Q. What has been the biggest adjustment for your family, living with your daughter's diagnosis? What has been easier/harder than you expected?
A. I think my answers to these questions change, somewhat, as time goes by. S is only 7, so there are parts of PWS which we have not had to tackle yet! And I am trying to think in general terms here...I'm "wordy" to start with, and PWS is a complex syndrome which affects each child and family a little differently.
I think the biggest adjustment has been, simply, adjusting to the idea that S has special needs! This has changed who we are as parents, because we have an extra level of care we need to provide for S. We can't just "coast" with her - and by that I mean, we will never be able to assume much, about her future. For our older daughter, who does not have special needs, B and I can assume lots of things: that she'll be able to make friends with her peers, that she'll be able to finish high school, go to college, find a job which will support her without the help of state-run programs, move out into her own place, maintain a 'normal' relationship with boyfriend, and if she chooses, to eventually get married and have children. (And yes, I know we can all think of situations, among family/friends, where the "normal" kids in the family have not been able to do these things. But, I think generally, most parents assume their kids will do these things, and in most cases, their assumptions/expectations for their kids are fulfilled.)
S, on the other hand, will never be completely independent...I do have hope that research will discover things to help our children! But, for now, I am going on the assumption that S will always need some kind of supervision. This is neither good nor bad - it is, however, a reality to which we've had to adjust, as parents.
How we handle food issues, and how we even think about food, has been another adjustment! I think one of the most useful bits of advice to give to parents of newly-diagnosed children, is this: "start paying attention to the nutrition labels on every single bit of packaged food you buy, and buy a book which gives calorie counts for fresh foods"! The dietitian and the endocrinologist we see with S told us when we needed to really start counting her calories - and reading the nutrition labels for the calories-per-serving (among other info) was really enlightening. I was shocked to learn that there are over 100 calories per 1/4 cup of raisins...RAISINS! Do you know how often little kids eat raisins or dried fruit? I think because of the concentrated sugar, dried fruit is actually pretty high in calories. So we quickly cut that out of S's diet. We have made lots of other changes; we use Splenda although I've never been crazy about artificial sweeteners, we make good and constant use of measuring cups to make sure we're not giving S too much, things like that.
I know I have thought more about "food" in the past 7 years, than I ever expected. I have also become MUCH more aware of how ever-present food is in our society here in the states (maybe in other countries too, but I'm not well-travelled!). It is EVERYWHERE - ads about food everywhere you look - on buses, in magazines, on the radio, in the coupons we get in the junk mail. There are whole tv channels about cooking food. School fundraisers, generally, revolve around the sale of some food item. Classroom parties are, generally, junkfood-fests. Although teachers are getting away from this a bit, in many classrooms 'good' students are still rewarded with food. Want to show someone you love them? Give them a food-based gift. Halloween/Easter/Thanksgiving/Christmas? Holidays which for most people would not be quite the same without the food element. So, figuring out how to navigate through all of this, and still keep S healthy, has been a huge challenge, and will continue to be one.
I could go on, but I'll stop here. Thanks for reading!
Later,
Jen
Showing posts with label PWS questions. Show all posts
Showing posts with label PWS questions. Show all posts
Tuesday, March 22, 2011
Saturday, March 12, 2011
Prader-Willi Syndrome questions, 6A - How to help
[Further thoughts on the answer to this question, originally posted here.]
Q. My grandchild/niece/nephew/friend's child has just been diagnosed with PWS. How best can I be of help to them??
In addition to learning about the syndrome and respecting the decisions the parents make in the care of their child with PWS, there are some additional ways to help the individual with PWS and their immediate family:
-Keep your communication simple - at least until you get to know the child/adult better, and know at what cognitive level he/she functions.
-Approach the child/adult with "subdued emotion". PWS is a syndrome which is on the autism spectrum; actually, individuals with PWS are often also diagnosed with autism. What this means in terms of "subdued emotion" is that individuals with PWS are often uncomfortable with excessive emotion. It is as if that level of feeling - happy or sad - is more than they can handle.
-Don't take it personally when the individual with PWS responds in a grumpy/mean/hostile way, to something you've asked or said. Being able to regulate emotions is something which is managed by the hypothalamus, and since that gland is the one affected by PWS, emotions can swing between calm and happy, to upset and angry, over seemingly small things.
Finally, just a few words of advice on what not to say to parents of a child with PWS:
Later,
Jen
Q. My grandchild/niece/nephew/friend's child has just been diagnosed with PWS. How best can I be of help to them??
In addition to learning about the syndrome and respecting the decisions the parents make in the care of their child with PWS, there are some additional ways to help the individual with PWS and their immediate family:
- Because children with PWS are at their best when they live in an environment of routine and structure, be consistent when you spend time with that child (or adult!) with PWS. If you say you are going to do a certain activity with them, then do that activity with them. Do not ever, ever, ever mention something in passing to that child, if you have even the slightest doubt about being able to act on it. Also, once the child knows about an upcoming activity, they will often become obsessive about it. So, if at all possible, don't talk about events or activities with the child, which are happening any further into the future than that day or possibly the next day!
- Parents of children with PWS often find that attending family parties or holiday gatherings are extremely stressful situations - because these events so often center around a huge meal or a big table packed with food! Obviously this creates not just an anxious situation for the child with PWS (if you felt you were starving, constantly, wouldn't you feel overwrought at such a display?), but a dangerous one as well. Children with PWS cannot sense when their stomach is full-to-bursting, and so when well-meaning relatives keep slipping the child "a little of this" and "a little of that"...well, pretty soon that child will need to be rushed to the emergency room. Thus, if a parent of a child with PWS tells you that in order for their family to be able to also enjoy a family party or a holiday gathering, some adjustments to the menu and the eating schedule would be necessary, listen to them. Yes, it may mean that some eating traditions will have to change...so what? You can make new ones, right? And, what is more important: being able to see your grandchild/niece/nephew/family friends, or having a table overstuffed with way more food than anyone should eat?
-Keep your communication simple - at least until you get to know the child/adult better, and know at what cognitive level he/she functions.
-Approach the child/adult with "subdued emotion". PWS is a syndrome which is on the autism spectrum; actually, individuals with PWS are often also diagnosed with autism. What this means in terms of "subdued emotion" is that individuals with PWS are often uncomfortable with excessive emotion. It is as if that level of feeling - happy or sad - is more than they can handle.
-Don't take it personally when the individual with PWS responds in a grumpy/mean/hostile way, to something you've asked or said. Being able to regulate emotions is something which is managed by the hypothalamus, and since that gland is the one affected by PWS, emotions can swing between calm and happy, to upset and angry, over seemingly small things.
Finally, just a few words of advice on what not to say to parents of a child with PWS:
- "She'll grow out of it!" Ummm, no, she/he won't grow out of it. It's a genetic syndrome, it's part of him/her forever.
- "Hmmmm, he/she is always hungry and asking for food? Wow, maybe that's what my dog has!" Yes, indeed, this is a comment that is made.
- "You worry about (fill in the blank), with your child with PWS?? Oh, that's nothing - all parents worry about their children!" Really? Do you worry about your child ever having real friends, once her challenges become obvious to her peers? Do you worry about your child eating out of a trash can at school? Do you have to lock your refrigerator and cupboards, because your child will get up in the middle of the night and possibly have a fatal eating episode? I have found it exceedingly frustrating when other parents say "oh, my parenting experience with my non-diagnosis children is just like your experience with S!", because in essence what they are saying is that they don't think my experiences are real, that I don't have any extraordinary challenges on a daily basis. And while I know people sometimes say things in an effort to make me "feel better", or in an effort to seem understanding, honestly I can say that most parents of special-needs-children simply want to be heard. They want their experiences to be validated and accepted for the very real things they are. We aren't kidding, folks. PWS sucks, and this is hard. It IS an out-of-the-ordinary life. My child's constant hunger is NOT like your "normal" toddler asking for a snack a few times a day: for S this is HER LIFE, for your toddler it is A PHASE.
Later,
Jen
Friday, February 25, 2011
Prader-Willi Syndrome Questions, #6: What can I do to help my newly-diagnosed relative/family friend?
Q. My grandchild/niece/nephew/friend's child has just been diagnosed with PWS. How best can I be of help to them??
A. This is an excellent question, as obviously it is more than just the child, and the child's immediate family, who will be affected - both short-term and long-term - by the Prader-Willi Syndrome diagnosis. [As a side note - to any of my own family who might be reading this...rest assured you have been very supportive of our routines with S! If the families and friends of all PWS families could be supportive as you have been, that would be great!!]
The first thing that those involved in the child's life should do, is learn about the syndrome. The best way to do this is to visit http://www.pwsausa.org/, which is the website for PWSA(USA), the national Prader-Willi Syndrome organization in the United States. There is also an international organization, IPWSO, which also has a website, http://www.ipwso.org/. Both of these organizations are well-equipped to not only provide immediate and crisis-based assistance, but they are a great place to start in terms of connecting with local/state organizations, which will then put you in contact with families or parent mentors near you, if you wish. I strongly encourage parents, caregivers, and all extended family members of the individual with PWS to connect with these organizations and local PWS organizations, and stay connected permanently by maintaining membership. The support and advice gained from connecting with other families is, in my opinion, crucial to providing the child-with-PWS and his/her caregivers with much needed, and appropriate, support.
The second thing you should do, as you learn about the syndrome, is take everything you learn about it with a nice helping of objectivity! PWS is very much a "spectrum" syndrome, which means that descriptions of its symptoms are of necessity very comprehensive and will cover every last medical/behavioral/psychological observation of individuals with PWS, if they happen in enough cases. This does not mean that every single one of those will happen with the child you know. Those comprehensive descriptions should be used as education, not as prediction.
The third thing you should plant in your brain, as you are supportive of the parents of the newly-diagnosed individual, is that THE PARENTS ARE THE EXPERTS ABOUT THEIR CHILD.
Let me repeat this, because it is important: THE PARENTS ARE THE EXPERTS ABOUT THEIR CHILD. They are the people living with the syndrome, trying to raise the child with PWS, day-in and day-out. If you are spending time with the family, you must absolutely respect the policies and procedures, systems and routines that the parents have put in place for their child with PWS. Raising a child with this syndrome is, without a doubt, going to look different than perhaps what you did with your children - and that is okay, it is necessary for the health and safety of the child with PWS for the parent/caregivers to do exactly what they are doing. If you have concerns, ask the parents in a respectful way, for the purposes of educating yourself but NOT with the goal of changing what the parents are doing. Further, if the parents/caregivers of the child with PWS have gotten to the phase where their child is on a restricted-calorie diet, and every calorie is counted, DO NOT feed that child anything without first asking the parent/caregiver. This means, do not even feed the child a cookie...or a juice box...or even a stick of gum. Nothing. Calories are calories are calories, and when a parent is counting calories for their child with PWS, your action of giving that child food/drink of any kind is an act of disrespect to what that parent is trying to do for their child!
I think there is more I can say in answer to this question - but I'll stop here for now.
Later,
Jen
A. This is an excellent question, as obviously it is more than just the child, and the child's immediate family, who will be affected - both short-term and long-term - by the Prader-Willi Syndrome diagnosis. [As a side note - to any of my own family who might be reading this...rest assured you have been very supportive of our routines with S! If the families and friends of all PWS families could be supportive as you have been, that would be great!!]
The first thing that those involved in the child's life should do, is learn about the syndrome. The best way to do this is to visit http://www.pwsausa.org/, which is the website for PWSA(USA), the national Prader-Willi Syndrome organization in the United States. There is also an international organization, IPWSO, which also has a website, http://www.ipwso.org/. Both of these organizations are well-equipped to not only provide immediate and crisis-based assistance, but they are a great place to start in terms of connecting with local/state organizations, which will then put you in contact with families or parent mentors near you, if you wish. I strongly encourage parents, caregivers, and all extended family members of the individual with PWS to connect with these organizations and local PWS organizations, and stay connected permanently by maintaining membership. The support and advice gained from connecting with other families is, in my opinion, crucial to providing the child-with-PWS and his/her caregivers with much needed, and appropriate, support.
The second thing you should do, as you learn about the syndrome, is take everything you learn about it with a nice helping of objectivity! PWS is very much a "spectrum" syndrome, which means that descriptions of its symptoms are of necessity very comprehensive and will cover every last medical/behavioral/psychological observation of individuals with PWS, if they happen in enough cases. This does not mean that every single one of those will happen with the child you know. Those comprehensive descriptions should be used as education, not as prediction.
The third thing you should plant in your brain, as you are supportive of the parents of the newly-diagnosed individual, is that THE PARENTS ARE THE EXPERTS ABOUT THEIR CHILD.
Let me repeat this, because it is important: THE PARENTS ARE THE EXPERTS ABOUT THEIR CHILD. They are the people living with the syndrome, trying to raise the child with PWS, day-in and day-out. If you are spending time with the family, you must absolutely respect the policies and procedures, systems and routines that the parents have put in place for their child with PWS. Raising a child with this syndrome is, without a doubt, going to look different than perhaps what you did with your children - and that is okay, it is necessary for the health and safety of the child with PWS for the parent/caregivers to do exactly what they are doing. If you have concerns, ask the parents in a respectful way, for the purposes of educating yourself but NOT with the goal of changing what the parents are doing. Further, if the parents/caregivers of the child with PWS have gotten to the phase where their child is on a restricted-calorie diet, and every calorie is counted, DO NOT feed that child anything without first asking the parent/caregiver. This means, do not even feed the child a cookie...or a juice box...or even a stick of gum. Nothing. Calories are calories are calories, and when a parent is counting calories for their child with PWS, your action of giving that child food/drink of any kind is an act of disrespect to what that parent is trying to do for their child!
I think there is more I can say in answer to this question - but I'll stop here for now.
Later,
Jen
Tuesday, February 15, 2011
Prader-Willi Syndrome Question 5: How do you structure meals and snacks?
Q. How do you structure your daughter's meals and snacks - do you keep her on a schedule?
A. Yes, S is very much on a schedule. She eats about every two hours or so, except for the hours between dinner and bedtime. She has three meals a day and two snacks.
In order to be successful at managing the PWS lifestyle for S, we had to do this. There could no longer be a pattern of just open snacking all day long - not for us, and not for her sister, either. K was only 4.5 years old when S was born, but by the time S turned 2, we were on a schedule. We all eat at the same times - if S can't eat, then no-one eats. It may sound harsh - and believe me, there are many times when I regret having skipped a meal, because I am of course feeling incredibly hungry but I know it would be a mistake to eat before S can eat too - but this has worked very well for us, and it is a system which I recommend to any other PWS families I have opportunity to speak with, especially if there are other children in the family. The child-with-PWS needs to have it made clear, as early on as possible, that they cannot eat or snack all day long - this is so important to teach them, because of course they will be getting that hunger signal constantly. I have tried to explain to S that the signal is just a mistake - that it's Prader-Willi Syndrome tricking her into thinking she's hungry. I've even tried to explain to her that her stomach still has food in it from the last time she ate, that her stomach needs at least two hours to digest before putting more food in...at this point she is too young to really get these explanations. She may not be able to really understand PWS until she's much older, and perhaps not even then, so trying to explain it to her may or may not help.
So, the very best thing parents of children with PWS can do, is to get on a schedule for eating and snacking. That way, the clock becomes their ally - when their child begins to ask about eating and becomes anxious (as I would too, if I felt like I were starving and were worried about obtaining more food), the parent/caregiver can point to the clock and say, we will eat again in _____________minutes. I used to use the timer on the microwave or oven, because setting the timer for the next time S could have something to eat seemed to help her think about something else for a while. It was as if the timer was then doing the worrying for her, and she could do something else and just wait for the beep. She now knows how to tell time - plus we have chiming clocks in the house - so she doesn't need the timers as much anymore. Getting on a schedule of eating every two hours or so also helps to keep the blood sugar levels constant - so that whatever intensity of hunger S is feeling isn't made more extreme by a huge dip in blood sugar levels. There has to be structure to the eating schedule for kids with PWS, because food is, ultimately, everything to them. Yes, they do have hobbies, and can do some of the things other kids can do - but as a parent I do not ever, ever mess around when it comes to food with S. I have learned to be prepared, to take snack with me if necessary, to plan outings/errands around the time between meals and snacks, because I understand what part food plays in S's daily life. It's not always fun, and I've spent more time thinking about "food" in the past 7 years than I ever have before, but thus far it has been manageable, thank God.
Later (and thanks Rachel for the question!),
Jen
A. Yes, S is very much on a schedule. She eats about every two hours or so, except for the hours between dinner and bedtime. She has three meals a day and two snacks.
In order to be successful at managing the PWS lifestyle for S, we had to do this. There could no longer be a pattern of just open snacking all day long - not for us, and not for her sister, either. K was only 4.5 years old when S was born, but by the time S turned 2, we were on a schedule. We all eat at the same times - if S can't eat, then no-one eats. It may sound harsh - and believe me, there are many times when I regret having skipped a meal, because I am of course feeling incredibly hungry but I know it would be a mistake to eat before S can eat too - but this has worked very well for us, and it is a system which I recommend to any other PWS families I have opportunity to speak with, especially if there are other children in the family. The child-with-PWS needs to have it made clear, as early on as possible, that they cannot eat or snack all day long - this is so important to teach them, because of course they will be getting that hunger signal constantly. I have tried to explain to S that the signal is just a mistake - that it's Prader-Willi Syndrome tricking her into thinking she's hungry. I've even tried to explain to her that her stomach still has food in it from the last time she ate, that her stomach needs at least two hours to digest before putting more food in...at this point she is too young to really get these explanations. She may not be able to really understand PWS until she's much older, and perhaps not even then, so trying to explain it to her may or may not help.
So, the very best thing parents of children with PWS can do, is to get on a schedule for eating and snacking. That way, the clock becomes their ally - when their child begins to ask about eating and becomes anxious (as I would too, if I felt like I were starving and were worried about obtaining more food), the parent/caregiver can point to the clock and say, we will eat again in _____________minutes. I used to use the timer on the microwave or oven, because setting the timer for the next time S could have something to eat seemed to help her think about something else for a while. It was as if the timer was then doing the worrying for her, and she could do something else and just wait for the beep. She now knows how to tell time - plus we have chiming clocks in the house - so she doesn't need the timers as much anymore. Getting on a schedule of eating every two hours or so also helps to keep the blood sugar levels constant - so that whatever intensity of hunger S is feeling isn't made more extreme by a huge dip in blood sugar levels. There has to be structure to the eating schedule for kids with PWS, because food is, ultimately, everything to them. Yes, they do have hobbies, and can do some of the things other kids can do - but as a parent I do not ever, ever mess around when it comes to food with S. I have learned to be prepared, to take snack with me if necessary, to plan outings/errands around the time between meals and snacks, because I understand what part food plays in S's daily life. It's not always fun, and I've spent more time thinking about "food" in the past 7 years than I ever have before, but thus far it has been manageable, thank God.
Later (and thanks Rachel for the question!),
Jen
Tuesday, February 8, 2011
Prader-Willi Syndrome Question 4: Is there a cure for Prader-Willi Syndrome?
Q. Is there a cure for Prader-Willi Syndrome?
A. No, there currently is no cure for PWS. Since this syndrome is genetically-based, any kind of "cure" will involve altering the pathways of many different signals sent from the hypothalamus to the rest of the body. Finding a cure for PWS involves lots and lots and lots and lots of research! The tough part about that, is that because the PWS community itself is not large, pharmaceutical companies (who would stand to make the most money from any drug-based therapies seen as a 'cure' for PWS) would not initially be making a ton of money - and so they aren't chomping at the bit to fund PWS research, unfortunately. That is why fundraising efforts involving the PWS community are SO important, because compared to the amount of funding given to research efforts and quality-of-life supports for something like cancer, PWS is woefully UNDER-FUNDED. This is very frustrating to parents and caregivers of individuals who struggle with PWS - we'd like a cure too. Quality-of-life is just as much an issue for my child, even though she's not undergoing chemo or radiation or losing all her hair!
Sometimes people have asked whether appetite suppressants, or surgeries like bariatric surgery, are of any help for people with PWS - as these would seem to address the extreme, constant, deadly hunger sensations which are such a threat to those with PWS. Unfortunately, appetite suppressants and surgeries have proven unsuccessful with, and actually very dangerous for, people with PWS. You see, PWS is not really about appetite, or the size of the stomach. It involves an erroneous signal being consistently sent from the hypothalamus to the hunger centers in the brain, and the signal is constantly giving the "you're hungry, you're hungry" message. The message keeps coming even when the person's stomach is full to the brim with food. Appetite suppressants don't turn off that signal; and surgeries which alter the stomach's size definitely do not turn off that signal.
How do I personally feel, as a parent of a child with PWS, about there someday being a "cure"? Well....of course I would love for there to be some kind of drug that S could take, or safe surgical procedure that could be done, which could relieve her of even half of what she goes through every day. I would especially love it if some smart researcher could formulate a drug which could turn off that hunger signal...that, for S, is the hardest part of this. No surprise there - of course it is hard for her to think about much else, when her brain is telling her she is starving, every second of every day! But I am also realistic about the "cure" idea. PWS is genetic, which means it is embedded in every single cell of her body. Whatever might be found to help the PWS community will involve some pretty complex research and, at this rate of funding, is still some years down the road. So I do have hope for some kind of cure, but I know that we have to wait...hopefully something will be discovered in S's lifetime.
While much, much more research is needed, I am encouraged to know that there is research currently being done on PWS, how it happens, how the genes in question work exactly, what role the hypothalamus plays in satiety and obesity, and what might be done to address the challenges caused by PWS. The general population should be excited by PWS research as well, because if some of these questions about the "mechanics" of PWS can be answered, then questions about obesity itself will hopefully get answered as well. If we can better understand why we eat what we eat, I think we may all be better off.
For more information about Prader-Willi Syndrome, and to donate towards research and quality-of-life resources, visit http://www.pwsausa.org/ OR http://www.pwsaohio.org/.
Later,
Jen
A. No, there currently is no cure for PWS. Since this syndrome is genetically-based, any kind of "cure" will involve altering the pathways of many different signals sent from the hypothalamus to the rest of the body. Finding a cure for PWS involves lots and lots and lots and lots of research! The tough part about that, is that because the PWS community itself is not large, pharmaceutical companies (who would stand to make the most money from any drug-based therapies seen as a 'cure' for PWS) would not initially be making a ton of money - and so they aren't chomping at the bit to fund PWS research, unfortunately. That is why fundraising efforts involving the PWS community are SO important, because compared to the amount of funding given to research efforts and quality-of-life supports for something like cancer, PWS is woefully UNDER-FUNDED. This is very frustrating to parents and caregivers of individuals who struggle with PWS - we'd like a cure too. Quality-of-life is just as much an issue for my child, even though she's not undergoing chemo or radiation or losing all her hair!
Sometimes people have asked whether appetite suppressants, or surgeries like bariatric surgery, are of any help for people with PWS - as these would seem to address the extreme, constant, deadly hunger sensations which are such a threat to those with PWS. Unfortunately, appetite suppressants and surgeries have proven unsuccessful with, and actually very dangerous for, people with PWS. You see, PWS is not really about appetite, or the size of the stomach. It involves an erroneous signal being consistently sent from the hypothalamus to the hunger centers in the brain, and the signal is constantly giving the "you're hungry, you're hungry" message. The message keeps coming even when the person's stomach is full to the brim with food. Appetite suppressants don't turn off that signal; and surgeries which alter the stomach's size definitely do not turn off that signal.
How do I personally feel, as a parent of a child with PWS, about there someday being a "cure"? Well....of course I would love for there to be some kind of drug that S could take, or safe surgical procedure that could be done, which could relieve her of even half of what she goes through every day. I would especially love it if some smart researcher could formulate a drug which could turn off that hunger signal...that, for S, is the hardest part of this. No surprise there - of course it is hard for her to think about much else, when her brain is telling her she is starving, every second of every day! But I am also realistic about the "cure" idea. PWS is genetic, which means it is embedded in every single cell of her body. Whatever might be found to help the PWS community will involve some pretty complex research and, at this rate of funding, is still some years down the road. So I do have hope for some kind of cure, but I know that we have to wait...hopefully something will be discovered in S's lifetime.
While much, much more research is needed, I am encouraged to know that there is research currently being done on PWS, how it happens, how the genes in question work exactly, what role the hypothalamus plays in satiety and obesity, and what might be done to address the challenges caused by PWS. The general population should be excited by PWS research as well, because if some of these questions about the "mechanics" of PWS can be answered, then questions about obesity itself will hopefully get answered as well. If we can better understand why we eat what we eat, I think we may all be better off.
For more information about Prader-Willi Syndrome, and to donate towards research and quality-of-life resources, visit http://www.pwsausa.org/ OR http://www.pwsaohio.org/.
Later,
Jen
Monday, January 24, 2011
PWS questions #3: What is Prader-Willi Syndrome??
Q. "Prader-what? I've never heard of Prader-Willi Syndrome; what is it? How does it affect your daughter?"
A. Without a doubt, every parent or close family member of an individual with PWS has gotten this question multiple times...and has probably also developed their own "stock answer" for it!
Prader-Willi Syndrome is a genetic syndrome affecting the 15th chromosome pair. It occurs in 1 out of every 12,000 - 15,000 births - which makes it both relatively rare, and also more common than you might think! PWS is the most common genetically-based cause of obesity in children. It is found in both genders and all ethnicities.
PWS looks one way from birth to ages 2-6: Infants have extremely low muscle tone, a weak-to-nonexistent cry and almost no ability to coordinate feeding/breathing. Many infants with PWS have stays in the NICU, and many are discharged with either naso-gastric or direct gastric tubes for feeding. Infants with PWS are generally extremely lethargic and sleepy, and must be fed on a strict schedule as otherwise they would sleep to the possible point of starvation; infants w/PWS are generally labelled "failure to thrive" at this stage.
The PWS diagnostic process is usually begun shortly after birth, and while there are obvious clinical signs which SHOULD alert a neonatalogist/pediatrician to PWS, a definitive PWS diagnosis involves bloodwork.
This complex syndrome, characterized by poor feeding and slow weight gain at first, takes a 180-degree turn sometime between the ages of 2 and 6 years old. The child with PWS begins to experience hyperphagia, which is an uncontrollable appetite and 24/7 feelings of hunger even after the child has eaten a regular meal. The metabolism is affected with this syndrome, such that individuals with PWS gain weight twice-as-fast on half the calories. This, combined with the hyperphagia, requires that the food/caloric intake of a person with PWS be strictly monitored at all time; without supervision it is possible for the individual to either consistently over-eat (which for them can look like the average person's 2,000 calorie day) to the point of morbid obesity/diabetes/heart complications. Individuals with PWS require restricted access to food and constant supervision; without these measures it is then possible for them to consume enough food at one sitting to cause their stomach to rupture, leading to death.
Individuals with PWS often also experience: Cognitive delays, gross-motor delays (walking), moderate-to-severe scoliosis, speech delays, dental issues....in PWS the hypothalamus is affected, and this small endocrine organ is extremely important to hunger/satiety, pain sensation, bodily temperature regulation, fluid balance, emotions, puberty and fertility. So, you can see that once the hypothalamus is affected, as it is with PWS, this causes many, many ripples of consequence.
My own personal take on this complex, challenging, sometimes aggravating syndrome? It sucks. I love my S-girl and I don't need to "fix" her, but this syndrome puts her, and all the other individuals who have it, through h-e-double-hockey-sticks.
Later,
Jen
A. Without a doubt, every parent or close family member of an individual with PWS has gotten this question multiple times...and has probably also developed their own "stock answer" for it!
Prader-Willi Syndrome is a genetic syndrome affecting the 15th chromosome pair. It occurs in 1 out of every 12,000 - 15,000 births - which makes it both relatively rare, and also more common than you might think! PWS is the most common genetically-based cause of obesity in children. It is found in both genders and all ethnicities.
PWS looks one way from birth to ages 2-6: Infants have extremely low muscle tone, a weak-to-nonexistent cry and almost no ability to coordinate feeding/breathing. Many infants with PWS have stays in the NICU, and many are discharged with either naso-gastric or direct gastric tubes for feeding. Infants with PWS are generally extremely lethargic and sleepy, and must be fed on a strict schedule as otherwise they would sleep to the possible point of starvation; infants w/PWS are generally labelled "failure to thrive" at this stage.
The PWS diagnostic process is usually begun shortly after birth, and while there are obvious clinical signs which SHOULD alert a neonatalogist/pediatrician to PWS, a definitive PWS diagnosis involves bloodwork.
This complex syndrome, characterized by poor feeding and slow weight gain at first, takes a 180-degree turn sometime between the ages of 2 and 6 years old. The child with PWS begins to experience hyperphagia, which is an uncontrollable appetite and 24/7 feelings of hunger even after the child has eaten a regular meal. The metabolism is affected with this syndrome, such that individuals with PWS gain weight twice-as-fast on half the calories. This, combined with the hyperphagia, requires that the food/caloric intake of a person with PWS be strictly monitored at all time; without supervision it is possible for the individual to either consistently over-eat (which for them can look like the average person's 2,000 calorie day) to the point of morbid obesity/diabetes/heart complications. Individuals with PWS require restricted access to food and constant supervision; without these measures it is then possible for them to consume enough food at one sitting to cause their stomach to rupture, leading to death.
Individuals with PWS often also experience: Cognitive delays, gross-motor delays (walking), moderate-to-severe scoliosis, speech delays, dental issues....in PWS the hypothalamus is affected, and this small endocrine organ is extremely important to hunger/satiety, pain sensation, bodily temperature regulation, fluid balance, emotions, puberty and fertility. So, you can see that once the hypothalamus is affected, as it is with PWS, this causes many, many ripples of consequence.
My own personal take on this complex, challenging, sometimes aggravating syndrome? It sucks. I love my S-girl and I don't need to "fix" her, but this syndrome puts her, and all the other individuals who have it, through h-e-double-hockey-sticks.
Later,
Jen
Tuesday, January 11, 2011
PWS questions #2
Q. "What is 'GH therapy', and why do children with Prader-Willi Syndrome often do this?"
My answer: "GH therapy" stands for growth hormone therapy. Children who have Prader-Willi Syndrome are, very often, given daily injections of human growth hormone. In June 2000 growth hormone was the first (and to date the only) drug approved by the U.S. Food & Drug Administration (FDA) for the treatment of Prader-Willi syndrome. GH therapy, if not covered by health insurance (or Medicaid, or a combination) would cost around $12,000 a year. Families living outside the United States often have a much more difficult time starting their children on GH th. before the age of two, and sometimes it is difficult to obtain it at all. It has been shown, by clinical studies done within the last 5 years, that GH therapy can (in most cases) be safely begun in infants, and also that it continues to provide benefits in individuals-with-PWS all the way up through adulthood. However, GH therapy is not a "cure" for PWS. It definitely does help make some aspects of the syndrome more manageable. But it is not a mandatory treatment, and there are parents who choose not to pursue it with their child.
So, what does GH th. do for individuals with PWS? Well, that word "growth" provides some idea of the benefits of the daily injections. But there is a whole list of benefits, "including but not limited to improvements in lean body mass, decreased body fat, increased bone mineral density, normalization of adult height, improved strength, agility, motor development, improved nitrogen balance, and improved energy expenditure" (quoted from the Clinical Advisory Board Consensus Statement from PWSA(USA.) ). For S, I firmly believe that she would not be doing as well as she is, at the moment, had we not started GH therapy. We began this with her when she was just 10 months old, but clearly, reading the above list of benefits of the therapy and having met adults who have recently begun GH shots, it is beneficial for individuals-with-PWS regardless of when they begin it.
S does not mind the injections. Even with the heightened pain tolerance which is part of the syndrome, she does still feel the needle, but I think she is used to it, and B and I just get through it and make as little fuss about it as possible. If we were to really zero in on whatever pain she might feel from the injections, the process would quickly become a huge production - and I have no desire to have to pin S down to do the shots. I'm sure she feels it. She occasionally has bruises in her injection sites (left and right thighs, left and right buttocks). In time we may be able to add left/right sides of the abdomen as well). At some point she will probably be really excited to be able to give herself the shots - she is really, really interested in anything medical in nature (she'd probably request her own box of those plastic gloves).
So, that is my "explanation" of growth hormone therapy!
Jen
My answer: "GH therapy" stands for growth hormone therapy. Children who have Prader-Willi Syndrome are, very often, given daily injections of human growth hormone. In June 2000 growth hormone was the first (and to date the only) drug approved by the U.S. Food & Drug Administration (FDA) for the treatment of Prader-Willi syndrome. GH therapy, if not covered by health insurance (or Medicaid, or a combination) would cost around $12,000 a year. Families living outside the United States often have a much more difficult time starting their children on GH th. before the age of two, and sometimes it is difficult to obtain it at all. It has been shown, by clinical studies done within the last 5 years, that GH therapy can (in most cases) be safely begun in infants, and also that it continues to provide benefits in individuals-with-PWS all the way up through adulthood. However, GH therapy is not a "cure" for PWS. It definitely does help make some aspects of the syndrome more manageable. But it is not a mandatory treatment, and there are parents who choose not to pursue it with their child.
So, what does GH th. do for individuals with PWS? Well, that word "growth" provides some idea of the benefits of the daily injections. But there is a whole list of benefits, "including but not limited to improvements in lean body mass, decreased body fat, increased bone mineral density, normalization of adult height, improved strength, agility, motor development, improved nitrogen balance, and improved energy expenditure" (quoted from the Clinical Advisory Board Consensus Statement from PWSA(USA.) ). For S, I firmly believe that she would not be doing as well as she is, at the moment, had we not started GH therapy. We began this with her when she was just 10 months old, but clearly, reading the above list of benefits of the therapy and having met adults who have recently begun GH shots, it is beneficial for individuals-with-PWS regardless of when they begin it.
S does not mind the injections. Even with the heightened pain tolerance which is part of the syndrome, she does still feel the needle, but I think she is used to it, and B and I just get through it and make as little fuss about it as possible. If we were to really zero in on whatever pain she might feel from the injections, the process would quickly become a huge production - and I have no desire to have to pin S down to do the shots. I'm sure she feels it. She occasionally has bruises in her injection sites (left and right thighs, left and right buttocks). In time we may be able to add left/right sides of the abdomen as well). At some point she will probably be really excited to be able to give herself the shots - she is really, really interested in anything medical in nature (she'd probably request her own box of those plastic gloves).
So, that is my "explanation" of growth hormone therapy!
Jen
Wednesday, January 5, 2011
PWS questions
Hi all,
One thing I want to do with this blog, especially for friends/family/acquaintances who may be reading and who may have questions about Prader-Willi Syndrome and how we live with it, is answer some of those questions. Or at least, provide answers to some of the questions which I think the general public might ask, if given the opportunity. So here goes, question #1:
Q. "Since S has PWS and, because of that you are supposed to be counting her calories and watching what she eats, why then do you still go to McDonald's or go out to eat?"
A. Ah, yes. The McDonald's question. Well, I guess my first response is that, even though S does have PWS, and even though that does dictate a good deal of what and how I feed my family, PWS doesn't - and can't - control every single aspect of our lives. Perhaps if S were and only child, as a family we would definitely live differently. But, she is not an only child - we have two daughters, and K does not have any eating restrictions. She doesn't even have any food allergies, and she doesn't have any weight problems. In addition, she is a busy 6th-grader who, two evenings a week, takes a dance class at a studio which is at least 20 minutes away. Because of that and the time at which her classes happen, the dinner choices on those two evenings are affected, whether I like it or not. So my options on those two days are these: eat out (hence McD's for one of those days), or eat dinner at home at what I consider to be an insane hour (4:30), or pack some kind of "dinner" into a cooler and eat it at the dance studio.
However, sometimes, even with the presence of PWS, parents have to make choices. Because I am able to purchase a calorie-restricted meal for S at McD's, I choose to do that so that the hours surrounding our excursion to the dance studio don't turn into a huge production - which in and of itself would definitely "up the stress level" for myself and the girls. I try to make life as simple as possible for all of us, while still attempting (for the most part, successfully) to keep S as healthy as possible. (And please spare me the "McD's food is the least healthy food on the planet lecture". Thanks.) I have said this before: even with a PWS diagnosis, my family does not live in a vacuum where everything can be dictated by the vagaries of the syndrome. Does S's health still take priority, when we are having a meal? Yes, indeed it does. Do we still control her portions, and consistently remind her that we have to follow the rules when it comes to food? Yes, indeed we do. At the same time, I am required to find a livable middle road between one child who has food-based health concerns, and an older child who has none. S's imperative is "when will we eat next, and what will it be?" K's current imperative is living life as similar as possible to the way she sees her peers living it. My current imperative is somehow find the livable center amongst the two of them, while maintaining my sanity. Does this sometimes mean eating out, and as we do so making the healthieast choices we can for S? Yes. Much as the PWS purists out there might disapprove, this is what we have found, that works for us. Some families go completely vegan/vegetarian/glutein-free/low-carb/high protein, as soon as the PWS diagnosis enters their lives. Some families completely stop going out to eat at all. Some families swear off any and all foods that they consider "unhealthy". Whatever works for them is fine, and if their child/children are still well-cared for and healthy, and thriving, then they've made reasonable choices. In our case, B and I chose to keep our lifestyle as even-keeled, and realistic, as possible - especially because we have two children. After all, it is possible that we won't be the only ones caring for S her whole life; and we ourselves don't live in a bubble.
I guess the bottom line, in answering a question like this, is just as PWS manifests differently for every child diagnosed, so does that child's family adjust to and deal with it differently. What works for us and for S, might not work for another child/family. I know there are probably quite a few parents out there who might judge me quite harshly for how we deal with things. But, it is what it is, and we do the best we can - and for all of our potential mistakes in this area, S seems to be doing just fine.
J.
One thing I want to do with this blog, especially for friends/family/acquaintances who may be reading and who may have questions about Prader-Willi Syndrome and how we live with it, is answer some of those questions. Or at least, provide answers to some of the questions which I think the general public might ask, if given the opportunity. So here goes, question #1:
Q. "Since S has PWS and, because of that you are supposed to be counting her calories and watching what she eats, why then do you still go to McDonald's or go out to eat?"
A. Ah, yes. The McDonald's question. Well, I guess my first response is that, even though S does have PWS, and even though that does dictate a good deal of what and how I feed my family, PWS doesn't - and can't - control every single aspect of our lives. Perhaps if S were and only child, as a family we would definitely live differently. But, she is not an only child - we have two daughters, and K does not have any eating restrictions. She doesn't even have any food allergies, and she doesn't have any weight problems. In addition, she is a busy 6th-grader who, two evenings a week, takes a dance class at a studio which is at least 20 minutes away. Because of that and the time at which her classes happen, the dinner choices on those two evenings are affected, whether I like it or not. So my options on those two days are these: eat out (hence McD's for one of those days), or eat dinner at home at what I consider to be an insane hour (4:30), or pack some kind of "dinner" into a cooler and eat it at the dance studio.
However, sometimes, even with the presence of PWS, parents have to make choices. Because I am able to purchase a calorie-restricted meal for S at McD's, I choose to do that so that the hours surrounding our excursion to the dance studio don't turn into a huge production - which in and of itself would definitely "up the stress level" for myself and the girls. I try to make life as simple as possible for all of us, while still attempting (for the most part, successfully) to keep S as healthy as possible. (And please spare me the "McD's food is the least healthy food on the planet lecture". Thanks.) I have said this before: even with a PWS diagnosis, my family does not live in a vacuum where everything can be dictated by the vagaries of the syndrome. Does S's health still take priority, when we are having a meal? Yes, indeed it does. Do we still control her portions, and consistently remind her that we have to follow the rules when it comes to food? Yes, indeed we do. At the same time, I am required to find a livable middle road between one child who has food-based health concerns, and an older child who has none. S's imperative is "when will we eat next, and what will it be?" K's current imperative is living life as similar as possible to the way she sees her peers living it. My current imperative is somehow find the livable center amongst the two of them, while maintaining my sanity. Does this sometimes mean eating out, and as we do so making the healthieast choices we can for S? Yes. Much as the PWS purists out there might disapprove, this is what we have found, that works for us. Some families go completely vegan/vegetarian/glutein-free/low-carb/high protein, as soon as the PWS diagnosis enters their lives. Some families completely stop going out to eat at all. Some families swear off any and all foods that they consider "unhealthy". Whatever works for them is fine, and if their child/children are still well-cared for and healthy, and thriving, then they've made reasonable choices. In our case, B and I chose to keep our lifestyle as even-keeled, and realistic, as possible - especially because we have two children. After all, it is possible that we won't be the only ones caring for S her whole life; and we ourselves don't live in a bubble.
I guess the bottom line, in answering a question like this, is just as PWS manifests differently for every child diagnosed, so does that child's family adjust to and deal with it differently. What works for us and for S, might not work for another child/family. I know there are probably quite a few parents out there who might judge me quite harshly for how we deal with things. But, it is what it is, and we do the best we can - and for all of our potential mistakes in this area, S seems to be doing just fine.
J.
Subscribe to:
Posts (Atom)