Rep. Miller Backs House Resolution to Increase Public Awareness of Rare Diseases
Posted on February 20, 2015 by admin
Thank you U.S. Representative Candice Miller for your support in cosponsoring a House resolution designating February 28th as National Rare Disease Day!!
“Through initiatives like the WAGR Warrior Foundation, these advocated are helping to increase the level of public awareness needed to improve diagnoses and treatments.” …
“Increasing public awareness of rare diseases and advocating for those who cannot advocate for themselves will help us improve treatments and the support networks that families coping with rare diseases rely on every day.”
Beautifully said, Ms. Miller. Thank you.
Emma’s Story (a mother’s perspective)
Posted on January 29, 2015 by admin
Emma was born in March of 2013 and we had a very happy month adjusting to life with our new baby (aside from the sleepless nights, diaper rash and a pretty bad case of colic…) In April of 2013, we took her in for her 1 month well child appointment and experienced an unexpected shift in how we had pictured our family’s future. It began with our pediatrician suggesting we pop in to the ophthalmologist’s office later that day because “Emma’s pupils were not reacting to light as she would have expected. It’s probably nothing, but better safe than sorry.”
Which now brings us to the beginning of our journey with WAGR syndrome. This appointment felt like we were being blindsided with a cruel joke – every sentence out of the doctor’s mouth seemed to get worse and worse AND she just kept going and going…and going. At one point, I think my brain forced itself to shut down because I could not take any more. “…she doesn’t have
irises, probably won’t ever be able to drive a car, she will be visually impaired (but, don’t worry, she’ll probably be able to “navigate a room”), possible glaucoma, possible cataracts, possible WAGR syndrome, possible kidney cancer, possible kidney disease, possible ovarian cancer, possible “developmental delays”….”
I remember sitting in the office waiting to be called back again and looking up at Adam in a fog saying “what does this mean?” I have always been the designated worrier of the family and he has always been the one obligated to roll his eyes and tell me I’m being ridiculous. I knew something was really going wrong when he didn’t automatically tell me everything was going to be fine.
Anyways, this day and about the next 2 or 3 months that followed were the lowest points of my life. It was a nightmare I would have given just about anything to wake up from. After the biggest chunk of the grieving period passed, we came to realize that Emma will be whatever Emma will be and we will love her unconditionally no matter what happens.
Unfortunately, in January of 2014, we found out that Emma had a tumor that had begun to grow in one of her kidneys. 2014 marked the year of our battle with cancer and we are very pleased that Emma entered 2015 cancer free. Because of her genetic deletion, she will always be prone to developing cancer again, so she will be closely monitored for at least the next 10 to 15 years. 2014 was very hard on Emma and our family, but it also gave us the privilege to experience firsthand such an outpouring of kindness and generosity…making us believe again in the goodness of people.
Emma will have a lot of struggles and battles in her life as she gets older, my hope is that the funds and awareness raised through WAGR Warriors will help her (whether that be through the development of new research or a more understanding friend) in some small (or, dare I hope?, large) way in the future.
Thank you for your support!!
Jenny