Malia Riggs
Elmore Autauga News
A Prattville woman has her second annual tree on the Prattville Tree Trail, showcasing the faces of 22q deletion syndrome. It is something Shelby Kotila was born with and diagnosed at only two and a half years old.
“I have a syndrome also known as DiGeorge syndrome (22q) and I am currently a quilter. I actually make quilts for other kids and adults who have the same syndrome as me, and I mail them all over the U.S,” Shelby said.
Shelby is working toward sending her quilts internationally and raises awareness for the condition here locally and nationwide, by having herself and her family be vocal about her story, making quilts and building awareness in the community any way possible. This year the theme of the tree is the smiling faces of 22q.
The faces range from Autauga and surrounding counties, Alabama, the U.S. and international.
“She’s so tough. She’s way tougher than me, I think. Someone from the outside looking in would say ‘well you played contact sports,’ but she’s got me beat by miles,” Shelby’s older brother Nolan Kotila said.
22q 11.2 Deletion Syndrome goes by numerous names, such as DiGeorge syndrome, VCFS, Velo Cardio Facial Syndrome, but is most known as 22q. This is a deletion of the 22nd chromosome on the q arm and has a defect causing a multitude of unique symptoms because of the defect. Depending on the deletion, one can be missing around 50 genes.
“I was two and a half years old when I was first diagnosed with 22q, it’s the most common syndrome you have never heard of. That’s because it’s the second most common syndrome. So yeah, there’s many names for it,” Shelby said.
Children with 22q can have various developmental delays, learning disabilities, social difficulties and or the possibility of a slew of different health issues. However, each case is specifically unique to that person, where none, only a few, or all of the typical similarities can be present.
“From the beginning, once you’re diagnosed, you are checked head to toe. We were in the car when I got the phone call. I think I was just kind of like, okay… we have an answer, we’re going to go from here,” Shelby’s mom, Stacy Kotila said.
Shelby was born with a cleft palate, which affected her speech early on. This only added to the multiple medical anomalies that led to her diagnosis at such a young age. She also had several surgeries during her childhood, but regardless of what was happening medically, it never stopped Shelby from living life to the fullest.
“Now I’m not going to lie, I’ve googled a lot of medical terms. I know they say Google is not your friend but sometimes Google is your friend. I learned if I Google something to take it lightly, I mean you know, it’s not always a bad thing,” Stacy said.
Through it all, Shelby stated she wasn’t scared, and was very happy to have the support of her family and friends that share the same syndrome.
“She’s a fighter. Seeing her hooked up to all these machines, I couldn’t do it. I don’t know where she finds that strength, but she’s always had it. For me, it’s like any big brother wanting to support and make sure their little sister is alright. So as the big brother I’m keeping as close of an eye as I can. Growing up I just felt normal, I didn’t feel anything other than the supportive big brother, I was always just there,” Nolan said.
Kotila raises her own money to support the decorations for the tree on the trail where she makes pillowcases, potholders, bookmarks, bags and other items which she sells via Facebook to raise money to raise awareness.
Shelby and her mom also attend an annual conference in Columbus, Ohio for 22q deletion syndrome where Shelby can visit her friends from around the U.S. and deliver a quilt or two from her most recent projects.
During these conferences there’s various speakers for children and parents, doctors and specialists are also in attendance, different team groups with activities that are geared towards helping children and adults with 22q manage their syndrome in a healthy way.
Generally, what the 22q conference and the international 22q conference aims to do is raise awareness, share the most updated studies and information possible and bring people together as it is a syndrome that not many people know about.
“It was really the first time from my perspective that I actually had hope. That was my turnaround, that was my ‘okay this isn’t doom and gloom’ because the doctors really don’t paint a pretty picture for you. Going to the international 22q conference was the first time that I started seeing some of these older kids succeeding, doing things, living their lives. I’m thinking, ‘Okay this is going to be okay,” Stacy said.
On the tree trail, the faces of 22q are smiles from all around the world, even as far as down under, in Australia. Each ornament features their name, a photo, what their superpower is and their 22q effect. Shelby stated her superpower is making quilts and sewing, and her effect from 22q that is featured is patella instability, which is very common in individuals with 22q.
Among sewing Shelby has always loved being an artist from a young age.
“My favorite subject in school was art. I still like to draw. I like to do watercolor and I also like to do soft pastel. I also do my calligraphy lettering,” Shelby said.
Shelby said that it’s her passion and dream to become an interior designer. After working putting colors together for quilting she’s developed a knack and passion for decorating. She’s even decorated several rooms in her home by herself, with a modern feel.
As for people with the syndrome, Stacy said, “They’re loving, they’re honest, they’re just like you and I when it comes to being a friend. We share our story because there’s another family out there who thought they were alone and now they’re not alone.”
Stacy stated that the www.22qfamilyfoundation.org has wonderful resources and there’s multiple Facebook groups that have helped her not feel alone while staying connected. These include the 22q family foundation Facebook group and the international 22q Facebook group, among others. Stacy says these were great resources to meet other moms and for Shelby to meet individuals who also have 22q.
In order to not feel alone locally, or nationally Stacy has offered for anyone with further questions, concerns or wants to be more connected about 22q to reach out to her via email at centralalabama22q@gmail.com
