Cognitive Age: 16
Therapies: Previously attended physical, occupational and speech therapies
Schooling: N/A - Adult
Parents: Bill and Sally Ballenberg
Kabuki Symptoms: Kabuki symptoms: Narrow palate, double-jointedness, displaced hip, lack of sufficient tooth enamel, short stature, low weight during early years of growth, reflux, feeding difficulties, low muscle tone, hypertelorism, speech problems/speech delay, drooling (which was addressed by removal of two submandibular glands), delays in reaching major milestones, undescended testicle.
Non-Kabuki symptoms: von Willebrand disease (diagnosed at age 6, prior to scheduled tonsillectomy/adenoidectomy; Sally was later diagnosed with von Willebrand at the age of 37)
Josh's Story: Bill and Sally were so excited to become parents. Sally’s pregnancy was pretty normal, an amniocentesis and ultrasound gave no indication that anything would be wrong with their baby. But on the day Josh was born, all of that would change. You see, Sally experienced some pain prior to going to the hospital. She thought it was a natural pain, but when she got to the hospital, doctors discovered a 20% placental abruption. Josh was in distress. Sally had trouble pushing, so she was given Pitocin and doctors used forceps to help Josh enter the world.
Josh’s first Apgar score was very low, but the second one was normal. Sally and Bill worried that there would be negative effects from the placental abruption and tough delivery, but doctors expressed that they didn’t need to be concerned. Except, as he grew, Josh failed to meet milestones expected for typical children.
He had early feeding difficulties that led to growth concerns. He had reflux, which at one point led to aspiration pneumonia and an ICU stay. Still, the Ballenberg’s believed the problems and developmental delays were due to such a traumatic birth. The next big obstacle would be Josh’s hips. One was displaced, leading to use of a Pavlik harness for correction.
Thankfully, the Ballenberg’s were able to get Josh set up with speech therapy early on, something they attribute to his success today. He started school in a typical preschool program but decided he would benefit from a special kindergarten program, which he attended for two years. After that year, Sally and Bill moved to a different state. Finding the right placement for Josh was difficult because he walked the line between needing intervention and not needing intervention. He wasn’t quite independent enough for mainstream schooling, yet he was higher functioning than some other special needs students.
So, when he started a new school in a new state, the Ballenberg’s tried mainstream first grade. They soon learned that this was not appropriate for Joshua and began advocating for him to be transferred to the special needs class. After that, he had an IEP in place to make sure his needs were met. Upon completion of fourth grade, Josh was transferred to a school for children with learning disabilities, a school he would attend until he received his diploma.
One of the perks of this school is that Josh received some school-based job experience, as well as working limited hours at local businesses. He spent time at a convenience store, Walmart and a movie theater. After high school, Josh continued to live at home but also held a part-time job. He struggled to find friends and was vulnerable to others taking advantage of him. However, at the age of 38, he is now living on his own for the first time, managing his first apartment and learning how to cook for himself. He enjoys working part-time at the movie theater, and because there is a fabulous transportation system in their area, Josh is able to explore the area on his own!
When Josh was young, the Ballenberg’s were told there was likely a syndrome causing his delays, but that they might never know what it was. Decades later, Bill did some online research, and they met with a genetic testing team at the University of Pennsylvania. Dr. Staci Kallish and genetic counselor Zoe Bogus were incredibly helpful and dedicated to getting answers for Bill, Sally and Josh. They completed genetic testing with this team, and finally, at the age of 36, Josh had a diagnosis: Kabuki syndrome.
Josh’s journey (and his parent’s!) has not been an easy one. Being on the cusp of needing intervention can sometimes mean the need to fight harder for your child, advocacy becomes more of a need, more of a battle. But it also means that Josh is now independent, working a job and living on his own. It may have taken him a little longer to get there, but his ability to work hard and learn the things necessary for independent living show just what our Kabuki kids are capable of!
Josh's Favorites: "Music, stories, plays, and movies have always been important to Josh. As he got older, he started playing Buddy Ball (baseball with kids who had a range of disabilities and challenges) and after that experience he was able to be a Buddy Ball Pal, working with the younger players. As an adult, he is a sports fan and enjoys attending games--whether baseball or basketball. His part-time job at a movie theater allows him occasional free passes to the movies--a great perk! He also enjoys attending BronyCon, an annual convention, where he finds some kindred spirits. At this year’s event he even served on a panel about sports."
Advice for Kabuki families: "Your child’s doctors, specialists, therapists, and other caregivers are important resources for learning and guidance, but don’t be afraid to question them if you feel your child isn’t receiving what they need. Initially, I (Sally) found it difficult to question medical authority, but a friend gave me courage to do so--for example, demanding that Josh be shielded when he was going to be receiving ongoing X-rays during his treatment for a displaced hip. At first, the doctor was saying, “I wouldn’t be doing anything different with my own sons.” But by the time we were continuing with the X-rays, the nurse told me, “You know, you changed the way we do this.” They had devised a way to shield Josh, tiny and squirmy though he was!"
Advice for parents of "typical" children: "Suspend judgment. We never know what others are going through.
How Josh has impacted the family: "Many of our workplace colleagues over the years were less likely to ask about our child--perhaps feeling that they don’t know what to say at times. And over the years, sometimes, we just didn’t want to go into the specifics when acquaintances ask what school he goes to, what his job/career is, what college he attends, whether he is married and has children.
We weren’t a part of the local schools and community. Resources came from the special school that Josh attended, his schoolmates and their parents. Teachers and therapists were so helpful in guiding us in finding additional resources. Although Josh made friends at school, those friends didn’t live in our neighborhood, so it was harder to get them together outside of school. And even though they all went to the same school, their personalities and challenges were very different, so it was still difficult to find appropriate playmates/friends to hang out with. We are thankful that Josh never has expressed any bitterness about his limitations.
As parents, we believe we are even more compassionate and understanding of other children than we would have otherwise been. We also have learned that we must advocate for our child, and in many different realms (medical, financial, social). As he got older, we started teaching him that he also must advocate for himself. Along with being advocates, we have learned how important it is to be knowledgeable about his various conditions and the resources that are available to him so he can lead a happy, productive life.”
Bill and Sally chose to keep Josh as their one and only, and they have dedicated themselves to ensuring he is successful for the last 38 years. Well, 39 years in December when Josh has his birthday! Their effort has been rewarded with Josh’s progress and ability to achieve independence. They are incredibly strong, and while Josh gets the credit for doing the work, these two get an award for creating a path to success!
Written by Serena Burks