Perspective 1: Jennifer

In 2005, after seven years of idiopathic infertility, my husband and I were overjoyed to learn that we had conceived naturally. Two weeks later, we were told that my husband would be deploying to Iraq and was not due to return until 10 days before our due date. 

Traversing our pregnancy (in essence, as a single mother), I dutifully pursued a quad screen, only to receive a panicked and hushed phone call from my doctor’s office asking me to come in for an ultrasound before opening hours. After multiple visits to a perinatologist and too many ultrasounds to count, I was told that our little one was “probably just fine.” No further genetic testing was offered, nor did I know to advocate for anything additional. Fast forward to my due date, when our baby was born, and the next leg of our adventure began.

Perspective 2: Ash

On January 18, 2006, I was born via emergency C-section due to the umbilical cord being wrapped around my neck many times. I spent my first four days in the NICU after inhaling meconium and developing pneumonia. Little did my family know the challenges ahead that this foreshadowed. 

Once I was released from the NICU, the next leg of my adventure began. It started with a typical childhood ailment — ear infections. Not so typical was the constant nature of them. Two rounds of tubes and the removal of my adenoids did nothing to abate them.

Jennifer

Based on outward appearances, Ash was completely typical. A refusal to breastfeed, a propensity to violently throw up any amount fed to them, and the constant screaming were deemed to be “most likely normal.” We dealt the best we could. Living in Germany at the time, the option for a second opinion was nonexistent. Ash was consistently delayed in meeting milestones, but never late enough to alarm our pediatrician. At 15 months, when we were still waiting for Ash’s first word, I finally advocated for my child and was begrudgingly granted a speech therapist. 

Ash

When I was 2.5, I was hit with another ear infection, and my mother did what we always did: the doctor's office, where I received a script for antibiotics. Three days later, I could barely breathe. I was admitted to the ER and two different hospitals, and 26 days later, I survived complications of pneumonia that kept me down for nearly a month.

Jennifer

Toddlerhood was beset by constant ear infections. Ear tubes and antibiotics became routine, which is how we found ourselves in the ER, as Ash shared. We were told we’d stay a night for observation. But one night turned to two, which turned to three, etc. “Rare complications” became commonplace, and the first sentence my essentially nonverbal child uttered was, “I’m scared,” as they were wheeled into surgery. 

Ash

Other children have early memories of their first time on a bike, of carnivals and camping. One of my earliest memories is from when I was 5. I was staring out the car window as we drove to the hospital. Another is of being on an operating table for a scar revision as the table was being raised up. 

Jennifer

We returned to the U.S., where bouts of pneumonia and ear infections continued. Cystic fibrosis was extensively tested and ruled out; however, no one suggested that we have additional genetic testing. Instead, Ash underwent a number of exploratory surgeries that could not determine a cause for their issues, leading the doctors to throw up their hands and shrug. 

Ash continued to miss typical milestones, but still never by enough to raise the medical alarm. But these misses were concerning enough for me to advocate for speech, physical and occupational therapy and work hard to keep Ash where they needed to be developmentally.

Ash

I always knew that I wasn’t like other kids, and I have only recently realized that it is because I don’t perceive reality the same way they do. When I was a kid, I thought I was weird: I was the kid pulled out of class to learn to spell the word “because” and had to go to speech therapy. (But as a bonus, I would get a cool toy after every session.)

Jennifer

As is customary in military life, we moved a number of times. At a school in London, someone suggested that Ash be evaluated for autism. A developmental pediatrician we connected with during this process finally suggested we run a genetics panel. 

I will be forever grateful to that doctor. In one fell swoop, after 10 years of wondering, that doctor gave meaning and words to what we had been going through. Ash was diagnosed with Cri-du-chat (5-p) Syndrome.

We were immediately reassured by the doctor that the deletion was relatively small at 7.28Mb (from 5p15.33 to 5p15.31) and did not include the CTNND2 gene, which meant that Ash was not at an increased risk for intellectual disabilities. When we asked what else it might mean, we were greeted with a shrug. We were, in essence, shown a door to answers, but no key to unlock it. We became lock picks, safe crackers and puzzlers, uncovering that much of Ash’s history of airway, speech and motor skill issues finally made sense.

During that time, I would have liked someone to have educated us on how important “hidden” genetic issues can be in shaping lives. I would have wanted to be reassured that genetics are not a declarative sentence, but a guide. And I would have appreciated more public education about testing for genetic conditions and knowledge that advocating for testing earlier in our journey was an option. Most of all, I wish someone had told me to stay off Google!

Ash

I wish that someone had told me that it was okay to be different. I have only learned this because of my gender identity (I am nonbinary). Even though I have learned to accept this in one aspect of my life, it is not always easy to accept in other aspects of my life. I have found that online communities have helped me understand myself better. I have also come to realize that my parents are my biggest supporters and a lifeline for me.

Jennifer

Another thing I wish someone had told me is that it is okay to ask for help. Sometimes things are too difficult to work through by yourself, and a trusted confidant can do wonders for a problem that is too much to face on your own.

We worked hard, both before and after Ash’s diagnosis, to make sure they never felt different or were treated differently. And it is with great pride that I say Ash is a typical 19-year-old sophomore at the University of Rhode Island, thriving, happy and very loved.

Ash

Today, I am a sophomore in college, working towards my bachelor's degree in psychology. The way I see it, I’ve lived a relatively normal life, am lucky to be who I am, and am fortunate that my DNA split where it did. Most importantly, I’ve learned that my condition is a secondary part of my identity and is not something I talk about often because so many other things define me. 

Jennifer and Ash

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