Foundation for Prader-Willi Blog | Stories of Hope

PWS Mom's Courage Grows as the Story of Her Daughter Unfolds

A special contribution by One Small Step host Bailey Beasley

“Something came back on the microarray.”

We had just landed after being care flighted to a large children’s hospital. We had been in the NICU in our hometown for two weeks with undiagnosed low tone and poor feeding. Now, our Catherine was fighting for her life against bacterial spinal meningitis and the neonatologist was telling me that if she survived there was worse news. The next morning we receive a preliminary diagnosis: Prader-Willi Syndrome. The doctor listed all of the problems our precious baby would face and when she explained the hunger I lost it. It sounded like a life sentence of misery. Would my baby ever be happy?
 

Topics: Stories of Hope

Dad Believes In an Amazing Life For His Son With PWS

A special contribution by Brian Kalasek

My introduction to PWS probably started very similar to other PWS families. We were admitted to the NICU on day 3 of Paxton’s life. He hadn’t really “woken up” yet, but the nurses and doctors up to that point didn’t seem too concerned. They kept telling us he had WWBS, Wimpy White Boy Syndrome. Funny I thought, I’ve been fighting that for the past 36 years myself with limited success. By the end of the day 3 though everything had changed, we went from what we thought was a healthy little boy in the morning to total despair by dinner time.

Topics: Stories of Hope

Two Moms, 5 Years and $1.7M for PWS Research

Becky McWilliams and Samantha (Sam) Chipetz are a force to be reckoned with! In addition to managing successful careers and juggling a family, therapy appointments and play dates, these two hard working moms have been fundraising for PWS research for more than 5 years! Dedicated to finding treatments for the challenges that their sons, Brandon and Kieran, face on a daily basis, Sam and Becky have hosted walks, galas and other fundraising activities which have collectively raised over $1.7 million! 

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10 Lessons In Strength From a PWS Mom and Fundraiser

Larisa Martiniak, mother of two, hosted her first One Small Step walk this fall in Berkeley, California.  We asked her to share a bit of her perspective on what it’s like to find out her child has PWS, and how it has empowered her to take action in the day to day.

Topics: Stories of Hope

Taking Charge and Changing the Futures of Our Children With PWS

A special contribution by One Small Step host Lisa Matesevac 

As we embark on hosting our 5th One SMALL Step event, I stop and think how this all got started for our family. Like most families, we are VERY busy. At different times, we are EXTRA busy.

When our son, Evan, was born in 2006 my husband and I had different perspectives on how to manage his future. Being in the medical field, I was certain with enough research I could find the best specialists, devour mountains of research and make a plan of care to ensure his best outcomes. My husband, Michael, was determined to make his quality of life the biggest priority. Laughing, playing, and enjoying family activities was his center of focus. Together we knew we had to be impactful on the PWS community as a whole. We both passionately believed research was the future and we cultivated hope from our visits to specialists and by surrounding ourselves with a local community of families like ours.

Topics: Stories of Hope

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

A 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.

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The Nelson Family: Paving the Way for Schaaf-Yang Research

In 2014, when Emma Nelson was born, NICU staff told her parents, Kim and Justin, to prepare for the worst.

But for the next two years, Emma had no diagnosis. Kim and Justin were directed from one specialist to the next trying to find answers to their daughter’s unique symptoms. 

In the fall of 2016, Emma underwent whole-exome sequencing, which revealed a single mutation in the MAGEL2 gene, a mutation that was too small to be detected on less-refined tests. Finally, the Nelsons had the diagnosis they had been searching for. Their daughter had an ultra-rare genetic disorder: Schaaf-Yang Syndrome (SYS). Emma was only the 28th patient to be diagnosed.

Topics: Stories of Hope

Proud Brothers Cheer On Their Sister With PWS

A special contribution by Jessica Mitchell

What did you feel when you first heard the words “Prader-Willi syndrome”? Did you feel sadness? Anger? Relief? If you were anything like me, you felt the “normal” slip right through your fingertips. You read the pamphlets the doctor gave you and cried. You Googled — or your husband Googled — and you cried some more. The fear of the unknown struck with so much intensity that it was hard to imagine having any kind of “normal” in your life ever again. I have to give shots to this sweet baby every day? She has to have surgery to insert a g-tube so we can leave the NICU? But, we were supposed to be adding a blessing to the family, not a burden. What will our two boys think about having a sister with PWS? Will they envy her and the attention she receives? Will they feel the burden of having a sibling that’s not “normal”?

Topics: Stories of Hope

'We Believe There Will Be Relief For Children With PWS': A Mom's Story

A special contribution by One SMALL Step host Samantha Kalasek

Once upon a time, there was a "boy mom" blessed to be outnumbered. She believed she was living a very basic tale until she turned the page and realized it was actually a choose-your-own-adventure story.

I remember finding out I was pregnant with baby boy number three. It was the week we planned to leave for the Dominican Republic and I had to stay home due to the Zika virus. There was no way I would risk anything happening to this miracle baby. I worked so hard getting pregnant with my first two sons that finding out I was pregnant withnumber three without trying was a complete shocker. I just knew this was God’s special gift for us. Upon finding out it was another boy, I definitely had some strong feelings. I was afraid he would be overlooked as "just another Kalasek boy.” I was afraid no one would be as excited about him as they were about his brothers—same ol’ same ol’, right? Ha! If only I knew then that this little boy would be quite the show stopper.

Topics: Stories of Hope

Your Child With PWS Can Have a Beautiful Life

A special contribution by guest blogger Loraine Hernandez

Loraine shared her story via our Stories of Hope questionnaire.

How has your child exceeded your expectations?

With the horrible scenario at the hospital when she was born, I really didn't have any expectations. She got out of the hospital, we didn't have any answers but she seemed a little better. I didn't know what to expect. I got the diagnosis when she was almost 3 months old and my world was shattered. So from not having expectations, to see her how full of life she is now, saying that she has exceeded my expectations doesn't do her any justice. I can say that at only 9 months, she is a fierce, persistent and determined little girl.

Topics: Stories of Hope

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