PWS Awareness Month | May 2017

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What is Prader-Willi Syndrome? 

  • PWS is a rare, life-threatening medical disorder caused by a loss of genetic material on the paternal copy of chromosome 15.
  • PWS affects approximately 1 in 15,000 people. PWS occurs randomly, affecting males and females and people of all races and ethnicities equally.

Challenges associated with PWS
Nearly every system in the body is impacted by a PWS diagnosis. PWS affects:

  • Hormones
  • Body composition
  • Muscle strength
  • Appetite
  • Behavior
  • Cognition and learning
  • Temperature regulation
  • Pain tolerance
  • Sleep patterns

The hallmark symptom of PWS is hyperphagia, or continuous, extreme hunger. A person with PWS never feels full. Exacerbating this problem, those with PWS have a slow metabolism and need only a fraction of the calories compared to their peers. 

Evan has not entered hyperphagia yet. It usually begins sometime between 2 – 8 years old. 

What causes PWS?
Evan has PWS by deletion (type 1), which means he’s missing a small piece of his 15th chromosome.

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Image from FPWR’s slide deck

Of the 20,000+ genes that make up the human body, Evan is missing about 14. Identifying the function of each gene is an ongoing area of research.

Fun fact – Evan’s light features are the result of a missing pigment gene!

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Ideogram from Atlas of Science
Treatment
There is no cure for PWS, but some therapies and medicines may help alleviate some symptoms.

  • Medical Team: Evan’s crew includes two endocrinologists (1 local, 1 in Florida, a PWS expert), nutritionists, geneticist, urologist, pulmonologists (1 general, 1 sleep specific), ENT, developmental pediatrician, primary care physician, neurologist, cardiologist, optometrist, and orthotist.
  • Therapy: Evan was 4 days old when he had his first therapy session. He has physical and speech therapies weekly (and just graduated from feeding therapy, whoo-hoo!). He is on a waiting list for hippotherapy
    Physical Therapy – Evan took his very first steps in PT a few weeks ago. We work hard on core strength to help with balance, and he wears orthotics for ankle stability. He loves his walker and has started climbing!
    Speech Therapy – Evan uses signs, including more, eat, walk, and my favorite, please. He says a handful of words including roomba, bubble, Ah-buh (Abby, our dog), and his favorite, cop (helicopter). Speech does not come easily to him, but he’s attempting more sounds and signs daily.
  • Evan takes 8 daily medications and supplements to keep him healthy, including…
  • Growth Hormone is delivered via needle injection every night. All bodies naturally make GH, but Evan’s body doesn’t make enough. GH increases height and improves weight distribution. It is often a lifelong treatment for those with PWS. Thankfully, Evan is usually a good sport about it! (The alcohol swab didn’t make it into this video!)
  • Diet – Evan follows a special diet. Recent studies suggest that low carb, high (quality) fat diets help those with PWS manage symptoms. Because Evan is still little, he needs some carbohydrates for brain development, so I’ve dubbed his current diet “exploratory modified keto.” He’s never had a piece of candy or a slice of bread. A hunk of banana is an occasional treat for him.

    So, what’s on Evan’s plate?

    This slideshow requires JavaScript.

How’s Evan?
Kid is a fighter. Blake and I regularly say “…if only we could see a glimpse of him today when we were in the NICU.”

 

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1 week vs. 16 months
Because of previous miscarriages, my pregnancy was monitored closely, but we were regularly assured that our baby was thriving. Then, at 41 weeks, our baby emerged seemingly lifeless. Evan was resuscitated at birth, needed oxygen support for three weeks, and a feeding tube for over four months. We learned that Evan had major brain, heart, respiratory, and kidney concerns…not to mention weak muscles and a scary, pending diagnosis. Although fear and sadness still get us down sometimes, Evan lifts us up. No milestone inchstone is taken for granted. He’s far more “typical toddler” than we ever imaged. He loves dancing, things that go, and destroying the tidy house we once owned. Life is way better with him in it.

Caring for Evan pages
 
includes more about his specialized day-to-day care (I give this to Evan’s daycare teachers and babysitters).


The Foundation for Prader-Willi Research
We support The Foundation for Prader-Willi Research because they’re committed to a cure, investing over $9M into critical research and funding 130+ projects since 2003. Finding FPWR felt like finding home again after Evan’s diagnosis flipped our world upside down. We attended FPWR’s annual conference in Rhode Island last October – meeting families and researchers filled us with such great hope. We can’t wait for the conference in INDY this August. We LOVE being part of the FPWR family!

Media master Blake recently created videos to help explain VNS & the PC1 DiscoveryThere is so much we’re excited about! We learn about new developments weekly. See how the funds we raise impact Evan’s future by visiting FPWR’s Research page

Fundraising
To date, Team Evan has raised an incredible $14,000 in the fight against PWS. Thank you, Team Evan! When we first learned about PWS, we were plagued with fear. The support from our team has been uplifting, empowering, and healing. We are so grateful that you are committed to helping Evan LIVE LIFE FULL, not just in his belly, but in all aspects of his life. You make a difference. Thank you!!!

Visit our fundraising page: Team Evan
ALL DONATIONS MATCHED May 2 – May 9 for PWS awareness month!

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Upcoming Events:
One Small Step Walk – September 16, 2017, Washington Township Park, Avon, Indiana
Evan’s Ride – October 7, 2017, Eagle Riders, Motorcycle charity ride

Learn More:

We would love to answer any questions you have about Evan or PWS. Please ask!
Awareness = funding = research = A CURE!

Love,  
Natalie, Blake, and little warrior Evan

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A Break Up Letter to my Son’s Geneticist

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Dear Dr. Geneticist,

I arrived to our last appointment uncharacteristically early, eager to get it over with.

We spent an hour in the waiting room and another 30 minutes in the examination room. If you know anything about 1-year-olds, you already know this was not going well.

Finally, the door swung open, but you were mid-conversation with the team of people trailing you. “The patient is classic PWS. You’ll notice the narrowed bifrontal diameter…” you stopped when your eyes met Evan, who was grinning mischievously as he stood on the examination table, reaching to pull an otoscope cord out of its outlet. You studied him for a moment. “Well, perhaps the facial abnormalities aren’t quite as severe as I remember.”

That’s right. I thought. He actually looks like his dad. And his uncle Jeff.

“So,” you slapped your hands on your knees as you took your rolling chair, peering over your glasses. “How are you doing, you know, with the diagnosis?”

“Um, well, the diagnosis isn’t great, I guess, but Evan is awesome. He’s doing awesome.”

You waved one hand behind you, arbitrarily introducing everyone crammed into the room—the resident, medical students, nurses, a nutritionist. I didn’t recognize any of them from our first appointments, but I suppose rare diagnoses attract a crowd. Everyone, come look at the kid who is missing part of his 15th chromosome!

After confirming Evan’s height, weight, and current medications, you reminded me about the scariest parts of his Prader-Willi diagnosis—the insatiable hunger and accompanying behavior issues—of which, I am acutely aware. You told me I should be mindful about who we allow to care for him as most people probably won’t be able to handle him in a few years. You said if I thought things were hard now, just wait—soon restaurants, holidays, and public outings would likely be impossible. You talked about the “probably nots” and “definitely nots.”

You said if Evan learns to walk, it won’t be before his 2nd birthday, and likely much later. “He’s making great progress. Physical therapy is going well. He’s hitting many of his milestones…” I protested.

You continued, uninterested. You made no room for good news, but acted surprised when Evan kept interrupting you. “He seems to be vocalizing a lot. That’s somewhat unusual for his age and his diagnosis.” It’s a rare condition. How many kids have you really seen with his diagnosis? How are you so certain about what “they” can and can’t do? 

Evan proudly held up a piece of crinkly exam table paper he had torn out from underneath him. I nodded, smiling approvingly, then fired back at you, explaining that we receive exceptional care through our endocrinologist and the rest of our medical team. “They get paid a lot of money to write scripts,” you replied. Right. Because battling insurance companies, holding a screaming baby during blood draws, and administering daily medications is something we just do to keep doctors in business.

Cue eye roll.

Evan was restless and I had lost my patience, so I didn’t bother explaining the promising research for which we vehemently fundraise, or the families we’ve met who are managing PWS like rock stars. Instead, I shook your hand and smiled through barred teeth.

As we walked out of your office, I leaned in to Evan, snug in his stroller, and whispered, “Don’t worry bubs, dude’s a jerk.” Except I didn’t say jerk. I used a few more colorful words that I’m certain the editors at The Mighty won’t publish.

Point is, no amount of textbook research or PhD qualifies you to determine what my son is going to be like. The 14 genes he’s missing affect him profoundly, but the other 19,986+ healthy, active genes are uniquely his. While I recognize the value in being educated and realistic about my son’s condition, I see deeper value in getting to know him as the individual he is. There is no greater pleasure than watching him grow into his own. His strength and spirit delights me every day.

We won’t be back to your office.

Best,
Mamma Bear

 

A Day in the Life of a Parent with a Rare Child

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Photo by Amanda Goodin Photography, a fellow special needs mamma, Indianapolis

My world screeches to a halt as I read a grieving mother’s account of her daughter’s sudden death. I try to count the number of deaths I’ve read about since my son was diagnosed with the same condition, but I lose count and cry. And cry. And cry.
Rare disease is devastating.

My 20th rejection letter arrives from a business declining to participate in the silent auction I was planning for my son’s first birthday party. They explain that their charitable funds are allocated for a more recognizable organization.
Rare disease is unfair.

I listen to crackly instrumental music on call waiting with the specialty pharmacy. My son’s nightly injection supplies were not delivered on time. Forty-five minutes pass as I am transferred from one department to another, pleading to speak with a manager, then starting over again when the call drops. I am finally told there’s a delay in the order. I call the doctor’s office and the insurance company pleading for help. I try the pharmacy again a few hours later to no avail.
Rare disease is frustrating.

I catch a glimpse of myself in the mirror – my unwashed bun falling out, spit up on my shoulder, my eyes dark and puffy after another late night reading and researching. I promise myself to go to bed earlier tonight, a promise that I will likely break.
Rare disease is exhausting.

I hop into the clunky van we paid cash for after we traded in our shiny new SUV. I quit a job I loved at a place I loved so I could keep up with my son’s appointments and therapies. I now work part time at a new place and starting over is hard.
Rare disease is full of sacrifice.

Jealousy strikes as I stand in line at the grocery, peering into the cart ahead. Chicken nuggets, donuts, and boxes of macaroni are among the items – a far cry from the grain free, sugar free diet my son must follow.
Rare disease is inconvenient.

As I leave the store, jealousy hits again as I see how well a baby girl supports herself upright on her mother’s hip. I wonder how gracefully she likely achieved her other milestones – without the help of physical therapy, medications, or a team of doctors documenting her every move. I feel ashamed of these feelings and convince myself to be happy for other people’s healthy children.
Rare disease is unstable.

I overhear parents chatter about the end of the soccer season and report cards and I wonder if my son will have the same opportunities as his peers.
Rare disease is lonely.

I hear my husband’s sigh as he opens another medical bill, then adds it to the pile on his desk. We wonder how far into the two year waiting period we are for our state’s Medicaid waiver.
Rare disease is expensive.

The memory of our first genetics appointment replays in my head…again. “He’ll probably walk, he’ll probably talk, but you should know that the most severe cases may not.”
Rare disease is uncertain.

And then I hear his giggle.

I see his smile.

I sit on the floor and he climbs into my lap. He looks up at me and reaches for my face, wet with tears. The boy I was told may not show affection smiles right at me.

I look at him and I don’t see rare disease. I see my son – a happy, determined little boy.

And I remember it’s all worth it.

The Beginning

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Evan was four days old when the NICU doctor finally gave in to our insistent questions. He was full term but couldn’t breathe or eat on his own. Something was wrong.

The doctor hesitated, reluctant. “Have you ever heard of Prader-Willi Syndrome?  We can’t be certain without a blood test, but he seems to meet some of the criteria.”

She put pages she had printed from the Internet on the counter. My husband, Blake, went first. “Don’t read it,” he said through puffy eyes. I read the first bullet point, then waited an hour. A few more bullet points the next hour. I couldn’t handle it all in one sitting.

  •  Failure to thrive
  •  Physical, cognitive disabilities
  •  Anxiety, aggression, behavior issues
  •  Infertility

Just as I had begun grieving the healthy baby we thought we were having, I grieved the possibility of grandchildren.

  • Insatiable appetite, unrelenting hunger
  • Morbid obesity

The list was weird, and kept going.

  •  Skin picking, apnea, speech delays, scoliosis, tooth decay, autism, weak muscles, vision impairments, lethargy, small hands & feet, short stature, seizures, psychosis, high pain tolerance, body temperature irregularities, slow metabolism.

I moved past the bullet points and on to the pages of text, fumbling through unpronounceable medical terminology. I learned that PWS wasn’t hereditary – a small piece of chromosome 15 had broken away – a fluke, a 0.005% chance. Why him? Why us?

Words like locked refrigerators and group homes leapt from the page and into the lump in my throat. Then, like a knife…

  • Life expectancy, 30 years
  • No cure

I looked at my sleeping baby, wondering about his quality of life, then mine and Blake’s lives, too.

That night we were transferred from IU West to Riley Hospital for Children. I looked back at our empty car seat, then ahead to the ambulance we were following, our fragile newborn inside. Exhausted from trying to keep up with the calls and messages from family and friends, Blake created a facebook group, Team Evan, from the Riley NICU waiting room. Hours passed before we were allowed to see him. The visit was brief – Evan was too weak to be handled or even open his eyes. We had nothing with us besides the clothes we were wearing, so we decided to go home and try to rest. Dark, ugly thoughts flooded over me. I do not want this baby, this cannot be our baby. He’s having so much trouble, maybe he won’t make it through the night. That might be for the best, right?

That morning, Blake peeled me off the stairs, where I sat, head in my hands, weeping. He helped me into the car. I don’t want to go, I can’t go, I protested.

We received our visitor passes and scrubbed in. There was a nurse already working in Evan’s room.

“He had a good night, the night nurse only reported two destat episodes.” We were silent, but she smiled. I wondered what she meant by “destat,” but didn’t have the energy to ask.

“Would you like to hold him?”

Not really, but I didn’t want to seem like a bad mom, so I settled into the recliner while she and Blake untangled his wires and tubes. I studied Evan for a long time, running my fingers through his blonde hair, then along his nasal cannula, feeling the dutiful hum of oxygen pumping through. I looked up at Blake looking down at us. “He’s beautiful,” he whispered.

In that moment, a fire lit within me. I don’t want this baby turned into I’ll do whatever it takes.

And ever since then, that’s been our mantra. Whatever it takes.

Christmas came and went. We spent three more weeks in the hospital, enduring a series of x-rays, ultrasounds, an MRI, MRV, EEG, exams we had never heard of, pokes and pricks before Evan was deemed strong enough to come home. A few days later, our pediatrician read us the genetic test results over the phone, confirming our worst fears. Whatever it takes, whatever it takes, we reminded each other.

We started early interventions, sought out the best doctors, and got plugged in to the PWS community. We read updated and promising research articles. Evan started growth hormone therapy, delivered via needle injection every night, to help him grow. Hope blossomed.

Evan is now 7 months old and aside from gross motor delays, he looks and behaves much like any baby his age. He’s inquisitive, social, and starting to get into everything. He lights up our world. His weekly therapies and appointments are well worth the effort. Now that Evan has graduated from his feeding tube and is fairly stable medically, we’re in the “honeymoon phase” of PWS. The insatiable appetite has not yet set in, but that will likely change as he enters early childhood. Each day is a blessing and a burden. Evan is growing stronger, but we are also one day closer to hyperphagia – when Evan’s brain will trick him into thinking he’s starving. All. The. Time.

Although we are encouraged by recent medical advancements, PWS is rare, and research efforts are grossly underfunded. Our hearts ache when we hear about another research study delayed because of lacking funds. We want to see our Evan live life full – not just in his belly, but in all facets of his life. His future depends on this research.

So, in the spirit of whatever it takes, we fundraise. We advocate. We raise awareness. We get loud. And we hope that you will be moved to join us, too.

100% of proceeds from One Small Step walks advance Prader-Willi Research! 

Walk with us, Saturday, September 17, Washington Township Park, Avon, Indiana.

Learn more at Team Evan’s One Small Step Page: https://onesmallstep.fpwr.org/dw/users/teamevan/Avon2016

Learn more about the incredible research your donations are funding: https://www.fpwr.org/fpwr-funded-projects

Follow Evan on his journey by requesting to join his Facebook group, Team Evan: https://www.facebook.com/groups/189983464684763/

Thank you!
Natalie, Blake, & Evan

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Evan, feeding tube graduate!