It was brought to my attention recently that new readers might be interested to know how our family got to the point of Riley’s Noonan Syndrome diagnosis, and the road we’ve been on so far. This story is at the heart of almost everything that we do now, so it’s an important one to know. I could go on and on about the roller-coaster we’ve been on since day one, but I’m betting that you lovely people have much more important adult stuff to do today, right? Right.
On April 27th, 2017, something abnormal came back from our 32 week ultrasound. This day will forever be ingrained in my memory, because it is the day that everything about my pregnancy, and my family’s future, changed. After my doctor sent me to a specialty imaging group, that group sent me to a pediatric cardiologist. By 36 weeks, Riley was diagnosed with hypertrophic cardiomyopathy (an enlargement of the heart that hinders effective blood-flow). This condition is relatively rare in kids, and even fewer cases are diagnosed prenatally. Of those few cases diagnosed prenatally, most don’t make it full term. (This is information straight from Riley’s first cardiologist, so please forgive me for not citing specific data.)
“By 36 weeks, Riley was diagnosed with hypertrophic cardiomyopathy.”
We decided to induce on the summer solstice (June 21, 2017, the longest day of the year), at thirty-eight weeks. There was an extensive list of medical professionals in the room, and more on standby. I didn’t even know if I would get the chance to hold Riley before she was whisked away, but luckily, I did. It was only for a moment before she was carted off, followed closely by her Daddy, and it felt like my soul broke into a million pieces. There were so many uncertainties, and I was terrified that I might not ever leave that hospital with my daughter. I would never wish that level of pain, guilt, and fear on my worst enemy.
“There were so many uncertainties, and I was terrified that I might not ever leave that hospital with my daughter.”
A week passed in the NICU, where we had an amazing support system of nurses and social workers. With their help, and the Ronald McDonald House, we were able to stay with Riley in the hospital the entire time. My recovery felt like a lonely little hell hole, but I tried my best to shut everything off to be there for my baby. (Side note: My husband, Ross, was AMAZING the entire time we were there. I never could have done any of that without him, and I hope I get the chance to brag on him more later.)
After a lot of testing and monitoring, Riley’s heart condition was deemed stable enough for her to go home, with medication. We were told that the first year would be the most intense and concerning, but I don’t think we were fully prepared for what all that meant. The new Barber Bear Family went to at LEAST one appointment a week for the first two months of Riley’s life.
“We were told that the first year would be the most intense and concerning, but I don’t think we were fully prepared for what all that meant.”
September 2017 came, and Riley’s heart was getting worse. So, we met with the Heart Failure Clinic at Children’s Health in Dallas, where we endured a very long and exhausting transplant evaluation. It was determined that Riley’s heart condition could be managed with medication for the time being, but she would eventually need a heart transplant. During this time, Riley’s moderate-to-severe hearing loss was also confirmed. She received her first set of hearing aids at five months of age. At that point, we were up to two to three appointments every week.
We spent the next few months going back and forth to Dallas, the Dell Children’s Medical Center campus, a specialty pediatrics office in Cedar Park, and Riley’s pediatrician in Round Rock. There were also regular at-home visits with E.C.I. (Early Childhood Intervention) services. It felt like a constant stream of appointments, and it didn’t really feel like we were accomplishing much. I was extremely depressed, and lonely. No matter how much Ross tried to help me, I just couldn’t put myself back together.
“I was extremely depressed, and lonely. No matter how much Ross tried to help me, I just couldn’t put myself back together.”
In August 2018, our local geneticist was finally able to diagnose Riley with Noonan Syndrome. (PTPN11 gene, for those who are curious.) NS is a rare disorder that can cause “unusual” facial features, like the abnormally bright blue coloring of Riley’s eyes (though there are other manifestations). NS can also cause short stature that may require growth hormones, heart defects from birth (like hypertrophic cardiomyopathy), developmental delays, and vision impairment. There are many other possible characteristics, depending on genes and variants that I don’t fully understand. In Riley’s case, NS was not inherited, nor could it have been created by any outside factors. There was nothing that we did that caused her this pain. I can’t even begin to quantify the weight that lifted from my spirit when we heard that. It didn’t make our lives any easier, but I had no reason to feel guilty anymore, and that was enough to wake me up to the world again.
“In August 2018, our local geneticist was finally able to diagnose Riley with Noonan Syndrome.”
A few months after the Noonan Syndrome diagnosis, our lives haven’t slowed down any. We’ve even added ophthalmology (Riley wears glasses now), endocrinology, hematology, speech therapy, and occupational therapy to our appointments lists. We’re also shifting Riley’s audiology care to Dallas temporarily, so that our heart transplant team can be involved in Riley’s cochlear implant surgery. (In another post, I will tell you more about how and why we decided on cochlear implants). She will be receiving implants for both ears, and even though we could do the CI surgery locally, we love our transplant team, and really want to keep them involved with high-risk procedures. It’s a continuous work-in-progress.
As for me, I’m finally starting to catch glimpses of myself again. I managed to reach out and find a new friend in my community, and I came up with this blog to give me a reason to get out more. I can’t wait to share all of our adventures with you! There are parents walking similar paths to mine all over the world, but it can be so hard for us to find each other in the madness that is raising a special needs child. I welcome anyone who wants to join in our story, and I would love to hear yours! Tag me on Twitter, Facebook, Instagram, or Pinterest. You can also leave a comment via the form on this page, and sign up for our e-mail list to get the latest post updates. #ourNSstory #noonansyndromeawareness #ourmedicaljourney