Kabuki Symptoms: Hypotonia, undescended testicle, inguinal hernia, raised diaphragm on the right, hip dislocation, sleeps with eyes open, deaf, narrow airway, growth abnormalities, globally delayed (speech, cognition)

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Jacob's Story: Learning you’re expecting a child comes with a multitude of emotions. Whether you’re a first-time parent or not, each pregnancy is different. When you learn you’re having twins, you already know that when the babies come, life is going to get crazy. Now imagine that those twins came early, at 32 weeks and one babe is sickly. That’s exactly what happened to Teresa when she was pregnant with Jacob and Hannah. When they arrived too soon, a hospital stay was inevitable. What was not expected, though, was that Jacob’s stay would last two months longer than Hannah’s.

 

Early on, it was clear that Jacob was different. He had a blood flow problem in utero, which is what caused Teresa to go into early labor. But even after he was born, his growth was slow. His hernia grew and needed an operation when he was 10 weeks old. He was transferred to a different hospital for that procedure, what would be the first of many. His reflux was a constant concern, especially with his slow weight gain. He was prone to respiratory infections and spent a lot of time on antibiotics. Doctors ran a plethora of tests to determine his syndrome, but nothing was found.

 

Because of his drooling and feeding issues, Jacob was referred to ENT where he failed his newborn hearing screening. Using a local anesthetic, the doctor was checking to see if ear tubes (grommets) were needed when he discovered that Jacob had a narrow airway. The treatment was a two-year process of ballooning the airway every 6 months in order to stretch it out.

 

In addition, Jacob’s doctors had concerns about his diaphragm and undescended testicle. The diaphragm is monitored to ensure that its growth does not interfere with Jacob’s lungs. The testicle was operated on for descension. It was noticed that he had a hip dislocation along with his low muscle tone, so he has regular scans to keep an eye on his hips.

 

Finally, around 2 years of age, Jacob was referred to a geneticist at Great Ormand Street. The geneticist was able to identify the classic Kabuki syndrome characteristics, and a blood test later confirmed that Jacob indeed has Kabuki syndrome. Once that diagnosis was made, there were more appointments and tests on his heart and kidneys. Thankfully, all of those came back clear. Teresa says, “It was a relief to know what to deal with after so much speculation.”

 

Many of us know that feeling all too well. It’s not just about knowing the cause, the cause often doesn’t change the treatment. But knowing that there is a legitimate cause and knowing that there are other families out there who battle the same things is a giant weight lifted. It’s when we learn that we no longer have to fight alone. Since Teresa also still had Hannah to care for, having that diagnosis and a direction to go was huge. She relies heavily on God to get her through, along with friends who also have special needs children.

 

With that support and her faith, Teresa has been able to maneuver Jacob into a phenomenal educational situation. He started out at a mainstream school with his sister, but the school struggled with resources and understanding. There was a lack of awareness around understanding children with different learning abilities and a lack of communication with parents. She became frustrated that schools boasted of inclusion without having the resources to actively celebrate disability. So, Jacob now attends a special needs school where they teach him in the best way possible for him: through music.

 

Jacob strives to push forward and is determined to learn and be independent. He loves people and is always positive and happy! Learning through music has only increased his love for both, and Teresa boasts that he knows more music and artists than most adults! He dances to beats and rhythms in perfect timing and is gifted in playing the guitar. Teresa says, “He is teaching me and his sister so much. He is a joy and meets people with a show of love. He is a reflection of God’s love and guidance!”