Today, I’m pleased to welcome Susanne from She Will Amaze You, a wonderful blog recounting the journey of a family dealing with Prader-Willi Syndrome.  Susanne and I first met in 2008 when we were pregnant with our oldest boys, and we are friends and neighbors, separated only by the U.S.-Canadian border.  Susanne’s daughter, Ellie, is an amazing little girl with an incredible story.  Since we can’t hang out and have weekly play dates for our children, I offered Susanne a chance to tell her story here.  I hope that you will read it and please consider helping in some small way.

I’ve added a link to Susanne’s blog over on the right, and I encourage you to visit there, as well.  As blog writers and readers, we are part of a larger online community, and I believe it’s important to help one another, just as we do for our friends and neighbors in our local communities.  Thank you for reading my friend’s story, and if you are moved, please share it with others.  Raising awareness of PWS will help to find a cure, and we can contribute to that goal.

Hi there!  My name is Susanne, and Catherine and I go back to the days when we were pregnant with our oldest children in 2008.  We’ve kept in touch over the years, and Catherine has been very supportive in the journey my family has taken following the birth of my daughter in 2011.  I am incredibly grateful to have been offered the opportunity to share my daughter’s story with you, her lovely readers.

This is Ellie:

She is 15 months old, or 13 months corrected (she was born 8 weeks early).  She is a tiny peanut, tipping the scales at 13 pounds, 4 ounces, and almost busting out of 0-3 month clothes.  She is the calmest, happiest baby I have ever met.  But there’s something you don’t see in this photo.  Ellie is hungry.

When I say hungry, I would ask for you to imagine the hungriest you have ever been, where you’re absolutely starving, ravenous, where all you can think about is getting something to eat.  That is Ellie, every minute of every day.

You see, my sweet little girl has a genetic condition called Prader-Willi Syndrome.  Without getting too complicated, PWS involves a deletion of some genes on the 15th chromosome.  PWS is a spectrum disorder, but for Ellie it means she experiences a huge number of symptoms, ranging from mild albinism, low muscle tone and growth hormone deficiency, to hypothyroidism, and severe complex sleep apnea.  The worst symptom, and the one that impacts her lifespan, the quality of her life, her ability to live independently, and which means she will for the rest of her life battle obesity, is the hunger.

Ellie’s brain doesn’t receive the signal that she’s had enough to eat, and she is plagued by an insatiable appetite.  Given the opportunity, she will eat until the point of stomach rupture.  Adding to this, her metabolism runs much more slowly than that of a normal individual, predisposing her to morbid obesity.

Ellie can’t focus if food is around.  It is all she sees.  When she’s had enough (enough based on a carefully compiled nutritional plan), she begs for more.  She signs for more, more, more.  And she cries.  She will cry the most heartbreaking, soul shattering cry.  The hardest thing, the only thing we can do to keep her safe is to say, “No.”

Inside, we crumble, but for her we stay strong.  For her, I would do anything.  We have spent months upon months in hospital with her, initiating breathing and growth hormone treatments, battling illness after illness.  We work for hours with her on physical therapy, occupational therapy, speech therapy.  She has a huge team of doctors, and a crew of nurses that come into our home to watch her overnight, almost every night.

We can handle this.  We are strong.

What I would give anything for, is for her to feel the sensation of being full.  I would give up all my worldly possessions to stop her suffering, to help her live a normal life, to let her eventually live independently; to not have to worry about her getting into the fridge, or stealing food from the grocery store.

There is no cure for the hunger of Prader-Willi Syndrome.  Because it is a rare disease, affecting approximately 1 in 30,000 births (1 in 50,000 of the general population), it receives little to no government funding.

In 2006, a bunch of PWS families banded together to form the Foundation for Prader-Willi Research.  FPWR’s mission is to eliminate the challenges of PWS through the advancement of research.  There’s an incredible research plan in place, with the goal of eventually curing PWS, but, this all costs a lot of money.  One Small Step walks were started to raise awareness of PWS, and to raise funds for research.  What started as a small, one town event, has spread internationally, with locations all over Canada, the United States, and Europe.  To date, FPWR has funded $1.2 million in research projects.  This might seem substantial, but much more is needed before a cure is found.

My main goal is to raise awareness, and by reading this, I hope you will remember what PWS is, and perhaps find it in you to spread the word.

We are hosting a walk in September (https://www.facebook.com/OneSmallStepLadner).  If you’re in the Lower Mainland of British Columbia, we welcome you to join us.  If you’re elsewhere, I encourage you to look up locations local to you: http://onesmallstep.fpwr.org/dw/walking.

Or, if our story has touched you, perhaps you would consider making a donation: http://onesmallstep.fpwr.org/dw/users/elliebelle/ladner2012.  Even so little as what you would spend on a coffee goes a long way towards helping us achieve our goal of funding a cure.

Thank you,

Susanne