Cognitive Age: 6-7 years
Therapies: Physical, Occupational and Speech Therapies, ABA therapy starting soon
Schooling: 6th grade, Life Skills
Siblings: Delilah, Brian, Brandy and Brandon (all adults), 1 biological sister (Lisa)
Parents: Byron and Marcella Todd
Kabuki Symptoms: Typical facial features including long palpebral fissures, broad nose, long eyelashes, microcephaly, wide set eyes/brows, blue sclera and prominent fetal pads on his hands and feet. Short stature (History of FTT), osteoporosis, femoral anteversion (inward twisting of thigh bone), patellar subluxation, partial dislocation of the kneecap, Coxa Valga (deformity of how femur fits into hip socket), hypotonia, sensory integration dysfunction, acid reflux, one kidney larger than the other, tachycardia, multiple ear infections hearing loss, autistic tendencies, intellectual disability, missing adult teeth, wide gait (wears AFOs), fatigues easily
Kevin's Story: The story of how Kevin came to the Todd family seems to have been written in the stars, where Kevin’s grandmother, Janet, watches over him. Byron and Marcella Todd had already raised their four children to adulthood. Marcella loved to crochet blankets for her grandchildren and all newborn babies that came into their large extended family. She was asked to make a baby blanket for a family member with whom she had infrequent contact. Marcella was happy to do so. When the hour of delivery came, Marcella was able to arrive at the hospital to gift the newborn with the lovingly made blanket. She even had a chance to hold this sweet baby boy, Kevin. Due to unforeseen circumstances, the Todd's were asked if they would be willing to raise the little boy that Marcella a held only three months earlier in the blanket she made. The only health concerns that had been identified for Kevin at that time was a low birth weight, acid reflux, feeding issues and failure to thrive. With an open heart, Byron and Marcella accepted to care for and raise little Kevin. His adoption became final, a week after his first birthday.
At that point the Todd's embarked upon a journey that slowly revealed many more medical complications and questions. He received First Steps (Early Intervention) services that included physical, occupational and speech therapy. He was extremely small for his age, in the tenth percentile on the growth chart. He had hypotonia, difficulty walking, multiple ear infections, tube placement surgeries and was delayed in his speech development. He had sensory integration dysfunction, feeding and digestive issues including acid reflux and rare skin conditions. His bone complications were not immediately recognized because of his high threshold for pain. Marcella and Byron began to see a string of injuries happen such as a broken finger happen while playing basketball. He had broken his wrist, sprained his feet, and had bruised bones during simple activities. Kevin has described his pain as deep down in his bones but wasn’t able to communicate when an injury occurred. The neurologist and orthopedist started testing to find the source of the musculoskeletal complications. At first, they believed he had a mild form of Spina bifida, then Tethered Spinal Cord Syndrome and later on considered the possibility of Cerebral Palsy. Finally at the age of eight, genetic testing was conducted at Riley Children’s Hospital in Indiana. The test revealed Kevin had Kabuki Syndrome, KMT2D of insignificant type.
The diagnosis provided an answer but had also raised more questions. The phrase “Insignificant Type” was puzzling. Kevin fit some of the traits and some of the medical issues but not all. The geneticists requested to test Kevin’s biological parents to gain more information. When the Todds explained this was not possible, the genetic team said the next follow-up appointment was in a year and gave them a pamphlet answering frequently asked questions about Kabuki Syndrome. This prompted Marcella and Byron to look online for more information. They found the All Things Kabuki website and connected with Rene King, who invited them to join the upcoming All Things Kabuki Conference in Ohio. They received a scholarship to attend the family gathering, where they were finally able to get information, make connections and find the support they needed to help Kevin.
Marcella recalls that this weekend was a pivotal experience for them. “We learned so much and met so many wonderful families”. Dr. Olaf Bodamer, of the Roya Kabuki Clinic at Boston Children’s Hospital, recommended they seek a second opinion about Kevin’s test results which described a variant of uncertain significance. They were able to connect with another Kabuki family from Indiana who told them about Dr. Luis Escobar, at Peyton Manning Children's Hospital in Indianapolis. Later in that year, Kevin’s diagnosis was confirmed clinically and genetically by Dr. Escobar. In addition, more tests revealed Kevin has tachycardia and osteoporosis. Marcella says, “It was amazing to find a doctor who took the time to talk to us and give us some reassurance.”
After a couple of rough starts in mainstream schools in earlier grades, Kevin is now in a sixth grade Life Skills curriculum placement. His parents are so pleased about the wonderful fit of the school and his awesome teacher, Dana. She has an understanding of Kevin’s needs and has helped point his parents in the right direction. Marcella said that they could not ask for anything better. He has one more year at that school and then will move on to another for 7th grade which gives him some time to prepare for the transition.
Like many other people with Kabuki Syndrome, Kevin has behaviors that are similar to those often seen in people with Autism Spectrum Disorder. He loves to clap, make a clicking sound, stomp, and bangs on things. He is afraid of sensations of the wind and the rain. He cannot tolerate loud noises from storms, sirens, babies crying, and anything loud, despite his hearing loss in one ear. Socializing is also difficult for him. If there is a large group or too many people near him, he tends to go off by himself. He is able to engage with other kids if there are only one or two with whom to interact, but overall, making friends is hard for him because he doesn’t understand things kid his age are doing or playing. He was tested for Autism Spectrum Disorder, when he was much younger but his parents were told that Kevin is too social with adults. Marcella says that anyone who is around him regularly, like his family, friends, teachers and classmates can see these behaviors and his social challenges. When asked if his family would consider getting tested again to see if he does have ASD, they say that they know and love who he is, and an official diagnosis isn’t going to change anything for them.
Kevin is aware that he is different from other kids his age. If you ask him about Kabuki Syndrome, he says it makes his legs hurt. Despite this understanding of how it has negatively affected his body, he feels a bond with his friends that also have this syndrome, referring to them as his “Kabuki brothers and sisters”. He keeps in touch with them over Kids Messenger.
The Todd's have an extensive family and support network that includes the Kabuki community whom they met through the All Things Kabuki foundation. They love how accepting their Kabuki family is and how they help them find the right questions to seek solutions. Marcella credits Rene King, Sabrina Flores and Michelle Richardson for their instrumental roles in guiding her and Byron through their journey. In gratitude for the scholarship they received to attend their first Kabuki conference, Marcella joined with Michelle Richardson to hold a couple of fundraisers that helped other families attend the next conference.
Kevin’s relationship with his siblings: "Kevin loves his brothers and sisters, as well as their children, his nine nieces and nephews. His 16-year-old niece calls him “Uncle Kevie”. He is also very excited to finally be able to visit with his grandparents, Papal and Nana, after a long year of COVID distancing."
Kevin's Favorites: "Kevin loves his cat, Daisy and his dog, Piper a. His favorite toys Marvel superhero action figures, his stuffed baby tiger Morgan, Horsey and his Feel Better Friend (hand crocheted doll that looks like Kevin) named Junior. Morgan the tiger goes on adventures with Kevin but Junior is more of a stay-at-home buddy. Like all kids, electronics are also on the list of favorites. Kevin has learned how to play games on his Wii U using a touchpad and watches YouTube videos. He also loves to explore nature while vacationing with his family in their camper. Sometimes he looks up at the stars in the night sky and says “Hi” to his beloved granny, who watches over him."
Advice for Kabuki families: "Listen to your gut, advocate, advocate and advocate using your ‘mommy voice’ when necessary. Spread awareness."
Advice for parents of "typical" children: "Raising a Kabuki child can be hectic at times and we praise the little things that some typically think are ‘normal’ or not a big deal. We have found that it is harder for adults to adapt to, or accept our son than it is for children. Some of the things we face on a daily basis are heart breaking as a parent. Questions abound knowing your child may need help their entire life, not knowing what will happen as they grow older. When you’re gone, who is going to help or protect them? What quality of life will they have? Will they ever know what ‘normal’ is? How they experience life, as they know it, is normal: they eat, sleep, feel and love just like anyone else. Kids with Kabuki Syndrome are exceptional all on their own. They may have similarities amongst themselves but they are each different in their own way."
How Kevin has impacted the family: "The experience of a parenting a child with Kabuki Syndrome, has taught us how to slow down and realize each child learns at their own pace. We have really learned how to become advocates. Some days are extremely stressful but the good outweighs the bad. We never knew that adopting Kevin was going to take us on this journey but we wouldn't trade it for anything in this world. We tell him all the time that he's a limited edition and he came to us, special delivery. We are the lucky ones who got him. He’s a handful of love."
Written by Stacy Limperis