I was relaxing in the bathtub the night before Thanksgiving when I discovered that my daughter, Lily, had autism. For weeks, I had been anxiously checking her medical records for updates on her evaluation. Finally, the results appeared: Level 3 Autism Spectrum Disorder.
While many parents express deep sorrow upon hearing such diagnoses, I can’t say I felt that way. I had already processed my emotions and was simply seeking answers. The official diagnosis confirmed what I had suspected all along, but it also sparked a powerful desire to understand why. The nagging thought that somehow I was to blame loomed over me.
I began ruminating over every conceivable action I had taken that could have influenced her autism. I fixated on my pregnancy and the first year of her life, obsessing over everything from the medications I took to whether she watched too much television as a baby. Was it the air quality in our home? What had I done wrong? Reflecting back, some of these thoughts were quite far-fetched; even medical professionals would likely deem them unrealistic. Yet, despite knowing the improbability, guilt consumed me.
My partner encouraged me to accept that we might never know the cause of our child’s autism until we received a referral for genetic testing, which brought a glimmer of hope.
We opted for a geneticist at a leading facility, Bright Future Children’s Hospital. True to form, the geneticist was remarkable. He examined Lily thoroughly, explaining every step of the process. After noting some subtle physical differences, he recommended a genetic and chromosomal panel. We submitted DNA samples from Lily, my partner, and myself, and then the waiting began.
Four months later, we received a call from a genetic counselor who informed us that Lily had three uncertain genetic mutations. The mutations can be categorized into three types: positive, negative, or uncertain. A positive mutation indicates a likely pathogenic change, while a negative one suggests benign variations. An uncertain mutation implies that researchers haven’t gathered enough data to determine its significance.
We had initially scheduled a follow-up appointment for five months later, but we were called in sooner. During that visit, we learned that both Lily and my partner carried a copy of the FRAS1 gene, which is associated with Fraser Syndrome, a rare condition but not one that affects them as carriers. However, if they were to have children with another carrier, there would be a 25% chance of the condition manifesting.
What surprised us most, however, was the geneticist’s revelation that Lily has a unique combination of mutations. He brought in additional specialists to discuss her case, noting that there are no documented instances of her specific mutation pattern. One of the mutations affects her PCLO gene, believed to play a role in early brain development, with one mutation inherited from each of us.
Though it was difficult to predict how these mutations would impact Lily, the geneticist assured us that a team from the university would be researching her case, potentially leading to more insights in the future.
But the most reassuring moment came when the geneticist looked me in the eyes and said, “I don’t believe you caused your daughter’s autism. We think these genetic changes are responsible.” The guilt I had been carrying evaporated, and I found myself crying tears of relief.
It has never bothered me that Lily is different—autism is an integral part of who she is, and I wouldn’t want her any other way. Discovering her genetic mutations hasn’t changed her life’s trajectory, but it has given my partner and me peace of mind.
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- What to expect from genetic counseling for autism
In summary, genetic testing not only confirmed my daughter’s diagnosis but also provided clarity that helped me move beyond the guilt. The insights gained have brought solace to my family, emphasizing that understanding genetics can offer new perspectives on autism.
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