Jolee’s Journey with Kabuki Syndrome

When I was 20 weeks pregnant, we were told our little girl would have to embark on a journey we never dreamt of. Along the way, we’ve learned life lessons, viewed life through a different lens and stood by our little fighter as she overcame so many obstacles.

We went to see the perinatal specialist in the middle of the pregnancy and learned even more about Jolee. I can’t say the discoveries were good or that the appointment was easy, but we did get to see her beautiful face and body dancing on the screen. We learned that she only had one kidney and that her combination of abnormalities could be an array of different chromosomal defects or syndromes. Additionally, the doctor noted some fluid in her chest cavity and was stumped as to what was causing it. Either you have a heart defect that is causing the fluid or the fluid is pushing your heart over. I also had blood drawn to see if she would have Down’s syndrome, Trisomy 13, or 118. These tests came back negative.

Jolee was born on May of 2013. She tipped the scales at 9 lbs 13 oz. While it was a relief to see that she looked physically healthy, we knew we had many tests ahead. While in the NICU, we confirmed an ASD and VSD in her heart, a horseshoe kidney, and a sacral dimple.

As months went by, I noticed several red flags that I knew belonged to a greater answer. I researched for days and prayed for answers. Finally, I found the answer: Kabuki Syndrome. It explained our girl from head to toe: blue sclera, thick eyelashes, ptosis, eyebrow shape, high palate, persistent fetal pads, premature breast development, sacral dimple, eating difficulties, hypotonia, and possible scoliosis. I presented my findings to her geneticist and she was given a clinical diagnosis. The geneticist had only seen one other case, years before! Her photos were sent in to a kabuki specialist and lab work was sent to test for any MLL2 gene mutations.

So here is the beginning of a lifelong journey with our amazing Kabuki kid.