Kabuki Symptoms: Cleft lip/palate (multiple surgeries), 5mm ASD in her heart, developmental delay, cognitive impairment, failure to thrive, multiple ear infections, hearing loss (hearing aid for 1 ear)

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Abigail's Story: Abigail was born in China and taken to an orphanage when she was less than a week old, weighing 7 pounds. She had a cleft lip/palate and at the age of one year old, weighed only 11 pounds. In the spring of 2007 Abigail had surgery in China to close and repair her cleft lip. Abigail spent over 22 months at the orphanage and was diagnosed with “failure to thrive” due to feeding issues. Because Abigail was surrendered to the orphanage, there was no knowledge of her birth mother’s medical history or any complications there may have been during her pregnancy with Abigail.

In January of 2008 Abigail was adopted by Janell and Tim Wright, becoming the youngest of three children. Abigail weighed only 17 pounds, was nonverbal, and not walking when she was adopted. The first 18 months were tough. Abigail did not sleep through the night, and her mother Janell would be up nearly a dozen times each night trying to comfort and calm her. Refusing to be set down, and only sleeping when Janell held her a specific way, Janell would hold baby Abigail and lean against the closet door trying to catch some sleep herself! Janell’s exhaustion even led to her falling asleep driving one of her sons to school. After failing to find a way to get Abigail to sleep naturally, they began giving her melatonin and Benadryl to aid with her sleeping difficulties. This routine lasted a few years when they were able to wean her off the melatonin and eventually the Benadryl. Ironically enough they now struggle getting Abigail to wake up for school in the morning!

Abigail had her first surgery here in the states in March of 2008. This surgery was to redo her lip surgery she had performed in China, as well as to close the front and back of her palate. Abigail also suffered from multiple ear infections through the years, requiring her to have four sets of ear tubes (myringotomy tubes) placed over that timeframe. Having never had a child that needed surgery, it was very hard on the Wright family at first, but, as Janell put it, after the two surgeries they knew the drill and were like “been there, done that.” Admittedly though, having to adapt to be on top of all of Abigail’s medical and therapy needs was a big adjustment for Janell. Abigail has had a total of 13 surgeries already in her young life, most being for cleft issues.

In May of 2009 Abigail was diagnosed with Kabuki syndrome. Janell stated that there was absolutely no information out there for parents at that time. Abigail’s geneticist was researching Kabuki syndrome, and Janell was left speechless when she heard the name, because she had no clue what it was. She was instructed to go home and google it! Janell shares “So much has changed since that time and I really appreciate our Kabuki groups and the friends we have met at conferences.” It’s “always nice to message someone and say, “Does your KK do this?” or, “How do you handle that?” etc.”