Hello, my name is Makenzie and I am a mother, caregiver and full-time advocate and nursing student to a rare disease warrior, Josiah. Josiah is a 2-year-old fun-loving boy who has been diagnosed with a rare disease after being misdiagnosed five times. I am going to share with you our memorable day—the day of his rare disease diagnosis

A 20-month journey to diagnosis

Josiah had symptoms since birth, such as rashes, pink eye (conjunctivitis), fevers of unknown origin, seizures, chronic infections, sensitivity to weather, extreme thirst and other weird symptoms. He spent several days at a time in the hospital and we spent weeks at a time travelling all over to see more than ten specialists. Despite 200 tubes of blood taken within the first 20 months of his life and our careful entries in a symptom diary, Josiah was finally declared a “medical mystery”.

I pushed for genetic testing and this was finally agreed, so we did the Invitae “primary immune deficiency disorder” panel. After a month, the day that I call our “memorable day” was here: 8 December 2022. Finally, we had our diagnosis, familial cold autoinflammatory syndrome with a subset of Raynaud’s.

Familial cold autoinflammatory syndrome (FCAS) is a rare disease caused by a mutation of the NLRP3 (also known as CIAS1) gene.¹ Josiah has a rare deletion mutation that is not in the databases yet. Around 300 people have been diagnosed with FCAS in the United States, and it occurs at a rate of less than 1:1,000,000 in North America and Europe,² so Josiah really is one in a million!

I remember sitting at my kitchen table crying, after months of doctors medically gaslighting my baby, and I thought, “Wow! I am not crazy!” I just held my little 21-month-old so tight and told him we will be okay. I couldn’t crawl up into a ball though—I had two toddlers to care for! Jayse, our older child, is very intuitive in my emotions so I had to suck it up and be okay for him. I had to carry on like the day was great, even though my mind was racing on the “what ifs”.

Moving forward with purpose

That night changed the course of how I am as a mother. I went to sleep knowing that my life after the diagnosis would be a different life with huge mountains to climb.

We shared the news with our family and friends by making a long Facebook post. Including all our raw emotions: happy, sad, anxious, fearful… nervous about treatment, anxious if he will live a normal life, but so ready and happy to get this journey to medical freedom and health going! I remember telling my husband that our little one has a rare disease and we need to get genetically tested—immediately. He was completely on board, even though he had zero clue what was going on.

With our family and friends rallied around us, we joined Children’s Miracle Network Hospitals to help with our travelling expenses—they have been a huge part of getting our rare disease story out there.

“It all feels like one big, tight hug. We are all Josiah Strong!”

Immediately after learning about Josiah’s diagnosis, I went into full research mode. I wanted to learn everything I could about this rare syndrome. Unfortunately, with rare diseases there is usually not a lot of information. I decided to take matters into my own hands. I found an international Facebook group with families like ours—that has been wonderful! I also got in touch with the National Organization for Rare Disorders. I attended a conference in April 2023, where I learned so much more. I used TikTok, Instagram and Facebook to turn my medical grief and mother guilt into something good: to help parents to not feel hopeless.

Climbing the mountain

Unfortunately familial cold autoinflammatory syndrome is not curable, but it is treatable. Josiah is managed by a diverse group of specialists and is currently treated with one of the interleukin-1 biological injections. Corticosteroids, non-steroidal anti-inflammatory drugs and painkillers may also be used to treat flare ups in FCAS.

Josiah has arthritis, for which he wears bilateral SMOs (orthoses that stop just above the ankles), and he has another condition called hindfoot valgus deformity too. He has also been diagnosed with autism and global developmental delay, because of the days and weeks he has spent at the doctors and hospitals. He participates in occupational therapy, physical therapy, speech therapy and special education. We also take part in advocacy programs and clinical trials when we can.

Although we may see a range of many different doctors, nobody has ever heard about FCAS so I usually have to bring my own literature and articles to educate them, but that is okay. As the days after his diagnosis pass, I am meeting more and more families all over the globe with the same rare disease as Josiah and with that I am starting to not feel alone.

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