Prader-Willi California Foundation

@praderwillicaliforniafoundation | partner
Prader-Willi syndrome is a rare genetic disorder. It causes many symptoms including its hallmark symptoms: an insatiable appetite no matter how much food is eaten, and behavior problems similar to but often more severe than Autism. With early diagnosis, appropriate medical and therapeutic interventions, and continuous support, the prognosis for children with PWS is improving. Prader-Willi California Foundation provides individuals with PWS, their families, and the professionals who serve them with education, support, research opportunities, and advocacy services. The diagnosis of Prader-Willi syndrome can be devastating, but PWCF is dedicated to improving the quality of life of all who are impacted by PWS. Our vision is that persons with PWS will live full lives without limits. Help us make the miracles our children need.

To the Geneticist Who Knows a Condition but Not My Son

I arrived at my son’s Genetics 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-old kids, you can imagine this was not going well. Finally, the door swung open, but you were mid-conversation with the team of people behind you. “…He’s classic PWS. You’ll notice the narrowed bifrontal diameter — ” you stopped as you looked at my son Evan, who was smiling mischievously as he pulled an otoscope cord out of its outlet for the millionth time, “Well, perhaps the facial abnormalities aren’t as severe as I remember.” That’s right. I thought. He actually looks a lot like his uncle Jeff. And his dad. You took your rolling seat as others crammed into the tiny room. “So,” you slapped your hands on your knees and leaned forward, 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.” I recognize this wasn’t the most eloquent response, but in my defense, your greeting wasn’t exactly welcoming. You waved one hand behind you, arbitrarily introducing the people in the room — the resident, medical students, two nurses, a nutritionist. I didn’t recognize any of them from our first appointment, but I suppose rare diagnoses might attract a crowd. Everyone, come look at the kid who is missing a hunk of his 15th chromosome! After confirming Evan’s height, weight, and current medications, you reminded me about parts of his Prader-Willi diagnosis — the insatiable hunger and accompanying behavior issues. 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. “He’s making great progress. Physical therapy is going well. He’s hitting many of his milestones — ” I protested. You continued, seemingly uninterested. There didn’t seem to be room for good news. You acted surprised when Evan kept interrupting, “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 the paper he ripped off the table lining. I nodded and smiled back at him. I explained we receive exceptional care through our endocrinologist and the rest of our medical team, to which you replied, “They get paid a lot of money to write scripts.” Cue eye roll. 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 colorful words. The point is, no amount of research or a PhD qualifies you to determine what my son is going to be like. He’ll decide. While I recognize the value of being well educated and realistic about my son’s condition, I see greater value in getting to know him as the individual he is. You know what the textbooks say. You know more about the chromosomes and the clinical side of this diagnosis, but you do not know Evan. The 14 genes he’s missing affect him profoundly, but the other 24,986-plus healthy, active genes are uniquely his. There is no greater pleasure than getting to know him. He surprises me every day. We don’t plan to be back to your office. We want to hear your story. Become a Mighty contributor here . Thinkstock image by PhotoBylove

What It Feels Like to Parent a Child With a Rare Disease

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 twentieth 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 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 can be 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 I will likely break. Rare disease can be 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 often 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 can be inconvenient. As I leave the store, I see how well a baby girl supports herself upright on her mother’s hip. Jealousy hits again. 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 can feel 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 a rare disease. I see my son – a happy, determined little boy. And I remember it’s all worth it. We want to hear your story. Become a Mighty contributor here .

Jessica Patay

How to Deal With Hyperphagia in Prader-Willi Syndrome

The air he breathes. It’s his very own. It’s not like yours and mine. He thinks about it. All the time. Our air gives us life and breath and oxygen and helps us grow. His air could lead to death. In Prader-Willi syndrome, at some point in childhood, hyperphagia sets in. Hyperphagia is experienced as a chronic hunger, or never feeling full. It’s an obsession with food, which leads to excessive overeating, and a host of medical issues, if not carefully supervised. Children and adults with PWS die every year from choking to death, and from ruptured stomachs due to eating binges. It could look like this: A 5-year-old who sneaks into the pantry in the quiet of the night and opens all the cans. And eats. And eats. The kid at elementary school who takes a look into others’ lunchboxes and takes their food. The teenager who steals money from her parents to use the vending machine at school when no one is watching her for 20 seconds. Jessica’s son. It could be my 11-year-old who was eyeing Luke and Kate’s food as they packed their school lunch bag, or prepared some breakfast. I’ve had to become the Kitchen Bodyguard, a role I never fathomed would be mine. I want to describe a week in our life with Ryan, where his food drive went from zero to 60 overnight. We had this 7-day “episode” of intense hyperphagia, and then his food preoccupation returned to as it was. We have always kept a food schedule, watched his diet, and made adaptations along the way, as his food interest has increased. He has become more and more preoccupied with food, but it’s been manageable. It’s been a slow burn. Yet, what I will describe is not uncommon in the daily lives of most persons with PWS. One Sunday morning, all Ryan wanted was food. He was already a bit out of sorts (due to illness and the house remodel), so it was very difficult to use logic and the clock to explain when and what he would eat. I did my best to hold off and risked his aggression for not adhering to his demands and requests. I accelerated the schedule, but did not give in, no matter how much he told me he was hungry. Nothing could distract him. Not the TV, the iPad, reading, his workbooks, music, the backyard swing, nothing. In his state of mind and with his fragility, I couldn’t leave home with him. If he wasn’t sleeping or crying, Ryan was asking for food. Monday morning, he woke up in the same mindset. With coaxing and cajoling to do his before-breakfast-routine first, he did get to breakfast time. I gave him the usual choices and portions. Then he wanted to eat his snack and lunch. Right then. I had to talk him “off the ledge.” He got mad when Luke or Kate were eating their breakfast and he wanted more. He starting to become aggressive, so I had my husband watch him while I scooted out with Luke to get him to school. When I returned, he kept asking me to give him his lunch. I had already taken it out of his backpack, so he couldn’t get at it. I relented and gave it to him because his agitation was rising and I really did not know what to do. This was new territory. He ate his entire lunch box contents in less than five minutes. It’s a wonder he didn’t choke he inhaled it so fast. We are used to Ryan inhaling his food, but this was an all-new pace. It felt frightening to watch Prader-Willi have such a hold on my son. After he left for school with the help of school staff, I called my friend and mentor, Lisa Graziano, at the Prader-Willi California Foundation. I am sure she receives hundreds of these calls, yet she always makes you feel listened to, and doles out her expertise with such patience and a calm disposition. Lisa reminded me, “Food is like air to them. You cannot take it away.” She let me know “the natural consequences that he ate his lunchbox before school, and therefore doesn’t get anything else till his afternoon snack, will not work.” (Consequences aren’t often effective in children with PWS anyway.) She told me I must bring to school the same lunch, nothing special, but exactly as packed before. And I was to lower the calories rest of day. Kids with PWS have low metabolism, so their diet must be regulated carefully. So, you are hungry all the time, and you get less than everyone else, that sounds like a winning combo double whammy. Vent over. Lisa also reminded me to never give food outside of the schedule. Although it seemed like I was pacifying Ryan’s anxiety, it actually increased his anxiety. When you give extra food, you are showing them there is no schedule to rely upon, and to give them “food security” as we call it in PWS-land. Kitchen Bodyguard was my role the rest of that week. I put spiral combination locks from Rite-Aid on the fridge and pantry. Ryan was not happy about this, but I kept telling him it because I cared for him and wanted to protect him. All of it was for him. If I was prepping food, I had another adult there to stand watch. I thought about all the PWS moms, dads and caregivers out there who have been dealing with this level of intensity for their child’s desire for food. Think about how many times a day you open the pantry and fridge, especially if you have other children to care for. Not to mention play-dates, parties, family get-togethers. I joked we would all lose weight because we just didn’t want to bother with the locks so many times a day. I seriously wondered if this was going to stabilize, or if this was going to be the new normal with Ryan. By Monday night, Ryan’s cold and cough were completely resolved. And therefore, Ryan was returned to us. Just like that. It was over. I know it sounds difficult to believe, but it’s true. His food drive was just as it was before the crisis, manageable. I kept the locks positioned in the kitchen for the next few days, just to be sure. The intense obsession faded, and my job as Kitchen Bodyguard was shelved. And what must it feel like for Ryan and all persons living with PWS and struggling with insatiable hunger? How does it feel to them to worry constantly whether they will get their daily meals and snacks without interruptions or changes? We can easily imagine the anxiety and panic we’d feel if we were short of breath or suffocating. So, if we can imagine that food equals air to those with PWS for just a moment, we can see the struggle they must face with every breath. Follow this journey on Jessica Patay

Casey O'Brien

Being Diagnosed Later in Life With Mast Cell Activation Disorder

I am 4 years old. I am swimming in the ocean at a family reunion, and everything is beautiful and blue. I have just learned to swim and I feel triumphant — until a rip tide comes in and holds me to the sand with intense force. I am too small to reach to the sky above me. I am already underweight by then, and there simply isn’t enough of me to fight the tide. I am rescued by a kind, distant relative who happens to notice me. It is the first time I recognize my own mortality. I am terrified. I am 5 years old, playing in the woods by my house. I am wild and free, and covered in dirt. I am completely in awe, and I don’t ever want to leave. The next week, I will be hospitalized because I am dangerously sick. I will be measured and poked and prodded. A big woman will make me pee in a cup. I will cry once, but then I will accept that apparently, this is what I do now. I am 12 years old. My sixth grade class is doing trail restoration. I revel in the sunshine and the sweat and the break from classrooms. The anxiety disorder that often dominates my days at that age doesn’t take hold that day, and everything seems balanced in my world. The next day, I develop a rash that turns into such a severe case of poison oak, I am put on intense steroids and miss the next week of school. I do not enjoy the break from the classroom that time. My parents sigh. They always knew my body was sensitive. I am taken to the doctor where I demand to know if I will still be allowed to go hiking. The doctor begrudgingly says yes, but I have to stick to wide trails. Wide trails are full of people and noise. I sob at home in my little blue room, because I need deep wilderness as much as I need those medications. I am 14 years old. I have a Facebook account for the first time. I utilize it mostly to complain that I am stuck home in bed. At the time, we think this is just because I have a weak immune system and keep catching the flu. We are wrong. I am 16. I apply for an internship at the Marin Headlands, a wilderness area near my home, where I would teach children about science and green spaces and national parks. I am accepted. I love my job  and I am proud of it. One day as I guide a group of children through a game about the water system, I trip and my ankle gives out. I cannot get up again and have to be half-carried to a car that delivers me home.  I attend physical therapy for months. We add “weak ligaments” to my growing laundry list of problems. I start displaying other, stranger symptoms; no one knows why. My body erupts in red flushes and I shake violently, even with the heat on. I am not angry or sad anymore, just numb with fear and fever. They talk about Lyme disease and cancer in hushed voices. It is neither. I wish for a diagnosis as hard as I wish for my first kiss. I get the second, not the first. I am 17. It is my senior year of high school. This year is going to go right for me, I have decided. I have willed the end to the endless blood tests and confused doctors. I will get better, by sheer determination alone — if the doctors cannot help me,  I will help myself. I don’t, yet. I pray fervently. I miss about half my senior year. Kids at school think I’m cutting class. I read the books from my bed and dream of the forest. I am 18. I have been diagnosed with mast cell activation disorder. No one has heard of it, and I do not fully understand it. But at least it is a diagnosis, and with it comes medication.  It is a beginning. I am starting college, and my university runs an outdoor immersion program I am excited about. My disease flares, and I cannot go backpacking. But I go on an overnight canoe trip instead, and I realize all over again how powerful a hold the natural world has on me. I watch seals play and see a bald eagle. I feel reborn in the Northwest. I am 20. This time I am leading the outdoor immersion program, and for the first time I will lead a backpacking trip in the wilderness. I am scared and excited. I plan every detail. The day before we are set to leave, I have a flare of symptoms and my blood pressure shoots to 140/90. I am sent home in an inky night, holding back my sadness until I have time to let it wash across me. At home, I lay in my bed, weeping, aching for the trees, for my co-lead, for the experience of sharing the wilderness with others. I sleep in my housemate’s bed because I do not want to be alone. I am still 20, and I am fighting. It is two weeks later. I am better, for now. Inevitably, the bad days will come back, but right now, it is the middle of September, and summer is still lingering. My friend asks if I want to go backpacking with him, maybe take the trail I missed. I pack my clothes and bowl and sunscreen, and I escape. I realize for the hundredth time, no matter how many days I spend in my bed, I will keep rising. I will get up again, and I will hit the trails, hit the water, climb the trees and lounge on the sand. I will build a lifetime of memories of dirt and rain and sleeping under the stars. I will thank my body for the good days, and turn my face to the sun.