Personal Stories

Greetings from Minnesota!

Our beautiful daughter Madeleine was diagnosed with Kabuki Syndrome shortly before her second birthday. When she was born, Madeleine exhibited many of the physical features that we now know are associated with the syndrome. Although some of her facial features could have been explained by the fact I am Asian and her father has Scandinavian roots, other characteristics (e.g., complete cleft of the hard and soft palate, deep sacral dimple, severe gastroesophageal refluxi, imperforatei anus, hypotonia, extreme flexibility, severe swallowing difficulties, et cetera) could not.

Austin's Story

On December 15, 2003, we found out we were expecting our second child and we were absolutely thrilled! There would be only 17 months age difference between our new baby and our oldest son. We decided to make the announcement to our family and friends on Christmas morning and it was the best gift that year! 

Charles-Antoine's Story

Charles Antoine made an entry to this world a month ahead on august 25 th 1996 when 75 people were attending his parents' baby shower…they missed. Weighing 5 pounds 3 ounces he was the biggest premature baby of the hospital and the most beautiful thing that never happened to his proud parents. With an 8-9-10 “apgar” test result, we couldn’t expect to live the kind of life we are used to now.

Daniel - A Mother's Thoughts

Hi, my name is Sue, and I'm the mother of a child with Kabuki. Our family includes my husband Tony and me, 14-year-old daughter Stefanie, and 11-year-old son Daniel who was diagnosed with Kabuki when a year old. I started out to write a typical family history, but while meandering down memory lane, I realized that what stands out most is not the numerous medical challenges we've faced, but the emotional roller coaster we've been on - and felt this is probably universal to us all.

Bella - The Light of our Lives

Greetings! We have 2 children, Bella - 4 years old, and Matthew - 2 years old. Bella was born at 37 weeks 3 days after a successful round of IVF. My pregnancy was difficult as I was very sick for the first four months, had pre-term labor at six months and was hospitalized for toxemia at 34 weeks.