Singing, Dancing, Changing the World: Our Mighty Girl With PWS

singing-dancing-changing-the-world-our-mighty-girl-with-pws.pngA special contribution by Noelle Scalzo

Our story started out as so many others do with the dream of a "perfect" and "healthy" baby. We wanted to bring just one more tiny human into our world, a sibling for our now 4 year old Danica to play with and share and explore. One more cute baby for my oldest Alexandria to dote on and tease and teach. One more for my husband Nick to spoil and love. One more for this mama to heal with from a heartbreaking miscarriage. One more to be complete.

And it happened! We knew we had another girl on the way and all the testing we had completed looked great. Then closer to the end of my pregnancy, I started to notice that something was just not quite right. My belly wasn't as big as it should be and she wasn't really moving as much as my others did. We found reasons to excuse these differences and waited for her arrival.

The delivery was far from the experience you hope for and when she was finally out in the world for us to see and hold, she didn't cry and she was very floppy. We learned that's not just a description but and actual term for some babies. Our baby.

She wouldn't latch to breastfeed because she was so sleepy but we found excuses for all of these things and gave her a little more time.

We were sent home on schedule and as the first few days went by I held her close to my skin to bond and get her stronger. My baby had to be woken to eat and was too weak to suck. As her first week ended I remember telling Nick with tears that something just wasn't right. I was done making excuse and waiting for her to wake up, and I was scared. At this point she had lost too much of her birth weight and she began having seizure like movements. We were sent to the ER and so our new story began.

In the NICU they labeled her with poor suck, low muscle tone, and "failure to thrive" and began to search for why. That first frightening night in the NICU we met a neurologist who was there to help us rule out seizures with a video EEG. She was the first who mentioned this syndrome, Prader-Willi.

Our precious new baby girl went through so many pokes and prods and tests to rule out anything and everything they could. We then met a geneticist who told us of they would test for for PWS and some other very scary diseases. While we waited for the results, Dom went through surgery to insert a feeding tube and a few days later we took her home for the second time.

At four weeks old, we had our answer and Domenica was diagnosed with Prader-Willi Syndrome. After all she had already been through in her short time here our hearts just broke into a million pieces.

In the days following her diagnosis we dealt with overwhelming emotions, too many medical appointments, and a blur of everyday activities. There is a sense of isolation that comes with a baby who has special needs. People want to help and say the right things but there is little anyone can do or say to make it better. It's a strange place to be...so utterly in love with this new baby and so heartbroken and fearful of what the future may hold.

I started reaching out to the PWS organizations and joining support groups on Facebook. Other PWS moms called and reached out and we shared the stories of our children. Most of their stories were quite similar and sometimes almost interchangeable. As I began to hear how these other children were growing and thriving I finally started to feel hope rising up for Dom. I felt as though I were finding my mom tribe.

I decided to become Dom's advocate and mama bear. My fierce love fueled me to read and research and act. We visited Dr. Jennifer Miller in Gainesville, Florida, who prescribed growth hormone, and we enrolled Dom in an upcoming clinical trial.

We've come a long way from our scary time in the NICU to planning our first One Small Step fundraising event for this October. Hosting a walk was an idea that we talked about not only to raise money for research, but to help raise awareness for Domenica and all of those affected with PWS. Before being admitted into the NICU we had never heard of Prader-Willi Syndrome, let alone knew of anyone with it. My hope is that this walk will provide information about the syndrome, inspire people to donate to help fund research, and encourage local PWS families to become a community. I am excited to host a One Small Step walk next month and humbled that so many people care enough about her and us to help make it happen.

This first year will be the hardest year for Dom and our family but we will continue to expect everything wonderful for Domenica. She will sing and dance and make friends. She will have her own dreams and adventures. She will have every opportunity to change the world just by being herself. She will do it all in her own time and in her own way.

Domenica is now four months old and her story is still just beginning. We have learned so much already and know that she is truly lucky to have all the right friends on her side working to ensure her best possible future. Our mighty girl has taught me to slow down and become the mother she needs me to be. As a family we take the time to cheer for her when she accomplishes what others might overlook. We will all be better people for having someone as amazing as Domenica in our lives.

Do you have a story of hope to share with others about your experiences with PWS? Send it to us!

dr jennifer miller standards of care for pws video

Topics: Stories of Hope

Sarah Peden

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Sarah is FPWR's One Small Step coordinator. She became involved with FPWR shortly after the diagnosis of her daughter, Lily in late 2009. She first began fundraising through her “Running for Lillian” event where she and her friends raised funds for PWS research through peer-to-peer fundraising. Sarah joined the One SMALL Step team in 2012 holding her first of many walks in Bloomington, Indiana. Sarah has held multiple volunteer roles with our organization prior to joining our staff and was the chair of our Community Leadership committee from 2014-2015. She has more than 11 years of event planning experience with for-profit and non-profit organizations and hold a Bachelor of Science in Recreation with an emphasis in tourism, hospitality and event management from Indiana University.

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