The Diagnosis

After consulting the ophthalmologists on the implications of HLA-B27, it was time for a formal diagnosis for the disease as a whole and not just the uveitis. We made an appointment at New York University Langone Medical Center Dept. of Rheumatology in Manhattan. Along with blood work, a full chest and spine x-ray and a urine sample, the doctor was quick to agree that the symptoms Dad had been seeing over time along with the HLA-B27+ marker were definitely attributed to one of the several diseases classified under the spondyloarthropathies. To test the advancement of the disease in the spine, he tested the range of his vertebrae (see: bend over and touch your toes!) to make sure there was still significant expansion (the ability for the vertebrae to separate from each other). Patients with advanced ankylosing spondylitis have vertebrae that fuse and therefore they cannot move apart from each other.

Thankfully, Dad is not a member of this category. All things considered, the state of Dad’s body is actually pretty darn good. X-Rays showed that there is only mild disc degeneration at C5-C6 vertebrae which is where he feels most of his pain. I am frankly thrilled that we caught it in time before it became more debilitating. I am ready for us to take charge of life and be able to eat and move and keep on showing up to gymnastics meets, soccer games, and for us to be able to cannonball into the pool in the summer and build snowmen in the winter.


We like to go on adventures.


To confirm the diagnosis and to hone in on whether Dad’s illness is specifically ankylosing spondylitis or IBD-related arthritis or something else in the spondyloarthropathy category, he will need to meet with a gastroenterologist and have a colonoscopy to see the state of his gut. Stay tuned! After that, the doctor will be comfortable prescribing a biologic called Humira to manage symptoms. However, because this medication is an immunosuppressant, we are going to take charge of symptoms primarily with diet first. This led us to discover The Low-FODMAP Diet, but more on that in the next post! We are so excited to share our meal planning into the future with you!


**We are so grateful to the staff at New York University Langone Medical Center Dept. of Rheumatology who were so intelligent, competent, and accommodating to us. WE want to give particular thanks to Dr. Samuels who listened to all of the explanations of symptoms and worked with us to achieve a diagnosis.


The Beginning

Two years ago, we went to our family friend’s vacation house. Dad and the kids decided to go swimming in the lake, even though we knew it was kind of gross and dirty. Hey, it was hot, and lakes are a ton of kid-friendly fun! We are the kind of parents that like to go on the rollercoasters, dig in the dirt, or maybe even go jump in that dirty lake. Well, hindsight is 20/20 (this is a funny pun and you’ll see why soon!) The little bits of whatever-it-was in this yucky lake got in Dad’s eyes and somehow scratched both of his corneas. He woke up the next morning with tons of pain, swelling, and redness in his eyes. This was a big dampener on our get-up-and-go lifestyle! No problem though, we thought. Both of us just assumed that the redness and the pain were going to end as quickly as they started, and a simple trip for some eye drops at the ophthalmologist would end of the trauma that came with this injury. It turned out that the pressure and redness in both of his eyes refused to subside, even after the cornea scratches were treated. This was only the beginning.


Normally, lakes are a lot of fun!


Soon after the corneas were treated with drops, two different ophthalmologists noticed that the problem here wasn’t just the scratched corneas. Instead, they went onto to manage the lingering symptoms of uveitis or inflammation of the uvea, which is the pigmented layer of the eye and includes the iris. Thank goodness they took charge; we were totally freaked out and knew something was very wrong when the shape of Dad’s pupil turned from circular to star-shaped or oblong. The addition of steroid drops to his healing regimen helped subside the swelling a little, but in the meantime, the ophthalmologists decided to do a full blood panel to exclude other origins of this uveitis.


This is not how one’s pupil should look.

The results came back pretty quickly. (Unlike the steroid regimen which took several weeks to taper off the treatment, and he had to do the tapering three separate times. Think months.) He was clear on all aspects of the panel like Lyme, Hep A-B-C, IgGs, IgMs, etc. except for a test called HLA-B27. After a lot of research, we discovered that HLA-B27 is a gene for Human Leukocyte Antigen, a complex that has a lot of genetic variation to fine-tune the immune system to detect any type of invasion. If the protein complexes made by HLA-B27 (called Major Histocompatibility Complexes) that display on someone’s white blood cells are a particular variant of the original type, it can confuse the body’s immune system into attacking healthy cells, therefore predisposing someone greatly to a variety of autoimmune diseases called spondyloarthropathies. Spondyloarthropathies encompass a variety of autoimmune diseases which include ankylosing spondylitis, irritable bowel disease, reactive arthritis, and rheumatoid arthritis, among others.

I’m not a doctor, but I do have my M.Sc. in Environmental Toxicology. I’m semi-qualified.

This genetic variant explained why a scratch on Dad’s cornea attracted a crazy immune response to his eyes (aka major swelling, redness, etc.), and explained even more why it was so hard to get it to go away. His immune system was overreacting to an infection from the scratched cornea and probably ended up continuing to attack its own healthy cells. Uveitis is a common symptom of the spondyloarthropathy disease class.

Suddenly, after putting together the information about HLA-B27 and his eyes, a whole host of other symptoms he’d been dealing with for many years of his life began to make total sense. Debilitating neck pain during periods of stress, stiffness and pain in the morning, and complete and utter digestive distress more often than not. These all seemed like the symptoms of this class of disease.

The idea that these symptoms which, though mild, had been interrupting our family by messing with Dad’s health was just unacceptable to us. We imagined the light at the end of the tunnel where he could feel great waking up in the morning, not be light sensitive, and most importantly, feel digestively regular enough to get up and moving with us! What we needed next was a diagnosis so we could move forward.

To Be Continued.