Welcome to Morgan Yontz’s “Chronically Caring,” a new Fabry Disease News column.
The first step
I first learned of Fabry disease when my aunt tested positive after years of suffering without diagnosis. The diagnosis was bittersweet for her. She finally had validation that something major was causing her so many health issues, but she also knew she would be dealing with it for the rest of her life. It made me realize that this disorder was likely affecting me, and that I needed to get myself, as well as my children, tested.
As soon as I learned the symptoms of the disease, I knew I had it. The symptoms also became very obvious in my 7-year-old son. I would love to say that I immediately did the right thing and got tested, but it wasn’t that simple for me.
Becoming a mom was the best thing that had ever happened to me and I was a natural at it. I take great pride in my abilities to multitask, sacrifice, and provide for my children. Knowing that I may have negatively affected their lives was too much for me to handle. So I put the testing kits in the closet and continued on as if nothing had changed.
Facing the fear
I can’t say what prompted me, but one day I felt a push and sent in my test. It was only a few weeks until I got the call that the results had come back positive. The diagnosis hurt more than I thought it would. I’d lost my mother when I was 11 and never really knew why she had passed. I felt that, if this disease had been better known back then, perhaps her rapid decline in health and premature death could have been avoided.
It was challenging to tell my husband and have him grasp the reality. The severity of the disease was hard to explain, and I knew he was in denial. As I tried to remain the rock of our family, keeping it together on the surface, I was left feeling alone.
The next step was the hardest: I had to get my children tested. I didn’t want to worry them, so I didn’t tell them I was sick and that they might be, too. I told them I had a gene mutation like a superhero, and they might have superpowers, too. With much anxiety and as much personal durability as I could maintain, I sent in the samples and awaited the results.
The waiting period was almost unbearable; the moments after I learned the results were worse. Of my two children, one was clear of the disease and the other was positive for it. I was a flurry of mixed emotions, including, relief, guilt, sadness, hope, and hopelessness. At this point, I needed my partner to wake up to the reality of what was happening and to begin the conversation about how we’d move forward and tell the children.
After much consideration, I ended up telling each of my children privately, since the news would mean something different to each of them. To my daughter, I tried to explain that it was going to change all of our lives, but that if we all stuck together, we would be OK. To my son, I tried to explain what the disease was and how it was hurting his body. I think he understood as much as a 7-year-old can.
Family has always been priority No. 1 in our house, and we were going to take this journey together. Two weeks later, we all drove to the children’s hospital and went to the first doctor’s appointment together.
Note: Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Fabry Disease News or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Fabry disease.