Standing Up for Access to ERT: Upholding a Human Right

By Kara Ayik

About two years ago, filmmaker and rare dadvocate Daniel DeFabio issued a thought-provoking challenge. Choose an ordinary object, he posted, that symbolizes your rare journey.

Now, being the lover of metaphor that I am, this challenge was right up my alley. It didn’t take long to pick the white plastic chair. I stashed it in my backyard after snapping it up for a dollar at a yard sale where it had been positioned at the end of a driveway as a “last chance” item.

I chose the chair because of a seemingly innocuous comment my son Evren once made. He was probably about nineteen when I noticed him carrying the chair out through the garage. “Mom, the boys across the street want me to watch them play, so I’m bringing this chair out front.”

“Sure, Honey, of course.” But then I stopped and said to myself, Wait. This is just absolutely not normal. Something is very wrong with the fact that Evren needs a chair because he is too tired to stand, let alone join these boys in their ball game. I felt sick. I knew his strength was declining rapidly due to Acid Sphingomyelinase Deficiency (ASMD), his rare, multi-systemic lysosomal storage disease.

That memory evokes the pain that those of us who have loved ones with a progressive, debilitating and life-threatening disease like ASMD feel when we must watch out loved one’s physical suffering and decline. The grief is all-consuming and spiritually and psychologically wounding.

Fast forward to 2025. Evren has now been on an FDA-approved treatment enzyme replacement therapy (ERT) drug called Xenpozyme for two-and-a-half years, and his life has been transformed. With the improvements in his health from the ERT, Evren’s quality of life has increased dramatically, and we no longer carry the weight of wondering how much time he has left. Now we have a new object that symbolizes our journey.

It’s a Coband ball.

Coband is a rubbery bandage without adhesive glue that comes in a roll and sticks to itself like plastic wrap. During his infusions, Evren has the nurse wrap a strip of Coband over his IV, which is always inserted into his hand, so he doesn’t have to look at it. After the IV removal when the infusion ends and the IV cannula is removed, the nurse reuses the strip to apply a little pressure and hold a gauze pad in place.

One late afternoon after his infusion, Evren was feeling particularly playful as I drove him home. Through my peripheral vision, I caught sight of something small, round, and brown shooting about the passenger’s side. The stoplight turned red, so I turned to see what it was. Evren had a made a perfect little bouncy ball out of his Coband and was bouncing it off the door of the glove compartment. A wave of amusement washed over me. I smiled. Our lives were just different now, post access to treatment. We were lighthearted in a way that we never were before.

After almost a year on ERT, Evren’s energy and well-being noticeably improved. He no longer fears eating normal meals which used to cause severe gastric distress, and his spleen and liver are close to normal size. His lungs function better with no evidence of further decline. We are thrilled that he can stand in line and enjoy normal activities like concerts. “I could have never done this before the treatment,” Evren has often said.

But recently, painful memories have resurfaced of the unrelenting despair I felt when Evren could not obtain the drug, especially after others began accessing it through clinical trials, compassionate use, and eventually a conventional route following FDA-approval in 2022. It seemed that Evren was the only one left behind. We didn’t begrudge the others their treatment and were happy for them, but sitting on the bench as a spectator was hard when we had waited so long for our chance to participate.

Our despair over the lack of access, especially in the last six months of our journey, was crushing. Every single day I felt guilty, desperate, fearful, anxious, frustrated, and sad. The stress fried my nervous system and made me impatient and often irritable, especially in traffic and while waiting in any kind of a line, like the ones at a grocery store.  Woe to the driver who made me sit through a red light because he was playing on his cell phone, or the shopper who made a big giant line-stalling fuss over a twenty-five cent overcharge on an item that was supposed to be on sale.

What triggered these depressing memories? Recently, I learned that eighteen people with ASMD in the United Kingdom cannot access the ERT drug that has saved Evren’s life and given him quality of life. Other UK citizens with ASMD have access to the drug through a corporate-sponsored compassionate use program, but they and their families live with the knowledge that their access could end at any moment because of the expenses of infusion services and clinical monitoring.

The explanation for this needless tragedy is that a special committee of the UK’s National Institute for Health and Care Excellence (NICE) that weighs out a rare disease drug’s worth compared to its cost has twice declined to recommend the drug for approval to the National Health System (NHS). Thus, individuals with ASMD (and those not yet diagnosed) are forced to endure life with a debilitating, progressive, and ultimately fatal disease. Their loved ones are subjected to pervasive psychological and emotional pain, as they are forced to witness the suffering and inevitable decline.

Knowing that individuals with ASMD from fifty other countries already have access to the ERT makes it even harder to endure. Although logic informs our thinking about the risks of the bandwagon fallacy, surely the fact that multiple international governmental regulatory agencies saw the drug’s merit and approved it deserves some consideration. Did those dozens of international experts in drug efficacy evaluation really miss what the NICE committee members rooted out in their analysis?

The first time I heard that the drug was declined for approval, I was shocked. The second time it was declined following another round of negotiation with the corporation that owns the drug, I was appalled and angry. Though I’m conflict-avoidant, I envisioned myself boarding an airplane and flying out to give the decision makers from both sides a piece of my mind. In my head, a scene played out in which I scowl fiercely at the decision makers from both sides and don a mean teacher voice as I inform them, You’re not coming out until you resolve this. You add some. You subtract some. And both of you, stop being greedy. Then I hold up a big brass key and then lock them all in a room.

But as always, I sought to understand the conflict from a more nuanced and neutral perspective, particularly from the government committee’s perspective. Now being a (mostly) thrifty person who aims to use money prudently, I wondered, do the decision-makers really have the full picture of how well the drug works? Credible studies clearly establish that the treatment reduces liver and spleen volume and improves lung function. But is that all they take into account?

Some symptoms of ASMD are well-documented, whereas other known manifestations are not. Headaches are one of these manifestations. During our first visit for a natural history study and after mentioning four-year-old Evren’s headaches to a lead investigator, I was told that people with ASMD report having headaches from their early childhoods. At a clinic visit when Evren was much older, my eyes nearly popped out of my head when Evren pointed at a spot between eight and nine when asked to rate his headache pain on the pediatric pain scale from one to ten, ten being the worst pain imaginable.

Here’s a description of what happened when Evren had one. First, he would become unusually quiet and subdued, and his face would turn pale. He would mention that he had a headache, and then I would beg him to take some over-the counter pain reliever; sometimes he agreed, and sometimes he refused because he hated swallowing pills. In a short while, Evren would invariably end up in the bathroom with nausea from the pain. He would throw up, and then he would end up with a bloody nose from the force of the vomiting and his low platelet count, also from the ASMD. Our stark white toilet and sink would be splashed with blood and vomit. Then I’d get a cold, wet cloth to put over his forehead while he slept.

After about a year on ERT, Evren’s headaches disappeared.

According to the NICE committee’s logic, supportive care—in other words, an aspirin– is preferable cost-wise to paying for the drug that eliminates the headaches. Under this philosophy, paying for liver transplants and heart valve surgeries is a “better” use of money than paying for ERT, which prevents the damage in the first place and can even reverse it. Lung damage? Well, those who need it can be provided with an oxygen tank. As for the bleeding episodes from the low-platelet count (which ERT increases)?  Apply pressure and a bandage?

After deciding to learn about what the NICE committee had been told or read about ASMD, I was surprised to discover that the case history and rationale for the denials was published online with only minimal redactions. Their decision was made using assigned numerical values for quantifying suffering, care needs, and issues of mortality along with ratios for evaluating their interpretations of the drug’s benefits with its cost. Dutifully, they tried to note what they perceived to be flaws in study designs and missing elements in evidence packages, but their points seemed contrived and their expectations idealistic. By the end, I found myself clenching my jaw and slapping my forehead.

The bottom line is this: quantitative and qualitative evidence from multiple credible studies along with the recommendations of expert physicians internationally and testimonies from dozens of families like ours prove that the drug prevents suffering, halts and reverses organ damage, increases the quality of life, and prolongs life. A failure to approve this drug is an injustice and a disservice to the families who desperately need it. Access to therapy is a human right.

To the families in the UK living with ASMD: You are not forgotten, and your lives matter. Do not lose hope. People all around the world care about you, and this quest will not end until we are victorious.