A special blog contribution from Roya Malaekeh.
People often ask what it was like getting a diagnosis, especially since we had endured a year without one. When I got that phone call from the geneticist, it felt like a boulder was lifted off my chest - but I felt no relief. Still pain, still confusion, but it definitely felt lighter.
“We found a marker on your whole exome sequencing results for something called Schaaf-Yang Syndrome, a Prader-Willi-like disorder.”
I went into labor after an uneventful pregnancy, and I remember being rolled into the OR for my scheduled c-section, feeling so excited to finally meet my daughter. When the doctors pulled out my baby, the rustling of the room stopped and everyone hushed to a whisper. I remember how uncomfortably quiet everyone was, but no one said anything to me about their concerns.
The awkward silence continued until an emergency landed Shadi in the ICU the following day. Even more silence until the director of pediatrics sat us down and floated stinging phrases like “failure to thrive,” “intellectual disability,” and “rare genetic disorder,” even though all standard genetic panel tests had come back negative.
Then followed a year of extensive tests, multiple therapies, countless specialist appointments, and far too many sleepless nights. We were desperately scrambling to find an answer, while at the same time learning how to care for an infant with high medical needs and severe developmental delay. If anything in our lives would test the strength of our family, it was our year of being “in limbo.”
A couple of weeks after her first birthday, we got a call that we weren’t expecting for a while. The geneticists had told us that whole exome sequencing is our last resort for genetic testing, and not to get our hopes too high. But when I heard her say “we have a diagnosis,” I felt every emotion all at once.
We met with the geneticists as soon as we could to understand better, but they explained that they knew virtually nothing about Schaaf-Yang Syndrome because it had only been discovered three years prior, and there were only two published medical articles about it. But we had an answer - and that meant we could learn more.
I don’t know how things lined up for us the way they did back then, because after furiously Googling everything I could about Schaaf-Yang Syndrome, I discovered that there were other SYS families, and they were about to meet for the first time at the FPWR Family Conference in Indianapolis in a few weeks.
So, we hopped on a plane with our sweet little girl, and not only got to meet some incredible families in our same situation, but we met Dr. Christian Schaaf himself, who has been so gracious in devoting his time in helping our community.
I will never forget how I felt leaving that first conference. I was definitely still scared and overwhelmed at the unknown ahead of us, but I also felt confident for the future of my daughter. I have personally attended every conference since then, because being around other parents, caregivers, and medical researchers that have nothing but the best interest in bettering the lives of our kids makes me feel incredibly strong and powerful. I know I am just one parent, and a very busy parent at that, but I know I can still make a difference by being a part of the community.
Admittedly, it took me a long time (literally years) to be comfortable enough to share our story publicly, but I know that in doing so, it opens the door to so many opportunities to make a change.
During the pandemic, I ran my first online Facebook fundraiser with minimal expectations, but I was absolutely blown away by the amount of people who truly want to help. More recently, I set up a yard sale fundraiser in our own driveway, and again, I was in awe of our local community and how they turned up for one of their own.
Since then, so many people I hadn’t spoken to in years reached out about their personal connection to the disability community, and how glad they were able to make a difference in Shadi’s life.
Shadi turned seven years old recently, and she is just a pure light. Honestly, I can’t imagine what our lives would look like without her exactly as she is. She loves to be around her two brothers, she dislikes loud sounds, her favorite animal is elephants and her favorite color is pink. She is a sweet, gentle girl with a sassy side to her personality that we all enjoy.
I am so proud to be her mom, and as difficult as the journey has been so far, she has taught me to find a balance in the duality of grief and joy in raising a disabled child. It’s a beautiful gift I never expected, but it’s what keeps us going and what motivates us to continue fighting for a better future for all kids with SYS and PWS.