The Aware of Angels organization was inspired by my daughter
Asia.
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 on display at Primary Children’s Medical Center. The schedule for our
2015 photo sessions will be opening the end of August. If you are interested in
a photo session for your child you can email us or use the scheduling calendar
or contact form on the website. We will give priority to the children with
serious health conditions, and if a photo session is needed soon don’t hesitate
to contact us now.
The other priority for Aware of Angels is doing all that we
can to help the undiagnosed. Whether it be providing information, referrals, a
post on our website, offering contact information or assisting with genetic
testing (if that is the next step). We know that genetic testing can provide a
diagnosis and answers for many children. The technology at this point will not
help everyone. If the test does not provide a sure diagnosis, it will often
provide gene variants which may be an undocumented disorder just waiting to be
discovered. We know that we would not have an answer for Asia if genetic
testing was not an option for us. Her diagnosis did not offer a cure or change
her treatments but it guides her treatments, our goals and our expectations. It
breaks my heart that so many are denied this option. We want to see more
insurance companies covering genetic testing and we want the information that
comes from it to be available to the next person as soon as possible! Utah Kids
is the first to know that our next round of whole exome testing will be
available in the fall. If this is the next step for your child, and your doctor
agrees it is but insurance will not cover the test, there will be an
application for assistance. Follow our social media outlets and our website for
the opportunity to apply!
To offer additional assistance to our undiagnosed and rare
Angels, we are holding a really awesome fundraiser the beginning of October! We
would love everyone to enter our 1st Annual Art for Angels art
contest - it is going to be a lot of fun and more details can be found on our
Eventbrite page. It is open to all ages with cool judges, prizes and artist
event! Funds raised will benefit undiagnosed children. Your artwork can help
these Angels!
Thank you Utah Kids for the spotlight and allowing us to
share!! We love you!
Website: http://awareofangels.org/
Contact: childgenetics@gmail.com
Facebook: https://www.facebook.com/awareofangels
Instagram: https://instagram.com/awareofangels/
Twitter: https://twitter.com/childgenetics
Art Contest: http://www.eventbrite.com/e/art-for-angels-art-contest-silent-auction-tickets-16556211073
