By Kelly McKenna

My name is Kelly McKenna, and I’m a single mom to two amazing kids. One of them is an eight-year-old boy who has Fanconi anemia (FA). Logan’s medical journey started during my pregnancy at the 20-week anatomy ultrasound. They were unable to locate his kidney at the time, though at birth, it was found to be misplaced in his pelvis. He had a variety of other things going on as well—the pelvic kidney, hypospadias, a sacral dimple, café-au-lait spots, short stature, feeding problems, and growth and speech delays, just to name a few. He was always extremely low on his growth charts, and I was repeatedly told by doctors that he was otherwise healthy, that his growth charts were following the curve (albeit a low percentile), and that some of these things he would likely outgrow with time, while others can just happen.

I couldn’t shake the feeling that all these various medical issues had to be somehow related, and I would say that is where my advocacy journey began—years before I joined FCF’s Patient Advocacy Program, years before it even started. My personal advocacy journey began as a mom just trying to find answers about her son. People talk about a mother’s intuition, and I don’t think I fully understood it until I experienced it myself, but I just knew that something was causing all of this. I pressed and pressed for referrals, trying to find someone who could explain everything going on with Logan. And after being seen in ten separate specialties by thirteen doctors across countless appointments, a seizure was what finally landed Logan with the test that would diagnose him with FA. Whole exome sequencing suggested he had FANCA, which was later confirmed with chromosome breakage tests.

We are very fortunate so far, and I do not take that for granted. Logan’s counts have been stable, his bone marrow biopsies clean, and to most people, he just seems like a normal eight-year-old boy. He plays basketball, has friends, and loves Pokémon and Minecraft. But underneath that lies his FA and a constant state of worry about what comes next. To me, that’s the hardest part of the journey right now—knowing what’s potentially to come and, aside from taking proper precautions and following up with his specialists, knowing that there’s nothing I can do to stop it. As a parent, you just want the best possible life for your children—to care for them and watch them grow into happy, healthy adults. Knowing what’s looming with FA and knowing there’s nothing you can do to prevent it can feel crushing.

I’ve been advocating for Logan his whole life, not just through his FA journey but through an autism diagnosis as well. And through all of this, I’ve learned that if you want people to listen, if you want to find answers, if you want to bring awareness to a disease that most people have never heard of, you must speak up and be persistent. The FCF Patient Advocacy Program has allowed me to do that on a much larger platform than I could on my own. I’ve had the opportunity to work with a pharmaceutical company on an FA-centered research study and weigh in with a caregiver’s perspective on life with FA. I’ve had the chance to make my voice heard and share our story—to tell other families, especially single parents, that they aren’t alone in this and to always trust their gut and push for answers when it comes to their child. We were lucky enough to attend the FAmily Retreat last summer, and seeing all the other families and children affected just fueled my passion as an advocate even more.

Life with a loved one who has FA can often feel like you’re just waiting for the other shoe to drop. But it can also be so much more. It’s learning to live in the moment and not take any time for granted. To take full advantage of your health. It’s full of love and friendships and discovering that you’re part of a much larger FAmily that all wants the same thing—to find better treatments and ultimately a cure for this disease. The FCF Patient Advocacy Program has given me the chance to become a bigger part of this community and step up to represent it to others. My biggest hope is that I can play a small part in advancing awareness and getting us one step closer to a cure for Logan and all of those with FA.