Nine Year Anniversary - Rare Disease Day

It was actually the 16th Rare Disease Day, but for me and my family it was our ninth. It was late 2015 when our youngest was diagnosed with Addison's Disease and we became part of the rare disease community. I have shared in the past that Rare Disease Day is always the last day of February because every four years it is the rarest day of the year. Well, that was the case this year, but in addition to that it was a different kind of Rare Disease Day because I spent it in a Brewery....Yes, you heard that right, a brewery.

Component Brewery in Milwaukee to be specific is where I was. And the story here is about a family doing everything they can to support their son and the rare disease community at large. You see Component Brewery is the company of Jonathon Kowalske. But there is one thing that I learned in meeting Jonathon that he cares about more than the brewery and that is his family. He and his wife, Julie have three boys and their middle son is the one who introduced their family to the rare disease community. It was about 5 years ago when he was diagnosed with Malan Syndrome, a rare genetic disorder, caused by a change in the NFIX gene. Some of signs common in Malan patients are overgrowth, intellectual disability, vision and/or hearing impairment, skeletal anomalies, epilepsy and anxiety.

Jonathon had an idea a couple years ago. He wanted to make a beer that would send a message, and at the same time raise money for nonprofits in the rare disease realm. One of the resources that they found valuable was NORD (National Organization of Rare Disorders) and he and his family chose to work with them and donate proceeds from this campaign to them. But this is not just any beer - Zebra Hop - as it is named, is made using advanced brewing products and techniques. He wants this to represent the direction that medicine is going and needs to continue moving to find cures for all rare diseases. The name Zebra Hop is a shout out to the animal mascot for rare diseases, the zebra. The zebra is the symbol for rare diseases because in medical school doctors are taught that when they hear hooves coming to look for horses and not zebras. In other words, look for the most obvious cause of what is bothering the patient. We want doctors to start looking for the zebras, the rare diseases.

Other companies were supportive of Jonathon's idea. The artwork for the can was donated by Robot House. Blue Label Packaging Co. is offering to print labels for just the cost of shipping them. And the team at Arryved donated their time, talent and technology in the design, development and hosting of the Zebra Hop website -zebrahop.com . Jonathon shares, on this website, more about this campaign and the recipe for breweries to follow should they want to get involved. There are even some suppliers that are offering breweries a discount for making and participating in this campaign. This is really a complete campaign - from beginning to end Jonathon, his family, his team and NORD have put together to make this something another brewery can do.

And in Milwaukee, Wisconsin - a town known for its beer, on Rare Disease Day 2024 there were over 15 breweries that had their debut of Zebra Hop. Component, which does not serve food at their location had a food truck outside and a live band inside. There were families and friends there to support rare disease - and those conversations were incredible. There were also people just stopping in to have a drink after work. And in my zebra patterned shirt, I went and asked them what they knew about rare diseases and once the conversation started they kept asking questions about them - wanting to learn more.

I am a volunteer for RAN (the Rare Action Network) an arm of NORD and was there in that manner. As we left where I and a member of NORD's staff had been for dinner we faced east and saw the Hoan Bridge lit up in the rare disease colors. Another wonderful tribute to those fight rare disease and their caregivers. The Light Up for Rare campaign is a worldwide campaign where monuments, buildings and bridges lite up in our rare disease colors (pink, blue, yellow and green) for awareness. It was a day where I met so many people doing so much to make the world a better place for those who have rare diseases. There are times that I get down that we are in this community, but then I look at the people who surround me and I know how blessed I truly am.

If you or someone you know is involved with a brewery, please see www.zerbrahop.com to get involved. And as always, www.rarediseases.org for more information about rare diseases in general.