Entry One- Where to start?

Photo: November 2018

Everyone’s story is so different. Everyone’s journey is unique. I think that for you to fully understand why I made the decisions I did along the way, it is important for me to start at the beginning of my story. My story is long (like most I am sure) and I don’t want to bore you with all of the details right away. Throughout the course of my blog I think I will insert pieces from my past that helped shape me as a mom.

I think that I will to start all the way back in my own childhood, otherwise my story wouldn’t be complete. In 1996 at 10 years old I was diagnosed with ovarian cancer. My dad had picked me up from school one day with a terrible tummy ache and took me to my doctor’s office for a check up and from there we went to The Hospital for Sick Children in Toronto for a couple of weeks most of that time was spent doing diagnostic tests, and then after receiving the cancer diagnosis I stayed for my first round of chemotherapy. My parents have been through a lot and they can relate on a deep level to what I am going through now. They have been a huge source of support for my family.

I met my husband in 2003 in Texas. We both had earned tennis scholarships to Texas A&M University in Corpus Christi. We were married in November 2012 and had our daughter, Olivia in February of 2015.

We had qualified (because of my rare childhood cancer) and took advantage of genetic testing when I was pregnant with our daughter. We elected not to do an amniocentesis and decided on the bloodwork and ultrasound option. Everything came back “low risk” for my daughter. She has always been an exceptional child. She ate and slept well as an infant and continues to do so, she is smart, kind and beautiful. I became pregnant again in early 2018 and again we elected to go through the same genetic screening that we had with my daughter. With the bloodwork and ultrasound everything came back “low risk” and once again we elected not to do the amnio. Things happen for a reason. I am so happy that we didn’t do the amnio for my son’s diagnosis would have shown up there. We avoided having some tough conversations. My son was born in October 2018.

In a later blog I will discuss my journey in more detail from my son’s first symptoms to diagnosis. For now I will be brief. In late November 2018 my son started having seizures at home. I sent a video to my aunt who is a pediatrician and she sent us straight to our local hospital and from there we were transferred to The Hospital of Sick Children in Toronto. After carefully looking at the MRI of his brain they found something called polymicrogyria (PMG for short) meaning that he had extra small folds in bilateral frontal lobes of his brain. We were then referred to genetics. My son was diagnosed with 1P36 deletion syndrome (a portion of his first chromosome is missing) and this caused the PMG. There are many potential challenges associated with this diagnosis including developmental delays across the board (social, speech, cognitive, gross and fine motor). My son has delays in all of those areas. He has moderate to severe hearing loss in both ears and wears hearing aids. He has seizures (which are currently controlled with medication) but we are always on guard. Eating and weight gain has been a struggle and he is not a great sleeper. But he is the happiest little guy with the sweetest most infectious smile. We are so happy that he is ours. But it is a constant challenge to balance the needs of both of my children.

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