The Gift of Light

Hi! I’m Dr. Nasheel Joules, a 43 year old Internal Medicine physician. My husband is Mark Cornetti. We knew we were meant to be together forever after our first date at the Texas State Fair.  We are happily married for 10 years. As you are about to read, we’ve had many struggles but our love never faltered. Though our life turned out different from what we envisioned, we love God and feel blessed, which is evident in our Christmas display, The Gift of Light.  

I have Cryopyrin Associated Periodic Syndrome (CAPS), which is a rare autoinflammatory disease, affecting 1 in 1,000,000 people. Autoinflammatory diseases go undiagnosed or misdiagnosed for years. If not diagnosed and treated early, autoinflammatory diseases can cause permanent damage to the body and early death.

Mark and I have been deeply impacted by CAPS. This is our story… 

I was diagnosed with rheumatoid arthritis (RA) in 2012. Over time, despite the strong medications I took, the joint inflammation and pain became severe and persistent. By 2016, I was in so much pain every day at work because of severe swelling and inflammation in my feet, ankles, knees, hips, elbows, wrists, knuckles and fingers. I could barely move by the end of my 12-hour shift at the hospital. Because of my symptoms I also couldn’t drive. Mark had to drop me off at work in the morning, then go to work himself, and finally pick me up at the end of the day. He spent 3 hours of his day driving!  Every day, Mark brought me home in a wheelchair. Once home, Mark fed me dinner because it was too painful to hold a fork with swollen and inflamed fingers. By morning, the pain and swelling never went down, so Mark helped me shower, wash my hair and get dressed. Mark would implore me not to return to work, but I had to take care of my patients! We did this for 1 extremely long year. 

After going through 10 different medications for arthritis with no success, I concluded I must not have RA. We visited many rheumatologists in Dallas, but they all diagnosed me with RA.

In 2016, we visited the highly rated Johns Hopkins in Baltimore. They said I didn’t have RA. Instead, I had a non-identifiable inflammatory arthritis. The helplessness of not knowing what disease was attacking my body was extremely frustrating. 

My podiatrist finally told me in 2017 that if I kept working I would destroy the joints in my body. I reluctantly stopped working and hung up my white coat that year, at the age of 38. I then had more time to research my condition. After months of research, I concluded I had CAPS.    

We went to Mayo clinic in Rochester, MN in 2018. It was the 6th opinion on my arthritis. After a week of testing and still no diagnosis, I told the rheumatologist about CAPS and asked for genetic testing, which is the only way to diagnose CAPS.  The geneticist reluctantly ordered the test. THE TEST CAME BACK POSITIVE FOR CAPS! I finally had an official diagnosis after struggling for 6 years!! A weight was lifted from our shoulders when we finally had the correct diagnosis!

Unfortunately, the 10 different meds I tried for arthritis over the years aren’t effective in CAPS and caused permanent side effects and multiple hospitalizations for sepsis. Because of that, my body can’t handle the strong medication used to treat CAPS.

In 2020 I was diagnosed with Constrictive Pericarditis (CP), likely caused by CAPS. CP will lead to heart failure and death if the pericardium is not surgically removed from the heart (a pericardiectomy). We went to a highly acclaimed medical center in 2021 hoping to get a referral for pericardiectomy. We were dismayed when the CP expert told us I did not have CP and surgery wasn’t needed, despite test results pointing to heart failure. The cardiologist basically implied I was a hypochondriac. CAPS patients are often treated dismissively by doctors because doctors don’t have any knowledge of CAPS, let alone its complications. When a doctor doesn’t know something, instead of admitting they don’t know, it’s easier to make patients feel like it’s all in their heads. Treating patients that way is a disgrace!

After contacting a surgeon without a referral, I had my pericardium removed via open heart surgery in 2021. The pericardium tissue analysis confirmed constrictive pericarditis. The surgeon said if I had waited any longer to have surgery, I likely would’ve been on life support. Although the pericardiectomy provided some relief to my heart, the CP had already caused permanent damage to my heart so I’m still dealing with heart failure to this day.

Most doctors are not aware of autoinflammatory diseases, which is what makes a journey with this disease so challenging. Had I been diagnosed sooner, we could’ve avoided 10 years of suffering and complications. 

We hope The Gift of Light encourages you to bless someone this holiday season. Donate to the Autoinflammatory Alliance. Money donated will be used to support research, provide outreach, proper diagnosis and improved care for patients.