Greetings from Salt Lake City,
This is part 1 of 2 of two posts on SLC. Tomorrow I will post on our State Ambassador, Gina Szajnuk. Today, I’m happy to share a bit about another local advocate who is doing great work on behalf of the rare disease community in Utah. Season Atwater created the group Aware of Angels after her daughter, Asia became diagnosed with microdeletion syndrome. Here’s Season and Asia’s story in their own words:
“At the age of 2 years old, Asia began our medical journey with 2 tonic-clonic seizures. Over the next several years, her list of medical symptoms grew and grew. We were often told by her doctors that she would “grow out” of many of her symptoms but we felt it was more than that, so we kept testing her for a “diagnosis”. Asia had every test available to us including lumbar punctures, biopsies, MRI’s, & blood work. We also saw several different types of doctors including specialists and natural healing. No diagnosis could be found. Five years later at the age of 7, her neurologist put in a request for a genetic test called a microarray. He was very reluctant that this test would be approved by our insurance company but it was and we went forward. After a simple blood draw, we had our answer just a few short days later. Asia was diagnosed with a rare genetic disorder (2q23.1 microdeletion syndrome).
I was confused and angry when I received this result. I had put her through so much pain & discomfort looking for this answer and it came with a simple test. Why did I do that to her, why was this not an option earlier on, why won’t insurance companies pay for genetic testing, and why is this not available to everyone needing it when it could save lives and so much heartache?
Now we had the diagnosis, what do we do?
Asia’s geneticist recommended I look for a medical student that needed a “topic” to research for their doctorate program because there were no treatments, information or support available for her syndrome. Her doctor then referred us to family blogs and Facebook for information and some support on her rare syndrome-that is all he had available. So we did just that, joined a Facebook support group and hundreds of children later-we have a network of parents to rely on. At the time of diagnosis, she was 1 in 100 cases reported worldwide (this year with new medical technology and reporting, cases are closer to 300. Access and sharing of information is powerful!).
We have been inspired to organize Aware of Angels to help families just like ours. Many families have shared with me that they are going through a similar situation like we have experienced. They have no answers, support, treatments, cures or awareness for their rare or undiagnosed children; and often their insurance company will not cover the cost of expensive genetic testing.
The idea with Aware of Angels is to feature as many of these children as possible through an online submission, where their stories and images are shared. When their story is posted on the website they become “searchable”-meaning another family, doctors, or researchers in different parts of the world searching for answers to similar questions or gene variants can find them.
We also have an ongoing awareness campaign using the Aware of Angels Photography Project. We believe that awareness will equal research, there is power in numbers and information! A limited number of photo sessions for children with rare, genetic, or undiagnosed disorders are donated each year. These sessions provide the families with life long memories, and the images are used to raise awareness on a global level. The images from 2014 were not only used to raise awareness online but in local exhibits as well. The 2014 images have been on display at the state capitol, the University of Utah, and are currently some of them are on display at Primary Children’s Eccles Outpatient Center in Salt Lake City, Utah.”
You can find out more about Aware of Angels at awareofangels.org or at childgenetics@gmail.com.
Stay tuned tomorrow for more from Utah.
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Want to learn more about the Rare Action Network™ and how you can join? Visit us on our website here.
About Tim Boyd
Tim is NORD’s Associate Director of State Policy. He lives and works in Washington, D.C. Feel free to reach out to Tim at tboyd@rarediseases.org or at (202) 545-3830.