Cognitive Age: 7
Education: Hailey is in a self-contained class for her academic subjects and is in mainstream classes for her electives. Hailey will also have more testing at the Kennedy Kreiger Institute in the fall, to help the school understand her cognitive level and learning needs better.
Therapies: Physical, Occupational and Speech Therapies
Clinical Specialists: Currently Halley continues to have annual follow-up appointments with her Cardiologist, Audiologist and Immunologist and frequent appointments with her Orthopedist, Ophthalmologist, and Endocrinologist. She sees her pediatrician, speech pathologist and occupational therapist on a regular basis.
Siblings: Jeremiah (11), Jasmine (7), Hana (1)
Parents: Tirza Mercado & Rolando Mejia
Kabuki Features: She currently is diagnosed with a Learning Disability, Developmental Delay, Speech Delay, Language Impairment, Short Stature, Bilateral Hearing Loss, Flat Feet, Keratosis Pilaris, Low Muscle Tone, General Anxiety and Separation Anxiety. Her doctors are also following her growth for possible Scoliosis because her spine is showing some curvature.
Initially, there were no complications during Tirza’s pregnancy until they identified Hailey’s heart issues and kidney blockage, in utero. After that, she was followed closely for the remainder of her gestation. Tirza recalls, “They were prepared for the worst as they already knew she had heart issues.” When the time came for delivery and Tirza was 7cm, she developed a fever. The doctors identified Hailey was in distress, and performed an emergency C-section delivery. Hailey was born at 6:45 AM. Meconium was present. By noon she was transferred to Miami Children’s Hospital, where she was reunited with her mother 3 days later.
Hailey had open heart surgery at one week old for coarctation of the aorta and ventricular septal defect s/p repair. Tirza remembers, “I was right by her side, day and night, while recovering from an emergency C-section.” It took Hailey another week to fully recover and finally be discharged to go home.”
On May 5th 2010, at 3 months old, Hailey had surgery for her right kidney (ureteral) stent blockage removal. Her mother recalls, “When they brought her out of the surgery room, it felt like time slowed down. She was laying in the hospital bed and we made eye contact. I could tell she was sad and in pain, as she tried to reach for me while crying. While in the recovery room, the doctor told me he did everything they could but now it was a waiting game to see if her kidney would ever work properly since it was brown (already failing) when they did the surgery. I questioned myself, if I was a bad mother, for waiting this long for her to have surgery…but the doctors had advised me to wait a few months due to her having a major heart surgery at such a young age. We were in and out of the hospital clinics for cardiology and urology follow-up appointments. Thank God her right kidney survived, working 40/60 and she no longer needed to have her follow up appointments with them anymore.”
Initially, Hailey did not show any delays beyond starting to walk late, at 14 months; otherwise, all her other developmental milestones were met on time. Her developmental delays and physical challenges became apparent after her second birthday. Tirza sought answers, “I questioned the doctor about her weakness. He referred her to be evaluated only after I insisted many times.” The therapist who evaluated her stated Hailey didn’t show many delays in her physical strength and said she was only eligible for speech therapy.
The journey to find answers continued. In 2015, the family moved to Virginia. Between the ages of 6-11 Hailey had developed many other health concerns such as flat feet, one foot pointing outwards, severe low muscle tone, growth development, continuous eye and skin infections etc. She also had a learning disability. After seeing Hailey’s needs were not being met, Tirza changed Hailey’s primary doctor. The new pediatrician referred her to a child development specialist, who stated they couldn’t do much because the only tests they would conduct were for verbal children and Hailey at that time was not fully verbal. Finding the appropriate tests seemed to be a challenge in school, too. At the age of 7, the parent and school questionnaires indicated she had ADHD. But Tirza, knowing the whole range of her daughter’s challenges, wasn’t satisfied with that answer. She saw the big picture and knew there was something else that needed to explain Hailey’s challenges.
“It took every bit of fiber of my soul to continue fighting for her. Many doctors and therapists dismissed my concerns because Hailey didn’t have enough red flags to be properly diagnosed in different areas of her development. They didn’t want to believe my concerns. It has been an overall exhausting journey full of love, happiness, pain, and sadness. It took 11 years and 4 genetic tests to finally get Hailey properly diagnosed. In 2021 her orthopedist requested a congenital heart panel genetic testing. That’s when they discovered a mutation known for Kabuki syndrome. It was bittersweet but I was finally able to breathe while, at the same time, mourn my child’s normal life. No parent is prepared to learn that their child has special needs. After processing it and accepting her diagnosis, I was able to get back into my warrior mindset because my fight has only just begun.”
Support Network: Tirza says, "My mother, who was my main support system, passed in October 2016. Hailey was really close to my mother."
From where do you draw your strength? "It's been a difficult journey but not impossible. My strength comes from knowing my husband and I are the only ones that can give everything Hailey needs in life and also knowing we are the only ones that will fight for her in life."
Impact on your family: "I guess it (Kabuki Syndrome) has made me a Kabuki warrior, as well because day and night, I fight for her rights."
Advice for Kabuki families: “Don’t question yourself! You as the parent knows best when it comes to your own child. Do not give up on questioning the doctors and fighting the school system. Follow your gut feeling. Don’t forget to take care of yourself as well. You cannot pour from an empty glass.”
What do you want parents of neuro-typical children to know about raising a child with Kabuki Syndrome? “Kabuki Syndrome is not our children’s sole definition. There is more to them. They are unique human beings. Find their interest, you’ll be surprised to see what they can do when they put their love into it. My Kabuki kid has to work much harder to function just about anywhere, especially in school, as she tries to “mask’ herself just to fit in with her peers.”
Spotlight Writer: Stacy Limperis