Wednesday, October 27, 2010

One final irony...

I'm a Chef.

I don't work as one anymore; I stopped soon after Amelia was born. I generally worked in high end restaurants or clubs, or funky little places with fresh, fun food and live music. I've even worked for a large church around the time Amelia was born cooking meals for their daycare (over 100 kids) and their Wednesday/Friday night meals.

Since she's been born, I've hosted cooking with kids playdates, cooking classes with friends and fun meals in general. Best of all, I cook with my daughter (who turned 4 in June) almost every day in some way. I love being in the kitchen with her; she loves smelling, touching and tasting food. Grocery trips with her are a delight. Cooking as a family and home cooked meals every night sitting aroung the table is a given. Extended members of our family are all excellent, creative cooks and my favorite holiday is Thanksgiving - family, food and conversation.

The kitchen is the heart of our home in so many ways. I want to find a way for it to still work that way in the future without putting Olivia in a position to fail. To remove food from this house and from our lives into a background position is almost unthinkable to me.

Prader Willi Syndrome - the ironic illness

First, failure to thrive... then thriving "too well"

First, inability to eat anything at all... then the desire to eat anything and everything, literally

Low muscle tone, extremely slow metabolism... and insatiable hunger.

How cruel is that? I've been told that she will only need half the calories of a normal adult when she matures, and will need to exercise at least an hour a day to maintain a healthy weight without becoming obese.

Now, I set a timer and check the clock to feed her because she never cries to be fed or shows any signs of hunger. In the future, I will set a timer and check the clock to feed her because she will be so hungry she will need to feel secure about when and where her next snack or meal is coming from.

So imagine that you are physically exhausted (because you don't have as much lean muscle mass) and starving to death while your body is processing the food ever so slowly. Every movement you make is an extreme effort - almost as if gravity is fighting against you, yet you still make yourself move rigorously at least an hour a day.

Your hunger gnaws at your insides in that sharp, uncomfortable physical pain. Everywhere you go you are presented with food that you can't eat - at playdates, church, the doctor's office, a friend's house, the grocery store, a restaurant, fall festivals, farmers markets, days in the park. People are constantly offering food as a form of hospitality and community and saying to your parents, "Just this one little bite won't hurt him!" or "It's only one piece of candy!"

You never say no because you want it so badly, hoping just this once your hunger goes away. Your parents say no over and over and over and over again to everyone around you as they offer food you can't have because calorie by calorie, it adds up frightenly quickly. You want to join in as the other kids eat, and have fun. Your siblings begin to have an unhealthy relationship with food as they try not to eat in front of you - they NEED those extra calories. Sometimes your siblings will even hide food to eat in order not to eat in front of you.

All the while, the hunger is growing and crawling and banging at your insides, growling and screaming at you.

All the while you are expected to be social, to smile, to get along well with others, to have the willpower and self discipline to turn away cheerfully when you are told you can't have any more food for that meal or snack.

Remember the hungriest you have ever been in your life - maybe a long day on the road, a busy day at work missing breakfast and lunch, perhaps a day or two of deliberate fasting and prayer. Imagine feeling that way every second of every minute of every day for the rest of your life.

This is what Olivia will be fighting against. I hope you fight with us in your prayers, your advocacy, but most of all, your acceptance of her struggles. She's a sweet little baby girl who will one day just want to be loved and included just like everyone else.

My Deadly Appetite

On Discovery Channel November 3 at 10pm Eastern time will be a show about a boy with Prader Willi Syndrome. I hope it shows their loveable sides as well as their struggles.

Prader Willi Syndrome - the test

Rather quickly after Olivia's birth, I noticed how floppy she was compared to Amelia when she was born. Because of the traumatic events surrounding her birth and the medications she was on, for the first week or so we anxiously waited for the drugs to wear off and her body to stabilize from the shock - hoping that was the reason for the low tone.

It quickly became apparent that was not the case for her. Every day I would look at her in the incubator in the NICU and watch for any signs of movement, sound or tiny bit of progress. They ran test after test on her, trying to find out what the issue might be. I remember the geneticist (Dr. Pai) coming to me and shaking my hand as one of the tests. Apparently one of the possibilities involved a genetic disorder inherited through the mom and a weak handshake would be a positive sign to test further. I found all the information being thrown at me both fascinating and overwhelming at the same time. If all tests came up negative, the diagnosis would be hypotonic cerebral palsy simply by process of elimination, if I remember correctly.

About halfway through our stay, Margaret came to me and mentioned that the geneticist was testing for Prader Willi Syndrome. When she told me that, my heart sank. I knew exactly what it was - I had recently watched a short documentary on some adults with PWS who lived in a house together. For their own safety, the food was locked up, chains were around the freezer and refrigerator and the doors locked them in at night and out of the kitchen. She was slightly surprised I knew what it was, as very few people have heard of it, and told me it was a long shot. The only thing I remember from that conversation is a flippant remark I made..."Well, at least she'll eventually be able to walk!" Up to that point, we thought that Olivia might not ever move much more than she was at the time. I also think I remember her saying, "Whatever you do, don't go and look it up on the internet. Dr. Pai said there is much more current information with positive outcomes and it isn't as bad as it used to be."

So of course I went right to the RM house and looked it up on the internet. The more I read, the more I became sick to my stomach. Every symptom it listed matched. The pictures of the kids looked like Olivia. I knew in my heart that she had it, even while hoping that she didn't and that I was wrong.

There's a remarkable lack of current information on the internet about PWS, with the exception of the PWS organizations. It's not often that you find the internet trailing behind, but to this day Wikipedia still is missing accurate information. I didn't find this out till much later, because my heart was so heavy that I stopped searching the internet a bit too soon to find out what hope was out there. It's still an awful syndrome, but the prognosis is much better than it used to be.

What is Prader-Willi syndrome?
Prader-Willi syndrome (PWS) is the most common known genetic cause of life-threatening obesity in children. Although the cause is complex it results from an abnormality on the 15th chromosome. It occurs in males and females equally and in all races. Prevalence estimates have ranged from 1:8,000 to 1:25,000 with the most likely figure being 1:15,000.
PWS typically causes low muscle tone, short stature if not treated with growth hormone, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity. The food compulsion makes constant supervision necessary. Average IQ is 70, but even those with normal IQs almost all have learning issues. Social and motor deficits also exist. At birth the infant typically has low birth weight for gestation, hypotonia (weak muscles), and difficulty sucking due to the hypotonia which can lead to a diagnosis of failure to thrive. The second stage (“thriving too well”), has a typical onset between the ages of two and five, but can be later. The hyperphagia (extreme unsatisfied drive to consume food) lasts throughout the lifetime. Children with PWS have sweet and loving personalities, but this phase is also characterized by increased appetite, weight control issues, and motor development delays along with some behavior problems and unique medical issues

Weeks later, the test came back negative. When I found out I began crying and hugging Margaret for joy, yet part of me still felt uneasy.

Tuesday, October 26, 2010

Long Time Coming

This time a year ago, Olivia Grace was almost 2 1/2 months old on the day she was supposed to be born. She was still in the hospital, I was still living in the Ronald McDonald House, and Mom and Dad were still living at our house taking care of Amelia. Rafe was settling into his new job, working on EWS and taking care of Amelia at night and then driving to Charleston on the weekends to be with Olivia. I, in turn, drove home to see Amelia.

This time of year is my favorite. I love everything about it - I hit every fall festival, farmer's market, art show, theater in the park, pumpkin patch and outdoor event that I can. Last year, however, it seems that fall never came. It was the height of summer, I had the emergency delivery, and then in a blink it was Christmas.

I only remember a few scenes at this moment from last year. Going to a farmer's market in Beaufort and buying bags and bags of freshly caught shrimp; buying bread and home made cheese from an Italian who slipped me a few extra when he heard about our situation....the short, windy and dreary daily walk from Ronald McDonald house to the hospital, through the corridors and up the elevators to the NICU. Trudging 3-4 times a day to the hospital with my cooler of breast milk to deliver, going back to RM house to eat meals and talk at the table with the other families, and occasionally sitting outside on a bench by the front door of the hospital and eating spinach, feta and tomato pizza. Even now it's somewhat of a irony to me that I lived in Charleston for over 2 months and know intimately the walk from the house to the hospital and not much else. I was very lucky that it wasn't during rainy season and I never had to walk there when the streets were flooded.

There is a lot I don't remember about last year, and other things I remember in excruciating detail. When Livie was born, she could raise her eyebrows but not open her eyes. She could occasionally kick her feet out but very rarely. By October last year, she could open her eyes, occasionally move her head and sometimes move her body a small amount. She had tubes coming out of her, a colostomy and a gtube, but the majority of the tubes had all come out by this time. She was already getting therapy in the hospital. She was still having tests run on her to try and find out what exactly happened to her and what direction we needed to go in next. I can't remember if she was off oxygen and on room air at this point but I don't think so. She still made no sound.

This blog started off as a way for me to share things we were doing with my husband when he deployed. At the time, it was easier for him to access a website than to download pictures and check email. It also became a way to keep in touch with far flung friends and family with busy lives of their own - instead of flooding an inbox with emails and pictures, it's here for those who love us to peruse at their leisure.

When Olivia was born, it was a way for our church and military family to see updates and pictures of the little girl and family they were praying for and helping.

It's going to morph into something else, and be open to more people whose respectful comments are always welcomed. My husband is deployed yet again, and we have a diagnosis for Olivia. Some posts will be of more interest to one group or another. This blog is still a way for me to document our lives... mainly for my husband, our family and friends. It's just that our family got a little larger this past year - we are now also part of the Prader Willi Syndrome family.

And in a not so small way, this blog is for me.