Age: 2 years
Cognitive Age: 18 months
Therapies: Physical and Occupational Therapies
Parents: Marcell and Erin Jones
Kabuki Symptoms: Hypoglycemia, feeding difficulties (tube-fed), partial eventration of the diaphragm, umbilical hernia, developmental delay
Aubrey's Story: When Erin and Marcell learned they would be having a baby, they were elated. They would be first-time parents and were ready to grow their family. Erin had a relatively normal pregnancy. In the third trimester, she began to measure two weeks ahead of where she should have. An ultrasound revealed no abnormalities, so she was monitored. At 38 weeks gestation, Erin had a prolonged water break, which caused both her and baby Aubrey’s heart rates to increase. Due to the tachycardia concerns, Aubrey was born by emergency C-section.
Having no indication that anything would be wrong with their baby, Aubrey quickly made it known that her life would not take the typical path of most babies. When she was born, her blood sugar was 14 and she was in respiratory distress. She spent 2.5 months in three different hospitals before the Jones’ were able to bring her home. She came home on three medications as well as with her feeding tube.
Aubrey had surgery to remove her umbilical hernia and a second surgery to place her feeding tube. So far, those are her only surgical procedures, which the Jones’ are really thankful for!
Doctors were stumped by Aubrey. She had several genetic tests done, all returning negative or inconclusive. But, after 18 months of searching, Aubrey was finally diagnosed with Kabuki syndrome, showing the KMT2D mutation on lab work. Marcell and Erin were relieved to have answers, an explanation of why Aubrey had been through so much since she was born.
Aubrey is now two and still solely fed by G-tube (as are many of our Kabuki kids!), and still takes two medications to help manage her sugar. She has occupational and physical therapies through the Early Intervention program, receives feeding therapy to help wean her from her tube feeds, and she gets extra PT on an outpatient basis.
Erin says, “This experience as first time parents has taught us patience and to come together through difficult situations. It has taught us to celebrate every achievement no matter how big or small.”
How right she is!
Aubrey’s Favorites: “Aubrey loves music and beats! She loves lights and anything that makes noise. She loves when you sing but especially the ABC’s. She loves Being home and climbing on all of the furniture. She dislikes baths, and getting her hair done.”
Advice for Kabuki families, as well as parents of "typical" children: “Give yourself grace and patience as you navigate through parenthood and all the additional appointments and therapies. You are doing the best you can for you and your child and family. Being there for your child first and foremost.”
How Aubrey has impacted the family: “Becoming a Kabuki parent has taught us patience and compassion, not only for our kids, but for parents going through this situation or something similar. It has taught us that children are miracles, and to be grateful for good health and to cherish and celebrate every milestone and accomplishment.”
Aubrey is certainly a light in this world! Marcell and Erin’s love for each other and for their daughter shines bright through her smiles. The future is bright for Aubrey, she is surrounded by family and friends who love her and celebrate every inchstone she passes!
Written by Candace Buchanan & Serena Burks