Cognitive Age: 12 months
Therapies: Speech, Occupational and Physical therapies
Schooling: Not quite school aged, but he attends The Rise School of Houston. It is an integrated school with ~1/3 of students typical & 2/3 with special needs
Parents: Samuel and Amy Stafford
Kabuki Symptoms: KDM6A variant, hyperinsulinemia at birth (required 10 days in the NICU & treatment with diazoxide, resolved by the time he was just over a year old) short stature, flat block feet, most of the common facial features (long eyelashes, etc.), scrunch face!, feeding issues early in life, hip dysplasia (wore a harness when < 1 year old to correct), seizures (last at 2-3 months of age), atrial septal defect, acid reflux as a baby (resolved), high arched palate, hypotonia, bifid uvula, sacral dimple, strabismus, growth delay, anemia as a baby (resolved), obsessive tendencies / repetitive behavior, schizencephaly with partial agenesis of the corpus callosum. And sunny disposition!
Jude's Story: When you're pregnant with your first child, everything is scary and new. You don't know what to expect, and no book can really ever prepare you for parenthood. But it's an exciting new journey to embark upon, and all any parent wants is for their child to be born happy and healthy. Unfortunately, that's not always the case, as the Stafford's learned at their 20-week ultrasound. It was then that they learned not only that their baby was a boy, but that he had something going on with his brain. Initially, the doctors thought it was hydrocephalus, but an MRI ruled that out. A cyst was noted on the MRI, but it wouldn't be until after Jude was born that the Stafford's would learn what was really going on. Other than that one thing, Amy's pregnancy was relatively normal and she went into labor just prior to 38 weeks gestation.
After Jude was born, he wasn't much in the mood for eating so doctors checked his glucose level. It was less than 40. Jude was sent to the NICU at the hospital where he was born and put on IV dextrose. He was also exhibiting signs of a breathing problem, having apnea episodes the first two days and was placed on a CPAP machine and cannula for oxygen. After just one night in that hospital, the team decided that Jude needed more specialized care and he was transferred to Texas Children's Hospital. His dextrose continually needed increased, so a PICC line was placed. At Texas Children's, the endocrinologist decided to switch from dextrose to dioxazide, which worked almost immediately. Genetic testing was conducted to determine if Jude had hyperinsulinemia, but the results would take some time. In the meantime, Jude needed an NG tube placed for feeds as he was not interested in latching on for breast feeding, and Sam says, "He was VERY SLOW with taking a bottle. I remember we had to basically squeeze the milk from the bottle to feed him for months."
Jude spent 10 days in the NICU before he was discharged to go home, and the Stafford's knew their lives were going to be very different going forward.
A short time after discharge, just as everyone was getting settled in and used to their new routines, Jude began to have seizures, and his reflux was impacting his ability to gain weight. Jude was admitted, again, to Texas Children's so that tests could be run. An EEG showed abnormal brain waves, and he was put on Keppra to help with seizures. A nutritionist changed his formula to something more concentrated to give him extra calories in a smaller volume. Sol-carb was also added to assist with his sugar. After five days, Jude was discharged home again.
Things were going relatively smoothly after that, until the Stafford's took Jude for his two-month follow up with the endocrinologist. The testing for hyperinsulinemia came back negative, but there was an incidental finding: Kabuki syndrome. Jude was sent to a geneticist for confirmation testing, where the Stafford's learned he has the KMD6A mutation. Due to that finding, Jude was sent for additional tests to look for common problems that occur with Kabuki. An ultrasound revealed he had hip dysplasia, so Jude used a Pavlik harness from 3-7 months of age. Immunologic testing revealed that he wasn't responding to his vaccines as he should and that his immunoglobulins were low. Thankfully, Jude has only experienced a few ear infections, though. A neuro-opthamologist was added due to Jude's inability to completely focus all the time, and his eyes would occasionally turn in. The Stafford's did patching, alternating one hour per eye, per day to assist with the pulling. He still has strabismus, but only his left eye turns in now.
Jude also had a brain MRI, which revealed that the fetal diagnoses of his brain were incorrect. He has schizencephaly and partial agenesis of the corpus callosum. According to the National Institute of Health, schizencephaly "is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain." This disorder was also affecting Jude's right occipital lobe. According to the National Organization for Rare Disorders (NORD), agenesis of the corpus callosum "is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres."
The remaining part of Jude's first year was characterized by many doctor's appointments and beginning weekly therapies. His sugar was checked multiple times a day, and by the age of 14 months, Jude was able to wean off the dioxazide. He got his first pair of SMO braces at 16 months, which enabled him to crawl and pull up to a standing position. He began feeding therapy when the Stafford's transitioned him to solid foods, but it only lasted 3 months as Jude began to eat quite well on his own. At 17 months, Jude started attending The Rise School in Houston, something he now loves and has aided in his development.
While Jude passed his newborn hearing test, when he wasn't talking "on time," he was referred to an audiologist. Jude wasn't thrilled about participating in the testing, but an inner ear test revealed he had extra fluid on his ears. Tubes were placed and an ABR was performed under sedation, which Jude passed. Within two weeks of the tubes being placed, Jude began to walk independently at 29 months. Yes, he was delayed, but it would be hard for anyone to walk with extra fluid in their ears affecting balance!
Jude still isn't talking, but that doesn't mean he doesn't understand things. He communicates with his parents and teachers by using some signs and showing them what he wants. He is also capable of following directions, and with that amazing Kabuki memory, he recognizes when they are going somewhere he has been before. He may be delayed in some areas, but he definitely has the ability to learn and grow, and he always exhibits the natural Kabuki sunny disposition!
Jude’s Favorites: "Jude loves to be outside! He enjoys going to the park (swings are his favorite), riding on the back of daddy’s bicycle, visiting the zoo, and going for walks. Jude also loves to go out to eat. He recently became interested in Disney movies (Moana & Frozen) so Santa brought him an iPad Mini for Christmas. Jude loves all music and he moves his whole body to any song with a good beat! Jude dislikes waiting for food to be served and blood draws!"
Advice for Kabuki families: "Hang in there! Try to find some time for yourself. It can be difficult to trust someone else to provide care for our son, but it’s very important to have that resource for the occasional night out, etc."
Advice for parents of “typical” children: "It’s hard! It’s also worth it! We only have 1 child, so our only comparisons are nieces/nephews, and our friends’ children. From what I can tell (at least in Jude’s case), is that it’s sort of like raising a “baby” for a really long time. At almost 3, Jude still doesn’t really sleep well through the night, doesn’t communicate all that well, and still needs lots of help with eating. It can be pretty frustrating when you see a kid half his age that already seems self-sufficient. One of the things that bothers me the most (and I try not to let it show / I wish it wouldn’t) is when a parent of a typical kid complains about something their child does that I WISH Jude could do. For example, making jokes like “once they start talking, they just won’t stop”. Or saying their child asks “too many questions”. Obviously raising a “typical” child presents totally different challenges, and parents need to vent, but it can be frustrating to hear some of those complaints."
How Jude has impacted the family: "Well, we spend a lot more time at doctors’ offices and therapies than I ever thought we would. It can be difficult watching others’ typical children develop at a quicker pace than our own sweet boy. I think having a KK has made me more compassionate and very appreciative of all of the wonderful teachers, therapists, etc. that work so hard with our son."
Sam and Amy Stafford have done everything in their power to make sure that Jude has the best shot at life. So far, they have succeeded in getting him the early intervention he needed to ensure that he has that shot. He still has some catching up to do, but with the help of their amazing nanny who picks him up from school every day and sometimes takes him to appointments, Jude is getting all of the love and support a child could ask for. The Stafford's are doing an amazing job with Jude, and it's written all over that sweet little face that he knows he is loved. He knows he has support and he knows he can do anything he puts his mind to. Because that's what he is shown every day!