KK Name: Blake Mary Ann Roesch
Cognitive Age: Unknown
Therapies: Occupational, Physical and Speech (feeding therapy until age 3)
Schooling: Mainstream, co-taught classroom (regular teacher, special education teacher, teacher’s assistant and paraeducator present)
Siblings: None, but Blake has a husky named Luna and a heard of dairy cows!
Parents: Austin and Flow Roesch
Kabuki Symptoms: Hearing loss, vision impairment, Shone’s Complex, developmental delay, reflux, coarctation of the aorta, 2 ventrical septal defects, soft cleft palate, coloboma’s in both eyes
Blake’s Story: Most families have months, sometimes up to 8 months, to prepare for having a baby. Flow and Austin did not have such a luxury. Flow continued to have a regular cycle, no weight gain and no cravings during the first 6 months of her pregnancy. By the time they found out, she was 27 weeks along! And Blake, being a Kabuki kid who does things on her own time, decided that 32 weeks was long enough to be in her mom’s belly. So the Roesch family had just 5 weeks to prepare for their little one.
Shortly after learning she was pregnant, Flow began to experience some serious water retention. Everything below the waist retained water, her legs were so swollen that she could only get them as close as 6 inches apart. Three weeks after they learned they were having a baby, when they had just begun to get excited, the Roesch’s learned that their baby had a heart defect that would require surgery shortly after birth. They were devastated. All of that excitement vanished and they felt the weight of the world crushing their chests. Mom was put on bed rest upon learning about her baby’s heart.
Even though she was devastated, she handled the situation very well. She asked the nurses to leave the room for a few minutes, allowed herself to break down, then wiped the tears and called them back in to make a game plan. She learned early how to feel grief and then how to overcome and move forward. It’s not an easy feat, which you may already know if your little one has had any kind of surgery or has a more severe mutation causing more delays.
Blake was born via C-section at 32 weeks due to her heart rate dropping. Two weeks later, she underwent her first heart surgery. During this surgery, Blake’s right vocal cord became paralyzed. Her chest was left open for a week before the team felt comfortable closing her up. Just a couple of months later, Blake underwent another surgery to have a feeding tube placed. Even with the tube, her reflux continued and they went through 4 formulas in 9 months before finding one that worked. A Nissen Fundoplication was mentioned, but the Roesch’s opted not to do it for a variety of reasons.
When Blake was four months old, she had yet another set of surgeries. She had 2 hernias repaired, and at the same time had ear tubes placed due to her ear canals being small. Thankfully, the tubes have worked well as Blake has only had 1 ear infection!
From that time until Blake turned 1, her geneticist kept pushing CHARGE syndrome as a diagnosis. They did 3 DNA tests, all of which were negative, and Blake didn’t have enough symptoms to be diagnosed clinically. Flow decided it was time to stop seeing that doctor because he refused to listen to her cries about looking into something else. When Blake was 1½ , they took her to the eye doctor, who asked if they would be willing to go back to genetics. Since Flow’s mom has worked at their local hospital for over 30 years, Flow requested a list of potential doctors they could see. Grandma recognized a doctor from residency who was a good one, so Flow made an appointment. Good thing she did, too, because within 5 minutes of seeing the new doctor, he had a different opinion: not CHARGE, but Kabuki. Mom cried. Not because it was Kabuki, but because a doctor had finally listened to her, and she knew her gut was right!
Finally, they had a new direction to go, a new syndrome to look at and determine if this is what their daughter was battling. They googled and became overwhelmed. Then they turned to friends, who helped them see that just because there are a variety of symptoms associate with Kabuki, it doesn’t mean that Blake would have every single one. That helped them a lot, and while the genetic testing hasn’t been done to confirm the diagnosis, they have their clinical diagnosis. They hope to have their genetic testing done soon, once they can get insurance to cover it.
About this same time, it was discovered that Blake had a hearing loss. She passed her newborn screening, but ended up being fitted for a hearing aid by the age of 2.
Around the age of three, Blake had her second heart surgery. This time it was for mitral stenosis, and mom was a wreck during the 45 minute drive to the hospital. But she knew she had to keep it together for Blake and Austin, so she managed. Blake came through the procedure with flying colors! Unfortunately, this wouldn’t be her last heart surgery. Doctors let Flow and Austin know that Blake would eventually need valve replacements, likely about 10 years after that procedure.
Since then, Blake has flourished! She attends a mainstream school, and is in a mainstream classroom that also has a special education teacher and a paraeducator. The Roesch’s felt this was the best placement for her because of her heart condition, she can be monitored closely there. She is also 100% tube-fed, not because she can’t eat, but because she chooses not to. It’s something they will continue to work on with Blake as she grows, but they know that she has to be ready before it will work. Blake has a mild cognitive delay, but her biggest obstacle is that she hates to be tested. By the end of the 2017-18 school year, she “didn’t know” many things she had demonstrated she knew throughout the year. This year, she magically knows her colors, shapes, letters and can find her name when written or typed. Things her mom could not get her to practice over the summer!
During her last cardiology appointment, it was discovered that the supravalvular ring above her mitral valve, the one that had previously been removed in surgery, is growing back. There’s no date for another surgery, but it’s something they are watching closely.
Blake is a very special little girl, with lots of likes and only a few dislikes (listed below!). She has a very Kabuki personality and definitely does things when she’s ready and not a moment beforehand!
Blake’s Favorites: All animals (but mostly cows on her farm), Minnie Mouse, puzzles, glitter, being outside, her friends, babies, jumping in muddy puddles, swinging, UTV rides, walks and runs, Paw Patrol, school, riding the bus, helping daddy, sorting items, movies, singing, bubbles, books, swimming, and, of course, driving mommy to her breaking point! Dislikes: Stickers, worms, eating, leaving school and new people
Blake’s Relationship With Her Siblings: Blake may not have any siblings, but she absolutely adores her husky, Luna, and her dairy cows!
Advice for Kabuki families: Don’t stress the little things. Enjoy the achievements not matter how small they are. All your feelings are valid, don’t hold them back. Fight! If you don’t like the answer you are getting fight back. We are on our 2nd GI and Genetics doctor. Don’t worry about keeping up with the Jones’, they should be busy keeping up with you. You are strong, and its okay to cry to be strong.
Advice for parents of “typical” children: “Dear parents of normal children,
There is no “FIXING” her.
I understand that you are only trying to be helpful to get her to eat but we’ve herd it all and have tried it all, but thank you for your ideas.
Please do not complain that your child has a cold, when Blake gets a cold her secretions cause her to gage and she loses weight with every cold because of the feeding being thrown up.
Yes, she is delayed and no, we are not holding her back. Her personality not allow her to thrive from repeating the grade over. It is up to us (parents) and the special education team.
Different is beautiful!
Yes, I know you don’t know how I do it as a special needs mom and I don’t expect you to. So please refrain from this statement.
The DNA sequencing happens at week 4 of pregnancy, so no there was nothing that we could have done differently to prevent this. But that doesn’t mean the guilt of not growing a “healthy” baby ever goes away."
How Blake has impacted the family: “Having a KK has taught us patience and has pulled us closer together. It has taught us that its okay to go at your own pace, but that took a couple years to be okay with it. We had some denial that we had to rise above and except. Understanding that being different is okay. Blake is behind in some areas but then she’s ahead in other places. At the age of 4 she could put and 24-piece puzzle together with only looking at the box once. (brand new puzzles) She is so independent that she will only ask for help if it is absolutely necessary.
The Roesch family has dealt with quite a lot in a short amount of time, but they have been blessed with a lot of support from family and close friends, most of whom check in on them on a regular basis. This gives Flow a chance to vent without being judged. She also finds a lot of support in the Kabuki Facebook groups. She says she finds the most support there, and those groups are one of the big reasons she doesn’t feel alone on this journey.
Blake still has some things she will have to deal with, things she will have to overcome, but there’s one thing that comes with Kabuki syndrome that sets these kids apart from the rest. They don’t know how to give up. The word “quit” is not in their vocabulary. So no matter what pops up in front of them next, Blake is going to overcome it with flying colors. And so will her parents, who have already proven that their willingness to fight for their daughter will trump anything anyone else says!