I was diagnosed with Noonan syndrome (NS) shortly after birth. For my parents, this was an incredibly challenging time, particularly as I was their first daughter, and their plans for the future quickly changed. At the time, specialists informed my parents that there was an 80% chance any future children would be affected by the same condition. This devastating news led them to decide against having more children. However, I later learned that the actual risk was closer to 50% — almost like a game of chance.
Growing up with Noonan syndrome has been a journey filled with uncertainty. At the time of my diagnosis, NS was still relatively unknown, and even now, it remains a condition few are familiar with. Every time I meet a new doctor or medical team; I often find that they have little to no knowledge about NS. This lack of awareness is something I continue to face regularly.
Noonan syndrome comes with a range of health challenges. Recently, I was informed that I have almost every medical issue associated with NS, except for the physical disfigurement that can accompany the condition. My partner and I have had many discussions about the possibility of having children of our own. We’ve spoken with specialists, who informed us that since Noonan’s is a genetic condition, there is a 50/50 chance our child could inherit the same diagnosis.
In addition to NS, I recently underwent genetic testing and was diagnosed with a rare mutation of the RIT1 gene, which accounts for only 5% of the NS population. This has added another layer to my understanding of the condition and its impact on my life.
Living with Noonan syndrome has never been easy. As you’ll read in my future blogs, my journey has included struggles with Congenital Heart Disease & Defects (CHD), pectus excavatum, lymphatic issues, Bell’s palsy, developmental delays, and more. Despite these challenges, I’ve learned to adapt and keep moving forward, determined to share my experiences with others living with the condition.
While my life has been far from ordinary, I’m committed to raising awareness about Noonan syndrome, advocating for better understanding, and providing support to those who share this journey. Thank you for reading.
