AKA Addy Mae
Cognitive Age: 1
Therapies: Physical, occupational, speech, vision and nutrition therapies - all are weekly, except nutrition which is bi-weekly
Schooling: N/A - plans on school for the blind when the time comes
Parents: Ashley Boehm
Kabuki Symptoms: Genetically diagnosed KMD6A, eye disorders (bilateral colobomas, strabismus, nystagmus, CVI), low blood sugar, aspiration, feeding difficulty, high arched palate, submucosal cleft palate, laryngeal cleft, hypotonia, CHD (aortic stenosis, murmur), small size, flexible joints, happy demeanor, autistic-like tendencies
*Non-Kabuki symptoms: 2 additional chromosomal anomalies, microcephaly, born with a tooth, tongue tied at birth
Addy Mae's Story: Ashley’s pregnancy was relatively normal. She failed her 1 hour glucose test, but passed the 3 hour test. She had a pain in her side when she walked, which the doctors brushed off. Addy measured small throughout the pregnancy and her movements and kicks were extremely faint, barely noticeable, but the doctors weren’t overly concerned. At least, not until she went in for her 38-week checkup. Ashley wasn’t feeling well and they discovered that her amniotic fluid was almost non-existent and Addy was breach. They took Addy right away by emergency C-Section.
It was at this time that things really began to fall apart. Addy wasn’t breathing, and when she didn’t cry, Ashley knew something was wrong. As a nurse, she had enough knowledge to know things weren’t as they should be. She didn’t get to see her daughter right away because they had to bag her before rushing her off to the NICU.
Addy’s first 24 hours of life were hard. She spent the entire time on CPAP and battling low sugar. She was on IV dextrose and still struggled. Feeding was a struggle. Her second 24 hours she was on oxygen. Sugar battles continued, as did feeding problems. Doctors thought her feeding problems were due to reflux and said she would need to see a pediatrician to get a medication. Addy was in the NICU for 12 days.
After discharge, Ashley was back and forth to the pediatrician’s office on a weekly basis to address one problem or another. Addy wasn’t gaining weight. She was screaming all the time. Something was wrong with her eyes. At some point, a heart murmur was heard. Finally, she got an appointment with GI. The doctor took one listen to her and immediately ordered a swallow study.
In May 2017, the swallow study was completed. Addy failed. The study showed severe aspiration. It’s no wonder she was screaming all the time and not gaining weight! Addy was directly admitted to the hospital, where she would stay for 14 days. They started with an NG tube, then moved to an NJ, which is how they were discharged. Prior to discharge, they attempted to fix her laryngeal cleft, but it failed. Two weeks later, Addy would have her G-tube placed.
When she went in for her G-tube placement, Ashley learned even more about her daughter. In typical Kabuki fashion, Addy presented her new challenges the hard way, throwing mom to the wolves. She doesn’t tolerate anesthesia very well and holds her breath. One time she held it so long she actually stopped breathing. Her oxygen saturation dipped into the 30s, her heart rate plummeted, she was blue and purple. As an ICU nurse, Ashley was terrified. She knew how bad it was, but was helpless to do anything but watch the flurry of doctors and nurses surround her daughter. Ashley says, “As an ICU nurse at the time, I knew how bad it was! I’ll never forget that day!”
The G-tube surgery was in June 2017, Addy was just 3 months old. At the same time, they did a Nissen Fundoplication, which is helpful for severe reflux but is also difficult when Addy gets sick. The Nissen, which stops reflux by narrowing the end of the esophagus, also prevents vomiting. It’s hard on Addy Mae and sometimes makes her cry.
Since her rough start in 2017, Ashley has learned that Addy will need four eyes surgeries to correct her vision impairments. She has cortical visual impairment, which means there’s not just a vision problem, there’s a problem with the signal to her brain. Ashley hopes to send Addy to a school for the blind.
Addy also has some hard behaviors, but typically only presents them to Ashley. She fights her mom on everything, including diaper changes, by hitting, screaming and pinching, but she doesn’t act out for anyone else. She stims a lot, some days are worse than others, but she has not received an autism diagnosis at this time. She is always chewing on things and has certain fixations which set her off if not addressed immediately.
Luckily, Ashley has a fantastic support system. Her family is always there to help and the Kabuki community is always willing to lend an ear or pass along advice. She’s learned that if she’s going through it, there’s a pretty good chance that someone else already has! Ashley also looks to a higher power to provide strength when she needs it. And recently, she’s needed it. She left nursing shortly after Addy Mae was born because it was too stressful being an ICU nurse all day and then coming home to still be a nurse. She joined USPS as a walking letter carrier, which gives her more time with Addy. The problem is that she’s had several fractures in her feet and ankles from walking so much and was diagnosed with rheumatoid arthritis. The combination has seen her have to leave working altogether, but she remains positive. “I believe in some way this was meant to be. I am home with Addy every day. The stress of finances though is real. Thank goodness for my parents and friends to help me through this. I have more bad than good days but I push through for her. Some days I can’t get out of bed, but I do every morning because my girl needs me.”
Addy’s Favorites: "Addy Mae is the happies kiddo I know. I may be biased lol. She loves lights and music. Any combination of them and she is thrilled. She loves to stim with popsicle sticks and coasters. She has a ring that she tosses just to bend over and watch it spin.
She is afraid of loud noises. Example if our dog barks too loud and close to her, she will cry. She is easy to soothe.”
Advice for Kabuki families: "I would say when you are struggling whether it’s a small or big thing, reach out and talk it out. We will always be available to talk. Some way someone has walked those roads. We are here to help and for others to lean on."
Advice for parents of “typical” children: "I would like them to know it’s not the same. I have a friend who said it’s fine she’s fine. It’s hard work for her and I. We need to make sure she gets where she needs to be. It’s also difficult for others to understand that she is different. We get looks in stores when she stims by moaning but she is happy! It’s a very stressful time but again I would never change it for the world. We worry every second about their health and growth. Other parents just go with the flow. It’s a different style of parenting needed to raise a Kabuki kiddo. It’s the only parenting I know."
How Addy has impacted the family: "Her father didn’t want to be in the picture when she was born. He comes around now and then when it’s convenient for him. His family does not understand kabuki no matter how much info is provided. They want a “normal” grandchild and child.
Being a Kabuki parent has changed me so much. I love more, she has shown me how to be happy in life. Yes, it has bad times, but I look to the happy moments. She changed my life for the better and I wouldn’t change anything about my girl. She’s perfect. I believe there was a reason I had her. I will teach her and watch her grow through the good times and bad. My whole outlook on life has changed because of her and I love it and I love her!”
Ashley and Addy Mae are quite the pair. Addy is Ashley’s mini-me in the looks department for sure! The two of them have a bond that is unbreakable, Ashley will do anything for her daughter. Addy still battles sugar, is still tube fed and has not had her cleft palate fixed. Sometimes food gets stuck up there and Ashley has to scrape it off! There are currently no plans to fix it, especially since her laryngeal cleft repair failed. These two are such fun to watch together. If you’ve been to a Cleveland gathering, you know what I mean! Addy Mae is adorable and sweet and Ashley lives for her. They are absolutely amazing together!