When we were 31 weeks pregnant, we had a 3D ultrasound. Isabella had finally moved her hands away from her mouth, and that was when we discovered she had a cleft. From that point on, everything moved very quickly. Finding out so late in the pregnancy, we did not have much time to prepare. We switched doctors to a maternal-fetal medicine specialist and changed our birth plans to deliver at a different hospital equipped with a NICU. The final days of pregnancy were spent learning as much as we could.

About two weeks before delivery, we met with Matt Ford, a speech-language pathologist and the care coordinator at the ACPA Approved Team at UPMC Children’s Hospital. My mother-in-law attended the appointment with me. Matt spent two hours with us, answering all our questions and helping us to understand what to expect.

Isabella was born with a cleft lip, submucous cleft palate, and moderate to severe hearing loss. To date, she has had nine surgeries to repair her lip and palate, remove a tooth, and insert five sets of ear tubes. Isabella’s most recent surgery was a tympanic membrane repair. She began early intervention speech therapy at 18 months old and continues speech therapy through school. Every doctor who has cared for Isabella, as well as the entire team at UPMC Children’s, has been beyond fantastic.

Now they will begin seeing Isabella’s little sister, Julianne. She was found to share the same genetic gene as Isabella: an EYA1 variant. Variants in the EYA1 gene can cause a range of conditions, including BOR syndrome, BO syndrome, and cardiofacial syndrome.

Isabella is now seven years old and attends second grade at Western Pennsylvania School for the Deaf. She has an older brother, Mason (11), and two younger sisters, Cathlynn (6) and Julianne (19 months). Isabella is a very outgoing and personable child. She will be your friend the moment you meet her. She enjoys playing soccer, loves to color, and participates in both cheerleading and competitive cheerleading. She has had a good support system at school and while participating in sports. Coaches often make adjustments to accommodate her hearing loss and have even learned to sign. Cheerleading has embraced her the most. Her cheer team rotates so that all the girls have the opportunity to serve as cheer captain. They allowed Isabella to serve as cheer captain in September during National Deaf Awareness Month, which meant a lot to her.

It seems so scary when you first find out, but then everything has a way of falling into place—whether you are ready or not. NAM and other decisions leading up to surgery can be hard, but no matter what you choose, you still end up with a forever smile. We still miss her big, wide smile…it was her personality through and through.

We are grateful that in Pennsylvania, there is a state program that covers out-of-pocket expenses for families when their child is born with a birth difference. We were unaware of the program until the hospital informed us how much Isabella’s lip surgery would cost. At that time, the hospital helped us apply for the program. We have medical insurance, but this program picked up the other out-of-pocket expenses, including co-pays and co-insurance. Without this program, the expenses would have been tremendous, more than we were anticipating. I think every family in every state should have this type of coverage for their child. That is why ACPA’s healthcare advocacy efforts are so important.

-Alexandria & Joshua

(Isabella’s parents)

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