We (Saoirse’s parents) noticed when Saoirse was a little baby that she had some tiny light brown spots around her body. We came to learn from her pediatrician that these were called café-au-lait spots, and were one of many possible signs of neurofibromatosis. We were told that we should monitor any new signs that popped up, along with her pediatrician noting any changes over her future well child checkups. By six months age, Saoirse’s café-au-lait spots had increased in size and number, and we were referred to the genetics team at Johns Hopkins Hospital. After a genetics test, Saoirse was diagnosed with NF1.
Saoirse is only two years old and does not currently show any signs beyond her cafe au lait spots, so we continue monitoring as she grows up. She sees her NF specialist once per year and her ophthalmologist once per year, so they can look for any changes. At just two years old, Saoirse has already shown us all that she is a strong, fierce little lady, and will grow up to become a woman who can take on anything. Her parents, big brother, and grandparents will always stand by her side to support her through anything and everything. As her parents, we continually
educate ourselves on neurofibromatosis and how we can best support our little girl as she grows up, and remain vigilant and prepared for potential tumors and other health risks, as well as adapt to any changes we might need to make to support Saoirse’s educational goals and dreams.
The day that our family officially received the NF1 diagnosis was a day we will never forget. It’s news that no parent every wants to hear about their baby. Discussing the results and what they meant over the phone with the genetic counselor felt challenging and overwhelming. But as soon as the call was done and I set the phone down, I turned to look at my beautiful, brilliant daughter who was happily munching away and messily smashing her finger foods at lunch. She smiled and laughed and I smiled and laughed with her. I realized in that moment that no matter what happens, NF1 can never take away Saoirse’s inner light. Saoirse holds a spark that brings her beauty, strength, and courage. She lights up the room when she walks in and brings joy to everyone who meets her. NF1 may present a challenge to her as she grows up, but it cannot define her and who she is. She is so much more than her diagnosis.
Saoirse is an energetic, kind, and clever little girl enjoying her toddler years. She loves to play with her big brother Bjorn, especially playing dinosaurs and cars with him. At preschool, Saoirse enjoys playing with her friends, especially pretend time “cooking noodles” in the play kitchen. She enjoys singing and dancing, drawing and coloring, and climbing on jungle gyms and balancing along balance beams. Saoirse is a skilled swimmer and loves trips to the Y for family swim time. She loves cats, especially her orange tabby cat named Beryl. She can count to ten and knows some very funny knock knock jokes!
Favorite Song
Baby Beluga
Dream Superpower
Swim like a mermaid
Favorite Food
Ice cream
Fun Fact
I’m a ship’s captain (on my boat scooter) and love to sail with my crew of stuffed kitties!
