Sophie’s Story

“I began to fervently research both Trisomy 4 and Mosaicism…”

Sophie Remilia-Eve Waterson, Trisomy 4 Mosaicism, 09/15/2015 to 09/15/2015, Newport News, VA

Sophie-1.5On July 26th, 2015 I got shocking news. I was pregnant! I was ecstatic but terrified at the same time. Just 4 weeks before I had miscarried my baby, Robin, who based on the characteristics of the pregnancy and fetus, my doctor said was likely miscarried due to a chromosomal disorder. Unfortunately we never able to get testing done and so were unable to know for sure. So finding out I was pregnant just a month afterwards was terrifying.

Despite the scares in the very early stages of the pregnancy (Low HCG levels, ultrasounds measuring behind, etc etc) we were happy to see a heartbeat at just shy of 8 weeks! However, only 3 weeks later our hearts were shattered.

“No cardiac activity seen.” Those words still echo in my mind. I was crushed. The doctor recommended a D&C so that a sufficient amount of tissue could be gathered for testing. I agreed and a week later I arrived at the hospital for the procedure.

Two weeks later my OB/GYN gave us what seemed like earth shattering news. She said that our baby, which the tests revealed was a little girl, had Trisomy 4p Syndrome. She said the condition was so rare she’d never seen it and knew nothing about it except that in most cases it was incompatible with life. We were sent to a genetic counselor and were told she would have more information on Sophie’s condition and give us more answers.

However, when our appointment with the genetics counselor came three weeks later we were stunned. Our OB/GYN had been wrong, Sophie DID NOT have Trisomy 4p, she had Trisomy 4 Mosaicism. The counselor explained that even with Mosaicim to lessen the impact of the condition, it was still to severe to be compatible with life since she had a complete trisomy of the 4th chromosome instead of a partial like in Trisomy 4p.

I began to fervently research both Trisomy 4 and Mosaicism and I was devastated at how little was know about both conditions and I have yet to find someone who’s life was impacted in someway by Trisomy 4 or Trisomy 4 Mosaicism. This is why I joined SOFT, Unique and started my own blog. I want to spread awareness about not only Trisomies themselves, but I want to provide information and resources for Sophie’s condition so that no one else has to feel so isolated by such a rare diagnosis.

erebella@live.com