Jenna’s Journey with Kabuki syndrome

Jenna Riley

“This extremely rare disorder only affects 1 in 32,000 newborns”

Health concerns plagued Jenna’s life from the very beginning. Tests revealed that there was an excessive amount of amniotic fluid (polyhydramnios) surrounding her in the womb, a condition known to cause premature birth. Doctors also discovered that Jenna’s left kidney was not forming correctly. She was born five weeks ahead of schedule, already suffering from breathing problems and a hole in her heart, both of which would take years to resolve themselves. When Jenna was seven weeks old, she was placed on a feeding tube to meet her dietary needs because she could not suck or swallow. The sweet little baby girl would cough and gag due to her severe reflux.

Five months later, she was diagnosed with having a duplex collecting system, two ureters (tubes that carry urine from the kidney to the bladder) instead of just one. Complications include frequent urinary tract infections, backflow of urine into the kidney, and kidney damage. As a result, Jenna had to have surgery to repair her left kidney. When Jenna turned one, she underwent another surgery to salvage her kidney. At that time, she was also fitted for a hearing aid and began attending speech, occupational, and physical therapy.

As Jenna grew, doctors piled on diagnosis after diagnosis to explain her various symptoms. At age six, Jenna required surgery to remove a bladder stone, a hard mass of minerals that had collected in her bladder. During this procedure, Jenna’s doctors found that her other kidney had a duplex collecting system that needed repair as well. By the time Jenna was eight, doctors had a new diagnosis for her called Hashimoto’s disease, a condition in which the immune system attacks the thyroid. The resulting inflammation from Hashimoto’s disease often leads to an underactive thyroid gland (hypothyroidism), which can cause breathing and swallowing problems, coma, and heart disease. Jenna takes medication to restore adequate hormone levels to her body and reverse all the symptoms of hypothyroidism. She will likely need thyroid hormone replacement therapy for the rest of her life due to her body’s natural deficiency.

Back in the operating room at age 11, Jenna had her tibia surgically broken and rotated in order to straighten it to improve her gait. She now has plates and screws in her knees.

After years of health problems, Jenna underwent genetic testing that gave her a more comprehensive diagnosis. She has Kabuki syndrome, an extremely rare congenital disorder that affects 1 in 32,000 newborns. The condition is associated with developmental delays, intellectual disabilities, heart abnormalities, hearing loss, weak muscle tone, and problems with the hip and knee joints. As if her extensive list of medical maladies weren’t enough, Jenna was also diagnosed with mild spina bifida, a birth defect in which the spinal cord fails to develop properly, and severe kyphosis, an exaggerated rounding of the back.

Now 16, Jenna has an easygoing demeanor and is well liked by all who meet her. Jenna uses an iPad with a keyboard to write as she lacks the fine motor skills to grip a pencil. Queen of the DVR at home, Jenna enjoys watching cooking shows and courtroom dramas.

Kids Wish Network is hard at work planning a once-in-a-lifetime experience for Jenna; make sure to stay up to date by checking back soon for all of the fun details of her fabulous wish!

 

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Kids Wish Network is a charitable organization dedicated to infusing hope, creating happy memories, and improving the quality of life for children having experienced life-altering situations. Kids Wish Network assists children and their families through several key programs.