Looking back at when my son had immune tolerance induction
It was a terrifying time, but being cautious helped us avoid any major problems
Recently, I read an article here at Pompe Disease News that brought me back to six years ago, when my son Cayden was a newborn. The article, “Twins do well on high-dose ERT plus immune tolerance induction,” reminded me of when Cayden was going through a similar experience.
Cayden was diagnosed with infantile-onset Pompe disease on the day he turned 1 month old. He was the first baby in Pennsylvania to be diagnosed with Pompe disease through the state’s newborn screening program. Catching the disease early meant that he could be monitored and start treatment early.
When Cayden was diagnosed back in 2018, the only treatment option presented to us was the enzyme replacement therapy (ERT) Lumizyme (alglucosidase alfa). But before Cayden could start treatment, he’d have to undergo several tests and have bloodwork done. Doctors needed to know if he was CRIM-negative or CRIM-positive.
That stands for “cross-reactive immunologic material,” and it determines people’s ability to make the acid alpha-glucosidase (GAA) enzyme, which breaks down glycogen. Patients who can’t make any GAA are said to be CRIM-negative, while those who can make some GAA enzyme, even if it doesn’t function, are CRIM-positive.
Cayden is CRIM-negative. Because his body doesn’t produce any GAA enzyme naturally, he had to have immune tolerance induction so that his body wouldn’t fight the Lumizyme. As the Bionews article explains, “CRIM-negative patients, who can’t produce alpha-glucosidase themselves, are more likely to develop inhibitor antibodies against the replacement enzyme. These antibodies can make ERT less effective. To tone down the immune response, these patients often undergo immune tolerance induction.”
A parent’s valid concerns
Cayden received various medications to “shut down” his immune system. I won’t lie; hearing about all of that as a first-time mom shook me to my core. I knew that newborns generally don’t have great immune systems, and now doctors were telling me they’d have to completely wipe out Cayden’s.
In addition to all of that, Cayden’s medications meant he couldn’t receive any vaccines until he was about 18 months old. Getting him vaccinated was important to me. Knowing that he’d already have no immune system, essentially, and could get something life-threatening or fatal because he wasn’t vaccinated — that really scared me.
He was already weak because of his Pompe disease. Despite starting treatment early, he’s been affected by Pompe a bit more than other children with the infantile-onset type because his genetic mutations are considered particularly severe. Seeing the decline in his muscles and especially his lungs had me worried that he wouldn’t make it if he caught a cold or something. His immune system wouldn’t be able to do much to fight it off.
Thankfully, our experience with immune tolerance induction turned out OK. I credit my decision to keep Cayden indoors much of the time and avoid large crowds, especially during cold and flu season. I was willing to do whatever it took to keep my baby healthy, as any parent would.
Today, Cayden is current with all of his childhood vaccines and has been doing very well. His antibody count never reached concerning levels, meaning that the immune tolerance induction did its job providing his body with long-term tolerance for the enzyme replacement infusions. Honestly, that’s all I can wish for in such a scary situation.
Note: Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pompe Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Pompe disease.
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