It was the night before Thanksgiving when I discovered my daughter Mia was diagnosed with autism. I had been anxiously tracking her medical updates for weeks, and finally, I saw it: Level 3 Autism Spectrum Disorder. Unlike many parents, I didn’t feel the immediate wave of sorrow upon hearing the news. By this point, I had already accepted the reality of her diagnosis and was eager to find answers. However, what followed was an overwhelming urge to understand why this was happening, and I found myself spiraling into self-blame.
I began to second-guess every choice I made during my pregnancy and early parenting. Had the medications I took caused her autism? Had I allowed her too much screen time as an infant? Were there hidden environmental toxins affecting her? My mind raced with these thoughts, and deep down, I felt an insatiable guilt that made me physically unwell.
My husband gently urged me to come to terms with the possibility that we might never know the cause of Mia’s autism. But then, hope arrived in the form of a referral for genetic testing.
We chose a geneticist at Riley Children’s Hospital in Indianapolis, a facility renowned for its pediatric care. The geneticist was incredibly thorough, examining Mia closely and explaining each step of the process. After collecting DNA samples from all three of us, we entered the anxious period of waiting for results.
Four months later, we learned from a genetic counselor that Mia had three uncertain genetic mutations. These mutations fell into three categories: positive, negative, or uncertain. Positive means the mutation is likely harmful, negative indicates it’s benign, and uncertain means researchers do not yet have enough information to classify it definitively.
Initially, we had scheduled a follow-up months later, but we received a call to come in sooner. During that visit, we discovered that Mia and my partner both carried a copy of the FRAS1 gene, linked to Fraser Syndrome, a rare genetic condition. Thankfully, being carriers doesn’t affect them, but it does pose a 25% risk if they have children with another carrier.
However, what truly captivated the geneticists was Mia’s unique combination of mutations. The genetic counselor informed us that no other documented cases matched her specific mutations. It turned out she had variations in both copies of the PCLO gene, which is believed to play a role in brain development. One mutation came from me, and the other from her father.
The geneticist explained that while it’s challenging to predict how these mutations will affect Mia, he introduced us to a medical student researching her specific genetic pattern. They were hopeful for more definitive answers in the coming years.
In a moment of profound relief, the geneticist looked me in the eye and assured me, “I don’t believe you did anything to cause your daughter’s autism. We think her condition is due to these genetic changes.”
With that, all the guilt I had been carrying lifted, and I found myself crying tears of relief. In that office, surrounded by strangers, I allowed myself to feel the weight of my emotions. It has never mattered to me that Mia is different; her autism is part of who she is, and I wouldn’t change her for anything. Learning about her genetic mutations hasn’t altered her path in life, but it has granted my partner and me a sense of peace.
For more insights into the journey of understanding and acceptance, you can check out this post on our other blog. If you are exploring pregnancy options, this is a fantastic resource. Additionally, for guidance on pregnancy, visit this, which is an excellent resource for pregnancy and home insemination.
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Summary:
Discovering my daughter Mia’s autism diagnosis led me down a path of self-blame until genetic testing provided clarity and relief. The results showed uncertain genetic mutations, including carriers of Fraser Syndrome. Most importantly, a geneticist reassured me that I was not to blame, lifting a heavy weight off my shoulders and allowing me to embrace Mia’s uniqueness.
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