Meet Jorie, a one year old who is rocking that extra chromosome like a boss.
Here are some words from Jorie’s Mom:
We found out at our very first sonogram (5 weeks) that we were expecting twins. Our immediate response was “how are we going to make this work?! Twins and a 19 month old??? Just as we were overcoming the fear of becoming parents of three children under the age of two, we were hit with another scare. The doctor called around the 14 week mark with our Panarama blood results. She told us the babies’ genders, (boy, girl) and that both trisomy 13 and 18 came back negative. She then went on to say there was some confusion with the results of trisomy 21. She explained Panarama just began testing for women carrying multiples. She said that the results came back with a 70% chance of trisomy 21. The test couldn’t differentiate where the extra chromosome was being detected. Was it baby A, baby B, both baby A and B, placenta A, placenta B or both placenta A and B? Immediately my joy turned to fear again. The doctor went on explaining our options of further testing that would give us 100% answers. This testing, however, placed both babies at risk. We decided not to go this route, even after at our 25 week sonogram when the specialist found a suspect AVSD (Atrioventricular Septal Defect) in little Jorie’s heart, common in children with Down Syndrome. I remember praying day and night that Julian and Jorie didn’t have Down Syndrome. I remember praying that Jorie didn’t have a heart defect. Up until the day the twins were born, we were in limbo as to whether both twins had DS or if Jorie truly had an AVSD.
I went in Monday March 19, 2018 for my weekly OBGYN appointment. My doctor was concerned with my rising blood pressure. She sent me to have labs done and said they would call in the morning with the results. The nurse called me very early on March 20th. She said the doctor wanted to see me immediately. I called my dad to drive me up to the office, being nearly 37 weeks pregnant with twins and driving was next to impossible. When I walked into the office, the doctor said she wanted me to be induced. I began thinking okay… I will be 37 weeks tomorrow so she probably wants to induce me some time next week. Boy was I wrong. She gave me the option. I could walk over right then and there (March 20) or come in the next morning (March 21). I immediately began crying. I wasn’t ready to be a mom of three. I wasn’t ready to change three babies diapers. I wasn’t ready to feed three babies daily and make sure all their needs were being met. Most of all, I wasn’t ready to find out 100% about the DS and the AVSD.
Julian Jeffrey Pucillo entered the world at 3:38 pm on March 21, 2018. Jorie Marie Pucillo, Julian’s twin, arrived 7 minutes later at 3:45 pm March 21, 2018. World Down Syndrome day.
I remember seeing Julian for the first time and feeling a sense of relief. He didn’t have Down Syndrome. The moment I saw Jorie I began to cry. We had been chosen, “the lucky few”, that I had read all about. My tears were happy and sad. Happy because of the two beautiful babies who just entered the world. Happy because of all the wonderful things I had read about having a child with Down Syndrome. Sad because of all the challenges and obstacles that I read that are common with having a child with Down Syndrome. I remember that first night in the hospital calling a local family support group, 21 Connect. My husband and I were both so overwhelmed. Being both special education teachers you would think we’d be calm, cool, and collected. However, we were quite the opposite. We were scared, confused, and overwhelmed. Erin and Matt from 21 Connect came to visit us and really helped bring us back down from the ledge. They too have twins, Jack and Evie. Evie has DS. Could it be any more perfect?!?
Julian and Jorie have been in our lives for just a little over a year now. This year has been an emotional rollercoaster to say the least. At 4 weeks old, Jorie was diagnosed with Transient Myeloproliferative Disorder, a form of leukemia found in 1 out of 10 babies with DS. She was monitored bi-weekly for three months. Finally in early July we got the best news ever! Jorie’s lab results came back all good! All her levels were within normal limits! We were over joyed!! This however does not mean we are in the clear. There is a 20-30% chance the leukemia could come back and then would require treatment. She is currently monitored monthly. On October 4, 2018, at approximately 9:30 am, we handed our six month old baby girl over to a team of doctors and nurses at Golisano Children’s Hospital. Never in a million years did I ever think this possible but we knew she was in great hands and we knew this surgery had to happen. Upon birth it was confirmed that Jorie did have an AVSD that would need to be repaired. Those were the longest four hours of our lives. When we were able to go back and see her the nurse warned us that her chest was open due to pulmonary hypertension she had developed prior to the surgery. Again, I had done my research online. I was ready to see her connected to tons of machines and with a breathing tube down her throat. I was ready to hear all the beeping and the hustle of the ICU. What I wasn’t prepared for was her chest being open, heart pounding under a screen of tape. What I wasn’t prepared for was seeing the tiniest little being in my life laying on a hospital bed fifty times her size. What I wasn’t prepared for was the twenty day hospital stay due to some complications.
Jorie is one of the sweetest, loving, cuddly babies I have ever met. She takes pride in all she does and aims to please. She truly touches every heart she meets. She loves attention and is a ham when she has an audience. She babbles nonstop, smiles constantly, laughs uncontrollably, and loves unconditionally. As I sit here today and look back on this last year I can’t help but feel thankful. I am thankful Jorie chose us to be her parents. I am thankful for all the people that have been brought into our lives because of our Jorie. I am thankful for the patience and strength Jorie has taught me. I am thankful to be a part of the lucky few.
Oh, the places you will go, Jorie!
It was a pleasure to do a special photo session with some kiddos from Western New York who have Down syndrome for the third year in a. row. I am hoping to spread awareness locally on messages of acceptance and beauty to individuals with Down Syndrome.
Our local news station aired the story last year to shine a beautiful light on our photo shoot experience. You can watch the story here.
BETHANY CHASE PHOTOGRAPHY IS A TRUSTED AND EXPERIENCED PORTRAIT PHOTOGRAPHER IN ROCHESTER NY THAT CREATES CUSTOM NEWBORN PHOTOGRAPHY, MATERNITY PHOTOGRAPHY, BABY PHOTOGRAPHY, CHILD PHOTOGRAPHY AND FAMILY PHOTOGRAPHY EXPERIENCES FOR CLIENTS ALL ACROSS THE AREA. BETHANY CHASE PHOTOGRAPHY CURRENTLY SERVES, BUT IS NOT LIMITED TO THE FOLLOWING NEW YORK AREAS: ROCHESTER, WEBSTER, PENFIELD, PITTSFORD, BRIGHTON, PERINTON, FAIRPORT, HENRIETTA, SPENCERPORT, GATES, CHILI, IRONDEQUOIT, GREECE, CHURCHVILLE, MENDON.
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