By Jessica Helton
When I was 20 weeks pregnant, my doctor recommended an amniocentesis so we could find out what was causing concerns during my pregnancy. They took amniotic fluid for testing, and that’s when my husband and I learned our daughter had a rare genetic disorder called Fanconi anemia (FA). We found out that we were both carriers, something we had never known.
We didn’t know what to think.
As my pregnancy continued, we learned more about FA from our doctors, but we tried not to spend too much time looking online. We wanted to take things one step at a time and discover what Luna’s journey would look like.
Luna was born on May 15, 2025, at 37 weeks, weighing just 4 pounds. At only 3 days old, she had surgery, and we spent a month and a half in the NICU.
During that time, I felt like we were all learning together. I cried all the time because I was so upset, but at the same time I felt so blessed. I blamed myself and felt like I was on a roller coaster. But as I watched how strong my beautiful baby girl was, she helped me become stronger too. She gave me the courage to learn, understand, and do everything we needed to do for her.
Learning From Luna Every Day
Luna is now 1 year old, and she has taught my husband and me that the sky is the limit.
She has been such a light in our lives. She is happy, beautiful, silly, and loves to sing and play.
We’ve learned that Luna has no radial bone in either arm, no thumbs, a horseshoe-shaped kidney, a spiked spleen, and a malformed left ear with no ear canal. She sees many different specialists, and now visits hematology twice a year while we do everything we can to keep her healthy.
It isn’t always easy, but Luna makes it so much easier to keep going, keep learning, and live life to the fullest.
Taking One Appointment at a Time
Honestly, every doctor’s appointment has been a defining moment in our journey.
In addition to hematology, Luna sees orthopedic doctors, eye doctors, hormone doctors, kidney doctors, an ear doctor, a nutrition doctor, and more. Every time we went to an appointment, we were so nervous about the results or what we might learn next.
Eventually, we realized we needed to be strong for her and focus on every positive thought we could.
Then, at one of her liver appointments, we got good news. They told us she no longer needed to be seen because her liver looked fine. They may check on it again someday, but for now everything looked good.
That reminded us that not every appointment would bring bad news. Some would bring hope. And no matter what comes, we’ll face it together as a family.
You’re Not Alone
Before Luna, we had never even heard of Fanconi anemia.
I think many people hear the word “anemia” and assume that’s all it is because FA is so rare. There is so much more that comes with it and so much to worry about.
I also want other families to know that they are not alone.
At our children’s hospital, we met a 19-year-old young woman with a different type of anemia who had a few similar physical differences, including her thumbs. Talking with her for just a few minutes helped me more than she’ll ever know. Sometimes knowing someone else understands makes all the difference.
So Much More Than FA
Luna is so much more than her diagnosis.
She’s a happy 1-year-old who loves movies, music, coloring, playing, reading, and learning new things. She has so much positive energy. She’s smart as could be and capable of anything.
She teaches us every single day how blessed we are to have her.
Looking Ahead With Hope
I hope we’ll find a cure or discover ways to make life better for these beautiful FA fighters. They are so strong and go through so much. They deserve every opportunity, and I hope they know how hard everyone is working to make a difference and how deeply they are loved.
To the donors who make research possible:
THANK YOU! Without you, we wouldn’t be able to keep searching for cures or help the FA community come as far as it has. Your support gives families like mine hope for the future.
