Emerie was born a healthy blue-eyed baby girl in August of 2006. She is #7 in the Mitchell-Butler clan. She just recently turned 5 and has started KG in public school. She has 4 siblings: Ariel, her half-sister through dad, now 17; Erie, her half-brother through mom, now 15; Elie, her sister, now 8; and Adrie her sister, now 6. Unlike most of us, before Emerie’s 1st birthday, she had a pediatrician, an optometrist, an ophthalmologist, a neurologist, and a geneticist. She was tested for more diseases and disorders than most adults in a lifetime…. All before having her sea legs at age 2. As a little baby, Emerie was like all babies…she was interested in shiny toys and things that made noise or lit up. She had big beautiful blue eyes and eyelashes to die for...everyone always commented on her lovely long eyelashes. Her eyes were a little loose…it was like they bounced when they would move. Having had 4 previous kids we were not alarmed when the pediatrician explained (like the previous 4 babies) that eye muscles can often take a bit of time to strengthen and that her eyes would likely “tighten up” in time. During that time, we noticed that baby Emerie didn’t seem to look at peoples faces when they held her and talked to her like we all talk to babies. Her eyes continued to bounce and to often roll. Little Emerie was referred to specialist after specialist and was diagnosed with nystagmus. After this diagnosis, she was tested for many many neurological disorders and many really frightening syndromes that were life threatening and severely debilitating. It was a very frightening time but we wanted to know if Emerie had a condition causing the nystagmus (the vibrating rolling eyes) that could possibly be treated. We wanted to know what that condition was so we could find her whatever treatment was available as soon as possible. However, she was put in little glasses and we were told by every doctor and specialist we encountered that Eme’s results were “normal” short of her really poor vision and her nystagmus. Good news...kinda. We were advised that her vision couldn’t be determined precisely because she was a baby, and that we’d have to wait and see how it turned out. We were also advised to note her development closely and report any other suspect symptoms to her physicians. In other words, we had her in glasses to improve her poor vision but we weren’t out of the woods yet… she could have some crazy syndrome we just haven’t identified in the tests that have been ran.
Little Emerie wore her glasses like a pro from the start. We never had to fight with her to put them on or keep them on. They were crazy cute! But, she ran into playground equipment like it was invisible. She couldn’t see a hanging party piñata. She couldn’t see candy on a rack in a gas station (but she could smell it). Even with her cute little purple glasses, her eyes continued to dance in her head and we continued to wonder why she couldn’t see. We worried that she may have one of those life-threatening diseases that just hadn’t been diagnosed yet. There were lots of things she could not see… but, there were some things that she could see. She could not see Niagara Falls and their beautiful rainbows…but she could hear them! She could see things we wouldn’t think she could see like painted squares and circles at the playground…and she could count all 50 of them. She could see Yellow Dandelions in a field of grass….but she could never see her brother playing baseball…so we did other things. J
In January of 2010 when Eme was 3 years old we were referred to the National Institutes of Health (NIH) by her 3rd ophthalmologist. We were seeing him for a 3rd opinion on her vision and why it was so severely lacking when her 4 siblings have perfect vision. He suspected that she had a disease that affected the retina, but he did not have the tools or the expertise to determine his suspicion as a diagnosis. It was a very exciting moment when she was accepted as a patient at the National Eye Center and her appointment was scheduled. Emerie started very early in the morning and underwent a full day of vision testing that I doubt I could have sustained as an adult. Her attitude was top notch the entire time. It was a tough 2 days, but Emerie was a real trooper. We drove home with a new perspective.
We learned that Emerie likely suffered from Retina Pigmentosa – a family of diseases that affect the retina at the cellular level. The rods & cones, known as photoceptor cells were likely damaged and/or dieing. We had a much better idea of how she might see things. We got a crash course on the cells of the retina and we learned alot about gene therapy and the cutting edge clinical trials that were going on right now in Philadelphia, a short 4 hour drive from us. Adults AND kids were regaining their perception and sight after gene therapy treatment. The trials were being conducted for Lebers Congenital Amaurosis, known as LCA. LCA is rare; it is thought to affect 1 in 80000. Eme’s NEW NIH medical team suspected heavily that she indeed had LCA.
Our blood and Eme’s was on the way to Denver to be analyzed specifically for LCA before we left NIH in Bethesda, MD. We had approximately 3-6 months to wait on results. 3-6 months to hope Eme DID have a single genetic mutation. HOW CRAZY DOES THAT SOUND?!? If she did have LCA, we wanted her to have the type of LCA that was associated with the gene identified and being treated at that very moment in Philadelphia. We were hopeful. LCA has a grim prognosis for it’s young little ones…they will likey lose the vision that they have as the cells in the retina die.
In less than 1 month our results were in- WINNER WINNER CHICKEN DINNER!!! She won, she was confirmed to have LCA…but she had the wrong gene. She had 2 mutations of the CRB1 gene. Mom had 1 mutation of the CRB1 gene, dad had 1. Though the mutation occurred at different points on mom and dad’s CRB1 genes, 1+1=2 and Emerie was diagnosed/confirmed to have LCA by genetic testing.
This notation became part of my signature for online groups and email exchanges. At the beach the week after receiving the LCA genetic diagnosis, I recognized that Emerie’s number was up. She was my forth child. Mom nor dad was symptomatic at all for retinal issues, nor were mom or dad’s previously born children. Genetically speaking, her chances of being born with LCA were 1 in 4 and she was baby #4.
Today, we sit here knowing that research is ongoing for genetic treatments for the type of LCA that Emerie has that is caused by the CRB1 gene. Research moves very slow, and is very expensive to conduct. Not all projects are guaranteed funding. As parents of these wonderful children, we want to expedite that research and make it possible for it to move into human clinical trials. To do that, we need money, which is why we have banded together to fight for their sight…to give our babies the opportunity to see us, their parents, for the first time. To give them the opportunity to see the same moon and stars that you and I see every day as sighted individuals. We genuinely feel like the moon and stars are within our reach and that if we work hard enough and partner with our fellow CRB1 researchers, we can indeed give our blind children the moon and the stars in their lifetime. Please join us as we fight for their sight.
You can contact the Mitchell-Butler family via email at Tabatha.Mitchell@crb1.org
or by phone 571.766.8344
You can also connect with their fundraising campaign for CRB1 called Eme's Army at www.facebook.com/EmesArmy