Here is our Top Ten list of what I was told at Ayden Jane's diagnosis when she was 8 months old. These things were discussed as near absolutes for her future. I looked at my sweet, silent infant in her car seat and listened to her Doctor paint a bleak picture of what her future would become. A second doctor later advised me to accept she was disabled and stop trying to fix her. That diet nor supplements nor.... would change things. The first doc was kind, just uninformed about improvements that were possible but I can gladly say that he has followed Ayden Jane and has changed his PWS tune. The second doctor ... well, the last I saw him he threw her chart across the room and stormed out. He did not like that I questioned his authority. Sort of wish he was still there so I could let him meet Ayden Jane now.
As a side note, I have to add, we found doctor 3 at age two and she was very different. She straight up told me to remember most of Ayden Jane's genetics were intact and she was much more Gulley than PWS. She had no idea how true that was!!! And of course, there is Dr. Miller who shows us Ayden Jane is more than PWS with the way she talks to, plays with, laughs with and cares for Ayden Jane. Each of her patients is an individual first with their own unique make up and needs who happen to also have additional needs due to PWS.
As a side note, I have to add, we found doctor 3 at age two and she was very different. She straight up told me to remember most of Ayden Jane's genetics were intact and she was much more Gulley than PWS. She had no idea how true that was!!! And of course, there is Dr. Miller who shows us Ayden Jane is more than PWS with the way she talks to, plays with, laughs with and cares for Ayden Jane. Each of her patients is an individual first with their own unique make up and needs who happen to also have additional needs due to PWS.
1 - Behavioral Problems/Autistic Tendencies
Doctor - High risk for Autism and would at minimum have autistic like tendencies. Behavioral problems would occur because she would not be able to control her emotions and have sensory processing problems. These would likely make it impossible for her to be taught in regular education classes or participate with typical kids in activities.
Ayden Jane/current- Ayden Jane is in regular classes at school, is on regular rec soccer team, rec swim team, goes to summer camp, church groups... and very well behaved. We do see some of the "autistic like tendencies" here and there. She is very literal and not great at reading social cues. She does need things repeated and notices things others do not. She does get over emotional at times but because she feels deeply. She cares to the 10th degree. She is the best cheerleader, encourager, defender... anyone could want because once you are on her "team" she will have your back forever.
Doctor - High risk for Autism and would at minimum have autistic like tendencies. Behavioral problems would occur because she would not be able to control her emotions and have sensory processing problems. These would likely make it impossible for her to be taught in regular education classes or participate with typical kids in activities.
Ayden Jane/current- Ayden Jane is in regular classes at school, is on regular rec soccer team, rec swim team, goes to summer camp, church groups... and very well behaved. We do see some of the "autistic like tendencies" here and there. She is very literal and not great at reading social cues. She does need things repeated and notices things others do not. She does get over emotional at times but because she feels deeply. She cares to the 10th degree. She is the best cheerleader, encourager, defender... anyone could want because once you are on her "team" she will have your back forever.
2 - Appetite
Doctor - PWS will cause her to have hyperphagia. This means her brain will tell her she is starving constantly and she will do anything she can to get food. You will need to lock your cabinets and refrigerator and never, ever leave her unsupervised. She will steal food from garbage, stores, friends and neighbors. She will not be able to help it. In addition, she will only require 60 percent of the calories that other kids her age will need so you will need to feed her much less. The only dietary recommendations - cut her calories.
Ayden Jane/current - We chose a diet that was low in carbohydrates, moderate protein and high in good fats. This was against doctors recommendation at that time. She thrived. Once under the care of doctors that had a clue, diet was supported and tweaked for her individual needs. She currently is NOT HUNGRY. She leaves food on her plate when she is FULL. She understands why she eats the way she does and monitors herself. She is not bothered in the least by siblings or friends feasting on carbs she can not eat and is likely to tell them they would feel a lot better if they did not eat them either. I can leave her to make her own breakfast and go for my run. She is still learning, but honestly has better skills in the kitchen and makes better food choices than most any 11 year old kid.
Doctor - PWS will cause her to have hyperphagia. This means her brain will tell her she is starving constantly and she will do anything she can to get food. You will need to lock your cabinets and refrigerator and never, ever leave her unsupervised. She will steal food from garbage, stores, friends and neighbors. She will not be able to help it. In addition, she will only require 60 percent of the calories that other kids her age will need so you will need to feed her much less. The only dietary recommendations - cut her calories.
Ayden Jane/current - We chose a diet that was low in carbohydrates, moderate protein and high in good fats. This was against doctors recommendation at that time. She thrived. Once under the care of doctors that had a clue, diet was supported and tweaked for her individual needs. She currently is NOT HUNGRY. She leaves food on her plate when she is FULL. She understands why she eats the way she does and monitors herself. She is not bothered in the least by siblings or friends feasting on carbs she can not eat and is likely to tell them they would feel a lot better if they did not eat them either. I can leave her to make her own breakfast and go for my run. She is still learning, but honestly has better skills in the kitchen and makes better food choices than most any 11 year old kid.
3 - Lack of Energy, Balance, Coordination ...
Doctor - PWS will cause her to have poor balance and coordination. Her motor milestones will be delayed. She will not be able to learn to ride a bike or play sports. She will have low muscle tone and a lack of energy and will not be very active. She will likely be overweight or obese which will make all of these things even harder.
Ayden Jane/current - Ayden Jane reached her motor milestones at the late end of typical development. She learned to ride a bike while in Kindergarten and loves to ride all sorts of scooters, power wing, whatever. The faster and crazier the better. She has even learned to surf! Does she have low tone? Yes. Does she let it stop her? No. She climbs, bounces, rides, swings, swims, plays ... all with her entire being and loves every minute of it. I don't even pretend to watch at times because she also falls, crashes, and lives on the edge. The effects of PWS on her activities make doing all these things a bit harder and I do not anticipate her winning the MVP trophy, but she is the true meaning of sport and love of the game.
4 - Sleep Disturbances
Doctor - PWS will likely cause her to have sleep apnea and wake early. She may also wake and look for food during the night so locks are important.
Ayden Jane/current - Ayden Jane does not have sleep apnea. We have not done anything to make that the case, she has simply not been given that bonus feature. She did begin to wake very early and often the months to year prior to pitolisant. Woke repeatedly starting around 4-4:30 AM. The rule was she had to stay in bed until 6:00. She also was unable to stay awake past 6:30 without a significant after school nap. Interestingly, the doctor did not mention daytime sleepiness. He spoke of a lack of energy ... which maybe a different way of looking at what I see as daytime sleepiness. We addressed the daytime sleepiness with Pitolisant which is for narcolepsy and aims to regulate sleep wake cycle. It was the correct choice for Ayden Jane and she now sleeps well at night, going to bed about 9 and sleeping through until 7. With the quality night time sleep she goes hard all day everyday and can think more clearly and learn much better.
Doctor - PWS will cause her to have poor balance and coordination. Her motor milestones will be delayed. She will not be able to learn to ride a bike or play sports. She will have low muscle tone and a lack of energy and will not be very active. She will likely be overweight or obese which will make all of these things even harder.
Ayden Jane/current - Ayden Jane reached her motor milestones at the late end of typical development. She learned to ride a bike while in Kindergarten and loves to ride all sorts of scooters, power wing, whatever. The faster and crazier the better. She has even learned to surf! Does she have low tone? Yes. Does she let it stop her? No. She climbs, bounces, rides, swings, swims, plays ... all with her entire being and loves every minute of it. I don't even pretend to watch at times because she also falls, crashes, and lives on the edge. The effects of PWS on her activities make doing all these things a bit harder and I do not anticipate her winning the MVP trophy, but she is the true meaning of sport and love of the game.
4 - Sleep Disturbances
Doctor - PWS will likely cause her to have sleep apnea and wake early. She may also wake and look for food during the night so locks are important.
Ayden Jane/current - Ayden Jane does not have sleep apnea. We have not done anything to make that the case, she has simply not been given that bonus feature. She did begin to wake very early and often the months to year prior to pitolisant. Woke repeatedly starting around 4-4:30 AM. The rule was she had to stay in bed until 6:00. She also was unable to stay awake past 6:30 without a significant after school nap. Interestingly, the doctor did not mention daytime sleepiness. He spoke of a lack of energy ... which maybe a different way of looking at what I see as daytime sleepiness. We addressed the daytime sleepiness with Pitolisant which is for narcolepsy and aims to regulate sleep wake cycle. It was the correct choice for Ayden Jane and she now sleeps well at night, going to bed about 9 and sleeping through until 7. With the quality night time sleep she goes hard all day everyday and can think more clearly and learn much better.
5 - Cognitive Delay
Doctor - PWS causes cognitive deficiencies. The average IQ is 65 so you can expect a her to be below average and require specialized instruction in school with an emphasis on life skills.
Ayden Jane/current - First of all, that is just plain old news. Average IQ is now closer 95 if given gh early in life. (typically in the first year). Ayden Jane has an IQ in the average range and scores academically in the 70th-80th percentile on standardized tests of typical kids. So, in a room of 10 typical kids her age, Ayden Jane ranks in the top 1/3.
Doctor - PWS causes cognitive deficiencies. The average IQ is 65 so you can expect a her to be below average and require specialized instruction in school with an emphasis on life skills.
Ayden Jane/current - First of all, that is just plain old news. Average IQ is now closer 95 if given gh early in life. (typically in the first year). Ayden Jane has an IQ in the average range and scores academically in the 70th-80th percentile on standardized tests of typical kids. So, in a room of 10 typical kids her age, Ayden Jane ranks in the top 1/3.
6- Learning Problems/Disabilities
Doctor - Even if your child does manage to have an IQ close to the average range she will likely have learning disabilities which will further require special instruction in school and make it difficult for her to learn.
Ayden Jane/current - Yep. She has a couple learning challenges. Namely, she processes information a bit slow. This means there are times she misses instructions or information. She does not miss the instructions because she was not listening, but because the words were coming faster than she can process. There is a difference! Additionally, she takes longer to memorize facts and works slowly. Like a tortoise some days. So what to do? We choose to provide accommodations in the regular classroom. She has friends who repeat instructions sometimes. We love a checklist. She works harder to memorize and is provided with extra time to complete assignments. She loves to learn. She is smart and proud of her grades and the effort she pours into them. She will gladly put in the extra effort and amazingly never complains.
Doctor - Even if your child does manage to have an IQ close to the average range she will likely have learning disabilities which will further require special instruction in school and make it difficult for her to learn.
Ayden Jane/current - Yep. She has a couple learning challenges. Namely, she processes information a bit slow. This means there are times she misses instructions or information. She does not miss the instructions because she was not listening, but because the words were coming faster than she can process. There is a difference! Additionally, she takes longer to memorize facts and works slowly. Like a tortoise some days. So what to do? We choose to provide accommodations in the regular classroom. She has friends who repeat instructions sometimes. We love a checklist. She works harder to memorize and is provided with extra time to complete assignments. She loves to learn. She is smart and proud of her grades and the effort she pours into them. She will gladly put in the extra effort and amazingly never complains.
7 - Temperature Intolerance
Doctor - Honestly, he did not mention this one on diagnosis day. I have heard about it since and typically kids with PWS do not maintain body temperature well. They can get too cold or overheat and become lethargic.
Ayden Jane/current - Ayden Jane used to NEVER wear a coat and claimed to be warm even when blue. She would also overheat super easily. Pitolisant has improved this one a fair amount, although I wouldn't give her the med just for this. I consider it a positive side effect. Ayden Jane still has issues with this but it seems to be isolated to indoors when buildings are over heated and "stuffy". I don't claim to understand it... just saying what it's like. This was oddly one of our biggest challenges when the weather started to turn cold. Her body just gets all sorts of confused when it's cold outside but overheated inside.
Doctor - Honestly, he did not mention this one on diagnosis day. I have heard about it since and typically kids with PWS do not maintain body temperature well. They can get too cold or overheat and become lethargic.
Ayden Jane/current - Ayden Jane used to NEVER wear a coat and claimed to be warm even when blue. She would also overheat super easily. Pitolisant has improved this one a fair amount, although I wouldn't give her the med just for this. I consider it a positive side effect. Ayden Jane still has issues with this but it seems to be isolated to indoors when buildings are over heated and "stuffy". I don't claim to understand it... just saying what it's like. This was oddly one of our biggest challenges when the weather started to turn cold. Her body just gets all sorts of confused when it's cold outside but overheated inside.
8 - Skin Picking
Doctor - Listed among the difficulties of managing PWS is skin picking. People with PWS will pick at their skin until they bleed and beyond. These sores will commonly become infected and it can be frustrating problem. There is not a lot you can do but cover the sores and try to distract them.
Ayden Jane/current - Ayden Jane does not skin pick. Never has thankfully. Living here where mosquitoes could be the state bird I was concerned each bite would turn into a rough road. It is just not the case for AJ. I am sure it is a frustrating problem but I have heard some great results from the use of PharmaNAC. (we love the stuff and use it for other reasons)
Doctor - Listed among the difficulties of managing PWS is skin picking. People with PWS will pick at their skin until they bleed and beyond. These sores will commonly become infected and it can be frustrating problem. There is not a lot you can do but cover the sores and try to distract them.
Ayden Jane/current - Ayden Jane does not skin pick. Never has thankfully. Living here where mosquitoes could be the state bird I was concerned each bite would turn into a rough road. It is just not the case for AJ. I am sure it is a frustrating problem but I have heard some great results from the use of PharmaNAC. (we love the stuff and use it for other reasons)
9 - Aggressive Behaviors
Doctor - People with PWS often develop aggressive behaviors as they age. You may need to look into group homes for the safety of you daughter and your family.
Ayden Jane/current - Ayden Jane does have big emotions and this can include anger. She can be crazy excited, heart-broken sad, incredibly joy-filled, fighting mad ... None of her emotions or responses are odd other than they are magnified over what you would expect in some situations and less than you would expect in others. So yes, the intensity can be a bit off, but parenting, patience, consistency, discipline, and high expectations are all necessary. Add in the strong-willed nature, at least in Ayden Jane's case, and the need to start young teaching them they are able to stay in control and skills to manage big emotions is important. All kids get big eventually and PWS kids are no exception. If you want them to stay in control and not become physically aggressive when they are big, the time to teach them is when they are little. In the end, I love the big emotion. It's a way she is a bit different, but the joy and excitement this kid can get over something tiny is BIG.
Doctor - People with PWS often develop aggressive behaviors as they age. You may need to look into group homes for the safety of you daughter and your family.
Ayden Jane/current - Ayden Jane does have big emotions and this can include anger. She can be crazy excited, heart-broken sad, incredibly joy-filled, fighting mad ... None of her emotions or responses are odd other than they are magnified over what you would expect in some situations and less than you would expect in others. So yes, the intensity can be a bit off, but parenting, patience, consistency, discipline, and high expectations are all necessary. Add in the strong-willed nature, at least in Ayden Jane's case, and the need to start young teaching them they are able to stay in control and skills to manage big emotions is important. All kids get big eventually and PWS kids are no exception. If you want them to stay in control and not become physically aggressive when they are big, the time to teach them is when they are little. In the end, I love the big emotion. It's a way she is a bit different, but the joy and excitement this kid can get over something tiny is BIG.
10 - Scoliosis/Orthopedic Issues
Doctor - scoliosis is common
For Ayden Jane a 24 degree curve seemed to pop out of no where when she was approaching 5 years old. We were given a few months to see what we could do with PT etc and the appointment was made to consider serial casting. Lots of PT and swimming and hippo-therapy and running and.... her curve gradually reduced until it was just minimally monitored.
Fast forward to this March. Poof. Curve jumped up again and we started night bracing and we are ramping up the running etc. It is extremely uncommon for a curve to be reduced at this age and the goal is simply to keep it from increasing and avoid surgery. Of course, Ayden Jane says don't worry she will have it back under 20 by the time we head back for our next check in September. That's how she rolls!!
Absolutely not an exhaustive list. There are other things to watch for like diminished pain, stabismus, speech issues/delays, fine motor problems.... I could keep going but sheesh! In the end, kids with PWS are kids. They are a member of a family. They have awesome personalities and strengths and weaknesses that have NOTHING to do with PWS. As parents, we value those that look at our kids and love them for the amazing little ones they are. The teachers, the therapists, the doctors, the friends that see our kids as quirky, cool, little kids and love them unconditionally.
Doctor - scoliosis is common
For Ayden Jane a 24 degree curve seemed to pop out of no where when she was approaching 5 years old. We were given a few months to see what we could do with PT etc and the appointment was made to consider serial casting. Lots of PT and swimming and hippo-therapy and running and.... her curve gradually reduced until it was just minimally monitored.
Fast forward to this March. Poof. Curve jumped up again and we started night bracing and we are ramping up the running etc. It is extremely uncommon for a curve to be reduced at this age and the goal is simply to keep it from increasing and avoid surgery. Of course, Ayden Jane says don't worry she will have it back under 20 by the time we head back for our next check in September. That's how she rolls!!
Absolutely not an exhaustive list. There are other things to watch for like diminished pain, stabismus, speech issues/delays, fine motor problems.... I could keep going but sheesh! In the end, kids with PWS are kids. They are a member of a family. They have awesome personalities and strengths and weaknesses that have NOTHING to do with PWS. As parents, we value those that look at our kids and love them for the amazing little ones they are. The teachers, the therapists, the doctors, the friends that see our kids as quirky, cool, little kids and love them unconditionally.
