KK Name: Scarlett Brownell
Age: 13 months
Cognitive Age: 7 months
Therapies: Occupational, Physical and Speech therapies, weekly
Parent: Zackariah Brownell
Kabuki Symptoms: Scarlett has hip dysplasia, severe hearing loss, early breast development, developmental/cognitive delays, hypotonia, sensory overload, GI complications, chronic ear infections, ear tubes, low muscle tone throughout, slow growth
Scarlett’s Story: Scarlett Brownell may be just a year old, but she has already seen and been through a lot in her short little life. Before she was born, her mom had preeclampsia, which ended up causing Scarlett to be born a bit earlier than expected. Because her mom also has Kabuki, they underwent monthly high-risk ultrasound appointments and were very closely monitored. Because of the doctor’s diligence, Scarlett was born without any major complications. After birth, she almost needed treatment for bilirubin, but it ended up resolving on it’s own.
After Scarlett was born, most doctors didn’t believe her to have Kabuki syndrome. Some of that could be in part to geneticists thinking that Kabuki is “never” inherited, which is not true because it definitely can be passed along, just like any other genetic disorder. When her genetic testing came back, Scarlett was around 2 months old, and the testing confirmed Kabuki syndrome. There are very few families who have passed down the gene, and there are even a few families where the parents are not carriers but there are multiple children with the syndrome. Because of this, Scarlett is even more rare than most of the Kabuki kids in our community, but she is not alone either! It also meant that Zack had no idea what to expect.
As Scarlett’s first year progressed, she began to show more signs of Kabuki. She was slow to gain weight, slow to grow and has hypotonia. Zack is thankful that, overall, Scarlett hasn’t had any of the major medical complications that a lot of other Kabuki kids have.
When Scarlett reached about 9 months of age, she began to show a lot more typical signs of Kabuki syndrome. She suffered severe constipation, sensory overload, ear infections (leading to tubes) and developmental delays. She started her therapies around 8 months, beginning with PT and OT. Her occupational therapist is also a feeding therapist, so some sessions are straight OT and others work on eating. Zack says, “Her therapy team is absolutely phenomenal, and I can’t thank them enough! They help us to find things to push past a barrier we have hit, and all communicate with each other to help give Scarlett the best care possible.”
Scarlett’s mom is no longer part of their lives, so it’s just Zack and Scarlett now. Zack says that being the single parent of a KK has its challenges, but he has a wonderful support system. Not just friends and family, but the entire Kabuki community has stepped up a lot over the last few months. He says, “I have probably the best support network out there. Not only from family and friends, but my new family, the Kabuki community, has stepped up so much in the last few months. I could never imagine trying to do this journey without the love and support of the wonderful people I’ve met along the way.”
Scarlett just got her hearing aids in August, and Zack says they have already made a huge difference in her language development! She does very well with her aids, which is amazing. If your child wears hearing aids, you know just how difficult it can be to get them to keep hearing aids on! Besides gaining some support for her ears and language development, Scarlett also sees a dietician every other week and will begin to see a “teacher” who will help her with the hearing aid process.
Zack and Scarlett are waiting to be seen at Seattle Children’s to hopefully figure out the current GI complications, and they are waiting on the referral to see Dr. Adam in genetics as well.
Scarlett’s Favorites: “She loves to chew on anything and everything, play with anything that makes noise and to try and play peek-a-boo with piece of clothing/swaddle she can find.”
Scarlett’s Relationship With Her Siblings: Scarlett doesn’t have any of her own siblings, but Zack reports that she is around other kids a lot and does well as long as they respect her bubble!
Advice for Kabuki families: “Don’t give up. Don’t stop following your gut with your kids, because we know them best. Even in Scarlett’s short life, I’ve had gut instincts that something isn’t right and have been right more times than I care to admit.
Also to stay in community. Find your people in the community and learn to ask questions – you can never ask too many questions and it has been a life-saver for me to have a few people I can text (almost daily it feels) with questions that I trust.”
Advice for parents of “typical” children: “The biggest thing I’ve seen is just be supportive. Ask questions and truly listen to what they have to say. Don’t just start trying to give advice or suggestions, but truly listen. We have such massive medical teams with having a Kabuki Kid that we probably have already heard it before, and sometimes we just want someone to be excited with us that we have a new answer, or she made progress in what may seem a little thing. But for us, those little things mean hours a day of working with our kids for sometimes months.”
How Scarlett has impacted the family: “Having a KK has changed me more than I thought it ever would! I’ve learned/learning how to advocate and to go with my gut on things rather than just trusting what people say.
One of the biggest things I think is just having compassion for other parents. You don’t know the struggles their kids are having, so just trying to be understanding of others is something I never thought of before. Scarlett has helped teach me compassion and not to overlook the little things.”
Zack and Scarlett have an amazing and inspiring story! I had the pleasure of meeting them both in July at the ATK Kabuki gathering in Cleveland, Ohio. Scarlett let me hold her while Zack figured out where to cram the stroller in a room full of people and tables, and she is just the sweetest little girl! If her smile doesn't make your day, nothing will! They still have a long road ahead of them, their journey is just beginning, but with a fantastic support system, a team of therapists working together, and good doctors on their list to see, there is no doubt that these two will overcome anything thrown their way! Personally, I am excited to watch Scarlett grow up and show the world what an amazing gift she is.