Cappuccinos at hospital cafes. Lattes with friends when we need time off from caregiving. Homemade drip brew carried in tumblers to doctors appointments. These are a few of the ways that coffee has been there with us on our rare disease journey.

In 2017 we welcomed our third son, Emmitt, into our family while living abroad in South Africa. A seemingly healthy bundle of joy, Emmitt began missing milestones in his early months. Towards the end of his first year, not only was he behind, he began having seizures. What started out as imperceptible eyelid flutters quickly morphed into constant seizures numbering in the hundreds each day. 

The developmental delay and epilepsy thankfully led to a referral for genetic testing. Several weeks later, we received an ominous email mentioning that Em’s results were in and that we would have to be present in person to receive them. That day marks the divide between life as we knew it and life with a rare disease-SYNGAP1. 

Not only was Em developmentally delayed and plagued with seizures, we learned that SYNGAP1 can come with a variety of other symptoms: autism, intellectual and physical disability, and aggressive and self-injurious behavior. All of these together would mean that Em needs specialized life-long care. Within a few months of this diagnosis, Emmitt suffered a life-threatening event while changing seizure medications. We spent eleven days in the hospital while he had thousands of seizures each day. Soon after, we made the hard decision to leave South Africa and return to the United States for his care.

Despite the massive challenges and heartbreaks we experienced in Emmitt’s early years, there have always been slivers of hope. Emmitt had access to great therapies and a caring medical team in South Africa. It was exceptional that he received a genetic diagnosis given his young age and the low availability of genetic testing in the region. After his diagnosis, we quickly engaged with a growing community online through Syngap Research Fund. This beautiful collection of families just like ours became a source of inspiration, a place to seek information, and provided a means for doing something to help Emmitt and others like him.

Just like a well-designed coffee blend, Rare Brew Coffee Co. is a harmonious meeting of two complementary parts. Our family’s journey and love of coffee is bolstered by the community and research efforts of Syngap Research Fund. Thanks to SRF, this little-known disorder is now at the forefront of rare disease research and is heading, with urgency, towards revolutionary genetic treatments. Because of this, Rare Brew Coffee Co. is excited to give a portion of each purchase to SRF. Our hope is that you will find your daily coffee even more enjoyable knowing that you’re contributing to a brighter future for families impacted by SYNGAP1.