• Lisa Roque

The Greatest Gift I Never Wished For...

He is the greatest gift I never wished for...


Did you know October is Down syndrome awareness month? I didn't either until a few short years ago I found myself researching the words, "Down syndrome". This was my third pregnancy and being 38 years old I decided to do the NIPT (non-invasive prenatal testing). I will be honest, I only cared about finding out the gender of the baby. I quickly realized however that gender would be the least of my worries. Two weeks go by and I get what felt like the worst phone call I could imagine at the time. My doctor called to let me know I would be having a baby boy but that wasn't all, she proceeded to tell me that the results came back that my baby would have a 90% chance of having Down syndrome. I was completely destroyed, I didn't know how to process any of this because I knew nothing about Down syndrome. I couldn't avoid the typical question, why me, what did I do wrong?


I was thrown into this world I knew nothing about, I already had two normal pregnancies, why did this one have to be different? Little did I know that this world would be the greatest gift given to us. The reality was this baby wasn't going to be any different than his brothers… I just didn’t know that at the time. After meeting with the genetic counselors, turning to social media to find families who have loved ones with Down syndrome and also researching how Down syndrome occurs I realized I didn't do anything wrong! This was so important to hold onto because as mothers we carry so much guilt. I didn't want to carry guilt nor did I want people who were naïve like me about Down syndrome to think I did something to cause this. Looking back I’m not sure why I even cared what others thought, but it was a real fear I had. For those of you who don’t know, Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of the chromosome 21, it's completely random and there is no way to ever really know why it happens. Because of this extra genetic material it causes the developmental changes and physical features of Down syndrome.


On December 20, 2019 I gave birth to a beautiful boy named Pauly who was diagnosed with Trisomy 21. Pauly's diagnosis will never define him as a person. In fact he is lucky to have his amazing “designer“ genes, after all what makes us different is what makes us beautiful!


Pauly was thankfully born with no major heart defects, at 20 weeks the pediatric cardiologist did a fetal echocardiogram to find out that he would fall into the 40% of babies diagnosed with Down syndrome who would have no major heart defects. 50-60% of babies with a Down syndrome diagnosis require major heart surgery after birth. We currently continue to monitor Pauly's heart, he has two small holes which are referred to as PFO's, he also has what's called a VSD (ventricular septal defect) and ASD (atrial septal defect). This is not uncommon for any baby, but especially a baby with Down syndrome. There are some other common medical concerns we continue to watch with Pauly. Congenital Heart Defects as I mentioned, respiratory and hearing conditions, thyroid conditions, eye conditions and Celiac Disease.


Here are some other things you may have not known about Down Syndrome. Babies with Down syndrome have low muscle tone, known as hypotonia which is why it takes them a little longer to talk, walk, and sometimes eat the same foods as others. Services offered earlier in life will often help babies and children with Down syndrome improve their physical and intellectual abilities.


Children with Down syndrome do well in inclusive classrooms with appropriate modifications and accommodations. We prefer "people first' language. A person with or who has Down syndrome not a Downs person or the Down syndrome kid. It's important to remember Down syndrome doesn’t define who they are.


World Down syndrome day is celebrated every March 21st, the third month and 21st day. You may see 3.2.1 representing for Down Syndrome, that’s us! It’s no wonder they have chosen a special day to celebrate this community because it is a beautiful family to be apart of.


There is no denying Pauly brings a special light to our family. We refer to ourselves as the lucky few. Not everyone gets to experience this kind of level of pure joy.


Pauly’s love isn’t something that’s easily explained, but I can assure you if you’ve ever had the pleasure of encountering him or any other child with Down syndrome you know what I mean. The lucky few community has created an unbelievable bond and for that we surely do deserve to celebrate the month together. By raising awareness we raise questions, and with that we eventually gain acceptance. Awareness and acceptance go hand and hand, it is a process. Acceptance is about reality. Together we can all strive to accept and empower kids and adults of all abilities. The reality is we all have strengths, challenges and gifts to share.


If you have a child with Down syndrome or have received a prenatal diagnosis of Down syndrome remember to accept the diagnosis, but don’t let anyone tell you what your child may or may not be like as they grow.


As we say in the lucky few community, “Welcome to Holland!”


It's easy to fall in love with this beautiful family. Nic n' Bella designed a bracelet to celebrate Pauly. Labradorite gemstone beads and a Down Syndrome Awareness stainless steal charm are the perfect addition to any stack. A letter can be added to represent someone who rocks their extra chromosome. 15% of sales will be donated to NEDSRA (Northeast DuPage Special Recreation Association). Visit their website or Instagram at @nicnbelladesign to place an order!

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