How One Mom Changed PWS Diagnoses for Us All

When we prepare to bring a child into this world, we all have some basic expectations for what our child’s future will look like. We can’t wait to cuddle our infant those first days and soak up their newness. We anticipate all the firsts; first bath, first crawl, first giggles, first steps, first words. We envision playing on the floor, holding onto the back of a bicycle seat, and walking into the first day of kindergarten. We wonder if our child will excel at academics or athletics, arts or mechanics. We are determined to raise children that will one day be self-sufficient adults who will go on to procure amazing futures for themselves.

We do not, however, imagine a life full of struggle. We don’t expect that it may not be safe for us to hold our newborn baby, or that we must do so only briefly with wires and monitors attached. We never foresee a childhood where firsts may never come. We do not anticipate a childhood spent in hospitals and medical waiting rooms. We never think our child will require expensive medication or lifelong care. And we certainly don’t worry who will care for our child throughout adulthood if we are unable.

For far too many parents, the unthinkable is our reality. And it hits very, very hard. One minute you are walking into a hospital packing anticipation and excitement, the next you are leaving empty handed loaded down with dread and concern for the little life who wasn’t quite ready to come home yet. When it’s finally time to welcome your fragile baby home, you experience fear on a whole different level.

In this time of anxiety and anguish, we look to the medical professionals to guide us. We put our faith in them, trusting their knowledge gained through years of study and experience. It is their wisdom that often determines our outlook.

When our daughter was diagnosed with Prader-Willi Syndrome, we were crushed. Hers is not a straightforward disorder. Prader-Willi Syndrome is quite complex affecting every system in the body; and it affects every individual differently making it extremely difficult to treat. The few treatments that exist are not one size fits all. Even so, we were fortunate.

So many families are given a heaping dose of long-held beliefs about PWS. They are given worst case scenarios and sent on their way. Our experience was very different. We were lucky enough to be sent home from the hospital with a prescription for hope. And we had a fellow PWS mom to thank for it.

Shortly after bringing our daughter home, I was put in contact with a mom, Ashley, whose son, six years older than my daughter, was also diagnosed with Prader-Willi Syndrome. As it turned out she lived not far from us. During our fateful phone call, I learned of the horrifying experience she had upon receiving her son’s diagnosis.

When her son’s geneticist delivered the news, he told Ashley to prepare. Prepare for a son who would likely never walk and never talk. He told her that her son would never live independently and would require round the clock care. In essence, he told Ashley not to expect too much from or for her son. It was devastating news delivered in a most excruciatingly clinical manner. And then, he sent her on her way.

I wonder how many parents he had delivered that very message to, in that very way. How many parents had been sent away with a feeling of utter hopelessness? I soon found out that the doctor lit a fire in that mama. Ashley was determined to be the last PWS parent to receive such a diagnosis from this geneticist.    

In the months after her son’s birth, this brave mama started to educate that doctor. She began providing him updates of her son’s progress. That geneticist was notified every time her son hit one of those treasured, but seemingly unattainable milestones. He received notice about a first crawl, first steps, first words and first days of kindergarten. He was made aware of school progress and other activities.

Ashley’s intent was to encourage this doctor to look beyond what the decades old literature had taught him and see with his own eyes what children with this diagnosis could really accomplish with the proper support and encouragement. She wished to show him just how far a little hope could take these children and their families.

During our conversation, I was struck by the sharp contrast of our day of diagnosis experiences. If you’ve read my blog, Letting Your Child Drown and Other Great Parenting Advice, you know that our geneticist delivered the news with excellent advice and a slice of hope. When we left the hospital, we were uncertain and scared, but we were hopeful.  

When I relayed my experience to her, Ashley was surprised, but neither of us expected the shock we would feel when discovering that the geneticist that delivered that heartbreaking speech to her was the same doctor who delivered a message of cautious optimism to me.

There is no doubt in my mind that it was Ashley’s relentless pursuit to enlighten this doctor that allowed our family to begin our journey more optimistically than most.

This amazing mom continued her passion to educate, becoming an ardent advocate for individuals with intellectual and developmental disabilities. She has spent years fighting for this often-overlooked population at both state and federal levels. Ashley is moving mountains and changing the landscape not only for those with PWS, but for all those affected by disabilities.

Ashley’s passion to preserve hope within this community has changed the future for us all. And it is important that we take her lead. We must educate others on our children’s disabilities and their abilities, including those deemed specialists. Do not be afraid to speak up, challenge those long-held beliefs. Your advocacy will affect generations to come, painting parents a more realistic picture of their children’s future and gifting them a little hope.