On the last day of May, I want to share a special video with you. It captures our journey perfectly.
I can't say enough about the songs. Both songs mean so much to us. We were blessed to see Casting Crowns and Laura Story in concert recently, and I was so overcome with emotion when I heard each of these songs. The first one, "Be Held" shows the great love of our Father. I love the line, "Your world's not falling apart, it's falling into place." Honestly, in those first days and months we felt like our world had come crashing down. But this song so beautifully reminds me that, it is most definitely falling into place.
The second song, "Blessings" elicits so many emotions in me. Our dear friends created a CD for us to listen to on our drive to Greenwood Genetics Center, the first time we were to talk with them about Ellie's test results...this was the first song on the CD...it means so much. I was sitting in church about a month after Ellie's diagnosis and someone again sang this song…everytime I hear it, I am moved to tears.
Enjoy it, share it, love it. Thank you for reading my blog and all the posts. It has been a wonderful month, sharing with you. I will continue to write, fight and trust our journey.
Dear Ellie...
https://vimeo.com/m/96960405
Thank you to Casting Crowns and Laura Story, for your enormous talent, passionate love for the Lord, and amazing lyrics…they have helped us heal, and provided peace and hope.
Thank you to Faith Gaskins…she is the rock-star producer and creator of this wonderful video. Love you!
Saturday, May 31, 2014
Friday, May 30, 2014
Community
Instant love, encouragement, and hope...this embodies the PWS community.
David and I knew early on, that we wanted to reach out and connect with other families on our same journey. We wanted to make sure that we remained positive, yet realistic. We yearned to connect with families experiencing our same joys, struggles, challenges and heartache.
We began by reaching out to our special needs community in Spartanburg called Family Connections. I was paired with a Support Parent who was so sweet and helpful. Then through Greenwood Genetics Center, we were connected with local family in the area who had an older child with PWS. They are our angel family...this sweet momma spent many hours talking with me on the phone, they drove to our house to meet us and love on our Ellie. and they cheered us on as we began our journey with PWS. David and I were so nervous as we prepared to meet them for the first time...it was simply amazing, encouraging, and exactly what we needed at that moment.
We dove into the PWS community from that point forward, and have never looked back. We hosted our first One SMALL Step walk for PWS Research when Ellie was 10 months old...250 people came to support us, and we raised $23,000 for research! We couldn't have prepared ourselves for the feeling of that day...it gives me goosebumps thinking about the 10 PWS families in attendance, one heard about the event on the news and came out!
A week after our walk, we traveled as a family to Philly for The Foundation for Prader-Willi Research conference to experience more community. Every person there instantly became part of our family, and we knew we were understood and supported. It was an indescribable feeling. After returning home from the conference, I remember finally feeling at peace with PWS. And hands down, I was energized to fight even harder to raise PWS awareness and funds for research, to support, Ellie, and all individuals battling PWS.
Our second One SMALL Step walk in 2014 was another huge success, and we "Exercised for Ellie and others fighting PWS" 80s style! 300 people came to support us, along with 12 PWS families. We raised roughly $25,000 for PWS Research!
Most recently, I have become the Vice President for the Prader-Willi Syndrome Association of the Carolina's chapter (North and South Carolina) and I couldn't be more excited to help get the chapter re-energized, and moving and grooving to support one another and our children. We have our first annual, mini conference in Huntersville in June, and yet again, it is a chance for me to witness and experience the amazing PWS community.
Our PWS community an inspiring group of individuals, and year after year we continue to be amazed at what we are able to
achieve. While, we all never dreamed of being on this same journey together, David and I are beyond blessed to be navigating it with the best community of individuals we could have imagined. Together, we will help our children and loved ones with PWS, Live...Life...FULL.
Thursday, May 29, 2014
Research
The key to Ellie's future is research. The Foundation for Prader-Willi Research was founded in 2003 by a group of parents who realized it was up to them to foster research and create better lives for their children with PWS, many of which have helped shape Ellie's current treatments and therapies. "To date, the FPWR has committed more than $3,000,000 to support PWS-related research. More than sixty research projects have been funded since 2003, covering these topics:
"Essentialis has received orphan drug designation from the FDA for DCCR (diazoxide choline controlled release)! This designation will help expedite some of the clinical trial process as researchers work to evaluate effectiveness and safety of the drug. We are hopeful that clinical trial data will show positive results, and much work still needs to be done. For more information on the current Phase I clinical trial including how to participate, please visit: http://www.fpwr.org/clinical-study-of-diazoxide-choline-controlled-release-tablet-dccr-in-patients-with-prader-willi-syndrome/
"Zafgen announced in November results of a completed Phase 2 study of their obesity drug, Beloranib, in severely obese patients (non-pws). Findings from the study demonstrated significant weight loss in 147 obese individuals over a 12 weeks of treatment. More recently, Zafgen shared results from a small trial involving 17 PWS adults. In the trial, the drug reduced weight and body fat as well as decreased the urge to food seek. Results from the Beloranib study have been reported in both the New York Times and Forbes magazine" (http://www.fpwr.org/zafgens-research-into-weight-loss-drug-beloranib-looks-promising/).
Unfortunately, there is still not a treatment for the extreme hunger that will dictate so much of Ellie's life. As we have become more involved with the Foundation for Prader-Willi Research and have seen the plans they have in place, we are confident and hopeful that a cure could be found in Ellie's lifetime!
Research...and the future. It goes hand in hand, and doesn't seem so daunting when I read the great strides we are making. David and I are truly grateful and indebted to the scientists, researchers, professionals, and organizations like FPWR...thank you from the bottom of our hearts for working to give our daughter the best life possible.
- the genetics and pathophysiology of PWS
- the development of mouse models of PWS
- hunger, obesity, and reward circuits of the brain
- the development of new therapies for PWS
- understanding sleep disturbances in PWS
- improving academic and learning skills for children with PWS
Looking back, thankfully due to research, and tireless efforts by PWS families, medical professionals, scientists and organizations like FPWR and PWSA USA, individuals are able to benefit from treatment like HGH (Human Growth Hormone). As we move into 2014, it is truly an exciting year for PWS research. Many clinical trials will be taking place, meaning that their have been drugs identified that might be of benefit to individuals living with PWS! Below are some of the exciting clinical trials that are on the horizon or are in process:
"Essentialis has received orphan drug designation from the FDA for DCCR (diazoxide choline controlled release)! This designation will help expedite some of the clinical trial process as researchers work to evaluate effectiveness and safety of the drug. We are hopeful that clinical trial data will show positive results, and much work still needs to be done. For more information on the current Phase I clinical trial including how to participate, please visit: http://www.fpwr.org/clinical-study-of-diazoxide-choline-controlled-release-tablet-dccr-in-patients-with-prader-willi-syndrome/
"Zafgen announced in November results of a completed Phase 2 study of their obesity drug, Beloranib, in severely obese patients (non-pws). Findings from the study demonstrated significant weight loss in 147 obese individuals over a 12 weeks of treatment. More recently, Zafgen shared results from a small trial involving 17 PWS adults. In the trial, the drug reduced weight and body fat as well as decreased the urge to food seek. Results from the Beloranib study have been reported in both the New York Times and Forbes magazine" (http://www.fpwr.org/zafgens-research-into-weight-loss-drug-beloranib-looks-promising/).
Unfortunately, there is still not a treatment for the extreme hunger that will dictate so much of Ellie's life. As we have become more involved with the Foundation for Prader-Willi Research and have seen the plans they have in place, we are confident and hopeful that a cure could be found in Ellie's lifetime!
Research...and the future. It goes hand in hand, and doesn't seem so daunting when I read the great strides we are making. David and I are truly grateful and indebted to the scientists, researchers, professionals, and organizations like FPWR...thank you from the bottom of our hearts for working to give our daughter the best life possible.
Wednesday, May 28, 2014
Words
I read this today, and it is spot on. While the mother asks for forgiveness of her snarkiness and attitude, I would like each of you to know that I want you to see this for what it is...truth to PWS parents, and something everyone can learn from. I want to raise awareness for this syndrome, and it is, like this mother points out, extremely COMPLEX. Please do not feel like I am singling anyone out. These comments and words are things that are typical to say, but I want you to step back and put yourself in our shoes, the shoes of those parents who have a child with PWS. Words can hurt, and that is why the end is so powerful, crucial, and imperative. We must be kind to one another...everyone is fighting a battle in their own way. http://jessicapatay.com/?p=306
Jessica, thank you for this...
The 10 Things NOT to Say to a Parent of a Child with Prader-Willi syndrome
We (special needs parents) have all been annoyed, hurt, or angered by someone’s comments to us about our child. It’s usually someone well-meaning, and just absolutely unaware of Prader-Willi syndrome, or what it’s like to have a disabled child. We cannot expect others to understand or to know what to say or not to say. We must give them some grace. However, with that being said, I thought I would compile this list. Forgive my snarkiness.
1. Oh, you have such a quiet baby. You are so lucky. How I wished my child would have cried and screamed, but he could not.
2. Your kid is such a good eater! Yes, it’s his hobby. It’s all he thinks and talks about. Every day. All day long.
3. I love how many questions he asks. He must be really smart. Yes and no. His IQ is actually low. And the questions are nonstop because he is a high-need-to-know kid and also is very anxious about life in general. It is cute to you, but its actually exhausting to our family.
And then:
4. Its ok, he can keep asking me questions. No, really we are teaching him NOT to talk to strangers, and not to ask more than two questions.
5. Oh, my kid likes to eat all day long, too. As if it’s the same thing. No, its not life-threatening for YOUR child to eat whatever and whenever. You don’t skip parties, restaurants and social gatherings because your kid is a snacker. However, our life is completely altered.
6. You must be a special family if _____ was entrusted to you. At the same time that this seems like a compliment, it is not comforting. At all. I am definitely growing in my compassion and patience and parenting skills. I don’t feel special though. Even when I recognize how my heart and life have expanded as a result of having a disabled child.
7. I don’t know HOW you do it. Because I have to. I don’t have a choice. I will not crawl into a hole. I will be a Mama Bear Advocate for my child and you would too, if you HAD to.
8. Maybe he will grow out of it. No, but that is a nice sentiment. He will not grow a chromosome 15 someday.
9. I hope he/she will be ok. Well, he DOES have a life-long disability. So probably not. Its better to say, “Are you ok? Do you need a break? How can I be helpful to you?”
10. Oh, really? But he looks and seems so normal. Because he should have a 3rd eye or something? Yes, he is very beautiful and sweet. But trust me. It’s very complex, and NOT a normal genetic disorder at all. Our family life is not normal as I had hoped and dreamed.
Again, please friends, forgive my sarcasm and attitude. It does feel cathartic to vent it all out.
But–I don’t do this for the sake of vomiting my pain and ache onto you. Truly, I hope that you will be more aware of the power of your words. That they carry heavy weight. May you and I together have more sensitivity when it comes to talking with mothers and families with very unique, non-typical circumstances.
Everyone is fighting a battle of some sort in their life. Everyone. So lets be kind. Very, very kind.
Sunday, May 25, 2014
Hunger
This is by far the hardest post for me to write.
Hunger
This is what makes my heart break into a million pieces. "One day, your child will feel extreme, insatiable, hunger. All day. Every day. She will never feel full." I've thought about this moment many times in my head, and it is a dark, dark place. I often find myself thinking about it when I hear people say, " I'm starving!" "Man, I'm hungry." "Oh, I'm stuffed and so full." "She's a good eater." These are all very common statements, but for a parent who has a child with PWS, they will always sting and hurt. I think what makes it so hard, is that these are typical, everyday comments, that I totally took for granted, until Ellie was born.
And as a mother, from the moment your child comes into your life, your sole purpose is to take care of your child. Feeding them when they are hungry, is such a critical part of being a mother. I feel like in many ways I am not able to provide for Ellie in the most important way a mother should...to feed my baby. It kills me. I hate how food is a comforter. I hate how it inundates our society, fills our holidays, is used for rewards, and is everywhere.
"The symptoms of Prader-Willi syndrome are thought to be caused by dysfunction of a portion of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that plays a crucial role in many bodily functions, including hunger and satiety, temperature and pain regulation, sleep-wake balance, fluid balance, emotions, and fertility.An unregulated appetite characterizes the second stage of PWS. This stage most commonly begins between ages 2 and 8 years old. Individuals with PWS lack normal hunger and satiety cues. They usually are not able to control their food intake and will overeat if not closely monitored. Food seeking behaviors are very common. In addition, the metabolic rate of persons with PWS is lower than normal. Left untreated, this combination of problems leads to morbid obesity and its many complications" (http://www.fpwr.org/about-prader-willi-syndrome/).
PWS is such a cruel, cruel genetic disorder. From the moment Ellie entered the word, she struggled to eat. She couldn't nurse, and exerted so much energy to eat 42 mLs (her goal amount to feed by mouth). Her little body took 30-45 minutes to drink this, and she was utterly exhausted afterward. You could not just put a bottle in her mouth and expect her to drink...we had to hold her cheeks, support her jaw, tap the bottle, spin the bottle, tickle her feet, crank her arm. Exhausting...for her and us. And then, after we have worked so, so hard to make sure she eats, when she is older, we will have to restrict and limit everything she eats. We will have to lock refrigerators, pantries, trash cans, and monitor every bit of food and drink she has. Birthday parties will be different, going to friend's houses will be different, treats will be different, many things will be different. It's wrong, it hurts, it's not fair, it makes me angry and sad. It makes me ask, "Why?"
Then I look at my precious angel. She is perfect, exactly as God made her. So, my question should really be, "Why, not?"
Ellie may have PWS, but PWS does not have her, or her family!
We will move forward, work longer, pray harder, love deeper, and be her biggest advocate.
Hunger
This is what makes my heart break into a million pieces. "One day, your child will feel extreme, insatiable, hunger. All day. Every day. She will never feel full." I've thought about this moment many times in my head, and it is a dark, dark place. I often find myself thinking about it when I hear people say, " I'm starving!" "Man, I'm hungry." "Oh, I'm stuffed and so full." "She's a good eater." These are all very common statements, but for a parent who has a child with PWS, they will always sting and hurt. I think what makes it so hard, is that these are typical, everyday comments, that I totally took for granted, until Ellie was born.
And as a mother, from the moment your child comes into your life, your sole purpose is to take care of your child. Feeding them when they are hungry, is such a critical part of being a mother. I feel like in many ways I am not able to provide for Ellie in the most important way a mother should...to feed my baby. It kills me. I hate how food is a comforter. I hate how it inundates our society, fills our holidays, is used for rewards, and is everywhere.
"The symptoms of Prader-Willi syndrome are thought to be caused by dysfunction of a portion of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that plays a crucial role in many bodily functions, including hunger and satiety, temperature and pain regulation, sleep-wake balance, fluid balance, emotions, and fertility.An unregulated appetite characterizes the second stage of PWS. This stage most commonly begins between ages 2 and 8 years old. Individuals with PWS lack normal hunger and satiety cues. They usually are not able to control their food intake and will overeat if not closely monitored. Food seeking behaviors are very common. In addition, the metabolic rate of persons with PWS is lower than normal. Left untreated, this combination of problems leads to morbid obesity and its many complications" (http://www.fpwr.org/about-prader-willi-syndrome/).
PWS is such a cruel, cruel genetic disorder. From the moment Ellie entered the word, she struggled to eat. She couldn't nurse, and exerted so much energy to eat 42 mLs (her goal amount to feed by mouth). Her little body took 30-45 minutes to drink this, and she was utterly exhausted afterward. You could not just put a bottle in her mouth and expect her to drink...we had to hold her cheeks, support her jaw, tap the bottle, spin the bottle, tickle her feet, crank her arm. Exhausting...for her and us. And then, after we have worked so, so hard to make sure she eats, when she is older, we will have to restrict and limit everything she eats. We will have to lock refrigerators, pantries, trash cans, and monitor every bit of food and drink she has. Birthday parties will be different, going to friend's houses will be different, treats will be different, many things will be different. It's wrong, it hurts, it's not fair, it makes me angry and sad. It makes me ask, "Why?"
Then I look at my precious angel. She is perfect, exactly as God made her. So, my question should really be, "Why, not?"
Ellie may have PWS, but PWS does not have her, or her family!
We will move forward, work longer, pray harder, love deeper, and be her biggest advocate.
Friday, May 23, 2014
Friends
What is one thing we as parents long for our children to have? Well, I know there are a lot of things we long for them to have, but tonight, I am thinking about friends. I want Ellie to have friends...meaningful, genuine, lifetime friends.
I can remember in the first days after receiving Ellie's diagnosis, David and I had a million thoughts run through our heads. I can remember just crying at the drop of a hat, thinking about the "what ifs." I can also, remember David looking at me, with tears in his eyes, "Do you think she will make friends?" We just held each other. "Yes, I said. I know she will." It is such a raw, sinking feeling when doctors give you a diagnosis. It is like everything is taken away from you, and things you never dreamed you would be worried about, creep to the surface. Will my child make friends? Will she relate to others? Will she thrive socially? Will she be accepted?
Ellie, without a doubt is a social little girl. She never meets a stranger, and has this infectious personality that draws you in. I love seeing her interact with other people, and couldn't be more proud and happy of her. From an early age, she has been in therapy 4-5 times a week, so she interacts with others...that in itself is so beneficial for her. Also, I make every effort to get her around lots of different people. I can tell, she is just a people person and to some extent, I think she is like me, she is energized around people. She's like her daddy too...she captivates people's attention, and one day, I think she will be a super storyteller like he is...who knows, maybe even a drummer. I can only hope she gets his rhythm and not mine!
Watching her interact with other children has been the most precious thing. It has really helped her language to soar, and she is so interested in others, and loves, loves, loves learning and saying their names. That makes me so proud, because I strive to remember people's names...it is just so important.
Ellie has the unique blessing of making some amazing friends in the PWS community. Each time we get together with a family that has a child with PWS, it gives me chills to see Ellie and that child interact, hug one another, and instantly love each other. These friends are so important because they "get one another" and will be able to provide support to each other in the years to come. She has older friends with PWS, that will look out for her, like Ayden Jane, Hannah, Peyton, Madison, Trey, Riden, Adrian, Aubrey, and Meagan. And she has friends closer to her own age, like Haven, Mila, Gracie, Le'Bron, Ella, Jack, Jener, Leah, Sadie, Kate, Jentry, Joseph, Brooklyn, and Kylar (the list could go on and on) that she will get to grow up together with, and spend lots of time together playing. The awesome thing about these friends, is that some of them are close by, and others are all over the United States! I am so excited to see how her friendships form throughout our awesome PWS community. Heck, she might even marry one of them!
Friends...Ellie will most definitely make them...
And as her parents, we can't wait to help her cultivate these relationships, and celebrate the goodness and joy they bring to her life and ours.
I can remember in the first days after receiving Ellie's diagnosis, David and I had a million thoughts run through our heads. I can remember just crying at the drop of a hat, thinking about the "what ifs." I can also, remember David looking at me, with tears in his eyes, "Do you think she will make friends?" We just held each other. "Yes, I said. I know she will." It is such a raw, sinking feeling when doctors give you a diagnosis. It is like everything is taken away from you, and things you never dreamed you would be worried about, creep to the surface. Will my child make friends? Will she relate to others? Will she thrive socially? Will she be accepted?
Ellie, without a doubt is a social little girl. She never meets a stranger, and has this infectious personality that draws you in. I love seeing her interact with other people, and couldn't be more proud and happy of her. From an early age, she has been in therapy 4-5 times a week, so she interacts with others...that in itself is so beneficial for her. Also, I make every effort to get her around lots of different people. I can tell, she is just a people person and to some extent, I think she is like me, she is energized around people. She's like her daddy too...she captivates people's attention, and one day, I think she will be a super storyteller like he is...who knows, maybe even a drummer. I can only hope she gets his rhythm and not mine!
Watching her interact with other children has been the most precious thing. It has really helped her language to soar, and she is so interested in others, and loves, loves, loves learning and saying their names. That makes me so proud, because I strive to remember people's names...it is just so important.
Ellie has the unique blessing of making some amazing friends in the PWS community. Each time we get together with a family that has a child with PWS, it gives me chills to see Ellie and that child interact, hug one another, and instantly love each other. These friends are so important because they "get one another" and will be able to provide support to each other in the years to come. She has older friends with PWS, that will look out for her, like Ayden Jane, Hannah, Peyton, Madison, Trey, Riden, Adrian, Aubrey, and Meagan. And she has friends closer to her own age, like Haven, Mila, Gracie, Le'Bron, Ella, Jack, Jener, Leah, Sadie, Kate, Jentry, Joseph, Brooklyn, and Kylar (the list could go on and on) that she will get to grow up together with, and spend lots of time together playing. The awesome thing about these friends, is that some of them are close by, and others are all over the United States! I am so excited to see how her friendships form throughout our awesome PWS community. Heck, she might even marry one of them!
Friends...Ellie will most definitely make them...
And as her parents, we can't wait to help her cultivate these relationships, and celebrate the goodness and joy they bring to her life and ours.
Thursday, May 22, 2014
Behavior
Oh, isn't it fun as a parent to deal with behavior issues and temper tantrums?! All kids deal with this in some way, and have tantrums of some kind. We, as parents have to navigate the best ways to guide our kids through them, and work them out...without pulling all our hair out...can I get an Amen?
You've probably all done this at some point...you're out somewhere and you see a child absolutely LOOSE it...you mutter something like, "If that were my child, they wouldn't act like that, or their parents need to let that kid have it." I would urge you to really think before you judge, and make assumptions the next time you experience something like this. Yes, it could be that the child doesn't have good discipline systems in place, and gets away with too much, but maybe that child struggles with their emotions and behavior, has extreme anxiety, OCD, and is struggling with everyday change of life that you and I can control, and move beyond. Maybe that child has PWS. Or autism. Or another genetic disorder. Or an intellectual disability. Or an awful home life.
Individuals with PWS tend to have behavioral struggles, and have meltdowns or temper tantrums. Honestly, this was something every doctor continued to highlight, and fixate on...besides the extreme hunger. Does it scare me? Yes. Were there times when we wondered if we would ever be able to go out places with Ellie? Yes. Do I worry about this in regards to school? Yes. Did I look at my precious, innocent child and worry that one day she might be completely out of control and display these horrific behavior/temper outbursts? Yes. Am I working through all this, and finding peace? Yes.
All things individuals with PWS can struggle behaviorally with these things...OCD, repetition, stubbornness, and extreme anxiety (which can manifest itself in skin picking), emotional outbursts, rigid thinking.
A parent contributor for IPWSO so wonderfully stated, "All behavior can be seen as communication" (http://www.ipwso.org/#!understanding-behaviours/c23h5). As a parent of a child who has PWS this is critical to understand. Most behavior outbursts will come from a communication breakdown and in the case of PWS stem from one thing....anxiety, mainly stemming from food. Think about your behavior when you become anxious. You become frank, angry, uneasy, uptight, and often say things you don't mean to. Learning what makes Ellie anxious will be so important for David and me, so that we can help her feel in control of it. Individuals with PWS tend to be concrete thinkers, and do well with visual interpretations. They tend to not do well with spontaneous change. It is hard for them to "switch gears" once they have in their mind what is supposed to happen.
As we move forward on this journey, I am nervous how to navigate this thing called behavior...PWS does complicate things, but the way I see it, you have to find the positive in all this. The positive is, I know my daughter. I know that when I look in her eyes, there is a loving-kindness she possesses that is beautiful. I know she is goofy, funny, witty, and simply has the best personality. I know she is determined and strong, and surely opinionated like her daddy. I know when she looks at me she trusts me. Trust is key to communication and behavior.
You've probably all done this at some point...you're out somewhere and you see a child absolutely LOOSE it...you mutter something like, "If that were my child, they wouldn't act like that, or their parents need to let that kid have it." I would urge you to really think before you judge, and make assumptions the next time you experience something like this. Yes, it could be that the child doesn't have good discipline systems in place, and gets away with too much, but maybe that child struggles with their emotions and behavior, has extreme anxiety, OCD, and is struggling with everyday change of life that you and I can control, and move beyond. Maybe that child has PWS. Or autism. Or another genetic disorder. Or an intellectual disability. Or an awful home life.
Individuals with PWS tend to have behavioral struggles, and have meltdowns or temper tantrums. Honestly, this was something every doctor continued to highlight, and fixate on...besides the extreme hunger. Does it scare me? Yes. Were there times when we wondered if we would ever be able to go out places with Ellie? Yes. Do I worry about this in regards to school? Yes. Did I look at my precious, innocent child and worry that one day she might be completely out of control and display these horrific behavior/temper outbursts? Yes. Am I working through all this, and finding peace? Yes.
All things individuals with PWS can struggle behaviorally with these things...OCD, repetition, stubbornness, and extreme anxiety (which can manifest itself in skin picking), emotional outbursts, rigid thinking.
A parent contributor for IPWSO so wonderfully stated, "All behavior can be seen as communication" (http://www.ipwso.org/#!understanding-behaviours/c23h5). As a parent of a child who has PWS this is critical to understand. Most behavior outbursts will come from a communication breakdown and in the case of PWS stem from one thing....anxiety, mainly stemming from food. Think about your behavior when you become anxious. You become frank, angry, uneasy, uptight, and often say things you don't mean to. Learning what makes Ellie anxious will be so important for David and me, so that we can help her feel in control of it. Individuals with PWS tend to be concrete thinkers, and do well with visual interpretations. They tend to not do well with spontaneous change. It is hard for them to "switch gears" once they have in their mind what is supposed to happen.
As we move forward on this journey, I am nervous how to navigate this thing called behavior...PWS does complicate things, but the way I see it, you have to find the positive in all this. The positive is, I know my daughter. I know that when I look in her eyes, there is a loving-kindness she possesses that is beautiful. I know she is goofy, funny, witty, and simply has the best personality. I know she is determined and strong, and surely opinionated like her daddy. I know when she looks at me she trusts me. Trust is key to communication and behavior.
Fundraising
If you spend a little time with me, you know Ellie will be brought up! The conversation will eventually lead to PWS and our journey...after all, day in, day out, it is my life. I tend to be an open book when discussing our PWS journey, because I want people to know about it, ask about it, know how to support us effectively, and ultimately pray for our sweet girl.
But anyone who knows me well, knows that my heart and soul lies in PWS fundraising. Seriously, I stay awake at night brainstorming ways to raise funds for PWS. I think about ways to reach the community, ways to cultivate corporate sponsors, ways to improve our annual One SMALL Step event, ways to reach just one person that might believe in our story and mission. I even was blessed to be hired by The Foundation for Prader-Willi Research (FPWR), one organization that has provided so much encouragement, inspiration, and hope to David and me.
All these events, ideas, and talk of fundraising drive my poor husband absolutely crazy. All he has to do is look at me, and knows when I have the fundraising glimmer and "look" in my eye. He, along with our families & friends, have been such supporters as we have set out to fundraise for Ellie and others with PWS.
For the past two years we have partnered with FPWR and hosted One SMALL Step 5K/Walks. Each year we raised close to $25,000 for PWS Research! The day means more to me than fundraising...it is a day of celebration, empowerment, and healing for our family and others with PWS. Seeing individuals in the community, our family, friends, colleagues, and other PWS families come together to exercise, fellowship, and fundraise for this important cause gives me chills. It helps me know we are not alone, and shows all individuals with PWS that we are here to support them and work to find treatments that will give them the best life possible.
Why is fundraising for PWS crucial? Each day that passes, Ellie and others with PWS become a little older. That means that she and others are closer to experiencing the phase of ever-ending, cruel, constant hunger. There are many individuals living with this horror every day. As a mother, this kills me. The time is now to fundraise. Who knows, the more our story is shared, the more likely that someone might take notice, and have the passion to help my daughter and her amazing friends with their funds. I choose to believe that this will happen, and one day very soon, Ellie and her friends with PWS will Live Life FULL.
Tuesday, May 20, 2014
School
Every parent has high hopes and dreams for their children excelling in school.
David and I are no different, and have great hopes and expectations for Ellie when it comes to school. We are realistic, however, and understand that PWS adds another level of complexity and challenge to the equation.
PWS, like many other genetic disorders, is a spectrum disorder. Every child will excel in different areas, and struggle in others...the severity is different for every child. School, for individuals with PWS is a spectrum as well. Some individuals will be in typical classroom settings, while some will be attend schools for special needs individuals. Some may graduate high school and (some) college, while others will not. The way I approach the school issue is simple and twofold. Working in the Academic Support Center, and with college students has helped me tremendously in this area. Also, the long talks David and I have shared about education, school, and college have been so important.
We want two things for Ellie:
David and I are no different, and have great hopes and expectations for Ellie when it comes to school. We are realistic, however, and understand that PWS adds another level of complexity and challenge to the equation.
PWS, like many other genetic disorders, is a spectrum disorder. Every child will excel in different areas, and struggle in others...the severity is different for every child. School, for individuals with PWS is a spectrum as well. Some individuals will be in typical classroom settings, while some will be attend schools for special needs individuals. Some may graduate high school and (some) college, while others will not. The way I approach the school issue is simple and twofold. Working in the Academic Support Center, and with college students has helped me tremendously in this area. Also, the long talks David and I have shared about education, school, and college have been so important.
We want two things for Ellie:
- We want her to always try her very best & capitalize on her strengths
- We want her to be appropriately challenged academically, and have optimum support systems and resources in place to help her succeed
David and I are committed to helping her navigate school, whatever that looks like. We will help her hone her skills and strengths, and find her niche. There are bound to be struggles, and we'll be there work through those, discipline appropriately, and love her through everything. Even at a young age, I have discovered that Ellie is motivated by, and loves praise. She wants to see people get excited when she does something well and correct, she wants you to clap for her, and she loves hearing that she did a good job. This will be important as she gets older.
Most every individual with PWS faces some form of learning challenge(s). This past year, Ellie attended a half day preschool at our church. It was a typical classroom with all levels of children. She absolutely loved it and learned so, so much. It was a great fit for her, and her teachers were so willing to learn about PWS and help Ellie thrive in their class. There were times where Ellie fit right in with her peers, and times where I understood she is delayed. As a parent, of course, that is hard to stomach. But, hands down, Ellie grew academically, socially, and developmentally by being there. Every state has a program for children with special health care needs, and in South Carolina, Ellie automatically qualified (based on her diagnosis) for BabyNet services (Early Intervention services and therapy for ages birth to 3).
90 days before Ellie turns 3 years old, Ellie, her Early Interventionist, David and myself will have a meeting with the school district and Ellie will be screened to see if she qualifies for additional services through The South Carolina Department of Disabilities and Special Needs. Currently, Ellie is continuing to make progress in therapy, and we will navigate all this when it becomes time. Would she benefit from attending a special needs preschool? Should she stay at the program she has been at? What if she doesn't qualify? Those are all questions to think about and work through as we begin this new phase of life. We must work together with those in our community to establish the best "fit" and best foundation for Ellie in school.
It is highly likely that Ellie will have an IEP (Individualized Education Program). "The Individualized Education Program (IEP) is a legal document developed by the student, teachers, administrators, parents and other team members. The IEP helps students with disabilities in reaching their goals. According to the Individuals with Disabilities Education Act 2004, the IEP must focus on the student's preferences, interests, needs and strengths. All students, regardless of age or disability, can be involved in the development of their own IEP" (http://www.spart6.org/parentsandstudents/specialservices/selfdeterminationandstudentlediepmeetings.aspx). This document will help educators understand and describes how a student learns, the best ways they demonstrate that learning, and what teachers, administrators, and other education providers will do to help the student learn to their best potential. Ellie's will certainly have specific, detailed, information and outlines of food security, restriction and instructions.
School...it's something I hope Ellie loves and enjoys. When your child is given a diagnosis, you are told many, many things. Limits are and will be placed on your child, and theories of the future will be hypothesized. But the thing is, the future is not yet written, and quite frankly, Ellie is paving her own trail. Nothing is off limits for our girl, and we are all completely and utterly happy with being totally average. We will work and strive for extraordinary!
Meagan is proof of just that...love her!
Monday, May 19, 2014
HGH
Every night Ellie gets a shot...
Initially, I had such a hard time coming to grips with this, but now it is just part of her routine.
Ellie has done absolutely fantastic getting this shot. I was a nervous wreck the first time the nurse came to the house show us how to administer it, and then the first time I gave it to her...I shook like a leaf. But now, David and I could give it to her in our sleep, and Ellie helps us...she tells us every night which side (booty cheek) receives the shot...it is the cutest thing, and of course we marvel at how smart she is, because she is right every time!
The shot she gets is a Human Growth Hormone (HGH) injection. I know it is not a magic injection, but the benefits HGH provides to individuals with PWS are amazing. I am so, so thankful that Ellie is able to receive this treatment. "Growth hormone deficiency is present in almost all children and many adults with PWS. In multiple studies, human growth hormone (HGH) has been found to be beneficial for those with Prader-Willi syndrome. In June of 2000, HGH was officially approved by the Federal Drug Administration (FDA) in the United States for use in patients with Prader-Willi syndrome. HGH is effective not only in increasing height, but also in decreasing body fat, increasing muscle mass, improving weight distribution, increasing stamina, and increasing bone mineral density. In addition, studies suggest its positive effects on development and behavior" (http://www.fpwr.org/prader-willi-syndrome-diagnosis-treatments/).
Ellie began HGH injections when she was 6 months old. Because children with PWS can have a high incidence of central and obstructive apnea, Ellie had to have a sleep study before she could begin HGH. We will continue to be followed by pediatric sleep medicine, since Ellie does have both central and obstructive apnea, and they will want to monitor her closely. They will keep a close eye on her tonsils as well, because HGH can often lead to the increased growth of these, and they potentially may need to come out in the future.
Upon reading various articles about HGH, I found the following on PWSA USA's website, that I believe helps everyone understand PWS and the benefit for HGH a bit better, because it answers the question, "What causes growth problems in children with Prader-Willi syndrome?"
"Researchers strongly suspect that the part of the brain called the hypothalamus is the main source of the growth differences in PWS. A tiny part of the central brain, the hypothalamus connects the body’s two key systems for survival and maintenance—the nervous system and the endocrine system. In addition to playing a key role in growth and sexual development, the hypothalamus regulates appetite, metabolism, body temperature, mood, and other functions that we know are affected in people with PWS. It is likely that one or more of the genes that are missing (or not functioning) in people with PWS supply essential instructions to this part of the brain.
So, for us, we will continue to read, research, and learn about HGH and other potential treatment options for our daughter. Luckily, we live in a time where science is ever-changing, and discoveries, therapeutic treatment and options are hopeful for PWS and other rare diseases.
Initially, I had such a hard time coming to grips with this, but now it is just part of her routine.
- Bath
- Shot
- Milk
- Book
- Prayers
- Night-Night
Ellie has done absolutely fantastic getting this shot. I was a nervous wreck the first time the nurse came to the house show us how to administer it, and then the first time I gave it to her...I shook like a leaf. But now, David and I could give it to her in our sleep, and Ellie helps us...she tells us every night which side (booty cheek) receives the shot...it is the cutest thing, and of course we marvel at how smart she is, because she is right every time!
The shot she gets is a Human Growth Hormone (HGH) injection. I know it is not a magic injection, but the benefits HGH provides to individuals with PWS are amazing. I am so, so thankful that Ellie is able to receive this treatment. "Growth hormone deficiency is present in almost all children and many adults with PWS. In multiple studies, human growth hormone (HGH) has been found to be beneficial for those with Prader-Willi syndrome. In June of 2000, HGH was officially approved by the Federal Drug Administration (FDA) in the United States for use in patients with Prader-Willi syndrome. HGH is effective not only in increasing height, but also in decreasing body fat, increasing muscle mass, improving weight distribution, increasing stamina, and increasing bone mineral density. In addition, studies suggest its positive effects on development and behavior" (http://www.fpwr.org/prader-willi-syndrome-diagnosis-treatments/).
Ellie began HGH injections when she was 6 months old. Because children with PWS can have a high incidence of central and obstructive apnea, Ellie had to have a sleep study before she could begin HGH. We will continue to be followed by pediatric sleep medicine, since Ellie does have both central and obstructive apnea, and they will want to monitor her closely. They will keep a close eye on her tonsils as well, because HGH can often lead to the increased growth of these, and they potentially may need to come out in the future.
Upon reading various articles about HGH, I found the following on PWSA USA's website, that I believe helps everyone understand PWS and the benefit for HGH a bit better, because it answers the question, "What causes growth problems in children with Prader-Willi syndrome?"
"Researchers strongly suspect that the part of the brain called the hypothalamus is the main source of the growth differences in PWS. A tiny part of the central brain, the hypothalamus connects the body’s two key systems for survival and maintenance—the nervous system and the endocrine system. In addition to playing a key role in growth and sexual development, the hypothalamus regulates appetite, metabolism, body temperature, mood, and other functions that we know are affected in people with PWS. It is likely that one or more of the genes that are missing (or not functioning) in people with PWS supply essential instructions to this part of the brain.
To understand growth and growth hormone treatment in Prader-Willi syndrome, it is helpful to have a basic understanding of how the hormone—or endocrine—system normally works. The endocrine system is made up of all the glands that produce and release hormones into the bloodstream. Just below the hypothalamus, and directly attached to it, is the pituitary gland. Called the "master gland" because it receives messages from the hypothalamus and relays them to the other endocrine glands, the pituitary makes and releases many hormones. Among these are growth hormone (GH) and the hormones for sexual development and reproduction (LH and FSH). If the pituitary does not make or release enough of these hormones, then the organs that depend on them cannot do their job" (http://www.pwsausa.org/syndrome/GHQ&A.htm).
This question and many more are answered in the book, "Growth Hormone and Prader-Willi Syndrome A Reference for Families and Care Providers", by Linda S. Keder
Also, "Our study shows that GH treatment prevents deterioration of certain cognitive skills in children with PWS on the short term and significantly improves abstract reasoning and visuospatial skills during 4 yr of GH treatment. Furthermore, children with a greater deficit had more benefit from GH treatment" (http://www.ncbi.nlm.nih.gov/pubmed/22508707). This is huge for us, and for Ellie. HGH has endless benefits for individuals living with PWS.
For David and I, we fully believe in HGH as a beneficial treatment for Ellie. Every family must make their own decision about this, and must do so with the help and care of a pediatric endocrinologist. We are so thankful and blessed to have two of the best caring for Ellie:
- Dr. Jennifer Miller, Assistant Professor in the division of pediatric endocrinology, University of Florida, and leading PWS Expert
- Dr. Elaine Moreland, Pediatric Endocrinologist, Children's Hospital Outpatient Center of Greenville Health System
So, for us, we will continue to read, research, and learn about HGH and other potential treatment options for our daughter. Luckily, we live in a time where science is ever-changing, and discoveries, therapeutic treatment and options are hopeful for PWS and other rare diseases.
Strength
I thought it would be fitting to write about strength today.
You see, it was 7 years ago today that David and I said, "I do." We both had no idea, that day, what life would hold for us...other than the fact that we knew we must spend it with each other. I will remember our wedding day forever, and it was perfect, but it doesn't compare to the day that I saw David meet Ellie for the first time. It was simply beautiful.
The labor and delivery had been incredibly scary, and we were both were terrified. But, the moment we saw Ellie, everything changed. David was so overcome by his little girl, and beamed with joy, pride, and strength. In those next hours and days we would both learn strength on a whole new level.
From the moment I returned to my room after delivery, the roller coaster began for us. David rushed down to the NICU because Ellie had been sent there. She was then released and brought to the well baby nursery and our room...we thought we were out of the woods.
After we spent some time with her, that evening she had another breathing episode and was rushed to the NICU, and admitted. That night was so, so hard. We felt alone, uneasy, and sad. I have always known David is extremely strong, but that night I got to see my husband in a whole different light, and fell even more in love with him. His strength through all this blew me away. He would pick me up when I felt as if I couldn't go on, he pushed me to spend every waking moment with Ellie in the NICU, even when I felt like I couldn't make it after just having a c-section, he held me when I cried, he prayed with me, for me and for Ellie, he assured me that the Lord had a plan through all of this, he went to the NICU alone one night when I was too sick and sad to go, he supported, encouraged, and got up with me when I had to pump exclusively every 2-3 hours, he cheered me on as I learned the best ways to feed Ellie, he learned to feed her too like a champ, and he loved Ellie and me more than I ever could have imagined possible. He truly was and is the picture of strength.
We began the journey into our new normalcy.
Life as we knew it had changed.
We spent countless hours in the NICU with Ellie. We navigated the healthcare system, asked questions together, and waited anxiously as test results were sent off. Then, came the day that I was released from the hospital...but, not with our precious baby girl. Talk about heartache. David helped make it special, and showed strength through it all. Seeing him strong, helped me to remain strong. 26 days after Ellie was born, we got to bring her home...it was so, so happy and special.
The day I called the NICU for the test results our world came crashing down again, and it was such a dark, sad, scary, exhausting day. David and I were able to support one another, hold one another, and show each other strength through it all. I have learned, when one of us was weak, tired, exhausted and sad, the other one processed this extraordinary strength. I know God orchestrated our life together. He led us to one another, and He placed David in my life just when I needed him. We may be a bit like oil and water, but I would argue, we are perfect for each other. I need him. He needs me. As the days pass since we had Ellie, I look back on the growth we have each experienced...it is overwhelming. God is doing amazing things in our family. Our marriage is strong. I am so thankful for David. I am so appreciative of David. I know I don't tell him near enough, but I am so proud of him...he works so hard to provide for us. He is the best father and husband I could ever ask for, and I am indebted to him for the strength he shows us everyday.
I simply cannot imagine this journey with anyone other than David.
Happy 7 years! So glad we get to spend forever together. I love you so, so much!
You see, it was 7 years ago today that David and I said, "I do." We both had no idea, that day, what life would hold for us...other than the fact that we knew we must spend it with each other. I will remember our wedding day forever, and it was perfect, but it doesn't compare to the day that I saw David meet Ellie for the first time. It was simply beautiful.
The labor and delivery had been incredibly scary, and we were both were terrified. But, the moment we saw Ellie, everything changed. David was so overcome by his little girl, and beamed with joy, pride, and strength. In those next hours and days we would both learn strength on a whole new level.
From the moment I returned to my room after delivery, the roller coaster began for us. David rushed down to the NICU because Ellie had been sent there. She was then released and brought to the well baby nursery and our room...we thought we were out of the woods.
After we spent some time with her, that evening she had another breathing episode and was rushed to the NICU, and admitted. That night was so, so hard. We felt alone, uneasy, and sad. I have always known David is extremely strong, but that night I got to see my husband in a whole different light, and fell even more in love with him. His strength through all this blew me away. He would pick me up when I felt as if I couldn't go on, he pushed me to spend every waking moment with Ellie in the NICU, even when I felt like I couldn't make it after just having a c-section, he held me when I cried, he prayed with me, for me and for Ellie, he assured me that the Lord had a plan through all of this, he went to the NICU alone one night when I was too sick and sad to go, he supported, encouraged, and got up with me when I had to pump exclusively every 2-3 hours, he cheered me on as I learned the best ways to feed Ellie, he learned to feed her too like a champ, and he loved Ellie and me more than I ever could have imagined possible. He truly was and is the picture of strength.
We began the journey into our new normalcy.
Life as we knew it had changed.
We spent countless hours in the NICU with Ellie. We navigated the healthcare system, asked questions together, and waited anxiously as test results were sent off. Then, came the day that I was released from the hospital...but, not with our precious baby girl. Talk about heartache. David helped make it special, and showed strength through it all. Seeing him strong, helped me to remain strong. 26 days after Ellie was born, we got to bring her home...it was so, so happy and special.
The day I called the NICU for the test results our world came crashing down again, and it was such a dark, sad, scary, exhausting day. David and I were able to support one another, hold one another, and show each other strength through it all. I have learned, when one of us was weak, tired, exhausted and sad, the other one processed this extraordinary strength. I know God orchestrated our life together. He led us to one another, and He placed David in my life just when I needed him. We may be a bit like oil and water, but I would argue, we are perfect for each other. I need him. He needs me. As the days pass since we had Ellie, I look back on the growth we have each experienced...it is overwhelming. God is doing amazing things in our family. Our marriage is strong. I am so thankful for David. I am so appreciative of David. I know I don't tell him near enough, but I am so proud of him...he works so hard to provide for us. He is the best father and husband I could ever ask for, and I am indebted to him for the strength he shows us everyday.
I simply cannot imagine this journey with anyone other than David.
Happy 7 years! So glad we get to spend forever together. I love you so, so much!
Sunday, May 18, 2014
Poop
Everybody Poops. What?! I know, I'm sure you're wondering about this blog post. It is true though, everybody does poop. There was even a book written about it. Why on Earth would I blog about it?
Well, you see, once you become a parent...you find yourself talking about poop, and/or the lack there of...ALL.THE.TIME.
Poop is especially important when it comes to individuals living with PWS. After attending the FPWR conference in San Antonio, David and I got the pleasure of hearing Dr. Ann Scheimann, M.D., M.B.A., Gastroenterologist and PWS Specialist present. I had heard from our pediatrician, time and time again, that individuals with low muscle tone can be constipated, and I never really understood the extreme importance of why this was a big deal. After all, many parents of infants struggle with this issue and try all different strategies to get their kids to poop. Dr. Scheimann helped me to realize that poop is very important, and there are things David and I need to know, related to Ellie's gastric and intestinal health...her life could be at risk.
There is an article written in collaboration with Lisa Graziano, M.A., PWCF Executive Director, Janalee Heinemann, M.S., PWSA (USA) Director of Medical Affairs, and Dr. Ann Scheimann, M.D., M.B.A, Gastroenterologist and PWS Specialist on PWSA USA's website, and I am choosing to include a large portion of a quote by them. It is so important:
"Over the following years, particularly with closer examination by PWS/GI specialist Ann Scheimann, M.D., it has become clearer that a great number of other people with PWS have a stomach that empties too slowly. In fact, Dr. Scheimann now believes it is highly probable that a significant number of people with PWS have some degree of a slow emptying stomach. The medical name of this disorder is gastroparesis: the muscles in the wall of the stomach work poorly and prevent the stomach from emptying properly. As a result, food stays in the stomach longer than it should. Over time, the volume of accumulated food in the stomach can cause the stomach to become full. Like a balloon that has too much air, the stomach of someone with PWS that contains too much food can respond in one of two ways: it will rupture or the food will push so hard against the stomach lining that it compresses and weakens the cells in the stomach. Both of these conditions cause massive internal infection and can quickly lead to death. (Please note that there has typically been a prior eating binge with most incidents of stomach necrosis and death – but not in all cases.)
Other important factors to consider are that some medications such as narcotic pain relievers and anticholinergic medications (group of bronchodilators) can also cause the stomach to empty too slowly (as well as cause dry mouth symptoms). Abnormally high blood glucose (sugar) levels or undetected hypothyroidism can also slow stomach emptying; therefore, it is important to control blood glucose levels and screen periodically for hypothyroidism."
So, you can see why poop is so important. Ellie takes a probiotic every day to help with regularity and in the future, we might add a prebiotic supplement as well.
Gastroparesis scares me to death. But, the more we know, the more we as parents, caretakers, and friends can help those with PWS. What are treatment options and strategies to help? "The most likely answer to how we treat the potential for gastroparesis and slow emptying bowel is to presume they exist and treat them as if they exist." (Graziano, Heinemann, and Scheimann).
The article points out the following treatment strategies (paraphrased):
Article: http://www.pwsausa.org/medical/GI-Gastroparesis-The-Newest-Threat-2013.pdf
Well, you see, once you become a parent...you find yourself talking about poop, and/or the lack there of...ALL.THE.TIME.
Poop is especially important when it comes to individuals living with PWS. After attending the FPWR conference in San Antonio, David and I got the pleasure of hearing Dr. Ann Scheimann, M.D., M.B.A., Gastroenterologist and PWS Specialist present. I had heard from our pediatrician, time and time again, that individuals with low muscle tone can be constipated, and I never really understood the extreme importance of why this was a big deal. After all, many parents of infants struggle with this issue and try all different strategies to get their kids to poop. Dr. Scheimann helped me to realize that poop is very important, and there are things David and I need to know, related to Ellie's gastric and intestinal health...her life could be at risk.
There is an article written in collaboration with Lisa Graziano, M.A., PWCF Executive Director, Janalee Heinemann, M.S., PWSA (USA) Director of Medical Affairs, and Dr. Ann Scheimann, M.D., M.B.A, Gastroenterologist and PWS Specialist on PWSA USA's website, and I am choosing to include a large portion of a quote by them. It is so important:
"Over the following years, particularly with closer examination by PWS/GI specialist Ann Scheimann, M.D., it has become clearer that a great number of other people with PWS have a stomach that empties too slowly. In fact, Dr. Scheimann now believes it is highly probable that a significant number of people with PWS have some degree of a slow emptying stomach. The medical name of this disorder is gastroparesis: the muscles in the wall of the stomach work poorly and prevent the stomach from emptying properly. As a result, food stays in the stomach longer than it should. Over time, the volume of accumulated food in the stomach can cause the stomach to become full. Like a balloon that has too much air, the stomach of someone with PWS that contains too much food can respond in one of two ways: it will rupture or the food will push so hard against the stomach lining that it compresses and weakens the cells in the stomach. Both of these conditions cause massive internal infection and can quickly lead to death. (Please note that there has typically been a prior eating binge with most incidents of stomach necrosis and death – but not in all cases.)
Other important factors to consider are that some medications such as narcotic pain relievers and anticholinergic medications (group of bronchodilators) can also cause the stomach to empty too slowly (as well as cause dry mouth symptoms). Abnormally high blood glucose (sugar) levels or undetected hypothyroidism can also slow stomach emptying; therefore, it is important to control blood glucose levels and screen periodically for hypothyroidism."
So, you can see why poop is so important. Ellie takes a probiotic every day to help with regularity and in the future, we might add a prebiotic supplement as well.
Gastroparesis scares me to death. But, the more we know, the more we as parents, caretakers, and friends can help those with PWS. What are treatment options and strategies to help? "The most likely answer to how we treat the potential for gastroparesis and slow emptying bowel is to presume they exist and treat them as if they exist." (Graziano, Heinemann, and Scheimann).
The article points out the following treatment strategies (paraphrased):
- Food Security is key
- Serve meals/snacks at structured times
- Meal and snack should be healthy, low-calorie, lower carb
- Restrict all access to food
- Request information from notable PWS sources regarding GI issues.
- Obtain a consultation from a pediatric or adult gastro doctor, if GI issues are present.
- Consider, with the help of a physician the pros and cons of completing the Gastric Emptying Study.
- Consider, with the help of a physician certain medication to help with stomach emptying.
- Consult The Bristol Stool Chart, and talk about this with your physician
- Discuss use of over the counter medications like Miralax and probiotics.
- Refer your physician to a PWS GI expert
This is an area of PWS that might stink, no pun intended, ok...maybe a little. But in all seriousness, this is an area that should be talked about and everyone who has a loved one with PWS, should be educated on it.
Other super informative and important articles can be found here:
http://www.pwsausa.org/syndrome/medical.htm
and
http://www.fpwr.org/prader-willi-syndrome-diagnosis-treatments/
Friday, May 16, 2014
Diet
Ellie's diet is not like that of a typical 2 year old, and as she grows we will continue to strictly monitor it. We will also expect others to adhere to this, because her life depends on it.
I know several other PWS moms have addressed diet on their blogs and FB posts. I think Ali Shenk said it beautifully and I am paraphrasing and quoting her, diet is something that is personal to each PWS family. We each do our own research, learn our own child and do what is best for them. "PWS families, or anyone else, please do not take my advice as what is right for your child - you and your child's doctor need to determine that."
Ellie's diet is full of veggies, fruit, protein and good fat. She does follow a lower carb diet, after consulting our doctors and talking with other parents. Anecdotal and other evidence suggests that individuals with PWS do not process carbohydrates the same way a typical individual does...their body, instead of using carbohydrates for energy, converts them to fat. Many parents have noticed that if their child has more carbs, they will tend to be more fatigued/sluggish, a lot crankier, and food seek more. I have not noticed this really with Ellie, but we have been relatively low carb from the beginning with her. When she does have carbs, we do things like whole wheat toast, oatmeal, whole wheat noodles, beans, etc. She also gets carbs in the fruit, veggies, and protein, but it is certainly not as much as bread, noodles and oatmeal would be.
It is not us just being mean parents...not letting her have cookies, cake, cheese puffs, soda, etc...her body cannot metabolize food like that. She has not had traditional cake or cookies, and I definitely don't let her eat hand fulls of goldfish and cheerios...she gets about a shot glass full, and that is all. Luckily, we have great support on Facebook and on the Internet with low-carb recipes, food ideas, and nutritional support.
Our nutritionist, Melanie Silverman of Feeding Philosophies http://www.feedingphilosophies.com), has been such a huge blessing to me. She has walked with me every step of the way with Ellie's diet, because I have been, and will continue to be a nervous wreck about it. Every meal, and everything about food stresses me out. What do I feed her? How much? What do I tell someone that offers her things she can't have? How will we go to birthday parties? How will I respond to individuals that just don't get it? How will we navigate snack at school? What do I do if she asks for more? Will our family and friends really follow our expectations?
David and I are taking these approaches (now and in the future) regarding diet:
Let me tell you what Ellie enjoys the most right now...
This past Thursday and Friday, I had the awesome opportunity to bring snack to Ellie's class, and "Swap out the Sweets for Ellie." I sent home a letter to each child's parent explaining PWS and the importance of choosing nutritious options, and why it was so critical to our family. I took yogurt parfaits, with blueberries, strawberries, and bananas. I also gave the kids a few "better option cheese puffs." Most of the kids enjoyed everything, and some did not :-) Regardless, it was an amazing way to raise awareness for PWS, and for two days, everyone ate exactly what Ellie ate.
I reflect back over the past two years, and I can say with certainty that things have improved with my thoughts about our new normal. I remember having so much anxiety about Ellie's diet and literally almost had a panic attack in Yogurt Mountain in those early days. I looked around, and there was food everywhere. Ice cream easily accessible, chocolate, cherries, sprinkles, nuts, toppings wall to wall. I remember thinking, "We can never come here again. Ellie won't be safe. It would be so incredibly mean to bring her here and tempt her with all this." And this terrible sense of sadness came over me, grieving the fact that Ellie will not get to experience treats like a typical child does, and won't get to go into Yogurt Mountain and get whatever she wants. My mind still goes to dark places like that sometimes, but I am choosing to focus on the positive...our family will have "other treats not focused on food," we will be healthier, we will make better diet decisions thanks to Ellie, we enjoy our food more, and we will educate others on PWS and healthy diet, any chance we get!
I know several other PWS moms have addressed diet on their blogs and FB posts. I think Ali Shenk said it beautifully and I am paraphrasing and quoting her, diet is something that is personal to each PWS family. We each do our own research, learn our own child and do what is best for them. "PWS families, or anyone else, please do not take my advice as what is right for your child - you and your child's doctor need to determine that."
Ellie's diet is full of veggies, fruit, protein and good fat. She does follow a lower carb diet, after consulting our doctors and talking with other parents. Anecdotal and other evidence suggests that individuals with PWS do not process carbohydrates the same way a typical individual does...their body, instead of using carbohydrates for energy, converts them to fat. Many parents have noticed that if their child has more carbs, they will tend to be more fatigued/sluggish, a lot crankier, and food seek more. I have not noticed this really with Ellie, but we have been relatively low carb from the beginning with her. When she does have carbs, we do things like whole wheat toast, oatmeal, whole wheat noodles, beans, etc. She also gets carbs in the fruit, veggies, and protein, but it is certainly not as much as bread, noodles and oatmeal would be.
It is not us just being mean parents...not letting her have cookies, cake, cheese puffs, soda, etc...her body cannot metabolize food like that. She has not had traditional cake or cookies, and I definitely don't let her eat hand fulls of goldfish and cheerios...she gets about a shot glass full, and that is all. Luckily, we have great support on Facebook and on the Internet with low-carb recipes, food ideas, and nutritional support.
Our nutritionist, Melanie Silverman of Feeding Philosophies http://www.feedingphilosophies.com), has been such a huge blessing to me. She has walked with me every step of the way with Ellie's diet, because I have been, and will continue to be a nervous wreck about it. Every meal, and everything about food stresses me out. What do I feed her? How much? What do I tell someone that offers her things she can't have? How will we go to birthday parties? How will I respond to individuals that just don't get it? How will we navigate snack at school? What do I do if she asks for more? Will our family and friends really follow our expectations?
David and I are taking these approaches (now and in the future) regarding diet:
- We want Ellie to try/eat a variety of good, nutritious foods
- We will not introduce Ellie to things that have to be taken away later
- We will never use food as rewards
- We will help Ellie learn to make good, healthy meal choices as she gets older
- As a family, we will all make good diet choices (this is so hard, especially for me...I am a stress eater in the worst way).
- Once a meal is finished, that is all...no seconds
- We stick to a very scheduled meal structure: breakfast, snack, lunch, snack, dinner, milk
- Food is plated and put away, as not to distract
- Every meal is eaten at the table
Let me tell you what Ellie enjoys the most right now...
- Eggs
- Avacado
- Hummus
- Sauteed Vegetables
- Raisins
- Cheese
- Almond Milk
- Turkey
- Watermelon
- Cantaloupe
- Strawberries
- Blueberries
- Cottage Cheese
This past Thursday and Friday, I had the awesome opportunity to bring snack to Ellie's class, and "Swap out the Sweets for Ellie." I sent home a letter to each child's parent explaining PWS and the importance of choosing nutritious options, and why it was so critical to our family. I took yogurt parfaits, with blueberries, strawberries, and bananas. I also gave the kids a few "better option cheese puffs." Most of the kids enjoyed everything, and some did not :-) Regardless, it was an amazing way to raise awareness for PWS, and for two days, everyone ate exactly what Ellie ate.
Wednesday, May 14, 2014
Anxiety
Imagine how you feel when you haven't eaten all day...
Do you feel anxious?
PWS and anxiety go hand in hand. Individuals with PWS typically feel high levels of anxiety - all the time, and if there is a family history of anxiety, then they can often experience even higher levels. And to be quite honest, I am becoming anxious writing this post. What will this look like for Ellie? I know we have family history of anxiety, and that scares me. How will we help to calm her anxiety? How will I cope, seeing my child worry and become anxious around food and change?
It makes me just want to crawl up in a hole, to be frankly honest.
But, that wouldn't do any of us any good...
Regarding anxiety, there are several ways we an help Ellie cope. Anxiety often arises when there is change or perceived change. Obviously, we can't control every aspect of her life and shield her from all the change that could occur...but, we can provide structure, schedules (visual and oral), one-on-one supervision around food, and help her feel safe and in control. Obviously, any change that impacts food, is something individuals with PWS worry and become extremely anxious about. When can we eat? What will we be eating? Where will we be? How much can I have? I have often read from other parents, that individuals with PWS (because they feel hungry, all the time) worry that they will not be fed their next meal or snack (especially if something in the schedule changes). You can imagine...if your diet was being carefully regulated, and controlled by another individual (and you were hungry all the time) and you expected to be able to eat at noon...then the schedule of when you will get your next meal changes....worry, anxiety, fear, anger sets in and it is intense. If change does occur (and it will)...individuals with PWS must be reassured that the change in one area will not result in change in another.
"The most common identifiable thing that leads to challenging behavior is anxiety" (http://www.pws.org.nz/challenging-behaviours/).
I have heard more parents mention that the food issue is not the most challenging aspect of PWS. Diet can be controlled and measures can be taken to ensure food safety and supervision with all aspects involving food. But, what is the one thing that they say is the most challenging aspect of PWS? Behavior & Anxiety. So, this is clearly an area, that cannot be pushed away and tucked down deep and not addressed.
My goal as Ellie grows is to do all I can to learn more about best treatments and interventions for individuals with PWS, especially in the area of behavior and anxiety. I think trust and structure is key in alleviating anxiety, and as Ellie grows, that is our ultimate task. David and I will work with her to establish a calm, structured environment full of praise and trust.
Do you feel anxious?
PWS and anxiety go hand in hand. Individuals with PWS typically feel high levels of anxiety - all the time, and if there is a family history of anxiety, then they can often experience even higher levels. And to be quite honest, I am becoming anxious writing this post. What will this look like for Ellie? I know we have family history of anxiety, and that scares me. How will we help to calm her anxiety? How will I cope, seeing my child worry and become anxious around food and change?
It makes me just want to crawl up in a hole, to be frankly honest.
But, that wouldn't do any of us any good...
Regarding anxiety, there are several ways we an help Ellie cope. Anxiety often arises when there is change or perceived change. Obviously, we can't control every aspect of her life and shield her from all the change that could occur...but, we can provide structure, schedules (visual and oral), one-on-one supervision around food, and help her feel safe and in control. Obviously, any change that impacts food, is something individuals with PWS worry and become extremely anxious about. When can we eat? What will we be eating? Where will we be? How much can I have? I have often read from other parents, that individuals with PWS (because they feel hungry, all the time) worry that they will not be fed their next meal or snack (especially if something in the schedule changes). You can imagine...if your diet was being carefully regulated, and controlled by another individual (and you were hungry all the time) and you expected to be able to eat at noon...then the schedule of when you will get your next meal changes....worry, anxiety, fear, anger sets in and it is intense. If change does occur (and it will)...individuals with PWS must be reassured that the change in one area will not result in change in another.
"The most common identifiable thing that leads to challenging behavior is anxiety" (http://www.pws.org.nz/challenging-behaviours/).
I have heard more parents mention that the food issue is not the most challenging aspect of PWS. Diet can be controlled and measures can be taken to ensure food safety and supervision with all aspects involving food. But, what is the one thing that they say is the most challenging aspect of PWS? Behavior & Anxiety. So, this is clearly an area, that cannot be pushed away and tucked down deep and not addressed.
My goal as Ellie grows is to do all I can to learn more about best treatments and interventions for individuals with PWS, especially in the area of behavior and anxiety. I think trust and structure is key in alleviating anxiety, and as Ellie grows, that is our ultimate task. David and I will work with her to establish a calm, structured environment full of praise and trust.
Information taken from the following article: Reprinted from The Gathered View (ISSN 1077-9965), published bimonthly by the Prader-Willi Syndrome Association (USA). Prader-Willi Syndrome Association (USA), 8588 Potter Park Drive, Suite 500, Sarasota, Florida 34238
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