Diagnosis & Treatment

Back in April, I met with the legend that is Dr. Qingping Yao. For the first time in my life, every aspect of my health was understood and validated. He listened to everything I said and never once ridiculed or belittled me for the extent of my knowledge regarding my own health, as some doctors tend to do. That alone allowed the dialogue to flow successfully in a way that never has before.

When asked who referred me, my Mom immediately said “we found you.” He looked back at me with a look of reassurance and said “I’ll take care of you.” He knew that Mayo Clinic failed me, even going as far to say that when Mayo Clinic can’t figure out what’s wrong with their patients, they’re sent to him. Had my case been more meticulously reviewed, he believes I would have eventually ended up in his care.

When you’re fighting for your health and a better quality of life, it’s of the utmost importance that you trust your doctor and feel understood. I knew this trip to Stony Brook and Mount Sinai would consist of putting feelers out to establish who I wanted to treat me. However, I left my appointment fully knowing that regardless of who I’d meet, I wanted to continue moving forward with Dr. Yao as my chief doctor. The extent of his knowledge and experience was profoundly impressive and I knew, without a doubt, he’d be successful in getting the answers I had so desperately been fighting for.

Autoinflammatory diseases are caused by genetic mutations, whether it’s one or multiple, so we knew that genetic testing would be the first step. At my appointment, he collected a vial of blood that was shipped to the DNA Diagnostic Center in Ohio to be analyzed. The results were going to take about 4-6 weeks to be finalized, so my Mom and I flew back home with an appointment to return in 8 weeks for an official diagnosis and treatment plan. As far as getting what I came for, I couldn’t have been in better hands.

We started genetic testing with the 6 Gene Panel that are directly related to genetic mutations associated with Periodic Fever Autoinflammatory Diseases. Prior to meeting with him, I had done extensive research to further educate myself on these conditions and what I’d be up against. However, due to missing primary biomarkers, I didn’t believe they applied to me. Having said that, I could not have been more wrong.

Of the 6 genes tested, the results showed variant mutations in 2 of the genes— specifically the NLRP3 and NLRP12 genes. Both genetic mutations are associated with different Periodic Fever Autoinflammatory Diseases. I was diagnosed with not one, but two rare diseases, both of which cause chaos across the board.

NLRP3 - CAPS

• Cryopyrin-associated Periodic Syndromes

• Identified as causative gene of CAPS in 2001

• Unknown function until 2006

• 1 patient per 1,000,000 / 2 patients per 5,000,000

• Possibly genetic (Mom is being tested)

• Risk factor for strokes

NLRP12 - FCAS2

• Familial Cold Autoinflammatory Syndrome, Type 2

• Discovered in 2008

• As of April 2021, 80 cases reported worldwide

• 1 patient per 260,000,000 (yes, a quarter of a billion)

• Not believed to be genetic

• Applying for financial grants to study and research further

In terms of treatment, we started with an FDA-approved biologic agent called Canakinumab (brand name Ilaris). The drug’s manufacturer, Novartis, typically arranges for a nurse to administer the first dose in your home. Due to how my brain and body reacts to certain stimuli, we didn’t feel comfortable with that option as we had no idea what to expect. It was important to me, my mom and my doctors that the first dose be administered in a controlled medical setting on the off chance something did go wrong. We started with a 150mg dose. Upon administration, I had no adverse reactions. I felt a little “spacey” but other than that, it couldn’t have gone better.

These kinds of medications can take 2-3 weeks to work enough to tell a difference, specifically 15 days for Ilaris. It’s been 22 days since my first dose and as much as I’d like to say I’m feeling better, I unfortunately cannot tell a difference. An induced flare-up did not go well and I’ve yet to have any symptom relief. Having said that, we knew that it was going to take some time to establish the correct dosage and frequency needed to get and keep me stable. This process will take months, so it’s a matter of holding onto hope and remaining patient in the meantime. I’ll have my second dose administered next week.

A factor that we’re seriously considering is that the FCAS2 diagnosis is incredibly rare. As of 04/21, only 80 cases had been reported WORLDWIDE. I’ve yet to find someone with the diagnosis. But due to the rarity and lack of understanding, it makes it difficult to differentiate between the FCAS2 and CAPS diagnosis. They’re very similar in terms of symptoms and diagnostic criteria, but are individual rare diseases on their own. My primary doctor, Dr. Qingping Yao, has already began applying for financial grants on behalf of medical science and research with the intent of learning as much as we possibly can.

What I can say is, I’ve never felt more grateful in the entirety of my life. My chronic illness and rare disease journey has been long, exhausting and overwhelming. There were times where I wanted to give up as my mental and emotional health began declining rapidly. Had it not been for the select few people in my life who refused to give up on me and believed in me when I didn’t even believe in myself, I would not be standing to fight another day. My support system is truly incredible.

In addition, to finally have a doctor who understands and can treat the complexity of these diseases is the most surreal feeling I’ve ever had. I spent 20 years being disbelieved and misdiagnosed that I truly started to think I’d never get the answers I was searching for. Dr. Qingping Yao changed that. He was a doctor I knew I could trust and rely on. He saved my life and my sanity and for that, I’ll forever be grateful.

In my next blog, I’ll be highlighting the specific Periodic Fever Autoinflammatory Diseases I was diagnosed with, as well as their associated genes and the specifics of those somewhat complicated topics.

I’m really excited to say that this is not the end of my healthcare journey and that I’m only getting started. I’ve been blessed beyond measure for the doors that have been opened for me, in addition to the incredible opportunities and medical science related projects I’ll be privy to. When I first set out on this adventure, I didn’t know what my future would hold. The only thing I was sure of was that if I made it through and survived, I wanted to be the person I needed when I was 13-years-old, hopeless and fighting for my life. To have the support and encouragement to take my story and run with it is by far the greatest blessing of all. I can’t wait to get rolling and continue sharing my story. Until next time!