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May. 13, 2022

TOPIC: Patient Stories

Summerly’s Rare Journey

Posted by Julie Ostroff

I am a parent to a daughter with genetic disorder 22q11.2 deletion syndrome (commonly known as DiGeorge syndrome). She was born on July 1, 2021 and diagnosed on July 23 through a chromosomal microarray blood test. The entire month of July was a whirlwind. Her health issues began with seizures at home around nine days old, which is what caused us to take her to the pediatrician. The pediatrician then sent us to the Akron Children’s Hospital neurology department. We found out that her newborn immune system screening was abnormal. We ended up being admitted to the hospital with her for 18 days.

Summerly’s health issues, along with her 22q, include seizures, aspiration, feeding intolerance, reflux, hypocalcemia, lymphopenia and hypoparathyroidism. Her current care team includes her pediatrician, geneticist, plastic surgeon, speech therapist, nutritionist, GI, immunologist, neurologist and endocrinologist.

Although 22q11.2 deletion syndrome is known as a “rare genetic disorder,” it is actually the second most common genetic disorder, after Down syndrome. However, there is still a lack of awareness and information about it.

Although my daughter was diagnosed after birth, I believe she could have been diagnosed prior to birth due to an abnormal prenatal ultrasound. The ultrasound led us to seeing a maternal fetal medicine (MFM) doctor and a genetics specialist. They ultimately ruled the echogenic focus finding on her heart “no concern,” because they were only looking for Down syndrome.

About 1 in 4,000 people are diagnosed with 22q11.2 deletion syndrome. However, medical experts believe this number to be even higher due to people living with this syndrome unknowingly. 22q can affect every system in the human body, with nearly 200 mild to serious symptoms.

I work to raise awareness and provide education about 22q through my website,