By Denise Zagos, Eagle Mountain, Utah
I had a lot of medical issues the first 25 years of my life, but no idea what caused them. The symptoms started when I was four years old: I had a seizure. I went to the doctor, but they didn’t know what was wrong. Fast forward 10 years to when I was 14, and I still experiencing issues and was diagnosed with manic depression. Five years later I went into full liver failure, and my doctors were still unsure what was going on.
At 25, I was pregnant with my first child and ecstatic at the thought of holding my baby in my arms… until what was supposed to be one of my happiest times took a double-life-threatening turn. My liver was shutting down half-way through my pregnancy. This was my second experience with liver failure, but this time, I had my unborn baby counting on my well-being for survival. I was desperate for answers, but several tests later, doctors were still unsure what was causing my liver to shut down.
Then, one of my many days at the hospital, a doctor noticed I was taking the meat and cheese off my sandwich during lunch. This wasn’t anything worth noticing, in my opinion – I did this often because I didn’t like those things. But the doctor realized these were protein-rich foods, and that triggered her interest. She ran more tests, and ended up diagnosing me with an extremely rare genetic disease that affects only 1 in 35,000 births in the U.S.: a urea cycle disorder (UCD). I finally had an answer. I had never had manic depression; it was a misdiagnosis of my UCD.
You can’t imagine how relieved I was to finally know what was causing my medical issues – but I was also confused by what this new diagnosis would mean for me.
I learned quickly that having a UCD means my body is unable to process nitrogen, which can lead to toxic levels of ammonia in my blood. If the levels get too high, that increase ammonia can lead to irreversible brain damage, coma or even death. Things like eating protein can cause ammonia levels to rise, which was why I always avoided things like meat and cheese. To keep my disease under control, I follow a strict low-protein diet – no more than 35 grams a day – and take daily medication.
A UCD diagnosis is life changing, and like any rare disease, it can feel lonely because so few people are affected nationwide. I found support in my family and best friend, and in online conversations with others within the UCD community from all over the country. It helps to talk to people who know what you’re going through.
Being able to connect with others with UCD has been so meaningful that I knew I wanted to get involved beyond my own experience. That’s why I helped launch UCD in Common, a new initiative that includes supportive, educational and interactive resources from videos to lifestyle tips, to low-protein recipes, to discussions and updates and more. The best part about the program is that it was developed by UCD patients across the country who understand exactly what other patients, caregivers and friends are going through when managing a UCD. In addition to the website, UCDinCommon.com, there’s also a Facebook community that fosters a community connection.
As I reflect on the day of my diagnosis, it’s clear to me how important it is for those with rare diseases to find community upon diagnosis, so they know they’re not alone in their journey forward. I hope sharing my story can inspire others in that situation to reach out and seek support. Helping even one other person would make my crazy 25-year misdiagnosis journey worth it.
Learn more: www.ucdincommon.com