Genetic Testing Allowed Me To Stop 'Blaming' Myself For My Daughter's Autism
I was in my bathtub the night before Thanksgiving when I found out my daughter Evelyn had autism. I had been obsessively checking her MyChart for weeks to see if her doctors had updated their clinical notes regarding her autism evaluation. Finally, there it was in black and white: Level 3 Autism Spectrum Disorder.
You hear parents talk about how upset they are when hearing their child’s diagnosis, but I cannot say that I felt any of that. Not that it would be wrong if I did, but I had moved past sadness long ago. At this point, I was ready for answers. An official diagnosis was just confirmation of what I had already expected. But what I didn’t know would come next was an intense longing to find out why. The only thing I could focus on was that it had to be my fault in some way or another.
I started thinking of all the reasonable (and completely unreasonable) things I could have done to possibly “cause” her autism. Meticulously obsessing over what I did in my pregnancy and how I raised her in her first year of life became a compulsion. Had the Zofran or Zoloft I was taking caused her autism? Was she sat in front of the TV too much as a baby? Are we living with unknown air pollutants? What did I do wrong? In hindsight, some of these thoughts were a bit of a stretch — the medical community might even argue them unrealistic. But even knowing that these things were unlikely, my thoughts still spread like wildfire. I was making myself sick with that dark, obsessive, guilty feeling.
My husband told me I needed to start accepting that we may never know why our child is autistic when hope came to us in the form of a referral for genetic testing.
We ended up choosing a geneticist at Riley Children’s Hospital in Indianapolis, a hospital ranked by the U.S. News and World Reports as one of the top children’s hospitals in the country. Not to my surprise, Evelyn’s geneticist was nothing short of astounding. He looked her over from the top of the head to the bottom of her toes, making sure to tell us everything he was doing. He made a few remarks about a couple of subtle, physical differences she carried, and recommended we move forward with a genetic and chromosomal panel. My DNA, my husband’s DNA, and Evelyn’s DNA were collected via a cheek swab, and then we began the waiting game.
Four months later, we received a call from one of the genetic counselors telling us that Evelyn had three uncertain genetic mutations. As our genetic counselor pointed out, there are three categories genetic mutations (or changes) can fall: positive, negative, or uncertain.
A positive classification means that the mutation is pathogenic or likely pathogenic, whereas a negative classification means the mutation is benign or likely benign. In an uncertain classification, it means that the variant has unknown significance. It could go either way, but what this means is that researchers aren’t far enough in their studies to know for sure.
It’s also important to note that many of us have small mutations in one way or another that might not mean anything.
We originally scheduled a follow-up appointment for five months down the road, but that day, we got a call from the office asking if we could make it in that week. Three days later, we headed back to Riley to go over our daughter’s results.
From there, we were told that Evelyn and my husband both had one copy of the FRAS1 gene, making them both a carrier of Fraser Syndrome (a rare genetic disorder that causes fusion of the eyelids, fingers, and toes, as well as genitalia and urinary tract abnormalities, and severe organ function abnormalities). Thankfully, this syndrome won’t affect either of them just because they are carriers. But, if they were to have a child with another carrier of Fraser Syndrome, there would be a 25% that that child would have the condition or a 50% chance that they would be a carrier. As it is now, our other children have a 50% chance of being carriers as well.
We would have never known this without genetic testing, but it wasn’t that particular mutation that had the geneticists so intrigued. When we were greeted by the genetic counselor, she looked at me and said, “Well, Evelyn is one of a kind. It’s really interesting because there are no reported cases of the combination/type of two of her mutations.”
By the time the doctor came to see us, he brought two other geneticists and one med student from Indiana University with him. We were told that Evelyn has changes in both copies of her PCLO gene, which is thought to be associated with early brain development. One of those mutations was passed on from me, and one from her dad — she received both of our mutations in a single gene.
He explained how it would be difficult to say how these genetic mutations would affect Evelyn having never seen her specific pattern before, but he gave us hope by introducing us to the IU med student sitting with her clipboard in the corner. He told me her name (although, I’m ashamed to say I can’t remember it) and said that she and her team would be researching these changes, and they were hopeful they would be closer to answers within the next couple of years.
But what her geneticist did for me at the end of her appointment was perhaps the most reassuring part of the entire meeting. He made a point to look me in the eye and say, “I do not believe you did anything to cause your daughter’s autism. We believe that her autism is due to these genetic changes.”
The weight of all the blame I’d been carrying was lifted from my shoulders, and I sobbed. Right there in that office, in front of all those strangers, I ugly cried. It has never mattered to me that Evelyn is different — autism is a part of who she is and I couldn’t imagine her being anyone else. Finding out that she has a few genetic mutations isn’t going to change the course of her life, but it has brought me and my husband peace of mind for ours.
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