22q awareness month By: Maria Smietana Photos by: Leah Parks-Nightingale + Willow Photography
Meet the Bruinsma Family
Troy, Rosalyn, Tucker, and Grace Long-time Carmel residents Troy and Rosalyn Bruinsma had never heard of 22q11.2 deletion syndrome (22q) until their daughter Grace was born. “Finding information and people who were familiar with it [22q] was a struggle, said Rosalyn, a Pittsburgh native who grew up in Indiana. “It has been a scary path to navigate. Our daughter’s health and emotional challenges made us educate ourselves with as much information as we could find and seek out every avenue to help her live the best life possible.” 22q deletion syndrome is a disorder in which a small piece of genetic material is missing from chromosome 22. According to the 22q Family Foundation (https/22qfamilyfoundation.org.), this deletion can affect nearly any system of the body and can be the cause behind nearly 200 health and developmental issues.
Troy Rosalyn Tucker 20 Grace 11
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Grace was born with several of the most common features of 22q. Her heart abnormality required two open-heart surgeries before she was 4 years old. “During the first surgery, she had complications and spent an extended time in the ICU,” Rosalyn recalled. “It was very scary and put many things about our lives in perspective.” Her submucosal cleft palate also required surgery, and her immune system, said Troy, is challenged to fight even the mildest of infections.
Tucker 20 and Grace 11
Rosalyn and Troy
Troy Rosalyn Tucker 20 Grace 11
Because each child born with the syndrome can have any number or combination of these issues, 22q can be very difficult to diagnose. But as research on 22q has progressed, those that occur most commonly have been identified, and include heart abnormalities present at birth, immune system malfunction, distinctive facial feature differences, submucosal cleft palate, kidney abnormalities, low levels of blood calcium, decreased blood platelets, and hearing loss. Common developmental problems include delayed growth and speech and mild intellectual or learning disabilities. Children with 22q are also more likely to have ADHD and autism spectrum disorder than other children https/medlineplus.gov/genetics/condition/22q112-deletion-syndrome.
“As scary as the health challenges are, the social and emotional issues are sometimes harder to deal with,” Rosalyn said. “The hardest thing is to hear an evaluation and see the list of challenges that Grace faces. We had [to learn to accept] that if we don’t acknowledge those, we can’t help her. We have wonderful support teams that also want nothing but the best for Grace and when we work together, we are far more successful. We learned to celebrate the little things and never underestimate what she is capable of. I always tell people that she has taught us persistence, patience and to appreciate the simple joys.” Now 11, Grace attends Clay Middle School in Carmel. She receives speech and occupation therapy at Mini Minds, along with other support services at school. She takes dance and piano lessons and loves to draw.
Tucker and Grace
30 Special Needs Living • November 2021
