When I was eight months old, I had open heart surgery to repair my pulmonary valve that was only 2mm wide open. As a result, sometimes I have shortness of breath. I could possibly have another surgery in the future to replace the valve. Other than that I have no other medical conditions.
Thirty years later my son Nicholas was diagnosed with autism and a rare genetic mutation within a week of each other just after he turned 3 years old. This is something he inherited from me, which also caused my heart condition.
After my daughter Grace was born last year and diagnosed with silent aspiration like Nicholas, we sought out some answers. Because of Nicholas’s facial characteristics, the geneticist thought they’d start with metabolics. My husband Steve, Nicholas, and I were tested on a metabolics genetics panel of 3,000 genes. We received results a few months later indicating that Nicholas has a gene mutation called ZNF462. It’s so rare that it doesn’t even have a name. Only a few 100 people have it. It was passed down to him from me. Because of my heart condition I had 30 years ago. My son Daniel and Grace were tested later; Grace tested positive and Daniel was negative.
I have the gene mutation as well, just a different variant and not as complicated of medical conditions like Nicholas. This is where his autism comes from. Not everyone with the gene has Autism, but some do. So in Nicholas’s case, his autism is genetic. This is something that happened at conception and there was no way of us knowing this would happen or that I had it to begin with.
We learned that there’s a 50% chance our future children will have the gene and there’s a 50% chance Nicholas’s children would have the gene as well. Nicholas and Grace have very similar facial features, which is what the mutation is. The droopy eye, the big forehead, the triangular-shaped top of the head. Right now, Grace is doing well with her milestones, however she could possibly have Autism and we just don’t know it yet. As of now, she doesn’t have any major sensory processing either. Her future children will also have a 50% chance of inheriting the gene.
We are almost positive that this wasn’t passed down from my parents. Sometimes it’s passed down, sometimes it’s spontaneous. We believe mine is spontaneous, however we won’t know 100% unless there’s further testing, which we don’t believe we need to do at this time.
At first, this was very hard for me to process. I felt like everything was my fault and I made them the way they are. I was warned by a few of Nicholas’s doctors that his condition was probably from me and my heart. But I didn’t want to believe them. I didn’t understand how that was possible especially since we have different symptoms.
After some time, I realized this is how they’re meant to be. This is the way God made each one of us. This is their life. It’s different, but that doesn’t mean it’s wrong or makes them any less of a human. The love and support we’ve received these past few years has been amazing. We couldn’t ask for a better support system.
I get asked all the time if we plan on having more children. I always respond with “I don’t know.” Because I really don’t. I have a true desire in my heart to have more kids, however I’m still anticipating more diagnoses for our children. Right now, we have three beautiful children and we’re very busy with them. We have no idea what God has in store for us in the future.
All in all, nothing changes. We keep doing therapy and continue doing what we’re doing. The important thing is that our kids are genuinely happy. Really happy. And they are so incredibly loved and have so much support around them. We have given them the best gift possible: Life. And that’s all that matters.
Kate lives in Colorado with her husband and three children. You can read her writing at her blog This Special Journey where this post originally appeared.