NAME: Eden Rose
CURRENT AGE: 21 months old
HOME TOWN & STATE: Lynchburg, Virginia
DIAGNOSIS DATE: June 2019
PARENTS: Brittani and Brian
SIBLINGS: Lincoln and baby brother (due late 2019)
What it felt like when we learned our child has SLC6A1? When we first found out that Eden was SLC6A1 positive, it was surreal. We had been seeking an answer since 6 months of age, and every test had come back negative or not conclusive. We were beginning to hold on to the hope that, just maybe, this was a fluke. Hope that, shortly, she would be on her way to living a full and normal life. It turned out to be a false sense of ease when her last genetic testing presented positive results. Suddenly, this hope was stolen from us. What made it even more difficult was that her doctors, though kind, had no idea what these results meant. They told us, “maybe she will have seizures… maybe not.” This lack of information left us with incredible unease; we had no idea what to expect for Eden in the long term.
How did you know something was wrong? When Eden was only 4 months old, we started to notice she seemed “floppy”. When we picked her up, her shoulders would tighten to her ears, and holding her upright caused her head to bobble. We voiced concerns to friends and family with the understanding that every child develops at a different pace. Since she was still so little, we decided to give her time. By 6 months, no matter how others tried to reassure us, we knew something was wrong. She was incredibly unsteady. With what seemed like each passing day, her peers and younger babies were catching up and surpassing her in milestones and gross motor ability. When we took her in for her 6 month checkup, her doctor suggested we wait until her 9 month appointment to investigate further. That would be another third of her life! We switched pediatricians and luckily found a great doctor who advocated and pushed for appointments with specialists and provided referrals for therapy. This started us on our journey to find an answer to Eden’s delays and low muscle tone.
The hardest part of being an SLC6A1 family? The hardest part of being an SLC6A1 family is not knowing what’s to come and fearing the worst. So far, we have been fortunate that Eden has not experienced seizures (at least we hope we haven’t somehow mistaken a seizure for a clumsy moment). While it is slow going, she is making progress! Our hearts ache when we see other children her age who are running, squealing, and starting to speak. Anyone can see how much she wants to engage and play, but she cannot. It is heartbreaking. We fear that she will begin to have seizures, lose progress, and continue to be left behind. It is difficult to hope for the best and fear the worst at the same time… all of the time.
What are your dreams for Eden? Eden is the sweetest, happiest little girl and we are so grateful she is ours. Our dreams for Eden are that she remains just as happy as she is now. However, we ultimately desire a “normal” life for our little girl. We want her to grow and live and love to the fullest. We want her to continue to progress and accomplish a level of independence that gives her the freedom to live the life she wants for herself.
Why would you like people to donate to SLC6A1 Connect? We wish that Eden’s best chance for a full life were not contingent on donations, but that is the world we live in. Money drives research, progress, and the advancements in medicine that we need in order to give Eden and all affected children hope for the kind of life they deserve. Just like every parent, we love our daughter and want the best for her- this can only be fully realized through fundraising efforts. So please, if you can, donate. If you can’t, help us spread the word. Every little bit helps and we are so grateful for anything that can be given, whether it’s time or money.