Jacob McMillan

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Age: 11

Cognitive Age: 6

Therapies: Physical and Speech Therapies

Schooling: Special needs schooling

Siblings: Hannah (11, twin)

Parent: Teresa Laviniere

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)

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!”

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Jacob's Favorites: "Music and dancing, learning about more music artists. He loves musical instruments, loves Zumba dancing, he joins me at classes and can memorize the routines!! He loves people, meeting people, waving at people. Loves babies. He wants to be a DJ. Doesn't like swimming or animals."

Jacob's relationship with his sister: "Hannah is an incredible young carer who knows what he needs. Her caring for him a blessing to see."

Advice for Kabuki families: "It is challenging, the procedures and appointments to keep up with. It gets easier It does, they show you a different perspective on life. Admire them, enjoy them, all that they achieve will inspire you. Shower them with love, their love and joy will fill your heart. They will show you ways in which they learn and enjoy life to really make you smile."

Advice for parents of "typical" children: "I would encourage to watch their interests and help them learn through their love and passion. Their learning power is finding ways to unlock information. They are geniuses. They go through so much, they are to be admired for their strength and determination. They really are warriors."

How Jacob has impacted the family: "It's been challenging. The lack of understanding is very difficult, there’s not enough awareness about children with a disability. It has made me stronger in mind and appreciative about children born with a syndrome. Blessings, gifts they are, to see how strong warriors they are that through their obstacles, procedures how resilient and strong positive and happy they remain. I have learnt and it encourages me. Jacob makes me feel joy when I think about how far he has come. He has determination that drives me to want the very best for him. I see the world in a different way and learn from him. It’s definitely made me a stronger person."

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As a parent of twins, Teresa was already going to have her hands full with Hannah and Jacob. Jacob did his best to make life interesting in the beginning, but now he’s teaching his mom and sister about love, acceptance, understanding and bravery. He’s learning through music and teaching others what pure happiness truly looks like. Jacob makes the world a brighter, livelier and happier place every day!

Written by Serena Burks