Raising Money and Hope for Unknown Syndromesposted on 09/20/2012 by Ashley
Katie is Co-President of SWAN USA, a non-profit that offers support, information and advice to families of children living with a syndrome without a name. She currently lives in Gig Harbor, WA with her wonderful husband and three fabulous children. Follow Ellie’s story HERE
I never thought this would happen to my child. The chances were in our favor. I would never be the one who had a child with special needs.
My third pregnancy was quiet and uncomplicated. I had always wanted a big family and couldn’t wait to meet our newest member. On April 22, 2011, I was finally able to hold my sweet little girl who had been comfortably resting close to my heart these past 42 weeks. With one final push she drifted into my arms and was surrounded by family. However, through our joy came a quiet hesitation: my heart said something wasn’t right. She wasn’t breathing on her own and she did not look like her siblings. Immediately, I knew there was something much more than I had expected.
Within a week, my greatest fear had become a reality…something was wrong on a chromosomal level. So I franticly started searching for answers. As we waited on doctors, therapists, tests, labs and phone calls we feared the worst that one day we would get a call that our baby had a degenerative syndrome. Thank goodness that day hasn’t come but neither has the phone call with answers. And so the vicious cycle of uncertainty took over every aspect of my life and I could not stop until I had the answer. I felt so strongly that we needed that diagnosis to move forward because with that comes a direction or even a possible treatment.
Our brilliant geneticist Dr. Lawson Yuen informed us that there was a test called exome sequencing that would give us the best possible chance at getting answers but it came with a hefty price, $16,000. Insurance wouldn’t cover this but in my mind that was not a barrier, just a hurdle on the pathway to results. We were referred to Give Forward and were so impressed by the look and feel of the site. I had never done anything like this before and didn’t like the idea of asking friends and family members for donations. But I knew this wasn’t about me and my insecurities. It was about Ellie and giving her the best life imaginable. I had to know if there was something we could be doing to help her and so we just went for it.
Quickly, the fundraiser took on a life of its own and so much more came out of this experience than originally expected. Give Forward coached us through the whole process and gave us a platform to share our story and bring awareness to children with undiagnosed syndromes. We received countless words of support and encouragement that gave us the fuel we needed to persevere. Having had hidden our struggle from so many, fundraising gave us a voice to reach out to others.
Through the success we were having with Give Forward, it empowered me to do as much as I could for the undiagnosed community. I met the president and founder of SWAN USA (Syndromes Without A Name) Amy Clugston, to learn about the organization’s mission and what I could do to help. I was so impressed by this AMAZING mom who was quietly sacrificing so much to help people like my little girl and me. She created an informative website filled with the resources I had been looking for but feared didn’t exist. There were tools for diagnostic searching, support groups for undiagnosed families and current information on the genetics community. She worked hard to form partnerships with organizations, such as the Rare Genomics Institute, by connecting families of the undiagnosed community with researchers who have recently been successful in getting results. I just knew I needed to be a part of something this wonderful and I immediately joined SWAN USA. When Ambry Genetics, the lab performing my daughter’s exome sequencing saw what we were doing, they reached out in a huge way and are generously providing four FREE exome sequencing tests per year to undiagnosed families.
It all started with a simple fundraiser that was just supposed to help us raise money for our daughter’s test but with the success of Give Forward, it has opened doors for so many more. We ended up raising hope.