Today, I'm amazed at how things have changed in one year. There are so many thoughts I want to share with those parents who just found out their baby will be born with Down Syndrome. To understand where I came from, here is the letter I wrote to our closest friends and family once we had a little time to process the news about Leo. By reading this, you will instantly see how much my perpective and how much "I" have changed in one year. We all know how Leo's story ends... but by reading this, you will appreciate even more what I will be sharing with you when I blog tomorrow.
November 9, 2011
Some of you know the very beginning of Leo’s story, but with many of you we have not yet had a chance to share. The past six weeks have been very tough for our family, especially for Chris and I as parents. Considering the unknown difficulties that may lay ahead for our family, I thought now would be a good time to share Leo’s story with each of you.
On September 22, I received the news every pregnant woman fears – there was an abnormal result from my 12 week nuchal translucency screening. On the one hand it was scary, on the other hand hopeful that it was an error… a false positive… anything but a chromosome disorder for our baby. The results showed our baby to have a 1 in 23 risk of Trisomy 21 (Down Syndrome) and a 1 in 5 risk of Trisomy 13 or 18, both of which are fatal. No one wants to be that “1”. I thought Trisomy 21 would actually be the better news, even though it was a lower risk. At least with that our baby could live. I heard story after story from other moms who had been through this abnormality, with results being false or incorrect, who ended up having a healthy baby or knowing someone who did.
On September 27, Chris and I met with the genetic counselor at my high risk doctor’s office. She agreed with my OB that the risk of Down Syndrome was unlikely, but she feared the high risk of Trisomy 13 or 18. We also found out that with Trisomy 13 or 18, certain or even most organs don’t develop correctly and a level 2 sonogram could possibly confirm those chromosome problems even before getting the results of the amnio. The counselor felt the high risk we were faced with warranted an amnioscentesis in order to rule those out and ease our minds, or confirm the chromosome disorder and prepare us for the worst. We agreed and scheduled the amnio.
On October 5, I had a level 2 sonogram and amnio. The sonogram showed the baby’s organs to be developed normally (from what they could see in this tiny one). We had hope! Just to be sure, we followed through with the amnio being performed. By the end of the appointment, at only 15 weeks into the pregnancy, we found out we were expecting a little boy. Our second Boy! A brother for Seth – yay! ANOTHER brother for Meris, awww… Two days later, we would get results from the rapid test called “FISH”. It provided results on the four most common chromosome disorders – Trisomy 21, Trisomy 18, Trisomy 13, and Gender.
On October 7, I received the call from the genetic counselor with news that changed our lives forever. The FISH test confirmed Trisomy 21 (Down Syndrome). My heart sank. My mind went blank. I wasn’t expecting this because it was the “lower” risk. This should have been the “better” news, but to me it felt like the “worst”. I should have been happy that our baby had a better chance of being born, a better chance of living. But instead, my heart was broken into a million pieces at the thought of having a baby who would not know a ‘normal’ life. I shared this with a few friends… again, everyone had a story of someone they knew who received a result from “a test”, with the same news, who gave birth to a perfectly normal baby.
Now you all know what I do for a living. I work in the medical field with clinical research, I spin down blood and send it off for testing all the time. I’ve seen patients, or at least read their clinic notes, with a new diagnosis who want to believe there was some mistake in the lab. I spend time wondering why they feel that way, why they don’t just accept the test result and move forward? Well for a while, I became that patient. Wanting to hang on to some false hope that this was all wrong, and the final test would confirm that mistake. Even though my heart wanted to hang on to any possible hope, my brain knew that it would be extremely rare for this result to be wrong. But somehow, I convinced myself that I wouldn’t accept it fully until the results of the SECOND chromosome test, performed in a separate lab, came back. Surely two results from two different labs could either confirm the result or point out the human error that I so desperately hoped for.
The next few weeks were a roller coaster of emotions. On October 19th, the results of the full chromosome testing was completed and confirmed the Trisomy 21, yet again, was a fact. Both tests had the same result. This was really, really, real.
The next step would take place on November 2, at week 19, with another Level 2 ultrasound to look at the health of this baby boy… this little but growing bigger every day guy, our little Leo. We never knew, until now, that there are a multitude of physical challenges for babies/children with Trisomy 21. There is a wide range of heart defects (70% risk?), digestive organ defects, hearing and sight deficits, just to name a few. And the most common issues, which we will wait even longer to determine, are the mental status and learning disabilities of this little boy. At that sono on November 2, we received the best possible news parents in our situation could hope for. Aside from the genetic testing confirming Trisomy 21, and aside from not knowing our baby’s mental status that will develop after he is born, this sonogram showed we had an otherwise completely healthy, 15 ounce (measuring large for his gestational age), with “big feet”, sweet baby boy.
Although our baby boy’s health is as good as we can hope for at the moment, there is still the possibility of some minor birth defects. He is also at higher risk of not making it full term, although I am being followed very closely by my OB and Perinatologist in case intervention is needed. So we ask for your prayers for his continued progress, good health, and God’s protection. We are making a leap of faith that God will protect him, provide for him, and most of all give us the courage to raise this little boy to be whatever he was meant to be in our lives and in the lives of others who share his path.
So why am I sharing all of this? There will be times ahead when we need the help and emotional support of our family and closest friends. But most of all, as I've already mentioned, we need your prayers. For us, and for Leo. We have faith there is a reason God has chosen us to take care of this special little one, and we want to continue sharing his story with you. Until the next chapter begins…
The Ghormleys
Thankful, today, for answered prayers.
Love,
Joyce
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