Cognitive Age: 3
Therapies: Speech, OT, PT, language therapy
Schooling: Early Childhood Education
Siblings: Marylou (6)
Parents: Dan & Maria Lindsay
Kabuki Symptoms: Annie has hypotonia, 2 Ventricular Septal Defects (VSD), submucosal cleft palate and a minor laryngeal cleft. She also has sensory-processing issues
Annie's Story: After a woman has her first baby, she typically knows what to expect with the next one. She also tends to know when something is “off” or just doesn’t quite feel right, so when Maria was pregnant with Annie, she knew before the doctors did that something was up. Annie didn’t move often and Maria was measuring large (unlike her first pregnancy). It turns out that Annie couldn’t swallow, so Maria was retaining an excessive amount of water, which is why she measured large. Annie also had a significant heart murmur in utero.
Still, they made it to term. When Annie was being cleaned off right after birth, the nurse noticed she was floppy. Annie’s blood sugar was low, too, so they attempted to feed her. That’s when she choked and turned blue. Annie was then taken to the NICU, where she would spend the next three weeks. Doctors ran tests and decided she needed to see a geneticist. Maria recalls that those weeks were a blur:
“I hardly remember the weeks Annie was in the NICU. It was such a blur. One thing that stands out more clearly than everything else is my determination with breast feeding. Annie couldn’t eat by mouth yet but I remember pumping every single hour for weeks so that she could at least have breast milk. I remember coming home from the hospital and not knowing what to do. A nurse came to weigh her daily for a while, she wasn’t sleeping much, and we had doctor’s appointments every week for months.”
Annie also started OT and PT almost immediately. She was discharged from the hospital with an NG-tube due to feeding difficulties but would be back just two weeks later. Maria took Annie to the hospital every week for 12 weeks for feeding therapy and coaching. But then things seemed to stabilize, the Lindsay’s had gotten into a good routine that worked for them, and when Annie was 4.5 months old, Maria returned to work. She says, “I don’t’ know how I survived that, but I did it and it made me stronger.”
Shortly before Annie’s first birthday, she spent 5 days in the hospital after she became very ill with multiple viruses and an infection. This came after having ear tubes placed and her laryngeal cleft repaired. She recovered well, though and things have remained steady. Annie has multiple check-up appointments every year, but most of the time her doctors see progress.
At age 4, Annie will undergo testing to determine kindergarten placement and services needed, if she will have an IEP or any other form of learning assistance. She continues to have OT, PT, Speech plus language therapy, instruction in early childhood special education and has educational assistance in social skills and task focus. Annie is always making progress in each area and works hard daily to grow!
After a bit of a rough start, the Lindsay’s seem to have things in control. They have a fabulous support system made up of grandparents, as well as Annie’s school and therapists. Annie has changed the dynamic of their family, and while it is sometimes stressful, the good definitely outweighs the bad and no one would change a thing!
Annie’s Favorites: “Annie loves looking at books, playing games, and pretend. She loves Disney movies and characters.”
Annie’s Relationship With Her Sister: “Marylou and Annie are best friends. Annie has learned so much from her big sister, and vice versa. They love to play “babies” and “dress-up” together.”
Advice for Kabuki families: “Stay strong. Try and celebrate the little accomplishments. Try not to sweat the small stuff. Most importantly, when you finally reach the moment where you accept everything, you will find happiness and joy in the journey.”
Advice for parents of “typical” children: “I want them to know how hard it is for Annie to make friends. The more peers that accept and invite Annie, the happier she will be.”
How Annie has impacted the family: “Annie is pure joy. She has taught us what life is really about. She has made me a better mother and teacher.
Annie is certainly a joy to be around and she has been a joy to write about. Her bond with her sister is evident in the photos, and it is abundantly clear that Annie is very loved by not just her family, but her school and therapists. She continues to make progress and be her best self every day, and with the help of her fabulous support system, she will make waves in the world as she grows.