Personal Stories

An Emotional Journey

In many ways, our two-year-old daughter is a typical toddler. She loves to play with her dolls, watch Play School, and jump on her mini trampoline.

Rothany's Story

Rothany is now age 11 and came into our world on the evening of August 8, 1997. It was a difficult delivery with her cord extending only a few inches out of the womb. She was small and frail weighing only 5lbs 2oz. Rothany was born with an imperforatei anus. She spent her first five days in the NICU due to a nurse thinking they had heard a heart murmur. She was three days old before her mother, Thida, got to see or hold her due to Thida’s own complications during the delivery. Everybody went home healthy on August 13th.

My Kabuki Syndrome Journal

Even though Kabuki has it’s up and downs, I never want to get rid of it. It’s my life and I love it.

All of my life, my Mom and Dad have known that there was something different about me. But until I was about age 11, they did not know what it might be. We finally went to UCLA Medical Center in Los Angeles California where the doctors did some tests and diagnosed me with Kabuki Syndrome.

Greetings from Norway!

Our family consists of Ingunn, Frode, Kristine 4 ½ years old and Andrea 3 ½ years old. Kristine was born in April 2003 at 37 weeks. My pregnancy was quite difficult as I had pre-term labor at seven months and had to lie down for 5 weeks. My labor went very fast, and we were so happy the first hours after she was born.

Corey - Our Little Miracle

Corey is our eleven year old son. He was diagnosed with Kabuki syndrome when he was five. Corey was born missing his left ventriclei and has had nine open heart surgeries to repair his congenitali heart defect. He also had grade 4 bleeds on both sides of his brain.  He had a feeding tube until he was five and he still has difficulty swallowing properly. He had cataracts removed from both eyes and has lens implants.