What was seemingly a very normal day for my 6-month-old, Ryan, ended up being the night that changed it all. We were partaking in our bedtime routine when his breathing appeared to instantly change, sounding like he was having a harder time. In the beginning, I thought it was my anxiety of a first-time parent kicking in, but to my surprise, the breathing didn’t resolve. We anxiously called his pediatrician and she encouraged us to visit the ER. After 3 h and lots of tests later he was discharged with a diagnosis of “fussiness in baby.” The next day Ryan developed a fever and all we were told to do was “monitor” it. Fast forward a few months, he appeared to have another night where he struggled with his breathing, followed by “fussiness” and lastly a fever. Almost like clockwork, these incidents would happen every once a month. One night many months later while sitting in his room, attempting to soothe him, feeling so exhausted and frustrated, it clicked. Before conceiving, my husband and I completed genetic testing. We were told there was a 25% chance our child could have a rare illness called Familial Mediterranean Fever. Twenty-five percent chance felt unlikely. On that night it all came together. A quick Google search of symptoms and I was convinced; this was the battle we were facing.
The next step was to find a specialist to help us navigate through the next steps. We felt extremely lucky to have found Dr. Wayne Grody at UCLA who is an expert of FMF in the pediatric population. Upon meeting with him, he confirmed that the symptoms we were describing sounded spot on with FMF. He provided us with 2 options. The first, try a medication management treatment of Colchicine, and if it worked, we would know that we have a correct diagnosis. Option 2, provide blood work to look for the 2 mutations linked to an FMF diagnosis. We were hesitant to try medications without an official diagnosis and opted for option 2. Fast forward 3 weeks, we received the call confirming that 2 mutations were found, one of each that my husband and I were carriers for. By the time we got all of this together, the frequency and severity of the episodes intensified. Ryan would have an episode every 7 days, true clockwork. If he got hurt, the episode would begin a few hours post-accident and then followed up again in 7 days. Each episode would last 72 h, with changes in his breathing due to inflammation around the lining of his lungs, pain in his abdomen caused by inflammation of the lining of the belly, joint pains and a fever that would not break even with the help of fever reducer(s). At the age of 2 our son started Colchicine for medication of his symptoms. The first time that a week went by, and then a second week, and then a third and there was still no episode, we were beyond thankful for modern medicine and a doctor that guided us down the right path. From age 2 until 4.5 he only had a handful of breakthrough episodes. That felt like the biggest win!
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