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Our Diagnosis Doesn't Define Us

Our Diagnosis Doesn't Define Us

I was born with a rare genetic condition called Oto-Palatal-Digital Syndrome, although I never knew there was a name for it until my daughter was born in 2006 and diagnosed by a genetics team.

My mother was 41 years old when she gave birth to me. Back in 1972, this was considered ancient to be having a baby. I had a cleft palate, a small mandible, and two fingers (the middle and ring) on each hand that were fused together. The doctor, who had never seen a case like this, told my mother I most likely wouldn’t live more than 24 hours.

After I baffled everyone by surviving, the same doctor gently suggested to my mother that there were options for children like me and that she should look into them, as raising a child with issues like mine would surely be a burden.

My mother firmly told the doctor that she was taking her baby home.

My issues were attributed to a myriad of things from “old egg syndrome” to the fact that my mom smoked, although to her credit I believe she quit while she was pregnant.

As I grew older, I became more curious about my condition. I was told by my pediatrician that it was a syndrome of some sort, but because I had a mix of characteristics that were seen in a few other syndromes, it was hard to narrow it down. It could also be a fluke, I was told; a random mutation of a gene.

When my husband and I decided to start our family, we went for a genetic counseling appointment. I had flashbacks to high school biology class as the geneticist made a Punnett Square, and both of our medical histories were documented at length. It was determined that, although there was no definitive name for what I had, if I did indeed have kids, each child would have a 50/50 chance of inheriting my condition.

In 2004 I gave birth to our first child, a healthy baby boy. Almost two years later, I found out I was pregnant again. At my 20 weeks ultrasound. I found out that we were having a little girl, but the joy was dampened a little when the scan showed a small jaw, much like mine had been.

Although I had been mentally preparing for this since our genetic counseling appointment, it still knocked me for a loop, and I had a good cry in the doctor’s office.

Lilly arrived a day past her due date and was airlifted to a larger hospital two hours away from home due to her complications.

She had surgery on her jaw at five days old, and less than a week later I heard the words “Oto-Palatal-Digital Syndrome” or OPD, for the first time. It was bittersweet, as no mother wants her child to have a genetic condition, but now I had something I could work with. A diagnosis — something I could type into Google and research the heck out of. Or so I thought.

One of the first things I found out was that OPD is extremely rare. When Lilly was born in 2006, there were less than 60,000 known cases worldwide. The numbers continue to grow, as more research is done, but I still have yet to meet anyone in person outside my family with OPD. I have found stories of individuals on the internet with it, but they are few and far between.

We have learned that OPD is a spectrum disorder.

The three commonalities are a cleft palate, hearing loss, and webbing of the fingers and/or toes. Beyond that, an individual can have more severe craniofacial issues, intellectual disability, or heart problems; each case is unique.

My daughter had multiple feeding issues and severe gastric reflux that resulted in a feeding tube placement. She was also diagnosed with an intellectual disability, as well as autism, at the age of two and a half.

Our youngest son, who was born in 2011, also has OPD and does not have intellectual disabilities, but he had a tracheostomy tube placed at two days old because his jaw was extremely small, even smaller than mine or my daughter’s had been. His airway was compromised, and jaw surgery for him was not an option at the time.

At four days old he went into acute respiratory failure. He was retaining carbon dioxide in his lungs and had to be placed on a heart/ lung bypass machine called ECMO. He was later diagnosed with chronic lung disease, which is unrelated to his OPD.

After I learned of my daughter's diagnosis, and therefore my own, I realized how NOT having a specific diagnosis when I was younger may have had its advantages.

I was treated like any other child when I was growing up.

I was aware from an early age that I looked different than other kids, with my smaller jaw, and unlike most of my classmates, I was pulled out a couple of times a week for speech therapy. Beyond that, I lived a fairly normal childhood. I strive to do the same for our children. Our diagnosis will always be part of who we are, but we will never let it define us.

Firefly Blog

Real life stories, issues and experiences of day to day life by special needs parents and
healthcare professionals.

Jennifer Arnold

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I’m passionate about raising awareness about disability issues through education and outreach. When I’m not wearing my writer hat, I’m usually trying to control the beautiful chaos in my home.

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