Written by Makenzie Vandervort

You may remember us from our previous RARE Revolutionblogdescribing our wild-spirited warrior Josiah’s medical journey to a rare disease diagnosis of familial cold autoinflammatory syndrome (FCAS), a rare, inherited inflammatory disorder. So many things have changed since the last time you heard from our family!

Autoinflammatory diseases are diseases that are typically genetic and could be considered “immune system killers”. They make your body go into dysregulation and cause a variety of medical issues. Autoinflammatory diseases are managed by a whole team of specialists from rheumatology, immunology, haematology, GI, ophthalmology, ENT, and so many others. It really takes a village to make sure you can be healthy and function correctly with these types of genetic diseases.

To recap, our sweet son was diagnosed after 20 long months of suffering and so many misdiagnoses. They deemed our son a medical mystery till I started charting and plugging in his symptoms to Google. Every page was full of scary diseases, or cancer. Finally, I came across a website with a “Periodic Fever Syndrome Checklist”. After doing that 10-minute questionnaire it said consult with your doctor. So, I brought this checklist in, along with the chart I made of all his symptoms and what seemed like 100 photos and pictures of him during a flare up. After what seemed like a lifetime pushing for genetic testing, they finally agreed!

The primary immunodeficiency panel results came back, we were blown away with his now newfound genetic disease but now I knew I had to live life differently. For Josiah.

Josiah’s strength

Josiah is now three years old and it’s been over a year since his rare disease diagnosis. So many things have changed. Our son is now on a daily biological injection to help manage his disease symptoms. He also had a few surgeries to help his quality of life with the disease. He’s had tubes put into his ears and his tonsils and adenoids taken out!

Josiah also now has a diagnosis of level 3 (severe) autism spectrum disorder, so he is in ample amounts of therapy from occupational therapy, speech language therapy, special education and physical therapy. He also has an AAC (augmentative and alternative communication) device to help him communicate his needs and wants since he is non-verbal. Even with having hypotonia and severe joint pain in his lower limbs and having to combat that with his SMO (supra malleolar orthosis) braces he still loves to play outside, and he has a newfound interest in acrobatics and dance!

Advocacy and awareness raising

One year later I am a part of many different groups to raise awareness not only about autoinflammatory diseases but also about the needs of young patients with chronic conditions and those of the families who live through these types of experiences.

I volunteer my free time to be a council member for Strong Memorial Hospital’s paediatric family advisory board and I also work with their quality management boards to help improve pain management for paediatrics and how to train phlebotomists better to work with special needs kids.

I also sit on YP AREA (Young Patients Autoimmune Research and Empowerment Alliance) as a council member to help young patients advocate for themselves. All the council members are trained to be patient partners. We also volunteer our time with Children’s Miracle Network, FMF & AID and Autoinflammatory Alliance. I can say the biggest accomplishment I have had over the course of the year was getting a proclamation placed for autoinflammatory diseases and Josiah in our city to raise awareness. It was a huge step and a major accomplishment for me as a mother of a rare disease child but also as an advocate.

The rainbow after the rainstorm

Having a child with an autoinflammatory disease has its struggles and defeats. You constantly are living for the unknown, waiting for science and genetics to evolve so we can learn more about these rare autoinflammatory diseases. We’ve had one full year around the sun since Josiah’s diagnosis and I can say I wouldn’t trade this life for anything. We are truly blessed to have found so such support from friends, medical groups, our tribe of doctors and other rare disease patients.

We may be a zebra in this world but the rare disease community always comes together for each other.

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Find out more about FCAS here:rarediseases.org | familial cold autoinflammatory syndrome

Any medical information included in this article is not intended to form medical advice. It must not be used as a tool to help understand or assess potential options around diagnosis and treatment. Patients must consult a doctor to receive medical advice, diagnosis and treatment that is appropriate to their specific and unique circumstances.

Share your own rare disease story by emailing the RARE Rev team:hello@rarerevolutionmagazine.com

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