Treatment - Canakinumab/Ilaris

A month ago today, I had my second dose of Canakinumab / Ilaris. At the time, I hadn’t had any symptom relief. My skin flushing had worsened and my neurological symptoms had returned in full force. I had high hopes that this treatment would help but if I’m being honest, I began experiencing some these symptoms after this first dose. I didn’t want to believe the treatment could be responsible for those worsening symptoms, so I chalked it up to minor side effects and my body adjusting. But after the second dose, it was clear I was having an adverse reaction.

Prior to starting treatment, we were concerned regarding the hypersensitivity aspect, as some patients have experienced adverse reactions and had to discontinue use of Canakinumab. As a result of my traumatic brain injury during childhood, my central nervous system is in a heightened state of alert and sensitivity. We were very much aware of this and took necessary precautions to ensure administration would go as well as possible.

In terms of an adverse reaction, it’s not what you’d normally expect. Having said that, I want to emphasize that this treatment is not a typical “vaccination.” Canakinumab is an FDA-approved biologic agent used to treat illnesses associated with defects in the protein cryopyrin, also referred to as NLRP3. I didn’t have an immediate adverse reaction— it was more so over the course of 2-4 weeks.

Adverse reaction side effects:

• Severe skin flushing

• Skin radiating heat

• Rash near injection site

• Low grade fevers

• Headaches

• Increased fatigue

• Increased vertigo

• Tinnitus

In terms of treatment, I’ll be trying another FDA-approved biologic agent called Anakinra (brand name Kineret). Patients who didn’t respond well to Canakinumab have had success since switching to Anakinra, so I’m looking forward to giving it a shot. This treatment will be self-administered every day. I’ve never had a phobia of needles but the idea of self-administration does have me feeling a bit anxious. As I was stressing out about the next step and feeling like the last few months were nothing but a waste of time, I was about to be blindsided by another stroke of luck.

Shortly after returning home from Stony Brook with my diagnoses, I met with my local immunologist to update her, as it was she who detected the autoinflammation that kicked off my rare disease journey. The moment “CAPS” came out of my mouth, she immediately knew what it was. And not just that— she has a personal relationship with the “founder” of the disease, Dr. Hal Hoffman. I recognized his name as soon as she said it, as I had been reading his work to get a better understanding of my CAPS diagnosis. It was just about the last thing I expected to hear from her, I honestly couldn’t believe it.

Dr. Hoffman is a professor of Pediatrics and Medicine and Chief of the Division of Allergy, Immunology and Rheumatology in the Department of Pediatrics at UC San Diego / Rady Children’s Hospital. He traveled the world collecting vials of blood to prove his theory, all while finding the gnarliest waves to surf. In doing so, his lab was the first to identify the genetic basis of four human diseases, including NLRP3, the gene responsible for cryopyrin-associated periodic syndromes. The Hoffman Lab focuses on the genetics of rare human disorders. By using human genetics, molecular biology and translational studies, they search for new approaches to treat inherited diseases. Their studies of the NLRP3 inflammasome and innate immunity were instrumental in the development of the first effective therapies for cryopyrin-associated periodic syndrome (CAPS) patients.

Having the opportunity to meet and consult with Dr. Hoffman is something I’m feeling incredibly grateful for, especially since the first treatment didn’t go well. Having mutated genes resulting in both CAPS and FCAS2 is extremely rare. As of April of 2021, only 80 cases had been reported worldwide. I've still yet to find someone with the same diagnoses. With very little known about these conditions and only a handful of affected patients, it’s difficult to both understand and treat the diseases. However, if any doctor is going to be able to make sense of my body, how it’s reacting and what treatment would work best for me— it’s Dr. Hoffman.

Since starting my rare disease journey, this past month has without a doubt been the hardest, both physically and mentally. The monstrosity of debilitating and deeply uncomfortable symptoms had me bedridden and sleeping for days at a time. It was difficult for me to wrap my head around the fact that my body wasn't responding well to treatment. It was even more disappointing coming to terms with starting over. But this is the reality of living with a rare disease. It’s going to take time to figure out what my body needs and best responds to. For now, it’s only a matter of remaining patient and hopeful.