Age: 3 - Violet will be 4 this month!
Cognitive Age: 4
Therapies: Occupational, physical, speech and play therapies
Schooling: Violet attends a wonderful developmental preschool. Classes have peer models and children with disabilities together. Due to her diagnoses Violet has an IEP in place.
Siblings: brother Shay (10)
Parents: Boris and Kassandra Babulkov
Kabuki Symptoms: Autism, epilepsy, hypotonia, GERD, laryngeal cleft, sleep apnea, laryngitis, dysphagia, foregut duplication cyst, fetal finger and toe pads, sacral dimple, apraxia of speech, global developmental delay
Violet's Story: “Violet was born healthy and beautiful!” Her mom Kassandra didn’t experience any complications or challenges during her pregnancy and Violet was delivered via C section. There were no indications or signs that their family’s new addition had any underlying medical conditions, and there was no cause for concern. Violet was discharged the day after her birth.
At four weeks old Kassandra noticed Violet had some abnormal eye movement. She took Violet to be seen by her pediatrician and was told she looked fine. However, two weeks later, on New Year’s Day, Violet had her first real seizure which lasted over 20 minutes. Kassandra, Boris and older brother Shay rushed Violet to the hospital, and before the car even stopped moving Kassandra had Violet in her arms and was running into the emergency department screaming for help. Kassandra recalls that it was by far the most traumatic event in not only her life, but her entire family’s life. “At that moment, my heart and head exploded…I was trying to keep it together for my son because he was in the car, but it was like a bomb went off inside of me.”
When Violet was six weeks of age she was diagnosed with epilepsy. It soon became obvious that she was not hitting the typical developmental milestones for a child her age. Violet didn’t roll over until after she was nine months old, began crawling at one year old, and walked at two years old. Violet also started talking at a very delayed age, and when she did speak, her speech was extremely hard to understand.
Violet’s amazing neurologist took one look at her and said there had to be a genetic component and ordered a WES test (Whole Exome Sequencing). WES testing evaluates patients with suspected genetic disorders for mutations within the coding of approximately 23,000 genes. Kassandra says, “I think if we hadn’t switched neurologists, we might not have found out so early about her having Kabuki syndrome. I can’t stress enough how important getting second opinions are. If you know something isn’t right keep being that squeaky wheel.” Right before her 2nd birthday Violet was diagnosed with Kabuki syndrome (KMT2D) as well as autism.
Kassandra says, “I have an amazing husband that supports me staying home with our children”. Kassandra’s mom and sister both live locally, with her mom playing a big role in their lives. Having the support of “amazing friends and neighbors” has meant the world to Violet’s parents and big brother!
Violet’s Favorites: Violet loves her family, friends, and pets. She loves playing on her scooter, playdough, baby shark and painting.
Violet’s Relationship With Her Siblings: Shay, Violet’s big brother, is her protector. “They bicker and have a typical sibling relationship, but Shay understands her better than anyone else.” They love each other unconditionally and it is apparent to anyone who has seen them together, whether it be in real life or through social media!
Advice for Kabuki families: “Enjoy those babies! It’s so easy to overthink all the late developmental milestones. Just know your child will surprise you and make you more proud than you ever thought possible.”
Advice for parents of “typical” children: “The shortcomings that you might see are nothing in comparison to the love that we feel for our kids. Don’t ever apologize when we decide to talk about our kid’s challenges. Take a moment to understand and acknowledge how lucky we are to have these amazing children.”
How Violet has impacted the family: “Honestly my kids are my everything and I always wanted to be a mom. My husband and I have two beautiful kids. Having a child like Violet has revealed this beautiful secret world that I never knew existed. She has shown us how to love, advocate, and be stronger than we ever knew was possible.”
Violet’s conditions held the key to a new world, providing tough days as well as beautiful moments for the fun-loving family along their journey. Their optimistic outlook, humor and playfulness has been a staple in getting through the rougher times, and helping Violet thrive at her own pace!