Dear NBIA Family & Friends,
Beyond being a donor, I am also a "Partner in Hope" (monthly giver) because a stable funding base allows NBIA Disorders Association to better support families dealing with NBIA disorders. Through family conferences, newsletters, website, webinars, support meetings and communications with NBIA families and researchers, NBIA Disorders Association is a steady and reliable resource these past 25 years.
Our family's journey with an NBIA disorder has been desperately sad and unexpectedly joyful. Our sorrows, like so many others, come mainly from the natural progression of the NBIA disorder affecting our daughter. The joy has come from the love, the support, and the friendships we've found along the way.
Our Story
Early in January of 2013, my wife, Julie, and I were sitting in a tiny office, crowded with clinicians, reviewing the evidence they'd pieced together. After eight years of dead-ends, our path had led us to the Undiagnosed Diseases program at NIH and to this cramped, sterile office. There, the doctors told us what little they knew. It was terrifying. Josie had mutations on her PLA2G6 gene causing various malfunctions in her nerve cells, which resulted in excess iron in her brain. The condition was exceptionally rare and progressive. They said it would eventually kill her.
Additional details were a blur, partly because of our emotional state, but also because the clinicians had little information to provide. Research was sparse, and we were probably their first exposure to someone with NBIA.
Hope
The solitary piece of hope they gave us was a website address, NBIAdisorders.org, and news of an NBIA family gathering. They said, "We can't provide any more answers, but contact the NBIA Disorders Association. They've got a conference coming up in a couple months. Attend if you can. They will be able to tell you more."
We spent hours on the website. We read the disease summary. We read the summaries for other NBIA disorders. We signed up for the conference. We attended the conference. We met the clinicians. We made friends with families who understood our pain and bewilderment because they'd been through it all themselves. We saw the ways that the research was moving forward. And we discovered that potential treatments are making their way into the NBIA community.
L to R: Kallan, Josie, and parents Julie and Matt Ritzman live in Oakland, CA
Joy
It was such a relief to find hope after the diagnosis. The territory where we were headed wasn't completely uncharted, and it wasn't just a place of pain. We saw the potential to thrive and be happy.
I have come to feel a certain responsibility for the families diagnosed after us. They will need websites and conferences and research and clinicians.
But most especially, they will need hope.
Please help us provide that lifeline. Join us in becoming a Partner in Hope.
Gratefully yours,
Matthew Ritzman, Board of Trustees
NBIA Disorders Association
