Genetic testing made me realize I was not to blame for my child’s autism
I was in my tub the night before Thanksgiving when I found out my daughter Evelyn had autism. I had been obsessively checking his MyChart for weeks to see if his doctors had updated their clinical notes regarding his autism assessment. Finally, it was in black and white: level 3 autism spectrum disorder.
You hear parents say how upset they are to hear their child’s diagnosis, but I can’t say I felt it. Not that it would be wrong if I did, but I had long moved past the sadness. At this point, I was ready to receive answers. An official diagnosis was just confirmation of what I was already expecting. But what I didn’t know would come next was an intense desire to discover Why. The only thing I could focus on was that it had to be my fault somehow.
I started to think about all the reasonable (and completely unreasonable) things I could have done to possibly “cause” her autism. Being meticulously obsessed with what I did during my pregnancy and how I raised her in her first year of life became a compulsion. Did the Zofran or Zoloft I was taking cause his autism? Did she sit too much in front of the TV when she was a baby? Are we living with unknown air pollutants? What did I do wrong? In hindsight, some of these thoughts were a bit exaggerated – the medical community might even support them as unrealistic. But even knowing that these things were unlikely, my thoughts still spread like wildfire. I made myself sick with this dark, obsessive, guilty feeling.
My husband told me that I had to start accepting that we might never know why our child has autism 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 US News and World Reports as one of the best children’s hospitals in the country. Not to my surprise, Evelyn’s geneticist was just stunning. He looked at her from the top of his head to the bottom of his toes, making sure to tell us everything he was doing. He made some remarks about some subtle physical differences that she carried and recommended that we go ahead with a genetic and chromosome panel. My DNA, my husband’s DNA, and Evelyn’s DNA were collected via a cheek swab, and then we started the waiting game.
Four months later, we got 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 of genetic mutations (or changes) that can fall: positive, negative or uncertain.
A positive classification means that the mutation is pathogenic or probably pathogenic, while a negative classification means that the mutation is benign or probably benign. In an uncertain classification, this means that the variant has an unknown significance. It could go either way, but it means that researchers are not far enough along 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 had originally scheduled a follow-up appointment for five months, but that day we got a call from the office asking if we could do it that week. Three days later, we returned to Riley to review our daughter’s results.
From there, we were told that Evelyn and my husband both have a copy of the FRAS1 gene, which makes them both carriers of Fraser Syndrome (a rare genetic disorder that causes the eyelids, fingers and toes to fuse together, as well as abnormalities of the genitals and urinary tract and severe abnormalities in organ function). Fortunately, this syndrome will not affect any 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% chance that that child would have the disease or a 50% chance that they would be a carrier. As it is, our other children also have a 50% chance of being carriers.
We would never have known this without genetic testing, but it was not this particular mutation that had intrigued geneticists so much. When we were greeted by the genetic counselor she looked at me and said, “Well, Evelyn is one of a kind. This is really interesting because there is no reported case of a combination / type of two of its mutations.
By the time the doctor came to see us, he had brought two other geneticists and a medical student from Indiana University with him. We have been told that Evelyn has changes in both copies of her PCLO gene, which is believed to be associated with early brain development. One of these mutations was passed to me and the other from her father – she received both of our mutations in one gene.
He explained how difficult it would be 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 UI medical student sitting with his notepad in the corner. He told me his name (although I’m ashamed to say I don’t remember) and said that she and her team would research these changes and hope they would be more. close to the answers in the next two years. .
But what her geneticist did for me at the end of her date was perhaps the most reassuring part of the whole meeting. He insisted on looking me in the eye and saying, “I don’t think you did anything to cause your daughter’s autism. We believe his autism is due to these genetic changes.
The weight of all the blame I was carrying lifted off my shoulders and I sobbed. There, in this office, in front of all these strangers, I cried ugly. It never mattered to me that Evelyn was any different – autism is 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 given me and my husband peace of mind for our own.