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It was the night before Thanksgiving when I discovered that my daughter, Mia, had autism. For weeks, I had been anxiously refreshing her MyChart, hoping for an update on her autism evaluation. Then, there it was: Level 3 Autism Spectrum Disorder.
While many parents express profound sadness upon receiving such a diagnosis, I felt differently. I had already come to terms with the reality of her condition and was eager for answers. However, what followed was an intense desire to understand why this had happened. I couldn’t shake the feeling that somehow, I was to blame.
I found myself ruminating over all the things I might have done wrong during my pregnancy and in Mia’s early years. I questioned whether the medication I took could have caused her autism, or if I had allowed her to watch too much television as a baby. I even wondered if environmental factors were at play. In retrospect, some of these thoughts were quite far-fetched, but the guilt consumed me.
My husband reminded me that we might never know the exact cause of Mia’s autism, but hope arrived in the form of a referral for genetic testing.
We chose a geneticist at a reputable children’s hospital, and the experience was enlightening. After a thorough examination, the geneticist recommended a genetic and chromosomal panel. We collected DNA samples from Mia, my husband, and myself via cheek swabs, and then we began the long wait.
Four months later, we received a call from a genetic counselor who informed us that Mia had three uncertain genetic mutations. Genetic mutations can be classified as positive, negative, or uncertain. A positive mutation is likely pathogenic, while a negative one is usually benign. Uncertain means researchers haven’t yet determined its significance.
Initially, we had scheduled a follow-up for five months later, but we were asked to come in sooner. During that visit, we learned that both Mia and my husband carried a copy of the FRAS1 gene, which is associated with Fraser Syndrome, a rare genetic disorder. Thankfully, being carriers means this condition would not affect them, but it raised concerns for future children.
What truly intrigued the geneticists was Mia’s unique genetic makeup. The counselor informed me that Mia had a combination of two mutations in her PCLO gene, which is linked to early brain development. Both mutations were inherited from us.
The geneticist explained that while the specific effects of these mutations on Mia were unclear, there was hope. A medical student was introduced to us, and we were informed that her team would be researching these changes, with the possibility of finding more answers in the coming years.
The most reassuring moment came when the geneticist looked me in the eyes and said, “I do not believe you did anything to cause your daughter’s autism. We think her autism stems from these genetic changes.”
In that moment, the burden of guilt I had been carrying lifted, and I found myself in tears. It has never mattered to me that Mia is different; her autism is part of who she is, and I wouldn’t want her any other way. Understanding her genetic mutations may not change her life, but it has certainly brought my husband and me a sense of peace.
For anyone interested in home insemination or pregnancy resources, check out Intracervical Insemination for additional insights. You can also look at Make a Mom for comprehensive information on home insemination kits. For a deeper understanding of genetics in relation to IVF, visit Wikipedia.
Search Queries:
- Home insemination tips
- How to prepare for genetic testing
- Understanding autism and genetics
- Genetic mutations and autism
- Fraser Syndrome explained
In summary, genetic testing not only confirmed my daughter’s diagnosis but also alleviated the guilt I felt as a parent. It provided us with insight into Mia’s unique genetic makeup and reassured us that her autism is not something we caused.