By Matt Wilsey
We spent Christmas in Southern California with Kristen’s family. As an added bonus, we had the opportunity to spend the day with the Jennison family. Ann Marie and Jeff Jennison live in Orange County and have four beautiful children. Their two youngest, Charlie and Jane, were diagnosed with NGLY1 Deficiency in 2014.
Needless to say, having a rare disease is challenging. The hardest part is isolation. Given so few patients, it’s highly unlikely another family in your town or city will have a child with the same condition. While we are connected with NGLY1 families across the globe, it’s rare we get to see them. We do emails and calls frequently, but nothing beats in-person.
That’s what made this Christmas so special! It was wonderful seeing 3 kids with NGLY1 Deficiency playing together. Grace really seemed to recognize herself in her NGLY1 “cousin” Jane. It was as if she was looking in the mirror & saying to herself, “This person knows what I’m going through.” Amazing. The lights are on. We need to unlock these kids. A cure is out there. We just need to find it.