Measuring 20” tall & weighing 7.6lbs, Perri made her long awaited debut on September 19, 2021 at 2:55am. Perri is our social butterfly, always wanting to be at the center of attention and making sure she’s never left alone for too long with her heart melting roar for attention. You can’t help but smile when she attentively draws you in with her piercing blue eyes and scrunchy nose smirk. She’s the spunky light of our lives.

Opting out of a “Gender Reveal,” the gender was a surprise to everyone, which made the moment when it was announced that we were having a “GIRL!” so much more special and memorable. The beautiful moment was quickly overshadowed by every parent’s worst nightmare… Within minutes of her birth, one of the nurse techs described her feet as being “clubbed.” Not understanding what that meant, we anxiously waited until our visit from the rounding Pediatrician the next morning. Thankfully he “reassured” us that her feet’s unique positioning was due to her position in the womb. We would later learn that she has Oblique Talus in both feet, which is a unique positioning of her feet, but should normalize over time.

Just when we started to settle down from the first scare, came the newborn hearing test, which Perri failed. She would go on to fail 3 more hearing tests. After weeks of sleepless nights and unbearable anxiety, at 5 weeks old we discovered that Perri was born with Conductive Hearing Loss caused by Bilateral Ear Canal Stenosis. Her ear canals are completely closed. With no family history of hearing loss, navigating this diagnosis was quite challenging and confusing and left us wondering how this could have happened… But, we knew time was of the essence to ensure her speech and language development. We immediately focused on getting Perri her “ears,” Bone Conduction Hearing Aids (BAHAs). After being deemed “unnecessary & uncovered” by our health insurance, giving Perri the gift of sound would become another challenge to overcome. Through some sacrifice and the support & love from family, at 9 weeks old, Perri got to hear Mama & Dada’s voices for the first time.

No Stone Left Unturned – Before her 18q- & Trisomy 18p diagnosis, almost every physician we met with dismissed her symptoms as “womb positioning” and just “bad luck” in terms of her hearing loss. However, Jan’s motherly intuition and healthcare knowledge led her to believe otherwise. We had to push and fight and jump through many hoops to ensure Perri received the attention she deserved. After meeting with Perri’s Pediatrician, she advocated for us within Kaiser and arranged for consultations with ENT physicians, Audiologists, Orthopedic Surgeons, Optometrists & many others…It wasn’t until our meeting with an instinctive Neurologists who suggested a genetic blood screening. She too was a parent and understood that we were living every parent’s worst nightmare and our pleas for help kept getting dismissed as casual infant symptoms. She knew this simple, routine test could shed more light on the situation and “hopefully” give us the peace of mind we were praying for. On Wednesday, November 24th, 2021, as we were getting ready to host our family for thanksgiving at our house , we received a call from the Neurologist. The reason and answer to our endless question “why?” was uncovered… Perri had an unusual anomaly on her 18th Chromosome, and she would later be diagnosed with a rare Chromosome 18 condition – Distal 18q Deletion Syndrome & Trisomy 18p Syndrome.

Show Your
Stripes!

The zebra, with its distinctive stripes, is the official symbol of rare diseases in the United States. When you see a zebra, you know it’s a zebra—but no two zebras have identical stripes just as no two people are identical. While we are all unique, there are many commonalities that unite us all.

Our “new normal” and Perri’s journey ahead is unknown but we know we’ll give her every opportunity to thrive. Most of all, we won’t let this imperfection define who she or our family is but rather shape this to be a small piece of her story. This is not who Perri is, this is small ingredient that makes-up the full recipe. What will define her is her courageous sprit, joy for life, and being our beautiful daughter and Jack’s baby sister.