Hi we are the Fowler family! Our family consists of dad Jared, myself mom Ashley, Jaley and her brother Zak who lives out of state with his mom. We also have four rescued furbabies-Roscoe, Izzy, Hank, and Waylon. Jaley’s dad and I both had dreams we had a little girl early in our relationship. In fact, we had her name picked out years before she was born. Her name is a combination of Jared and Ashley with her middle name that of her grandmother’s and one of her Aunt’s. In May 2017 my younger brother(Jaley’s uncle) passed away unexpectedly. A month or so later we found out I was pregnant. That definitely gave us something to look forward to and helped us all cope especially her grandfather. My brother’s son and I share a birthday. Jaley’s due date was my brother’s birthday. She was born 2 days after on March 9th, 2018. The pregnancy was normal with no indication anything was off. In my gut, though I had the feeling something was different.
Delivery was normal with the exception of her being born “floppy”. She didn’t cry and a team rushed in to help her. Within a few minutes, she was fine. On our last day there she failed her hearing test. At that point, we weren’t overly concerned. But then she failed it again a week later. After that, we saw multiple Audiologists at Harbin and then at the Children’s hospital. But they thought at that time her ear canals were just so incredibly tiny that might be why. We saw an ENT who referred us to have an ABR done. An ABR is an auditory brain response test which R) test tells us how the inner ear, called the cochlea, and the brain pathways for hearing are working. You have electrodes put on your head to get ready for the ABR. The electrodes are stuck to your skin and connected to a computer. They record brain wave activity in response to sounds you hear through earphones. We were absolutely devastated when the Surgeon and Audiologist told us she had moderate to severe bilateral sensorineural hearing loss. Right around that same time our amazing Pediatrician had bloodwork done which came back showing Jaley had elevated liver enzymes. We had no idea why and were urged to see a Geneticist. It took a while to see one but we got to Emory in May 2019. Dr. Sanchez told us she thought Jaley had a metabolic disorder. Bloodwork was done and we got a call a month later to come in. It was then she told us Jaley has Zellweger syndrome. She gave us a printout, told us not to Google it and to take her home and enjoy her. Of course, the first thing we did was google it. It took a long time to process. And in some ways we still are.
Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD). The diseases are caused by defects in any one of 13 genes, termed PEX genes, required for the normal formation and function of peroxisomes. Peroxisomes are cell structures that break down toxic substances and synthesize lipids (fatty acids. oils, and waxes) that are necessary for cell function. Peroxisomes are required for normal brain development and function and the formation of myelin, the whitish substance that coats nerve fibers. It affects 1 in 50,000 and the prognosis is poor. Most infants do not survive past the first 6 months and usually succumb to respiratory distress, gastrointestinal bleeding, or liver failure. There is no cure or treatment. You manage the symptoms. I remember not thinking she’d make it to her 2nd birthday and not wanting to buy clothes too big because I wasn’t sure she’d get to wear them.
Jaley has fought hard and we are so blessed we have a silly, sassy, strong, and brave three-year-old. Since her diagnosis, we have seen a ton of specialists and Jaley has labs done often to monitor her liver enzymes levels. She has a wonderful team of doctors with CHOA and also her new eye doctor at Children’s eye care and surgery center. She also is in therapy which includes Physical, occupational, and speech. She was in the Babies Can’t-Wait program that helped with these costs but aged out at three. We are very fortunate she is able to have private therapy through Infinity and with her PT Ami because we were approved for the Katie Beckett Medicaid waiver but also through school now.
2019 was a really hard year full of appointments. Every appointment seemed to lead to 5 more. And during this time her dad and I both were working full-time. I actually had two jobs one of which I could do from home. Jaley really struggled especially to gain weight while at daycare. In the spring of 2020, I was let go of both my full-time and part-time job, both of which I had been at for almost a decade. I was absolutely heartbroken but it truly was a blessing in disguise. Once I started staying home with her she stated to thrive. She put on weight and was finally able to hold her sippy cup and drink by herself. Such a small thing to parents of typical kids but to us a huge victory. She has continued to beat the odds and progress even if it’s just a little at a time. Jaley wears hearing aids, glasses and has leg braces. She is nonverbal and at this time not walking but we hold onto the hope that she will one day.
2021 has been a big year for us. In February she sat up by herself in her bed. That was huge for her!!! She started pre k and I was able to find a job working part-time. Although it’s financially hard on us it allows me to get her to therapy, school and be there with her as much as possible. Her dad and I also got married on October 1st, 2021 with Jaley rolling down the church aisle in her motorized car. She definitely stole the show.
Although Jaley is really tough little girl, even something small like a cold can be hard on her. The night before Mother’s day this year we rushed her to Scottish rite where she was diagnosed with parainfluenza II. She was there a week and it was honestly the scariest week of our lives. We are so incredibly thankful for the nurses there and for the Pediatrician on call that week Dr. Morris. Jaley would not eat there. We tried everything so eventually an ng tube was placed to get her nutrients. An ng tube is a special tube that carries food and medicine to the stomach through the nose. We explained to Dr. Morris that Jaley really didn’t eat well outside of our home. But Jared and I struggled on what to do as far as keeping her there or trying to take her home once she was better to see if she’d eat. A week to the day we brought her in I called our Pastor to explain our dilemma. We talked, we prayed and it was decided we would try to bring her home. Dr. Morris agreed and we packed up and headed back to Rome. Within a few minutes of being there, she was eating.
Jaley has taught us to not take anything for granted. Everyone who meets her falls in love with her. When I was laid off we went to our local park every day where she gained many friends. They all lit up seeing her and were disappointed when we could no longer go as much. Her smile and laugh will make you melt. She really is the strongest little girl whose fighting spirit has helped her get this far. She loves her brother, Annie’s cheddar bunnies, butter biscuits, to swing and ride around in her motorized car one of her uncles gave her for Christmas. This is definitely not the journey we imagined but it’s ours and we are extremely grateful for our support system. Our family, friends, doctors, therapists and church have helped us navigate it and have been there every step of the way. We also connected with the GFPD which is for families like ours and provides so many resources like support groups, and equipment exchange programs and help fund research for this horrible disease. So many people have come into our lives and helped us in a lot of ways. I really don’t know what we would do without them. I’m not big on social media but started an Instagram account in 2016. It has been incredible the friends we have connected with there. We have also been able to connect with families on Instagram and through the GFPD with children who also have Zellweger syndrome. It’s so important to have other people who get it. And now we feel incredibly blessed to be a part of this new family with the Specially Gifted Foundation. There are things Jaley needs that insurance will not help with. I think there is a misunderstanding that if a Doctor or therapist says a child needs a certain medication or equipment insurance will help cover it. That is not the case at all. Our experience as well as other families with nontypical children have had to fight really hard for these things. And then if we are lucky enough to get them it takes a long time. Or they are extremely expensive. We waited months and months for her adaptive stroller we received this past spring. So to have an organization like the SGF that understands that and helps families like ours is absolutely amazing. Words really can’t adequately describe how blessed we feel to be a part of it.
Gift: Multistander1 Supine/ Prone/Upright Standing System + Bath Chair + Bathroom Renovation
Location: Floyd County
Given: December 2021