Cognitive Age: Not recently measured
Therapies: Physical, occupational and speech therapies from birth to present, plus intensive voice therapy and training around age 17, ABA when younger
Schooling: Joshua was mainstream with one-on-one EA support and an IEP until grade 5, then transferred to graduated support and life skills classes for grades 6 and up
Siblings: Madison (16)
Parents: Sophie and Doug Martineau
Kabuki Symptoms: Autism, OCD, ADHD, hearing loss in left ear, vision impairment (glasses), imperforate anus (corrected at birth), intestinal malrotation (corrected at 4 days old), patent urachus, rectal prolapse, ear tubes, cleft palate, dental issues, strabismus, temporal lobe epilepsy (absence seizures, hallucinations), Tourette's syndrome
Joshua's Story: The majority of Sophie’s pregnancy with Joshua was pretty normal. She had low amniotic fluid resulting in a month of bed rest, but by the end of that month her fluid was back to normal. Joshua didn’t follow the normal pattern of most Kabuki kids in coming early, instead Sophie was induced at 41 weeks gestation. That wasn't the only difference, Joshua was also 9 pounds and 4oz at birth. Unfortunately, labor ended in an emergency C-section because Joshua’s heart rate dropped to dangerously low levels during delivery. Sophie and her doctors also believe that she may have had gestational diabetes during her pregnancy, resulting in Joshua's size, but it went undetected. When she ended up with the disorder during her second pregnancy, the thought arose that she likely had it with Joshua as well.
Once he came into the world, Joshua’s blood sugar was off, but doctors had no trouble stabilizing it. That wasn’t the only issue, though. Joshua had an imperforate anus, malrotation of the intestines and patent urachus, all which required surgery within the first few weeks of life, during which time he would also require two blood transfusions. Although he wouldn't talk or even mimic sounds until age 4, Joshua used sign language and gestures to communicate until he could form words, making sign language his first language.
The surgeries were just the beginning for Joshua. At six months old he had his cleft palate repaired. He would have several sets of ear tubes placed early in his life. Later, he would have eye surgery to correct his strabismus, an otoplasty to pin his ears, repair of advanced rectal prolapse, tympanoplasty to repair a perforated ear drum, various and multiple dental procedures. Most recently, Joshua had a hallux valgus reconstruction, which included a bone graft from his hip to his middle metatarsal on his left foot and installation of pins and hardware.
Although Joshua struggles here and there, he continues to pursue his dreams and relies on his faith to help him stay happy. He was in mainstream school through grade five, with a one-on-one educational assistant and IEP in place. After that, he was transferred to life skills classes for grades 6 and up. He is eligible to remain in school until he turns 21. He is currently 18, and while last year would have been his grade 12 year, Joshua opted to stay longer. He also has a part-time job at Walmart as a greeter, a job he’s held for the last two years. His recent foot surgery has had him out on medical leave for 4 months, though, and he is considering finding a different position.
Around the time Joshua would have transitioned to the life skills classes, he began to have auditory, visual and olfactory hallucinations. It is thought this has to do with his temporal lobe epilepsy. Joshua was prescribed gabapentin and CBD for his chronic back and nerve pain, but a welcome side effect has been getting some relief from his hallucinations and seizures as well.
Sophie says that the Kabuki journey has been bittersweet, “I love my son with everything I am and for everything he is, but given the choice, I would take Kabuki from him if I could.” She says she gets by with the help of her immediate family and her Kabuki Facebook family, but she really draws her strength from her faith as a Christian. She also appreciates Joshua’s service dog, Mason, who is retiring soon. Rosie is his new service dog, currently in training, and will take over for Mason when she is ready. Having the dogs there really helps give peace of mind when Joshua is not with her.
Joshua’s journey has not been easy. He’s had 18 sedated surgical procedures, averaging at least one surgery per year of life. He lives with chronic pain, and the hallucinations have caused him a lot of distress. The hardest part is that he is high-functioning and self-aware enough to have “typical” dreams for his life, and he also understands what he is missing out on because he is developmentally and physically hindered. He dreams of having a career, a wife and children, but it is unknown if that will be possible for him. We all pray that he can realize as many of his dreams as possible!
Joshua’s Favorites: "Joshua loves watching and going to the movies. He loves to read and play video games. He loves hanging out with his best friend and most recently his favoirite thing is talking to his girlfriend, Lauren, who also has Kabuki Syndrome. They plan to meet face to face in March when she comes for a visit for his 19th birthday. This is exciting! He dreams of being independent and having a family if his own someday."
Joshua's Relationship with his sister: "In their formative years as babies and toddlers they were extremely close and inseparable, but as they grew and changed interests they grew apart. They still love each other dearly but have very different interests and don’t do things together as they once did. Once they seemed like twins...now his sister has surpassed him developmentally, which can at times be upsetting to Joshua."
Advice for Kabuki families: "Trust your gut. You know your child better than any doctor. Lean on the families who have lived this amazing journey before you for wisdom and support. Let your child show you their strengths and limitations instead of the other way around. Never assume they cannot do something. Your fear of their failure can hinder their growth."
Advice for parents of “typical” children: "All kids have trials, ups and downs, behaviors and challenges. But KS is a whole different life and any challenge is amplified times 10, sometimes times a hundred . To parents of neurotypical kids.... don’t withdraw from us because our life is so different or challenging. Talk to us and support us. Just listen and be a friend."
How Joshua has impacted the family: "I have learned that what doesn’t kill me does (but not always ) make me stronger, but that there is beauty even in the harshest of circumstances. I have found an amazing network of other Kabuki families to learn from and lean on and even sometimes help."
Joshua, who will be 19 in March, is an inspiration and a light. His journey has been hard, not just full of medical procedures and appointments, but hallucinations and behaviors he did not understand. He has amazing dreams, dreams he may yet realize, and he gives parents of younger Kabuki kids hope. Hope that their child, too, will overcome their obstacles and realize their dreams. Hope that their child will hold a job and have some semblance of independence even if they live at home. Sophie and Doug have raised an amazing young man, a young man who still has a very bright future.