When I found out that I was pregnant, I wasn’t yet ready to be a mother. I was 22 years old, I had just started my career and I was single. Though the odds were stacked against me, I decided that I was going to raise my baby alone and work as hard as I could to give him/her the life all children deserve.
It was during my first routine ultrasound that my pregnancy took a scary turn. My mom had joined me for the exciting day when I would find out my baby’s sex. We were both so excited when the ultrasound tech told me that I was having a girl! However, my joy was also laced with fear. The baby was measuring smaller than she should according to my due date. The tech assured me that most likely everything was okay and that my due date had simply been miscalculated.
I was referred to a perinatologist, where I had a level II ultrasound. During the ultrasound, the tech had trouble finding the baby’s kidneys, her head was measuring small and she had a mass in her tummy. This was no longer a routine pregnancy.
After we discovered the awful news, I spoke with genetic specialists and perinatologists who discussed my genetic history and explained possible syndromes that might be responsible for her health issues. They also offered me an abortion.
I didn’t even once consider aborting my baby. Despite the fact that the life I was carrying inside of me wasn’t considered “perfect” by medical standards, my baby girl was still perfect to me.
As my pregnancy progressed, so did my baby’s problems. She continued to grow at a slow pace and her head was tiny – prompting doctors to diagnose her with microcephaly, a condition that means small brain. And further testing had shown that the mass in her tummy was a bowel obstruction, which meant she’d need surgery immediately following birth.
At my 26-week check-up, my doctor told me that she thought my baby had Trisomy 18, a genetic condition that she said was incompatible with life. She wanted me to have an amniocentesis that day to determine whether she was right, because according to her, if the baby had this disorder, there would be no point in doing any lifesaving procedures (i.e., performing a cesarean). She told me that I could endanger my life if I didn’t do the test.
Sadly, against my better judgment, I buckled and allowed the doctor to perform the amnio. Two days later, the results were back, and my baby tested negative for Trisomy 18, Trisomy 13 and Down syndrome. I had risked her life for nothing.
Yet my doctors remained concerned and very negative about the outcome of my pregnancy and my baby’s life. After months of feeling stressed out and focusing only on the negatives, I decided that I was not going to allow their diagnoses and predictions to determine the ultimate outcome. I would love my baby whether she was alive for minutes, days or years. I toured the NICU, met with the surgeon who would repair her bowel and I gave my baby a name – Ruby.
At 33 weeks, I went in for my monthly ultrasound and Ruby seemed to be in distress. She wasn’t moving around as vigorously as she normally did and my doctor was concerned that my amniotic fluid was getting a little low. She decided that it was time for Ruby to be born.
Three days later, after a round of steroid shots and a long induction, Ruby Lynn came into the world screaming, pink and as beautiful as I could have imagined. The nurses wrapped her up and I was able to hold her for quite some time before they whisked her away to the NICU, where she had a slew of tests.
Most of Ruby’s health issues were not apparent until after she was born. Her head was quite small, which troubled her neurologist. An eye exam revealed that her eyes were small and formed irregularly, a condition called microphthalmia. Her kidneys were small, but working, and her bowel obstruction was repaired successfully. She spent 56 days in the NICU, learning how to eat and gaining weight. During that time, she was clinically diagnosed with a condition called, “Apple-peel” intestinal atresia, ocular anomalies, and microcephaly syndrome,” however, there was no blood test at that time.
Doctors were never optimistic about Ruby’s prognosis. One geneticist told me that she’d never walk, another told me her IQ would never top 70. I was threatened multiple times with a feeding tube if she didn’t gain weight.
But Ruby didn’t believe in following these doctor’s predictions. She sat up at eight months and crawled at 12 months. She walked a few weeks before her 3rd birthday and she started speaking full sentences at 4.
Ruby is currently in 8th grade at a typical middle school, where she spends most of her day in a special education classroom. She goes to lunch and choir with her typical peers and they do reverse mainstreaming where typical kids join the special ed classroom. Because Ruby has had such amazing and inclusive educational experiences, she has grown tremendously.
A couple of years ago, one of my online friends said she had met someone with Stromme Syndrome and the symptoms sounded exactly like Ruby’s. I connected with the woman and found out that “Apple-peel” intestinal atresia, ocular anomalies, and microcephaly syndrome” had not only gotten an easier to pronounce name over the years–Stromme Syndrome, but also that there are also several other people with the syndrome.
I thought “that’s cool, now I can just tell people that Ruby has Stromme Syndrome — it’s a lot easier to say!” But I wasn’t in any rush to get genetic testing done. Honestly, I never worried about Ruby’s diagnosis. To me, Ruby was just Ruby and a label or diagnosis didn’t change the way I treated her.
Then in 2017, we were thrust into the public spotlight when Ruby’s video went viral. Overnight, Ruby became a spokesperson for Stromme Syndrome. At that point, I felt it was important to have genetic testing done to confirm the clinical diagnosis.
Of course, the results came back positive. While the test confirmed what I already knew, it gave me something that I hadn’t expected: much needed closure.
Today, through the creation of this website and all of the advocacy we do on social media, my goal is to spread awareness of Stromme Syndrome and provide support and education to families affected by Stromme Syndrome.