Finding Friendship Through Diagnosis
Kristin Simonet, Board Member
We were on our first vacation with our first-born, Luke, who was then age 1, when Emmett’s mom reached out to us on Facebook. She said she saw some comments we made in an online group for children with MCADD, and reached out to chat because her son had recently received the same diagnosis.
MCADD, or medium chain acyl-coA dehydrogenase deficiency, is a rare genetic, metabolic disorder, recently estimated to affect only 1 in 50,000 people in the general population. Prior to its addition to the newborn screen, MCADD often went undiagnosed in newborns, leading to serious consequences before parents and medical professionals could determine what was going on. After Luke was born, my husband and I joined a few online groups for parents who had children with metabolic conditions. Our goal was less about education and more about understanding what life was like with this diagnosis.
My husband and I had a lot in common with Emmett’s parents, Chris and Amanda. We all had one boy, less than a year apart, diagnosed with MCADD via the newborn screen, and none of us had ever heard of the condition before then. We were also seeking connection from other parents that understood. Interestingly, Emmett, unlike Luke, was an even rarer case of MCADD because he was the first diagnosed case ever in the Northwest Territories of Canada.
When Amanda reached out, it was an instant friendship. We talked regularly about our boys and the stressors of the diagnosis, but we also got to know each other. Though we were over 2,000 miles apart, we chatted as if we were life-long friends, and all of us felt a little more comfort knowing we were not alone in navigating this rare diagnosis.
We each had a second child the following year. For us, an unaffected second boy, and for Amanda and Chris, a little girl with the second diagnosed case of MCADD in the Northwest Territories. We remained close, often discussing snack options and hospital stays. We also joked about visiting each other, and this summer, we made it happen when we hosted their family of four at our house in Woodbury. For one week, we joked about having three kids with the same rare condition under one roof, and what would happen if a stomach bug caused all three to show up to the hospital – would they even believe us?! (Luckily, none of our kiddos became ill).
Our friendship with Amanda and Chris started as a simple connection online, sharing a common diagnosis. But the connection was important, because it meant that we were not alone, and that others out there were living their lives with the same challenges, the same courage, and also, the same hope for our children.
It is these types of connections that the Family Achievement Foundation facilitates for families. Whether at the beginning of their journey, or in the later years with knowledge to share with others, parents dealing with a challenging diagnosis can all benefit, as we did, from knowing others on a similar path. And besides, now we have a reason to plan a trip to Canada.