RARE parents know the emotional turmoil of a medical emergency all too well. In the summer of 2014 Evren Ayik, who lives with ASMD, needed emergency treatment while more than a thousand miles from home. His mother, Kara, shares the valuable life lessons she learned during her tense dash to his side

By Kara Ayik

Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder. It results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down a fatty substance called sphingomyelin. Because of this, sphingomyelin and other substances collect in various tissues of the body.¹

Making memories

I think most individuals who live with rare diseases and the people who love them would agree that vacation travel can be challenging for a variety of reasons. Still, the opportunity summer vacations offer to create joyful, life-long memories and to just have fun is something no one should be deprived of, including those who might be fragile or need some extra care because of their rare disease. My parents and I both wanted those happy childhood memories for my sons, Evren, who lives with acid sphingomyelinase deficiency (ASMD), and his younger brother Erol.

It was summer 2014. My parents were continuing the annual tradition of taking a road trip back to their hometown in South-eastern Colorado with Evren and Erol. Every year, they would choose two or three US national parks to visit somewhere in the Southwest. Along the way, they would commune with nature, take tons of pictures and eat lots of treats each time they stopped for gas. Meanwhile, I would hold down the fort at home in California, just resting on my staycation.

My parents already knew that travelling with Evren meant extra vigilance. Having ASMD caused him to suffer headaches and stomach problems and have some cardio-respiratory limitations. He was just delicate and notably had a tendency to bleed excessively due to low platelet counts. Even a bloody nose could quickly turn dangerous. Another issue with children like Evren who have grown up all too familiar with pain is that they become accustomed to it. Pain is a familiar visitor, and they often react to its presence much differently than unaffected children might, that is with plenty of angst and probably some drama. Evren was, and still is, quiet about his pain. Over the years, we have been met with scepticism by healthcare workers who decided that Evren did not seem to be in much distress, leading them to conclude that it was unlikely that he was all that sick, when in fact he was. Every time.

So my parents grew concerned when, while smiling and posing for a picture at Arches National Park, Evren calmly told them his stomach had been hurting for some time. Now they were accustomed to the usual complaints of stomach problems from the ASMD, but somehow this pain was different. Evren told them so. At that point, my stoic parents decided to call me and let me know in their no-nonsense way about the turn of events. Our medical antennae went up. It was unusual for Evren to complain of pain, and I was a little concerned. I offered some suggestions, which they tried to follow, but none seemed to help.

About two days after arriving in their hometown, my mother decided to take Evren to the local emergency room. After an exam and a few tests, we learned that Evren had appendicitis. Because of the ASMD and need for extra caution with anaesthesia and potential complications, the ER doctor decided to transport him to Children’s Hospital Colorado, Colorado Springs. Evren, by now in a good amount of pain, perked up long enough to ask if he would be flying there in a helicopter. No, he was told, the trip would be by ambulance. Not as exciting as a helicopter ride, but still rather cool.

My father, ever the commanding officer, sprang into action and developed a plan. He called me up after buying me a one-way plane ticket from Sacramento to Colorado Springs. By this time, I had almost ten years as a rare parent, and I didn’t fly into a panic. But the adrenaline and anxiety began climbing as I threw a few things into a bag, made arrangements for the pets and set off on the route to the airport.

Highway 99

Driving up Highway 99 in the Central Valley in the summer is no walk in the park. The blinding sun beats down unrelentingly with no cloud cover or trees to shade the way, nor is there much greenery to rest your eyes upon, except for an occasional stretch of oleanders which tolerate the region’s extreme heat and drought. Driving the 99 means dodging aggressive drivers in crowded lanes lined on either side with greyish concrete, black asphalt and industrial buildings. It means paying attention so you can move over or hit the brakes as the semi-trucks merge in and out of those crowded lanes. Accidents and delays due to road repairs are common, and a traveller on the 99 is usually uneasy about the possibility of missing a flight due to traffic jams.

One hour into the tension-laden drive, I was near the halfway point when I began debating the wisdom of stopping for a cup of coffee, decaf of course, to calm my nerves. Did I have time? Would I miss my flight? The Jack Tone Road exit, a convenient stop midway to the airport, loomed on the horizon. By gosh, I am going to stop and get myself a cup of coffee! I decided to risk it.

Upon entering the Starbucks, no one greeted me, but I was okay with that. I felt relieved to be second in line because the wait would be fast. I stood there in line studying the pastries in the glass display case and then began to wonder why the person in front of me hadn’t moved on. But then I looked up and saw that the barista, a pretty young woman of about nineteen with a frustrated look and a dark blonde braid dangling neatly over her shoulder, was doing something odd. She held a little beaded chain strung with dozens of what looked like plain white plastic credit cards, and I watched as she determinedly swiped the cards through the cash register one after another, again and again. Something wasn’t working. Then I felt myself starting to grow tense as the seconds ticked away. I noticed four other baristas buzzing around the coffee machines and drive-through window, and I asked her gently and politely if maybe one of them could help her. She just ignored me and carried on swiping.

My blood began to boil as I stood there for what seemed like an hour, but was actually only five or six minutes, watching the swiping go on and on. This silly girl has no idea my son is in the hospital for emergency surgery, and I have a flight to catch. I felt my ordinarily low blood pressure rising dramatically, and my usual reserved and congenial state was giving way to rage. I was focusing on managing my anger at being forced to wait, ignored, through this card-swiping fiasco. By then, several more customers had come into the store and lined up behind me. Then mercifully, the right card finally worked, and the silent barista finished the transaction without so much as one look of apology or acknowledgement in my direction. By this point, I was seething. I took one step closer to the register, and with my lips pursed and my teeth clenched, I mumbled my standard coffee order, fighting the urge to snarl at her.

The barista cocked her head to the side in that way only adolescents can do, rolled her eyes and said in a sassy little tone, “You have to say it again. I can hardly hear you.”

Then I snapped. All the stress that had been bottled up in me and then heated up by the pressure of this medical crisis made me boil over. I glared at her, and then shouted my order at her at full volume: “ICED DECAF AMERICANO GRANDE IN A VENTI CUP EXTRA TWO PERCENT!” Always one to speak quietly, the sound of my own voice reverberating in the coffee shop shocked me. The noisy, humming Starbucks suddenly went still and silent. Out of the corner of my eye, I could see all the employees and customers stare at me and then quickly avert their eyes. She’s clearly crazy, they must have been thinking.

After an awkward wait (though the coffee was prepared at light speed), I jumped back on the freeway and caught my flight to Colorado Springs. It had not taken long for the remorse over my behaviour to set in. I knew the girl behind the Starbuck’s counter did not deserve that, and I had embarrassed myself mightily. I had been mean. But my thoughts quickly drifted back to my son. Would I make it in time to see him off to surgery?

Reunion

While on the plane, I envisioned my reunification with my son, who undoubtedly would be afraid and simultaneously overjoyed and relieved to see his loving mother before heading into surgery. He would welcome me with visible relief and a big, warm hug. I would kiss his little dark brown head, maybe shed a tear or two… it was all going to be so beautiful.

Except it wasn’t quite like that. I finally made it to the hospital to find that my son’s appendix had already been removed, and I found my ordinarily sweet, gentle boy as grouchy as a grizzly bear. He did not appear to be one bit pleased to see me and had an unusually irritable demeanour and few words for me. But I felt my heart move back into a warm and fixed place when I saw Evren. He was fine.

Just then the surgeon came to see me. She was an attractive young woman with long dark hair and a slight accent, who exuded confidence. She informed me that although Evren had bled more than expected during the surgery, all was well. He could leave tomorrow. I breathed a deep, deep sigh of relief.

Before my arrival, the surgeon had already reported to my mother that she had looked at Evren’s spleen during the surgery and suggested that “We really should think about having that removed.” That was potentially disastrous advice, as it is better for the spleen to be the reservoir for the sphingomyelin, a fat that cannot be eliminated due to the lack of enzyme, than for even more of it to build up in critical organs like the liver and the lungs.

The skilled surgeon’s ill-conceived recommendation is a perfect illustration about why rare parents and rare individuals can never go full throttle in turning over our trust to the doctors we do not know. The possibility of needing doctors in an emergency who don’t understand our diseases—and no one doctor can possibly understand them all—is just one more reason why vacation travel poses a challenge.

But even before the relief I felt after seeing the surgeon, something surprised me when I first arrived at Evren’s hospital room. The oppressive veil that had been weighing down my mood and my outlook had begun dissipating the moment I noticed a charming, handmade quilt covering Evren in his hospital bed. Sewn by a volunteer, the child-sized patchwork quilt featured a John Deere tractor. The warm, earthy colours and natural texture of the cotton quilt fabric with its noble, crisp design stood in stark contrast to the quintessential blue-green polyester hospital gown and bedding and the aluminium and beige plastic bed rails. Remarkably, that quilt emanated caring, love and kindness as though it were a light. That light of human kindness was what I needed then; it was what I craved without knowing it, and it had come from a complete stranger who would never meet the child who received it.

To this day, I have not been able to let go of the quilt which Evren padded his stomach with all the way back to California. It mysteriously still seems to emanate a light. I sometimes recall that summer trip and what I learned from it. When the heat is turned up during a medical crisis, our emotions become heightened, and we may experience feelings, both good and bad, with greater intensity. I also discovered that I did not want to be the spoiled coffee drinker who spilled negativity, but to be the quiltmaker who spreads kindness. Honestly, I haven’t become a saint following the medical emergency of summer 2014, but it’s worth acknowledging the barista and the quiltmaker for the lessons they helped me learn. I’ve made progress, but if I start to backslide, I have the tractor quilt to remind me.

1. Acid Sphingomyelinase Deficiency – Symptoms, Causes, Treatment | NORD. Accessed 26 April 2023. https://rarediseases.org/rare-diseases/acid-sphingomyelinase-deficiency/

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