Foundation for Prader-Willi Blog | Stories of Hope

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

For This Dad, PWS Means Exceeding Expectations

A special contribution by guest blogger Blake Brenneman

Blake shared his story via our Stories of Hope questionnaire.

Topics: Stories of Hope

Mom's Message to PWS Parents: Pride and Love Will Fill Your Heart

A special contribution by guest blogger Laura Capone

Laura shared her story via our Stories of Hope questionnaire.

Has your child exceeded your expectations?

A million times yes! We were given a very low expectation for Tommy's future, but he is a walking, talking, hilarious and smart boy.

Who has helped you in your PWS journey?

Family and friends. But we would have been lost without the online PWS community and are so lucky to have developed some really close relationships.

Topics: Stories of Hope

Mom of Triplets Celebrates Son's Progress, Finds Hope In PWS Research

A special contribution by Lindsey Larson, Host of Live Life Full Lewistown, IL

Being a first time mom is hard. Having triplets makes it even more challenging. Add to that a rare diagnosis, and it’s ... well, interesting is the only word that I can find at the moment.

We had anticipated NICU time with the arrival of triplets. I had already done the research on various medical problems that could happen at various gestational ages. I felt prepared, but anxious because who knows what could really happen. The research I had done managed to give me a little bit of comfort. We made it to 31 weeks, which is about average for triplets. Josh and I were overcome with joy when we welcomed Hannah, Elliot, and Gwendolyn into the world. We couldn’t wait to shower them with love. After a few days of struggling significantly with breathing, low muscle tone and overall alertness, one of our babies was referred for genetic testing. This was something I hadn’t prepared myself for. This was out of my research scope. Panic set in. As we waited for results, I did the best I could to take care of our three babies but I was a wreck. Bursting into tears was almost as scheduled as pumping sessions and feedings. A Prader Willi Syndrome diagnosis was confirmed for our son, Elliot, the day after Thanksgiving in 2014.

Topics: Stories of Hope

A Father's Story: Fighting the PWS Battle With Shared Love, Clear Vision

A special contribution by guest blogger, dad, and One Small Step host Adam Larson

An expecting father has crystal clear vision. You are at the moment when all you will ever amount to is about to be tested. All of your talents will be called upon and you feel in total controlNobody can really tell you anything in those final days counting down to the arrival of your child. No more advice. No more preparation. It is time and you know that with your help your child is going to achieve things that no generation of your family would have thought possible. This kid is going to succeed. You are going to be there making sure your child makes all the right moves, never makes a mistake you made. You are there and you will teach. You will provide. No matter the problem, there will be a solution because you are going to be there. Dad is here. You will love.  

When they come rushing into the delivery room it doesn’t feel right. You aren’t very experienced in delivery rooms so you try to reason and be calm. Better to not show that you're scared because you're about to be father and fathers aren’t afraidJust tell us the problem and we’ll fix it. 

Topics: Stories of Hope

Mom Sees Past Obstacles of PWS to Find Hope In Research and Community

A special contribution by guest blogger and One SMALL Step Washington, DC, co-host Dominique Deleage

Our son Charlie is now 10 years old. We found out that he had PWS when he was three weeks old. We had never heard of the disorder. I still remember the phone call from our pediatrician. We were finally home after spending twelve days in the pediatric unit, where we saw a parade of specialists who were trying to find out why Charlie was so floppy, and why he wasn’t feeding properly.

Since some of the doctors had listed really scary sounding degenerative disorders, Prader-Willi Syndrome didn’t sound as bad, but it was still a shock to hear that our infant had a lifelong condition, the worst of which being that he would be hungry. It sounded bizarre and shocking all at once.

Topics: Stories of Hope

My Dreams Are Bigger Now Than Before My Son's PWS Diagnosis

A special contribution by guest blogger Laura Hollatz

I am a dreamer. Always have been, and always will be. When I was a little girl, I wanted to be Wonder Woman.  I also dreamt of living in a huge castle with all my friends that was made out of candy. I actually still dream about this, at least the castle and candy part. I could also fly and be anywhere in the world in under a minute. Yep, the good ole days when the sky was the limit. Dreams are good. A part of all our consciousness. They propel us to be the highest version of ourselves.

Topics: Stories of Hope

PWS Blog Subscribe