Guest Post: When HUNGER is not just a game

Today, I am so pleased to have Susanne contributing to One Beautiful Life.

Susanne and I share not only similar experiences, but great taste in names as well. I met her and her two children, Jakob and Ellie at Jakob’s old school. Her Jakob was entering kindergarten as my Jakob was going into grade one.

Friends, this woman is passionate, talented and an amazing advocate for Prader-Willi Syndrome, a genetic disorder that occurs in 1 out of 15000 births! Below is a bit of her journey. Please read and share to support Prader-Willi Awareness month. Enjoy!

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Our journey through the world of special needs started three years ago, on April 22, 2011, when our daughter Ellie came into the world, 8 weeks early, and a teeny 3lbs even. At first, the doctors thought that Ellie was just a typical preemie, and that her early birth and my pregnancy complications were the result of a shoddy placenta. In my heart, from the moment I saw her, probably even before she was born, I knew she was different. Friends and family told me she just needed time. I wasn’t so sure time would turn my floppy baby into a thriving newborn.

When she was a couple weeks old, we were transferred from BCCH, to St. Paul’s NICU. It was there, in the quiet stillness of the pumping room, that I first read a little book about a child having a sibling with Down syndrome. Until this point, Ellie had never opened her eyes, and she slept 24 hours a day. When she finally opened her eyes for the first time, I thought for sure DS was the diagnosis we were facing. I could handle this. I grew up with a girl with DS. She is awesome. I could totally handle this.

The doctors, however, maintained that maybe she just had low tone. They did metabolic testing, an mri, and so much blood work. No one ever mentioned any genetic testing, so I thought maybe they were right; maybe my baby was typical. Little did I know, they had sent off testing, and a few weeks later, the doctor came in and made the declaration “I was right! She doesn’t have Down syndrome. 46xx, totally typical baby girl”. I was seething mad that they had tested her without consulting us, mostly because it would have been awesome to know I wasn’t the only person thinking something was up with her.

With no diagnosis, they left us for a few more weeks of feeding and growing. Ellie still didn’t wake up, other than at bath time. Her due date came and went, babies were born and went home, and still we stayed there, stuck in limbo at the NICU. We were no closer to an answer as to why she wouldn’t feed on her own, or why she never cried. It was so frustrating.

Finally, we were transferred back to BCCH. It was there, that they really started looking at her. Genetics and neurology ran countless tests, while Dr. Google combined with my obsessive chart reading brought us all to the same conclusion: Ellie likely had Prader-Willi syndrome. At 63 days, we went home, armed with feeding tube, resuscitation, and vitals monitoring training.

It would take another two months to confirm the diagnosis. The call came on a Friday afternoon, and dropped like a bomb shell on my heart. I had begged, and pleaded and prayed for it to be anything but PWS. But, it was what it was, and it is what it is.

Prader-Willi syndrome is a micro-deletion on the 15^th chromosome. It happens by chance, 1 in 15000 births, and there is no prenatal testing available for it. PWS is a spectrum disorder, affecting all aspects of development. The defining symptom is an insatiable appetite, a never-ending hunger, coupled with a slow metabolism that means Ellie can only eat half of what a typical child can eat. Fighting obesity will be a life-time battle for us. There is no treatment for the hunger.

Ellie is growth hormone deficient, so she gets a daily injection of synthetic growth hormone to help her grow, to help with body composition (more muscle, less fat) and brain development. She takes synthetic thyroid meds, and uses a bipap ventilator at night to deal with complex sleep apnea. In her first year, we spent 7 months in hospital and now, because of these issues, we have nurses six nights a week, watching Ellie as she sleep to ensure the mask doesn’t slip or need to be taken off in an emergency.

She has dealt with conductive hearing loss, and is going in for her second set of tubes, and adenoid removal in a couple weeks. Oh, and she has the most awesome glasses!

The food in our pantry is out of reach, and Ellie cannot open the fridge. When that day comes, we will install an alarm on our kitchen door, and keep it closed at all times. Ellie can never be left alone around food. Not ever. People with PWS will literally eat themselves to death. She will likely never be able to live independently, and she cannot have children.

It is scary. But you know what? I can totally handle this. It’s amazing the potential we all have within us; sometimes it just takes some adversity to bring it out. I get asked all the time how we handle things. You just do!

Ellie is the light of our lives. She is AMAZING! With every “she will never” the doctors told us, she has responded with “Yes, I will!”. She walks, runs, talks, swims, and does everything her peers would do. She is so friendly and affectionate, she wants nothing more than to hug people and make them feel loved. She is obsessed with babies, animals and boys. She works so hard to achieve her goals, and we are all so, so proud when she finally does. She may have PWS, but she is not PWS. It does not define her.

There is no cure for the Hunger. There is nothing I can do when she cried “Ellie eat, Ellie eat”, over and over again, because her brain doesn’t get the signal that she’s had enough to eat. As PWS is a rare disease, government and big pharmaceutical research funding is practically non-existent. Research is the only way to end the Hunger.

A few years ago, some families came together to create the Foundation for Prader-Willi research. Since then, annual fundraising walks, called One SMALL Step, are held in over 50 cities around the world. I will be hosting my third annual walk, on August 10^th, at Centennial Beach in Tsawwassen. The walks are a great way of raising awareness in the community, and are huge for raising research funds. Since our family started fundraising, we have raised $40,950! You should totally come, and bring your friends! https://onesmallstep.fpwr.org/dw/walking/location/927

I also fundraise throughout the year through my home-based cookie shop, Sweet Ellie Belle Cookies ( www.facebook.com/sweetelliebellecookies ). I get asked ALL the time, how I can have a cookie shop with a little girl who wants to eat all the time. My answer: this is our normal. I always have cookies on the go, and we next to never eat them ourselves. I still keep them out of reach, but she doesn’t even ask if she can have any. Neither does my son, Jakob. They know my cookies are to raise money, and make other people happy, and it works! I am not taking many orders over the summer, as I will be focused on planning the walk, but come the fall I will be cranking them out again! Keep us in mind if you’re planning a party!

May is PWS awareness month. If I could ask one thing of your readers, it would be to spread the word. When you feel the rumble in your stomach that tells you you’re hungry, think of Ellie, who feels that every waking minute, and tell the person next to you about Prader-Willi syndrome!