Ava Lee is a vibrant five-year-old with an extremely contagious laugh and smile. She adores her big sisters and loves to spend time playing with them. Some of her favorite things are cake pops from Starbucks, Daddy’s ham and cheese sandwiches, (on very rare occasions) diet coke:), camping, and riding around our neighborhood singing in the car, just to name a few.

Ava was diagnosed with a rare genetic condition called Joubert Syndrome just after her third birthday in 2017. The first three years of Ava’s life, her diagnosis was unknown and we spent lots of time with various physicians trying to figure out the reasons for her symptoms. Joubert Syndrome is a ciliopathy characterized by an underdeveloped cerebellum, which is the part of the brain that controls balance, speech, and coordination. Joubert has many different causative genes and a wide range of symptoms. The severity of the disorder varies greatly. Ava’s gene is one that is known to affect the organs. We found out shortly after Ava’s diagnosis that she would need a kidney and possibly a liver transplant. Over the last year her kidney function has been relatively stable at between 15 and 20%. The doctors feel that a pre-emptive transplant will be best for Ava.

She has been active on the deceased donor list since July 2019. We found out last fall that a lady we had never met was being tested to see if she was a match for Ava. She is in the final stages of being approved and we are so thankful for her. At this time Ava will only need a kidney because the synthetic function of her liver is stable. We are so happy that Ava is not in any pain at this time. She does have some sleepless nights that are caused by itching, but once she is up moving around during the day, she does not miss a beat. Ava has impressed many physicians with her intelligence and “never give up attitude.” The Bible tells us that we are more than conquerors and we believe that with our whole hearts. We are trusting the Lord and his plan for all of our lives. We are forever changed for the better because of this sweet angel.

The Children’s Organ Transplant Association (COTA) helps children and young adults who need a life-saving transplant by providing fundraising assistance and family support. COTA is the nation’s only fundraising organization solely dedicated to raising life-saving dollars in honor of transplant-needy children and young adults. 100% of each contribution made to COTA in honor of our patients helps meet transplant-related expenses. COTA’s services are free to our families, and gifts to COTA are tax deductible to the fullest extent of the law.