Monday, May 13, 2019

Top Ten

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. 

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. 

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. 

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. 

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. 

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. 

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. 

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)

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. 

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. 

Wednesday, May 8, 2019

Top Ten Part 2- Food, Hunger and Satiety

My sweet, beautiful little baby sat quietly in her car seat as the doctor described the HUNGER that would surely come with Prader-Willi Syndrome. His advice was to restrict her calories and lock up the food in our house. Not to allow others to eat around her and be prepared for her to think she was starving but not allow her additional food. Yeah.... that sounded horrific to me as well.

The combination of hunger and slow metabolism was described as the main characteristic of PWS. Where are we now? Ayden Jane not only accepts that she has to eat differently, she can make the choices on her own. She can order her own meals at restaurants and fix her own meals at home as needed. There are no locks on our fridge or pantry and Ayden Jane is left unsupervised regularly. These are things that were unheard of by her original doctor.

The most amazing piece with Ayden Jane, however, is that she can 'read' her hunger and full signals. I do not think they are they same as a typical person, nor are the quite as reliable, but she has learned to use them to help guide her. She will stop eating and tell us she is full. This I NEVER get tired of. We can trust her when she says she is hungry, or still hungry and requests a bit more at meal time. It is not frequent and she always talks through it. Mom, I'm still a little hungry. Should I wait a few minutes and then decide if I need more food? Or, I am still hungry, would more vegetables be the best choice? I think I had plenty of meat....

Most kids with PWS will also talk, think, dream about food. I mean, hard to focus on school or anything else food on the brain. Also, they worry about food. What food will be there, what will I be able to have, how much will I be allowed.... Since Ayden Jane is not constantly hungry she does not have food always on her brain.

I can't say how Ayden Jane has reached this point but I can say she has eaten low carb, moderate protein and high fat since the start. We have also talked about food and how her body uses food extensively. She understands the science behind how she eats and how PWS effects her nutritional needs. I am also very aware that different kids with PWS just vary in this symptom like all the others. 

Friday, May 3, 2019

PWS Awareness Month Top Ten - Part 1

May is Prader-Willi Awareness month. I struggle a lot with this. On one hand, PWS is a crazy exhausting, syndrome to manage which seems more like wrestling a constant moving target with no way to know what "joy" is coming our way next; and on the other hand, Ayden Jane is pulling of quirky typical kid to most people.  I get frustrated at the chronic nature of the genetic syndrome and wish Ayden Jane could spend her days with her biggest worry being if the waves are good.

When Ayden Jane was diagnosed 10 years ago we were given the sage advice of the day. Otherwise known as the list of all the things Ayden Jane would never be able to do and the ways she would struggle/suffer.

I think this year for PWS Awareness Month I will make a sort of top 10 list of things that were predicted and nearly guaranteed and where we are with them now.

Number 1 - Scoliosis

I don't say number one as in this is the number one challenge, I am just putting it out there first because the wonderful horse barn that has loved on Ayden Jane since she was an 18 pound 18 month old riding a sweet little horse all the way until now!

Scoliosis is very common in PWS. Absolutely not a guarantee, but definitely something that has to be monitored and addressed as needed. 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!!

Monday, March 25, 2019


A few days ago we headed to Shriner's for a back check. We have been doing this for years and up until this trip Ayden Jane has mostly received good news. Her streak of strong and straight came to an end.

She did her thing with standing in the cool x-ray machine they have. It scans from the top down and the image comes up on the screen where I can see it. My heart dropped. What was once a slight curve was now a very obvious curve. I did my best not to panic Ayden Jane, saying it looked bigger but we will see what the Dr. says.

Doc came in and as I looked at the x-ray and heard the numbers. In the past 4 months her curve has gone from 11 to 26 degrees. The doctor continued to outline options and future. Night bracing. Daytime bracing. Surgery... I was trying to focus. All the while Ayden Jane was whispering in my ear. We will work hard. We can fix it. We did it before.... I put my hand on her leg and quietly told her we need to listen to the doctor right now. "Okay mom, but have FAITH. We will have everyone pray and Jesus will tell us what to do. He always does. He is faithful to take care of us. I'll just surprise the doctors again."

Now I'm not going to pretend that as she was picking out patterns and being measured for the brace that the reality of what's coming didn't bring forth a few tears. It was a roller coaster of a couple days, wavering from very worried she will be able to sleep in the brace to determined to straighten her spine so fast she won't even need it.

In the end, she is ready to fight. New running shoes were purchased and day one of running already accomplished. Contact was made to the amazing Mrs. Jen, her PT of old that helped her conquer a 23 degree curve at age 4/5. Lots of people praying that we will know just what to do and that Ayden Jane will have the strength and determination to do it. We return to pick up the night brace in 4 weeks.

In the end this song is what she is running to and the life she lives.


Saturday, March 2, 2019

Schedules and Flexibility

Ayden Jane is having a fantastic year. I may say that at the beginning of every post because I will never get tired of typing that! I got such a kick out of her the other night as processed through a change coming up.

Her schedule so far this year was to have exploratory from 8-9 and then settle in to LA until recess time, somewhere around 11:30, give or take a few minutes depending on the day. So it is along academic block, but Ayden Jane has done fine with that. Recess and lunch puts them back into the classroom and hard at work from 12:30 - 2:30 for dismissal.

The change is simply to flip math and LA so that she will have math in the morning and LA after lunch. (and yes, social studies and science are in there as well, I'm just not exactly sure when) When Ayden Jane heard of the change her initial reaction was to get a bit upset. "But I'm doing so good! Why do they have to change things?" Ha, valid.

In the end, she asked me to be sure to include some math foods at breakfast (no clue what a math food is) and keep in mind she has LA after lunch so pack accordingly.  Sure kid. I'm on it. Hopefully she will have a great day Monday and will be 100 percent on board by days end. 

Saturday, February 16, 2019

Growing Up

Yep, I'm back. The full time work is done for now and I am hoping to get a bit of writing back on track.

Ayden Jane is really growing up. I'm not talking about how tall she is getting, even though that is happening too. I'm talking about her conversation. About dealing with social things at school. About caring for others. Okay, parts of her are growing up. There is plenty of her that still loves princesses, and fairies, and playing with toys, and imagination. I am thrilled those parts are content to stay young a little longer.

Growing up is challenging for any kid. Most kids have fears that other kids will laugh at them. Most kids worry that they will get picked on. Some kids worry about tests and grades. A few kids glide through pretty much unscathed but I think if we are honest, that is very few.

Now, how about heading into the wild world of growing up when you are a bit, "quirky, different, unique, weird, interesting, complicated, ...." just pick a word. These are the words that make fascinating and successful adults, but targets in school.

Over the years Ayden Jane has had her share of being made fun of. If that makes you gasp, breathe and think about it. SOME kids are just not nice. Some kids do not understand that all people are valuable. Some kids do not like others who are not the same as they are. She's had a bit of a resurgence of being on the receiving end of unkind words. We had a long chat about the stuff that is said and goes on in school. In the end though, here is what she had to say about it all:

1 - don't worry Mom. I know what he/they say is not true. God made me awesome.

2 - he/they are just mean. I think maybe they had a rough life but I'm not letting them take that out on me any more.

3 - if he/they were ever really, really, mean, C would punch them in the face. (I did NOT encourage this one. don't worry)

So there ya go. Confident, compassionate, protected. I'll take it. I mean, to hear negative things about yourself from your peers at age 11 and truly know and believe that those things are not true? To not lash out but to have at least some compassion for them?

Working on knowing when to ignore and when to speak out. - things like don't touch my desk or stay away from me. Although not nice, those you can just ignore. Calling you names, using bad language, threatening you, telling others to say bad things about you. - speak out.

Basically, Ayden Jane is a great kid. She is smart and perceptive and just when you think she is clueless, you find out she wiser than you could imagine. Some day she will be able to express all the cool stuff that rolls around in there. In the mean time, I enjoy the glimpses. 

Tuesday, January 1, 2019

It's Been a While

I am surprised how long it's been since I have posted. Well, sort of. In November I went back to work for a few months. Then December just full on flew out of control!

So to recap highlights, Ayden Jane managed straight A's for the first time. She was so proud of her all A's. She worked hard for it and totally earned it! As a reminder, she is in all regular mainstream classes and did not receive one bit of special education support the first quarter (more on that later)

Thanksgiving came and we had a nice family meal with all the girls. Ayden Jane does really well at these sorts of times and honestly, I just didn't worry too much about portions being a bit bigger. She was excited to bring over some keto candies that we made as a special desert and she was happy.

On to Decemeber. It was so very, very, very, beyond busy. With the rain and flooding of the fall, most activities were pushed into December and all the typical December excitement and Christmas things were mushed together with them. It was overwhelming for me and Ayden Jane loves to do EVERYTHING so we just over did it. On top of that we passed a nasty, long lasting cold around much of the family. So, much of December is a blur.

I think we FINALLY are putting together the last pieces of handling illness in Ayden Jane. She caught the nasty, snotty, cruddy, endless cold. She handled it pretty well the first few days and then, she didn't. It was like she hit a wall and in a matter of hours she went from okay to looking like a truck ran over her. Her skin color was bluish on her arms and the whitest white on her legs. She felt cold to the touch. Her energy disappeared and a headache came on strong. At that point, we went to the doc and he gave us a script for hydocortisone at Dr. Miller's recommendation. It was definitely the way to go! She turned around pretty fast and was back to fighting the cold well. After another week of fighting the cold we hit up the antibiotics since Ayden Jane has such a horrid ability to fight infection. In the end, Ayden Jane managed to kick the cold with no major complications. Woohoo.

It did, however trigger the strangest tics. She often fidgets her fingers quickly and sometimes makes a few odd facial movements when eating, but nothing life altering. Kayla nicknamed it chipmunking and with a reminder she stops Then this crazy uncontrollable ticiing came on. She could not stop it even when we pointed it out. It became nearly constant. After some thought, consulting smart folks, lots of reading, I decided to try treating it sort of like PANDAS even though I believe it was triggered by a virus rather than infection. Non of this is actually a PWS thing, it's a sucky immune system thing. Anyway, treatment is basically naproxen for inflammation and PharmaNAC because there is some evidence that it increases the effect of the naproxen. (and it can't hurt)

Sure enough,, after one dose of both Ayden Jane was more calm/movements more quiet. She told me after about 30 minutes when I went to check on her that she thought it was really helping because she could make it stop when she noticed she was doing it. That was yesterday and this morning it was still a bit better. I dosed her again and I really think it's working. So hoping she will be back to herself in time for school in 2 days.

She's one tough kid. One thing after another....