talk without screaming. He was so violently ill it was terrifying and for the second time in less than a fortnight, Julian was being loaded into the back of an ambulance. I felt in my heart that this was a reaction to his new meds, but no one had seen side effects this bad before. Maybe it was just a serious TRAPS episode that needed to be controlled? Either way, this same thing continued for 48 hours in hospital before it was narrowed down to an extreme reaction of his new medication.

The dose was decreased to half the original measurements and slowly the pain and nausea became more manageable. It was so severe that it damaged Julian’s kidneys, causing acute kidney injury. While all these terrible things happening, the drug was somehow still working for his TRAPS though, his inflammatory markers went down by 60% and he didn’t have a fever the entire time we were in hospital! So the drug works at the dose he is supposed to have it, but at what cost?

As a parent of a medically complex kid I often find myself choosing between the better of two evils. Go to school for social skills, or home school to minimise infections? Let him run crazy at the playground, or tell him to slow down because I don’t want his heart to race? Make him wear his mask out in public so he doesn’t get sick, or give in to him because he doesn’t like the stares? Go to the child birthday party, or keep him home safe?  Give the painful drug with potentially devastating side effects, or allow his TRAPS to progress to possible amyloidosis? That last one doesn’t have a clear correct answer anymore and in the meantime we’re all just playing it by ear. Watching him closely while slowly increasing his dosage till he reaches the level he is supposed to be at, the one that will give us good results and hopefully let him enjoy his childhood a little more.

Fingers crossed this starts working and he can start feeling like the brave, positive little boy I know he still is, even if he isn’t feeling it right now.

Fingers crossed more awareness is grown and a better future is achievable for all of those with a rare diagnosis.

*I have chosen not to name the medications used in this story as each individual is different and responds to medication in their own way.