Genetic Testing Helped Me Let Go of Guilt Over My Daughter’s Autism

The night before Thanksgiving, I was in my bathtub when I received the news that my daughter, Clara, had been diagnosed with autism. For weeks, I had been obsessively checking her MyChart for updates regarding her autism evaluation, and finally, it was confirmed: Level 3 Autism Spectrum Disorder.

While many parents express sadness upon hearing their child’s diagnosis, I was past that stage. I craved clarity; the diagnosis was simply a confirmation of what I had suspected. What struck me next was a powerful urge to discover the reasons behind her autism. My mind raced with thoughts, and I began to blame myself.

I started to obsess over every possible factor that might have contributed to her condition. Did the medication I took during pregnancy play a role? Did I let her watch too much TV as a baby? Were there environmental toxins we were unaware of? My mind spiraled with guilt, and despite knowing these thoughts were unfounded, they overwhelmed me.

My partner suggested that we might never know the cause of Clara’s autism, but then we received a glimmer of hope in the form of a referral for genetic testing.

We chose a geneticist at a prestigious children’s hospital, which is recognized among the best in the country. To my relief, Clara’s geneticist was incredible, thoroughly examining her and explaining each step along the way. He noted some subtle physical characteristics and recommended a genetic and chromosomal panel. DNA samples from Clara, my partner, and myself were collected via cheek swab, and soon we were left waiting for results.

Four months later, a genetic counselor called to inform us that Clara had three uncertain genetic mutations. We learned that genetic mutations fall into three categories: positive, negative, or uncertain. A positive classification indicates a pathogenic mutation, while a negative one is benign. Uncertain mutations, however, have unknown significance, leaving researchers unable to draw definitive conclusions.

Initially, we scheduled a follow-up appointment for five months later, but shortly after, we received a call asking us to come in sooner. We returned to the hospital just three days later to discuss Clara’s results.

The geneticist revealed that both Clara and my partner were carriers of the FRAS1 gene, which is linked to Fraser Syndrome, a rare condition that can cause various physical abnormalities. Thankfully, being a carrier doesn’t affect them, but it does mean that if they have children with another carrier, there’s a 25% chance their child could be affected.

However, the most intriguing aspect for the geneticists was Clara’s unique combination of mutations. As the genetic counselor noted, “Clara is one of a kind.” We learned that she had changes in both copies of the PCLO gene, which is believed to play a role in early brain development. One mutation came from me, and the other from her father, creating a rare genetic pattern.

While the geneticists couldn’t predict how these mutations would influence Clara, they introduced us to a medical student who would be researching these changes. They were hopeful for answers in the coming years.

What truly lifted a heavy burden from my shoulders was when Clara’s geneticist looked me in the eye and said, “I do not believe you did anything to cause your daughter’s autism. We think her autism is linked to these genetic changes.” In that moment, I broke down in tears, overwhelmed with relief.

It has never concerned me that Clara is different; her autism is part of who she is, and I wouldn’t want her to be anyone else. Discovering her genetic mutations won’t alter her life’s path, but it has certainly brought peace of mind to me and my partner.

For more insights on the intersection of genetics and autism, check out this related blog post. Also, if you’re considering home insemination, resources like this home insemination kit offer valuable information on the subject, similar to what you can find at this resource on IUI.

Summary

The author shares her journey of discovering her daughter Clara’s autism diagnosis and the subsequent genetic testing that helped alleviate her feelings of guilt. Through the testing process, she learned about specific genetic mutations and received reassurance from medical professionals that her actions did not contribute to her daughter’s condition.

Keyphrase: autism genetic testing

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