Cognitive Age: 4
Therapies: Physical, Occupational and Speech Therapies - also receives social/emotional counseling at school
Schooling: Mainstream, special needs classroom with IEP
Parents: Andy and Lisa Marciniak
Kabuki Symptoms: Feeding and swallowing difficulty, ventricular septal defect (VSD, gradually closing on its own), tethered spinal cord, physical and developmental delays
AJ's Story: As with many children born with Kabuki Syndrome, AJ’s life began with a gradual reveal of medical complications and unanswered questions. When Lisa and Andy brought their 4-week-old son, AJ, to his one-month infant wellness appointment, he was diagnosed with failure to thrive. They were told to take him immediately to Hasbro Children’s Hospital. Lisa recalls, “We had no idea anything was wrong, so we were in shock during the drive.”. AJ was admitted and remained at the hospital for five days, where he was evaluated by a cardiologist. After an EKG and echocardiogram were performed, Lisa and Andy were told he had a cardiac issue, but it was not affecting his eating or ability to gain weight. The bloodwork was all normal and the geneticist did not think it was a metabolic issue. He was released from the hospital when he had gained enough weight.
Upon his return home, AJ was fed with regular formula but still was not making any significant gains. His pediatrician suspected lactose intolerance and recommended they start feeding him with a different formula. After three months, the feeding was still not going well. AJ was not gaining weight. The cardiologist recommended another pediatrician who suggested they feed AJ with another formula. In doing so, AJ he began to look so much better. He started to receive Early Intervention services including physical, speech and occupational therapies and eventually weekly support meetings with at home visits from a social worker. Things were finally looking up! AJ began to show significant progress, and became the happy boy that he is today.
When Early Intervention services ended at the age of three, he qualified for an Individual Education Plan (IEP) through the public school system. He began attending a half day, integrated pre-K program. He still receives services in the summer but this year is the first summer that he qualified for the Extended School Year (ESY) program where he can also receive classroom instruction. He also still receives private speech, occupational and physical therapies through Hasbro Children’s Hospital.
As AJ grew, he continued to have more medical complications. He had two tear duct surgeries, tubes in his ears, his adenoids removed, a sedated hearing test, three MRIs of his spine and one MRI of his brain (his soft spot closed at only three months old). He currently wears a hearing aid in his right ear because the hole after the tubes fell out did not close in his right ear. He has mild hearing loss when it comes to low frequency sounds. When Lisa looks back at these experiences she explains, “The first three or so years of not knowing what was happening and how to connect the dots was exhausting in so many ways.”
Like many other Kabuki families, AJs appointments with several specialists have taken a toll on the family. Finding employment that works around AJ’s multiple appointments has been challenging. Lisa explains, “I am a stay-at-home Mom and that has been tough with my husband being the sole provider for so long. I was able to start a ten hour a week job this past fall with flexibility and am also a rep for an online clothing company to help with some income. Having him older now and able to do much on his own is a huge help but goodness knows, having him potty trained would be great and maybe one day, less doctor appointments!”
AJ's Favorites: "He loves to talk, plan his day, go shopping at any store, rip magazines, watch tv, play Lego with Daddy, cook like Daddy and read stories. His favorite places to visit are the Mystic Aquarium, the zoo, going on carousel and train rides, playing on all kinds of playgrounds and after a long day of playing outside, eventually sleep!"
Advice for Kabuki families: "Don't let the Kabuki change who your child is. That was the best advice we got from our genetics counselor after we received the Kabuki diagnosis. He/She is still who they are and the Kabuki is a small part of who your child is."
Advice for parents of "typical" children: "We struggle as parents just as much as any parent. Just teach your child, as I teach mine, that we all have different abilities for which they should be embraced.” Teach your children to interact with, rather than ignore, make fun of, or look away from a child who is differently abled."
How AJ has impacted the family: "Even though it was scary and so stressful before we got his diagnosis (he was three and a half), he has been such a blessing and the Kabuki has just taught us how we can see the world differently; teach him, as well as ourselves, that we all have different abilities. And that is a positive thing."
Support System: "My husband and I have figured out how to be a great team to advocate for his needs as well as treat him as a typical developing child. He has a grandma who loves to babysit him and we have an amazing church family who accepts him as he is."
Written by Stacy Limperis