Prayer Will Support PWS Organization

About Prader-Willi Syndrome- PWS

Prader-Willi is pronounced:  "Praw-der"-"Wil-lee"

May is Prader-Willi Syndrome Awareness Month




How your donations are working for PWS

Here's a summary in how your donations are used for PWS research.  The support and research endowment funds raised in 2011, dedicated for PWS research has allowed doctors to continue recruitment of a laboratory manager and research associate for the summer of 2012 to undertake research activities in the laboratory setting. The funds will support personnel costs and laboratory supplies needed for genetic testing and investigations on the molecular genetic causes of PWS and genotype-phenotype correlations.  They have used this funding to purchase nucleic acid (DNA/RNA) isolation kits and supplies for DNA copy number studies (deletions/duplications of the genome); gene expression studies to probe the genes for hyperphagia in obesity related disorders such as PWS and fragile X syndrome; cell culture media and reagents to establish cell lines from obese and PWS subjects for genetic testing; purchase standardized meals for our startle response/modulation study of individuals with PWS and controls when examining food and non-food computer images before and after eating the standardized meal to examine the eating circuitry of the brain and lack of satiation to generate potentially new areas of treatment of the hyperphagia common in most individuals with PWS; and use for general laboratory supplies when needed to conduct investigations and research focused around the genetics of PWS and obesity in the general population.
In conclusion, the above selected items were important and partially funded by the generous donations to the doctors research program on PWS.

A Day in our Shoes: Our Smiley Kyleigh

A Day in our Shoes: Our Smiley Kyleigh

            "I wanna eat!"

            I open my eyes groggily and look across the room at my alarm clock...5:30AM. I slowly crawl out of bed and see my beautiful, brown-eyed girl sitting up in her bed waiting for me to unlock the gate across her doorway that keeps her safe at  night (for now) so she won't sneak food while we're asleep. Sleeping-in while having a four-year-old with Prader-Willi Syndrome is non-existent as she wakes up each morning beginning her day with the sensation of hunger that never subsides.

            We go to the kitchen and I talk with Kyleigh about what she wants for breakfast as I prepare it for her. Through this journey, I have learned that talking about it with her as I prepare it seems to reduce the tantrums and anxiety about waiting for her meal. As a person who struggles with weight and food herself, I never imagined I would have to count calories and watch what my preschooler ate (which actually began when she was drinking her bottles as an infant). Sometimes I worry about God giving her to me since I struggle with food myself and now I'm responsible for making sure my four-year-old doesn't become obese while being restricted to 850 calories a day that she can't burn off well due to slow metabolism. But, I keep telling myself that God doesn't give you more than you can handle, try my best, and take one day at a time.

            As soon as she is done eating breakfast, Kyleigh brings her dishes over to me at the sink and is already saying she's ready to eat again. I try to redirect her by asking her what she would like to play and lead her to her toys. Constant redirection is a big part of our day as she frequently complains of being hungry and saying she's ready to eat. It kills me to think about how she must be be starving all day, never feel full, and there isn't anything I can do as her mother to take that suffering away from her. I would trade her places in a heartbeat.

            While playing, no matter how many times we switch activities, keeping her mind off of being hungry is a challenge. I never thought about how much food is EVERYWHERE until having a child with PWS...commercials on TV, pictures in coloring books, advertisements on the radio, examples in math problems, people eating food from concession stands while we're at a baseball game, moms giving their children a snack in the waiting room at the doctor's office, passing by people having a conversation about food, and the list goes on. Tears, fits, and screaming are a regular part of our day if she is not given food when she wants it. The past few months, we have learned that setting a timer for the next meal helps reduce the tantrums. Luckily, so we found a red magnetic timer (her favorite color) that stays on the refrigerator and when she cries for her next meal, we set it together so she can watch as the numbers count down. Some days are better than others and we have not learned why or noticed a pattern yet...we just keep praying for a cure.

            Our day continues with playing, setting timers to the next meal time, and keeping a close eye on her every move. No food can be left out on the counters because she will find a way to get it (even if it means standing on daddy's case of Diet Mt. Dew to reach it)! Everything still goes in her mouth and I haven't figured out if this is because of the PWS or due to that fact that she is developmentally behind. Maybe a mixture of both. We have caught her eating lotion, deodorant, and trying to dig in the trash can. You absolutely CAN NOT leave her unattended...not even to use the restroom. Where you go, she goes. Where she goes, you go (especially in or near the kitchen, which unfortunately is right off of our living plain view).

            Kitchens in most homes are viewed as a warm place of bonding while you cook meals together and eat as a family, but for the Ellington's it's the most dangerous place in the house. No food is in the lower cabinets, nothing can be left on the counters, every crumb has to be off of the floor, and the refrigerator must be in sight at all times when we're in that area. When she was younger, the refrigerator didn't pose as much of a threat because she couldn't open it. Now that she's strong enough to open it and is figuring out more sneaky ways of getting food, it can be a deadly weapon.

            No matter how much we spread awareness, it seems most people don't seem to understand just how dangerous it is if she would get access to food. "I must have Prader-Willi too because I'm hungry all the time!" I can't count how many times people have said that when we tell them about her and I want to scream! Yes, some of us have issues with food and feel hungry BUT we feel full after eating so much food AND we can throw up if we eat too much. Individuals with Prader-Willi can NEVER nor WILL EVER feel full and they cannot throw up if they eat too much. They will just continue eating until their death.  I shudder at the thought of what could happen with one careless mistake by us or while she is with someone else. I feel I have become a paranoid freak about leaving her with anyone because their house isn't "Prader-Willi proof," which makes outings alone as a married couple very difficult when you only have a few houses you feel comfortable leaving her at. Thank goodness for a supportive family!


            Our evenings start winding down after supper, which has to be at about the same time each night or you don't want to be in our little yellow house at 5:30PM! After supper we play for a little and listen for her to say, "I wanna take a nap" around 7:00PM. We read her a story, kiss her goodnight, and thank God that He blessed us with such a happy, beautiful girl to call our little miracle. While she comes with many challenges and has her moments, she has a way of lighting up every room she enters. Just thinking about her giggle, the way she tries to sing songs on the radio, and her dance moves makes my heart glow. She doesn't know a stranger and you better watch out if you're a male because I've never seen such a boy crazy little girl! I know God has special plans for her and I tear up thinking about how much she has progressed over the years. Since she was a baby going through challenges of low muscle tone, delayed milestones, she has always been a fighter...and so have we. Every milestone she reaches is like saying, "Take that PWS!" And we'll continue fighting...because we will not let it win. 

Our Miracle Baby

                 Before my husband and I had our beautiful daughter, we had never heard of Prader-Willi Syndrome (PWS) and had no idea how it affected PWS individuals and their families. We are writing about our story to help inform others and hopefully reach out to those that know what it is like to raise a child or have a loved one with PWS.

                Growing up around a large family, I have always had a love for children. Everyone in my family always told me that if there was a baby around, I had it. Because of my nurturing passion for kids, I went to college and graduated with a degree in Early Childhood and Elementary Education. My husband and I decided to wait until after I completed my first year of teaching before we tried to have kids. I waited (very impatiently) until May 2009. I got the “What to Expect” book and did everything it recommended to do before you start trying to have a baby (going to the dentist, going to the doctor, beginning to take prenatal vitamins three months before you conceive, etc… ). In September, my husband and I were ecstatic to learn that we would be expecting our first child in June 2010. We began looking through name books, taking parenting classes, and went to OB appointments regularly. I was one of the lucky women who never had much morning sickness and did not have any problems throughout my pregnancy. Everything seemed to be going well. I remember the midwife asking, “Is the baby moving around a lot?” Since it was my first child, I wasn’t sure how much they were supposed to move. I always felt her every day, but often questioned if it was enough. The midwife reassured me that as long as I was feeling her around the same times every day (and I was), everything was fine.

                Months passed and my husband I grew more impatient for her arrival (especially after seeing her beautiful face during the 3D/4D sonogram). She had my nose and my husband’s long legs! We had several baby showers, prepared her room, washed clothes, and shopped for baby furniture. We felt prepared for her to come at any moment. Although we felt prepared getting things ready at home, we never could have prepared ourselves for what happened when she arrived.

                After visiting with some friends one day, I was getting worried when I hadn’t felt the baby move at all. I called a nurse and she told me to get out of the heat, lie down on the couch, eat something, and poke my belly around. After trying all those things and still not feeling any movement, I became even more worried than I already was. I called my husband and told him I thought we needed to go to the ER. The entire way to the hospital, I prayed for God to let her be alright. When we got to the emergency room, we had to wait forever to get in because a lady with ringworm was in front of me. It took everything I had not to say, “Ring worm?! Really? I don’t know if my baby is alive and you’re treating someone with ring worm right now?!!” Eventually they finally got us in and hooked me up to do a stress test on the baby. After monitoring me for several hours, the baby still wasn’t responding the way she should. My husband and I were crushed… You never imagine anything going wrong when you’re pregnant. Especially when you have done everything by the book to ensure that your baby is healthy.

                They admitted me into the hospital and my husband drove home to get our things. My mother-in-law came to stay with us and we all tried not to worry about what could be wrong. The nurse came in and said the baby was starting to get more active and things seemed fine. I went to bed feeling reassured. However, I was woken up in the morning by the nurse telling me that the baby’s heart rate had dipped down really low a few times. She said they were going to do a biophysical test, which measures the baby’s movement, breathing, and other things. It gives the baby a score out of 10 points. When they hooked me up for biophysical and the technician began the sonogram, I could tell something was wrong. The baby wasn’t moving much on the screen. The technician went out to talk to the doctor and before we knew it my husband and I were given two choices: do a c-section or let them induce me, but that could take days and they didn’t know if the baby would make it that long. I obviously chose to do the c-section. Within the hour, I was being taken into surgery. I have never cried more in my entire life. I was scared for my baby, scared for the surgery, scared that my husband couldn’t be in with me for the first thirty minutes in the operation room, and although I was 25 years old…I wanted my mom (who hadn’t been able to arrive yet).

                They gave me a spinal tap and allowed my husband to come into the operating room. I felt a lot of pulling and tugging, but no pain. To tell you the truth, I couldn’t focus on anything because I was worried about the baby. I kept looking into my husband’s watery eyes and trying to convince myself to believe him when he said everything would be alright.

                 I will never forget how relieved I felt when I heard our daughter cry. My husband and I both began to sob tears of relief and joy that she had made it out alive. I expected it to be like “A Baby Story” where they would clean her up and bring her over to me while I got stitched up. However, they let me look at her and took her away into another room with my husband. I didn’t want my husband to leave, but the image of my beautiful little girl made things easier.  I never knew how much you could love someone until I became a mother. I love my husband, but having a child is a different kind of love.

                 After coming out of the recovery room, I was sent back to my room to rest. When I got there, my husband told me that our daughter was in the NICU because she was having difficulties eating, her platelets were low, and her blood sugar was low. They wouldn’t let me see her because she couldn’t leave the NICU and I wasn’t supposed to get up and move for several hours. Our daughter was born at 12:02PM and I didn’t get to hold her until 8:00PM. It was the longest eight hours of my life. When they wheeled me into the NICU, I started bawling seeing her hooked up to all of the wires. She looked so small. She didn’t open her eyes, move, or cry. The nurses took blood from her and she didn’t even cry. I started crying harder and saying, “Why isn’t she crying?! Babies would normally cry when they get stuck in the foot!” At that point, I became angry. Angry with myself thinking that maybe I could have done something more so that this wouldn’t have happened to her, but most of all angry with God. All of these questions kept running through my head…Why is He putting such a beautiful baby through so much? What did I do wrong? Why are there people out there who have perfectly healthy babies and don’t want them, but yet we have waited for so long to have one and she has to go through this? I held her until they said I needed to go rest again and tried to fall asleep back in my room.

                 The next morning, I was woken up by the nurse saying, “We need to talk to you about your baby…” My heart sank and I screamed at my husband to wake up. I thought we lost her. The nurse took us down to the NICU where she explained that our daughter still wasn’t progressing the way they would like her to and would be transferred to Children’s Mercy Hospital. Words cannot explain how heartbroken and scared I was for my newborn baby that I had waited so long to have.

                  The next two days were the longest days of my life. My husband stayed down at Children’s Mercy with our daughter, but due to me having a c-section I was not able to leave. The nurses in the NICU at Mercy were probably tired of me because I called several times a day to see how she was. Her platelets were extremely low and they thought she was going to have to have a transfusion, but I prayed like crazy and God answered my prayers. Her platelets rose and she ended up not having to have the transfusion. They told me she slept all the time and was being fed through an IV because she wouldn’t take anything by mouth. I kept hoping that maybe she was just off to a rough start and things would get better. Little did I know that was only the beginning…

                    Once I was finally discharged from the hospital, we headed straight down to Children’s Mercy where they let us stay in the Ronald McDonald house. I never realized how great Children’s Mercy and the Ronald McDonald house were until we had to stay there for almost a month. The nurses were great and let us stay in the NICU with our daughter as long as we wanted. My husband and I stayed there nearly all day reading her books, doing Kangaroo care, learning how to do her therapies, and praying that she would improve.

                    Our daughter was diagnosed with Prader-Willi Syndrome at a week old and had surgery to put a g-tube in at three weeks due to her difficulties with feeding by mouth. It felt like a nightmare that I wasn’t waking up from. The doctors advised us not to read about PWS on the internet because of all of the misleading information, but it was hard not to. As soon as we found out, my husband and I went and got a ton of books from the Children’s Mercy library about it and searched the internet (even though they told us not to). My husband was really good about reading the information and appearing strong about it. He was always so supportive and there were times I envied him for how he could be so strong. I could not have done it without him. Every time I tried to read the information, I burst into tears. It took me a couple months before I was mentally strong enough to accept our new reality and even now there are times when I still break down.

                   Once our daughter was discharged from Mercy, it was great to have her home with us where we could enjoy her without all of the wires and machines. At the same time, I kind of missed them because at least then I knew what her oxygen, heart rate, blood pressure, and temperature was. I was a nervous wreck about everything… I was constantly checking to see if she was breathing while she slept, took her temperature several times each day, and didn’t let many people hold her in fear that they would let her head flop over. Aside from the constant worrying, she was an easy newborn to take care of because of the PWS characteristics. She slept all the time (even throughout the night) and she never cried. My husband and I joke all of the time that we’re not sure if we can have any more children because we won’t know what to do with a baby who cries all of the time and wakes up several times throughout the night!

                   Week by week, our daughter got stronger and started to stay awake more. Children’s Mercy was really great about setting us up with First Steps so she began receiving physical and occupational therapy once a week shortly after we arrived home with her. Those services have done wonders for our daughter. Our PT/OT shows us exercises to do with her and has helped us learn different strategies to help her eat with a bottle. She now averages around 3oz. by mouth per feeding, but the rest is still run through her feeding tube. She has been meeting all of her cognitive goals, but is developmentally behind for her age in motor skills due to her low muscle tone. However, she is meeting them slowly.

                    Our daughter will be nine months old at the end of the month and is the most beautiful thing I have ever seen. Although it was an emotional few months at the beginning, I would never trade her for anything in the world. Through lots of love, therapy, prayers, and the work of God she has done great and we have gotten good reports at our last several appointments. She will begin growth hormones this week, which will hopefully help her muscle tone and growth. While I worry about all the struggles she will have to face in the future, I try to live in the moment and enjoy what a happy, beautiful little girl we have been blessed with. One thing this whole experience has made me realize is you have to be thankful for what you have and appreciate every little thing. Most parents wouldn’t get excited about their child drinking from a bottle, but we do. The best way I know how to describe having a special needs child is to describe it through a poem that a friend from work gave to me when we first got home with our daughter. It is called, “Welcome to Holland.” I get choked up every time I read it, but it’s like this…

                  “When you're going to have a baby, it's like planning a fabulous vacation trip to Italy.  You buy a bunch of guidebooks and make your wonderful plans. The Coliseum.  The Michelangelo David.  The gondolas in Venice.  You may learn some handy phrases in Italian.  It's all very exciting.

                   After months of eager anticipation, the day finally arrives.  You pack your bags and off you go.  Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland." "Holland?!?" you say. "What do you mean Holland?? I signed up for Italy!  I'm supposed to be in Italy.  All my life I've dreamed of going to Italy."

                   But there's been a change in the flight plan.  They've landed in Holland and there you must stay.  The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease.  It's just a different place. So you must go out and buy new guide books. And you must learn a whole new language.  And you will meet a whole new group of people you would never have met.

                    It’s just a different place.  It's slower-paced than Italy, less flashy than Italy.  But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips.  Holland even has Rembrandts.

                    But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there.  And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned." And the pain of that will never, ever, ever, ever  go away... because the loss of that dream is a very very significant loss. But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things... about Holland.” –By Emily Perl Kingsley



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