Tuesday, December 29, 2009

Ayden Jane has been hilarious lately. The new language skills have stayed and the energy/coordination has returned. She talks constantly while she is playing and you can sort of even have conversations with her. Mostly, she loves to tease and can turn nearly anything into a game.

You can still see her have trouble when she gets tired. Especially with language. She will talk fairly clearly and in complete sentences when rested and then struggle to connect 2 words when tired. Also, when she is someplace where something is 'overwhelming' or just very new. She never gets scared, at least she never shows it on the outside. She does the opposite. She just 'shut's down'. She does not talk or really show any facial expression. She becomes very still.

I guess it is just one more way that Ayden Jane seems to have reactions that are not that out of the normal realm, just more dramatic and for a longer period. It may take most 2 yr. olds 5 minutes to warm up to a new place, but it can take Ayden Jane 20+.

I will say she has demonstrated an amazing memory for places and directions. Any time we even turn toward my parents neighborhood Ayden Jane starts with, "go to boppa house? Go swim Boppa pool?" We went to Mckenna's class at the elementary school. It has nearly 1000 students, so it is fairly large. After we went 2 times, Ayden Jane can take the right turns and goes directly to Mckenna's classroom. Finally, I told Ayden Jane to get her shoes on so we could go to McDonald's for breakfast the other day. (That means apples and slides for Ayden Jane) On the way there I turned to run the trash to the dump. As soon as I started to turn she started yelling, "no momma, go to McDonald's". I think she pays more attention to where I am going than the other kids!

Saturday, December 26, 2009

6 months - diagnosis

So, at our 6 month well baby check-up, Ayden Jane looked good. She was 50th percentile for length and 20th for weight and was smiling more and even making some noise. Our pediatrician said to go ahead and start solid foods and we continued to hope that whatever Ayden Jane had been struggling with was something of the past that she was somehow working through.

We gave Ayden Jane the standard American first foods starting with grains. She loved it and had no trouble eating it. It felt like the stress of eating was finally subsiding as she still was not thrilled with her bottle. Ayden Jane began to pack on some weight, but it was almost a relief and our others had all been chubby babies... It was gradual to us.

In early June 2008 Ayden Jane was 8 months. We had a follow up appointment at MUSC and I remember having a hard time rounding up the energy to go. It was always draining going to the follow ups and having them ask questions and pick apart Ayden Jane. It was all done to help her and solve the question of what was going on, but it was hard. She was 'filling out', starting to sit up on her own, head control was much better... Where I thought we were was sooooo different than where we really were.

As it turned out, Ayden Jane's growth curves had crossed and just when I thought things were beginning to look good, the geneticist saw things very differently. She was now 20th percentile for length and 50th for weight. She had not grown at all in 2 months. (In length that is. and I even made the geneticist measure her again!) We were sent to the lab for blood work and I once again had the words Prader-Willi Syndrome pounding in my head. How could it be? We had already dodged this one....

The test was positive for PWS UPD. Ayden Jane was diagnosed with the form of PWS that requires a more difficult test. As near as I can tell, the FISH test which they had done when AJ was much younger picks up the deletion form. It can tell that there is genetic material missing in that region. However, Ayden Jane has 2 copies of my genes on that gene region, which of course, still means no copies of Daddy. Because there is genetic material there the FISH test cannot pick up the PWS via UPD. The methylation test can look close enough to tell that genes in that area are duplicate and that the region is shut down by the body because of it. Either way, the result is PWS.

Friday, December 25, 2009

Christmas 2009

Merry Christmas. It was a great day, as all Christmas days are. There were lots of presents and Ayden Jane started to really get into it. The funniest part, however, was when she opened the play doh from her sister Mckenna and proceeded to plop down in the middle of the chaos to play with it. Every one climbed over her and she pushed boxes and wrapping paper out of the way to make a space. She still had several presents to open, but it was like she had been waiting her entire life for her own play doh so the world stopped for a moment.

The best Christmas present for us, though, was Ayden Jane is back to her old active self. Her new language skills are strong enough now that she is basically talking in complete sentences and active at the same time. She climbed right up on her new little tricycle and said, "watch, look I ride my bike." I was soo great to hear her and watch her and see it all come together with ease. I wonder if I will ever get to the point where I will not freak out every time we hit a bump in the road.

Wednesday, December 23, 2009

Down days

The past couple of days have been hard. There have just been a few reminders that Ayden Jane really does have PWS. I know that sounds odd because we have been dealing with it for a year and half now, but Ayden Jane does so great that I almost convince myself we have this thing licked.

I have loved listening to the vastly improved language skills, but the cost has been watching my lively little toddler become way more calm and uncoordinated. I know, logically, that this is just a side effect of the way she seems to develop in spurts, but it is still hard. I have even had to watch her extra closely because her body awareness has seriously slacked off. In fact, while my son was playing with her on the swing set, she took a pretty big fall. He was telling me it was weird when she fell. Like she put her hand back and had no idea where she was and that there was nothing there. She has played on that very same swing set with no problems for months!

Also, all the 'holiday' food reminds me of her food restrictions. Mckenna and I still bake cookies... but we wait for Ayden Jane to go to bed. Food this year has not really been a problem, but I see the challenges on the horizon. I am soooo not a food person, but I will need to learn to make PWS friendly treats. For me, that means treats that are grain free and not loaded with sugar. More to research, learn and create but I know it can be done. I think for now, I will just enjoy this year.

Monday, December 21, 2009

Language, language

Ayden Jane is on another spurt of development. This time it seems to be language. Yay!! As usual, however, this new spurt seems to have its bumps in the road as well.

Ayden Jane literally woke up this morning talking in full sentences. I know that sounds odd, but as she bounced in her crib I heard, "I want to cuddle Mama." Not just the usual, "cuddle mama." Then as she cuddled in bed she took a hold of my face and said, "I want go get snack mama." Okay, so it sounds more like, "I wan go get nak mama." (food the first thing on her mind was not surprising because she fell asleep without supper the night before) So far it just seems she is a bit chatty.

Out in the kitchen she heads for her chair. Only she is sort of narrating what she is doing. "I get in my chair." Then she says, "Mama cookin my eggy." The list went on. Maybe this does not seem strange to those of you with 26 month olds, but Ayden Jane usually speaks in 2 or 3 word 'sentences' and occasionally breaks through with a complete one now and again. She reserves her talking for needs and parroting. I have never heard her narrate before.

Later in the day we were at the playground and she was at it again. As she climbed the stairs she just kept talking. Here is where the bump in the road comes, however. It seems as she talks, there is not enough focus on the motor portion. She really had to hold onto the rail and moved very slowly. She even stumbled a bit and took FOREVER getting into position to come down the slide. Of course, as she was getting in position she kept telling herself what to do. "Sit down Ayden Jane. I go down the twisty slide." She also needed lots of help walking on the little 'wall' around the playground. It is black plastic edging of sorts which makes a great balance beam. She likes to walk on it and was even able to take a few steps without holding my hand a few months ago. Today, she was talking away, but was not able to pay attention to balancing herself and placing her feet where they should go...

It is like there is just too much going on for her brain to process the language and the motor all at the same time. We are off for 2 weeks from hippotherapy and physical therapy so I guess I am on my own to try to help her through for a bit. She has gotten pretty good at figuring it out herself though. She has even been asking for extra cuddles, to wear her back pack and sleeping a bit more than usual. Language is a great Christmas present! And maybe by New Year's we will get her activity back with the language intact. Couldn't ask for more.

Sunday, December 20, 2009

B-12 posts from Holistic List

Novemeber 2008 -- 13 months
We have decided to go with an oral B12 for right now. I am not opposed to the injections, but Ayden Jane is on some sort of developmental spurt of her own right now and I do not know how we would sort out what gains from what cause. For example: She is 14 months next week, but over the last 8 days has gone from 3-5 second independent stand with a very ungraceful landing to standing a min. plus and completely grading her return to a seat or the floor. She is even spontaneously doing so when playing at a small table... She is rapidly learning signs and has suddenly discovered generalizing them. She is saying a couple of words as well. After this plateaus (as we all know it will) we may look into B-12 shots.

I will say that I gave her the oral B12 over the last 3 days. Starting the first day her volume has gone through the roof. She has always been capable of being loud once in a while, but now she just yells for the fun of being loud. My husband works nights, but has never before been woken by Ayden Jane unless it was crying from a fall... He thought it was great the first couple of times she woke him just yelling for fun. Now he does not find it so endearing.

December 2008 -- 14 months
Sorry it has taken so long to update, but here goes. I waited out the week and a half not giving Ayden Jane the B12. It was a long wait for me because as the days went by she became quieter and less active. I wanted the objective input of our PT so despite my 13 year old son's objective input, "How come Ayden Jane was so loud and funny last week and now she's a veg head?" I waited. Long story short, my PT was on board and saw her Sat. so she could get a good 'feel' for Ayden Jane. I started AJ back on the B12 and during PT today I asked the therapist what was her objective opinion about the B12. Her answer, "never, never, never take it away again. In fact if you do I may have to report you to DSS." (yes, she has a good sense of humor) Here is the best part. As we were nearly done, Ayden Jane took her first independent step! I do not know what this means for others, but I am convinced that for Ayden Jane B12 is a must. Now, if I can just get her to stay off the hearth and out of the fireplace!

The B12 has just given her an extra boost. She now plays hard, sleeps hard and can do things quickly. I used to be able to sort of watch her think. Look at the ball, I want the ball, I could reach for the ball, gather my energy... She could and would do it, but now it is more like--Hey, ball, and she is after it. It is fun, but 3 times today a slipped into another room (laundry,cleaning, bathroom...) When I came back just a moment later, I couldn't find her right away. She can get down the hall or into another room in no time! I will have to adjust!

Feb. 2009 16 months

The past month has been very interesting. We upped her GH from .2 daily to .4 daily. She has been on the higher dose GH with at least 1000 mcg daily of B12 for a month now. (as well as the other supplements) She has almost seemed like, hmmmm, 'the noise is too intense' sometimes. It is hard to put into words. She is noticing so much, can do so much with her body and is craving all the input she can get it is sometimes over whelming for her. For example: she craved texture and motion, she tried to communicate to where she would just scroll through all her signs when she was excited --dog, all done, please, ball, play... and babble all the way. She started walking, but became almost worse at it as she could not stay focused forward long enough to sustain as many steps. Yes, occasional temper tantrums came along with it, but nothing outside the scope of a normal 16month old. I debated backing off with the B12, but decided to give it more time. Now I think I see her beginning to 'organize' it all, like she can control her new super powers better. Suddenly, today we can consistently use b's and m's and p's on demand along with d's. Over the past few days is walking with more confidence and less diving to hands and knees for speed. She is getting her point across without as much frustration. (expressive speech does seem to be our biggest delay. I do not know what we would do without signs.) It is hard to explain and, as always, I wonder if I am over analyzing. Our pediatrician says she looks great, our PT is surprised every week with how AJ 'feels' and says her only complaint is that it is hard to stay one step ahead of Ayden Jane.

August 30, 2009 23 months

We have found tremendous benefits with the b12, but we also have seen a cycle of things almost being too much for Ayden Jane to handle when we increased the dose. She works through this and on the other side new skills break through. The difficult times are shorter and less in intensity now, but still there. I am not sure that makes sense, so the best I can do is use an example.

Ayden Jane started the b12 around 12-13 months. (a bit of stop and start...) At 15 months she was walking 5 or so independent steps at a time. We increased the dose and she actually regressed and did not take but a couple of independent steps before stumbling, tripping or falling. What I began to see, however, was that she was so distracted noticing all the other things in the room, babbling... that she was not concentrating on the steps like she did previously. It was like the world was coming at her so fast and loud, that she could not process it all. She became a whirl wind of destruction as she played with toys for seconds a piece and had to touch everything. We worked on sensory integration and held tight. As she adjusted to the increase, the improved energy and other benefits stayed and she became able to use the new powers for good.

We went through a similar period around 21 months. She became wild woman once again. After chatting with our PT (she is AMAZING) we put some back up plans in place to help meet her sensory integration needs, but allowed Ayden Jane a bit of time to see if she could work it out on her own. Sure enough 2 weeks later she stopped the sensory seeking and discovered a funny sort of jumping, running(or at least a very cute wobbly imitation of running) and began finally replacing some of her signs with words. Her balance and ability to climb also greatly improved. It is not measurable, but she just became rock steady in her movement.

What does it mean? I have no clue other than I hope that b12 in pws is studied so that the guess work as to who it will help, how to best use it and how to get the benefits with the least disruption or struggle. I feel incredibly blessed that Ayden Jane has responded so well to the oral b12. I wonder if as she gets older and is in a different stage of pws if she will need to go with injections. For that matter I wonder if there are benefits to gain now, but we have decided to hold off for now. Thanks for all the updates. It is fascinating to see the variety of response and a stunning reminder of just how complicated this crazy pws is.

July 2009 21 months

Janet, I do not have answers for you, but was wondering if you could share 1) what brand b-12 you are using 2) how much of each did you start with 3) what time of day did you give it 4) did you mix it?

I will try to answer without too much wandering in my thought.
1. We use pure encapsulations for the methyl form and blue bonnet for the cyano form. Both are liquids and the blue bonnet also has folic acid in it.

2. I started at 200 mcg. last oct/nov.

3. We started mornings I think, then went to morning and night. Now I split it morning, midday and night. I give her approx. 750 of each morning and midday. Then 1000 methyl at night. The process of raising it has been a balancing act of pushing it up a bit then enjoying the great effects and dealing with the 'side effects'. For AJ the problems were maintaining her weight (keeping it on that is) especially when she was 13 to 19 months. Also, she would struggle a bit with what seemed like just more input coming in than one little body could handle. We saw this in several ways. Tornado activity. Pulling everything down/into everything. Balance and coordination (and climbing ability) improved, but trying to do everything too fast so falling a lot. Loving texture to an odd point. Ex. sit and rub dirt/sand all over. Clenching every muscle. Overly emotional. I loved the improved energy, balance and attempts to communicate so we kept the B12 and found ways to deal with/solve the system overload.

4. I do not mix, just give her a bit of each.

As for why I use a bit of each, I find the cyano gives her bursts of energy but can make her edgy. It could just be the folic acid in it that makes her edgy, but I have not really looked for a different liquid. The methyl form seems to improve more or less over all. With it we sleep well, language is much improved, focus is better... Logical thought tells you why we stick with straight methyl at night.

Friday, December 18, 2009

1 - 6 months

Our journey began to smooth a bit after we were home. It was still scary, but the business of life with 4 kids... We just had to keep going. Ayden Jane was weak, but holding her own weight wise. We kept up the schedule of feeding high calorie formula every 3 hours and stressed over every ounce, but it eventually got easier. We went to follow up appointments and even were tested for PWS early on, but everything came back negative. Ayden Jane slowly began to get stronger and we finally got to meet that adorable little personality bit by bit. These are some pictures of AJ around 4 months when she first started to 'wake up.' (with a little help from a friend)

We really felt like maybe, somehow, whatever was going on with Ayden Jane was something that was somehow healing. Don't get me wrong, she was definitely delayed and floppy. She was still difficult to hold and had little head control. She still did not really cry like other babies. She still did not 'ask' to eat. She still slept a LOT. Our emotions were on a constant roller coaster. On one hand she had come so far, but on the other we had no idea what we were up against. We worried that whatever caused her to slip away from us the first time would somehow happen again at any time. Little did we know what lay on the horizon.

0-1 month

Okay, so I will be honest. I have avoided recapping Ayden Jane's early days. It is funny how even though she is now 2, just to look at pictures or think about those days brings up such fresh emotions. I can be cruising along with all positive thoughts about AJ's future and 'wham' out of nowhere the wind is knocked out of me and I am back in time praying that our little one will 'wake up' and be okay.

Ayden Jane was born on a Mon. evening. I was induced at 39 weeks, not because there was anything wrong, just because I had a history of 9 pound plus babies... The day was long and Ayden Jane struggled several times. Once or twice it looked like a C-section was on the way and then with repositioning she would bounce back. Apparently our active little one had a very long cord which was now regularly pinching. When she was finally ready, the doctor was delivering another baby so we had to wait a min. Yep, just wait. When she arrived, gloved up and said okay Ayden Jane came flying out. I am told she was even airborne for a moment and was caught by her ankle as she tried to fly right past the doctor. What I remember most about it though was when they put her up on me for me to see. She was PURPLE and she did not cry very loud. I just wanted them to take her away and help her.

That night she was okay, but just not quite the same as my others. She thought about nursing, but just couldn't seem to make herself do it. The staff just said not to worry, she had a long day and would be okay. By the next day, concern was growing. She still was not interested in food and did not seem to be getting any stronger. She just had a weak look in her eyes that made me wonder... That afternoon the doctor decided to test for sepsis and place her on an IV. It made sense and so when I went to sleep that night I hoped by the next morning she would be on her way to recovery. While I slept, the nurses took great care of her and were on the phone with my husband. Apparently, they nearly life flighted her out that night, but decided she was stable enough to wait 'til morning and go by ambulance. I woke up during the wee hours of the morning to check on her and she was so weak, now hooked up to IV and oxygen. She was slipping away.

Wed. morning they discharged me, (although not excited about it) and we followed the ambulance to MUSC, about 90 min. away. My parents and wonderful neighbors and friends took care of the 3 big kids. Once there, the awesome staff at MUSC began to take her off the oxygen, started feeds through and ng tube and began to test for all they could think of. Ayden Jane, however, spent Thurs and Fri motionless and non responsive. I just watched her for hours, waiting to see if she was still in there. I could barely hold her as her oxygen stats would begin to drop if her neck shifted even a tiny bit. She just had zero muscle tone. Finally, late on Fri., there were glimmers of movement; a foot, an eye trying to open. I held her and could feel there was more to her. By Sat. she felt like a 'real' baby for periods of time during the day. Each day she became stronger and she started to make attempts to feed. My favorite time with her was her late feeding. Usually around 10:30. The whole place was just so much quieter and I could just hold her and rock her....

The following week she just gradually improved and began taking most of her feeds by mouth. My days were spent just hanging out waiting for time to change and feed her and waiting for the doctors rounds to hear any news. She was obviously a bit of a mystery as each day when they made rounds her 'crew' got larger. More specialists, more residents... No answers. At 12 days old she was taking her entire feed by mouth and we were discharged with follow up instructions, lots of well wishes and no answers.

Her first week home we went on our schedule of eating every three hours. Yep, day and night. Ayden Jane still did not really care to eat, she never cried, and was rarely active but she now lived in a very 'stimulating' environment. As hard as we all tried, AJ just wasn't quite strong enough to fly on her own yet. By the end of the week she had not lost weight, but had not gained any either. We ended back at the hospital as failure to thrive. Gary took this shift as I just needed a break and needed my big kids. There they switched her from breast milk to formula, worked with a cleft palate bottle, speech therapists... and after one more week she came home feeding on her own and strong enough to maintain herself. After one month, we were all under one roof and getting into a routine.

Wednesday, December 16, 2009

Very Two

One of the questions often asked about parenting a child with Prader-Willi Syndrome is whether the child's behavior is a result of PWS or ________. The blank is often filled with the number 2. Lately Ayden Jane has been very 2.

She is soooo independent. Do not even think about helping her without asking or giving her the opportunity to try by herself first. If you jump in too quickly you will be told in a very convincing tone, "go 'way", or "I do it." The latest has been getting into her high chair. She will push a chair over to her high chair, position it just right, climb up on the chair then into the high chair. If you touch her at any point in this process you will hear from the queen herself and she will insist on starting all over!

She is into EVERYTHING unless, of course, it is something she is allowed to get into. Left to herself she will empty drawers of clothes by trying all of them on. She loves to get into the kitchen drawer with the bibs and pot holders.... She proceeds to feed her animals and use the pot holders as blankets. Let's see then there is Mckenna's rock collection, shoes, toothbrushes, CD's, books... It is all so fascinating to her. I have let her get into more things than I ever let the others into because I it somehow seems good and 'normal'. It is definitely time to reign in those boundaries!

Then there are the funny connections the 2 year old brain makes. Today when we were playing outside Ayden Jane fell. Yes, as usual, she was climbing something she shouldn't have been... Anyway, she just hurt her hands a little when she landed. She came over for a kiss, but it obviously did not do the trick as she took off with the stride of a toddler on a mission. She went into the house and came back out grinning ear to ear with the oven mits on!

Finally, she is into sound effects. On the elevator last weekend it would beep between floors -- Ayden Jane beeped. Fire truck sirens, belly growls, animals of all kinds. Her favorite is to imitate the sound effects we make. Kayla got into the car after school and her papers slid all over. Of course, she was frustrated and so the uuuuuugggg of exasperation came out. Ayden Jane mimicked the grunt all the way home. At the end of the day it is amazing how many 'non word' noises we use to communicate. Ayden Jane is totally in tune to those. She may just have a career in impersonation.

Tuesday, December 15, 2009

Therapeutic Horseback Riding

Ayden Jane started riding at about 18 months. She rides through a program for special needs kids that is run by a wonderful lady who owns the barn and horses. She gives of her time and even does the leg work of grant writing... so that it is all free to the families. A huge benefit to families as horseback riding therapy is tough to get insurance companies to even consider!

Ayden Jane loves to ride Mindy. I have to be sure not to tell her too soon before it is time to go or she gets very impatient. Once it is time and we load up, I listen to Ayden Jane call, "MINDY! MINDY! MINDY!" Yes, she yells as if she expects Mindy to come up along side the car while we are on our way. It is about a 30 min. drive so I have learned to be sure she has distractions for the ride!

So what exactly does she do while riding? The horse is led around the ring and I walk along side, except on the rare occasions when there are enough volunteers for mom to take a therapy break. As we go around we play with balls and rings and other toys to get Ayden Jane to reach, throw (rotate) and really work that core. Jen (our PT) also gets her doing things like squatting, kneeling, half-kneeling... to work other things. Ayden Jane thinks she is so cool when she is doing tricks and she grins from ear to ear. Lately, she has been getting really frustrated with me for holding on to her while she rides. She wants to it all by herself! Tonight while she was riding Mindy shook. I mean the kind of shake that animals do where it starts at their head and works the whole way down to the tail. This in turn shook Ayden Jane. We watched to see her reaction. She grinned ear to ear and said, "Mindy shake" and then proceeded to do her best to imitate Mindy. After her interpretation, however, she was sure to lecture me about the fact that I held onto her leg too tight while the shaking was going on and attempted to push me away.

I love the independent streak. It will always keep things interesting and I am sure it will carry her far. There is just no telling this kid she can't do something or even that she needs help!

Monday, December 14, 2009

House Resolution 55

This Sept. Gary, Ayden Jane and I went to Washington and walked Capital Hill speaking with a few Senators and Representatives. It was all set up for us by FPWR, so we just went to the appointments and talked about PWS, Ayden Jane and the hope that is out there for research and for those diagnosed early. To us this was very exciting news!!!

December 10, 2009

Audra McGeorge (202) 340-8147

Royce Legislation Establishes National Prader-Willi Syndrome Awareness Month

WASHINGTON, D.C. - Today the House of Representatives passed H.Res.55, legislation offered by Rep. Ed Royce (R-CA) which establishes a National Prader-Willi Syndrome Awareness Month, and encourages continued federal research of this syndrome -- a recognized, common genetic cause of childhood obesity.

"With this legislation we can increase awareness of this genetic disorder among health care providers, pediatricians, parents, teachers, and communities. Additionally, we can begin to provide opportunities for fuller, more independent lives for those affected by this disease," said Royce.

Sunday, December 13, 2009


While this blog is mostly to write about raising our child with Prader-Willi Syndrome, it is incomplete without mentioning the great impact our other children have on her life as well as the great impact she has on theirs.

Let's start with the easy part. Kayla, Noah and Mckenna are Ayden Jane's greatest assets. They work with her, cheer her on, challenge her, are so proud of her, are great examples for her and keep her life busy with activity. They couldn't be better brother and sisters. Ayden Jane is in the parrot phase. She imitates them in every way she can and it is hilarious. She will do anything for their laughter, cheers and attention. They get her dancing, kicking balls, chase her all over the house, wrestle with her, read her books, draw with her and take her outside to swing... Ayden Jane has gone to more soccer games, volleyball games, basketball games, karate classes... Talk about having constant stimulation for a baby! I couldn't be prouder of how they love their little sister.

The harder part as a parent is the time and resources I have spent during the last couple years on Ayden Jane. Not just feeding and therapy and doctor's appointments, but reading and research until wee hours of the morning. I feel bad that Ayden Jane's needs have overshadowed their needs at times. I wish that the worry and stress of parenting Ayden Jane were invisible to them, but I know it was/is not. The financial strain has truly caused us to have to say no to the other kids on many occasions and I nearly cry when I think about how great they have been about it. I wish I could have spared them the fear and worry they went through as they had to process their baby sister having a scary problem they never heard of before. I am thankful for all the prayers they have said for Ayden Jane and for me during all of this.

In the end, I guess I just hope that Ayden Jane somehow enriches their lives as much as they so obviously enrich hers.

Saturday, December 12, 2009

Family travels

There was a time when Ayden Jane was tiny that traveling just seemed too complicated. There were the frequent feedings, the supplements, the lack of moving while riding, the worry about new germs, keeping gh cool... When Ayden Jane was tiny, riding long periods in her car seat just seemed to zone her out. She would often get quite warm and somehow inactivity bred inactivity.

I can officially say that at age 2 it has become easier. We traveled quite a bit over the last month. Not by plane or train, just by automobile, but stretches of 3-4hours were the norm. Today we are about 4 hours away. We came to my son's state cup soccer games and I just realized that it is just not a big deal anymore. I have found snacks (mostly nuts) that work well in the car and places were we can stop to eat that work for us. Packing up the supplements and the gh goes quickly and smoothly and it has become just a part of what we do.

As for Ayden Jane, she seems to LOVE to travel. It was very cold today on the soccer field and she just took off playing and having a blast like she had been on those fields all her life. She was climbing a fence, running away, kicking the soccer ball and cheering for her brother. She kept yelling, "hip, hip, hooray!" in the car for seemingly no apparent reason. Just the joy of having her whole family packed in our car with no choice but to be an audience.

At the end of the day, Gary and I just shook our heads and wished we had known how 'normal' she would be. I am glad, at least for now, things are running smoothly. I still worry that it won't last, but I have gotten better about remembering to enjoy these times and trust that when the bumps in the road come, so will new answers.

Thursday, December 10, 2009


Dr. Miller called today with the results of Ayden Jane's labwork. We were there last week for our first visit and, for me, our first check on all the supplements and a few other things. All the bloodwork looked great and she said she wouldn't change a thing. Hooray for AJ!

Ayden Jane has been developing quite the thrill of the tease lately. Last night she made me laugh at Kayla's (our oldest daughter) basketball game. Ayden Jane was playing around the corner with Mckenna (age 8) because she could NOT sit still on the bleachers and was tired of climbing to the top and back down. They had a couple of basketballs and were very occupied. Next thing I know, Ayden Jane comes flying around the corner and sprints away holding Mckenna's sandal. Of course the next flash was Mckenna, but it was half court before she caught her. Ayden Jane was quite proud of herself and was belly laughing as Mckenna carried her back to me. Luckily Mckenna seems to appreciate her sense of humor.

Wednesday, December 9, 2009

Sensory Integration

Sensory integration is a huge part of Ayden Jane. Not all kids with Prader Willi struggle in this area and I have to say I choose this struggle over some of the others. Hopefully that will make sense as I TRY to explain what it is or a least explain what it means for Ayden Jane.

It seems that as Ayden Jane gains skills her little sensory system has trouble integrating all the pieces. Okay, that sounds too medical. Let's start with this. When you and I walk across the room, all sorts of stuff goes on inside of us unnoticed. The feel of our clothes, the feel of the ground on our feet, the air around us, all the things on the path we are walking, balance adjustments, if we are approaching a wall... We automatically sort of ignore what is not necessary, 'turn up what is necessary' and just smoothly process it all. Not so much for kids like Ayden Jane. In her case she just seeks lots of sensory stuff. When she was little it was texture. She would rub things all over her feet, then legs, then belly, then face. As she has gotten older it shows up more in movement. She LOVES to bounce, wrestle, squeeze tight, run, climb, slide, swing... you get the idea. She also loves to carry/wear weighted things. Jen (PT) refers to it as deep input. To me it just seems like she has an itch on the inside she just has trouble scratching. There is a little storm going on in there and for whatever reason she NEEDS the extra deep touch to calm that storm.

An OT or PT who is sensory trained is invaluable for this. We have done many things to meet this need I know now I should have written about it as we went along. We have been about a year now where we go through fairly intense seeking periods right before we gain a new skill. Usually, it takes about 2 weeks. The good news is that the bouncing and running and jumping and.... are all great things for Ayden Jane to be doing. Especially with Prader Willi's slow metabolism lurking around the corner. It is more common that these kids lack the energy to do all the stuff Ayden Jane craves. Amazing Ayden Jane.


Tuesday, December 8, 2009


As a teacher by profession, I always knew early intervention such as exposing kids to lots of books, exploring, talking, touching stuff... all the things typical kids take to naturally was very important. I can say it has now taken on a whole new level of importance. I love our therapists and even though I am a fairly experienced mom with 3 older kids and a special education teacher by training, I depend on them for so much.

Let's start with physical therapy. Our PT is the BEST out there. She is amazing at what she does and she loves Ayden Jane. Honestly, we have become very good friends as we have kids in the same schools.... AJ started PT late compared to most, at about 5-6 months. When she started in PT she could do next to nothing. I remember the early days where we were just trying to get her to reach for a toy. Each week Jen (our PT) would come and work with AJ and we were amazed. It was if she knew where all these secret buttons were on AJ to make her do new tricks. She would give us homework which was great for Ayden Jane and also gave me a mission. It was wonderful to have something to do that actually showed some results. Jen helped to guide us through all the skills AJ needed gain and she was always so positive. We didn't worry about where we were compared to typical kids, just made sure we were moving forward as quickly as possible while laying constant foundations for the next skill.

Most kids also have occupational therapy. In our case, our PT kept an eye on the OT and worked on that as well. I told you Jen is amazing.

Speech therapy is started very young for most kids with Prader-Willi Syndrome. In the begining it is more about feeding skills and mouth stimulation than speech. Ayden Jane saw speech therapists in the children's hospital at MUSC which gave us exercises... and we came home feeding by bottle. We did not start private speech until Ayden Jane was 15 months. At that time her evaluation showed a significant delay in expressive language. She was on target for receptive language. Exciting to say that 10 months later, she has caught up to within normal limits for expressive language as well. Although, I must add that her articulation is quite poor.

Therapeutic horseback riding. Yep. Ayden Jane rides horses. She started at 18 months and rides once a week. It is great and I believe has really helped with her core strength. Besides, she LOVES it.

There are other options out there for therapy including accupunture, sensory integration and others. I will talk about sensory integration in another post, as it has been our biggest mystery.


Sunday, December 6, 2009

Diet: Frequent High Nutrient Foods

In the thread of still filling in the basics of how we care for and 'do life' with Ayden Jane FOOD in a huge issue. We have chosen not to count calories, but to limit the kinds of food Ayden Jane eats instead. I cannot say that we fully do the Paleo Diet, but maybe our own version which fits our family. The easiest explanation is to say she is grain free/sugar free. Yep, no goldfish, cheerios, bread, crackers, cookies, cupcakes,candy... I know it sounds impossible and we just take it a day at a time, but WOW does it seem to be working.

So what does Ayden Jane eat? Lots of yogurt, eggs, chicken, beef, nuts, vegetables (as many as we can get her to anyway) and fruit. She still eats a crazy mixture of yogurt, flax meal and egg whites with a tad of honey and cinnamon. I have been introduced to almond butter (AJ's favorite), avocado's, and other things I would never have thought to feed my others when they were toddlers.

One big thing we noticed about Ayden Jane is that she will suddenly just run out of energy. I believe it is a hypoglycemia of sorts. It is like she has a small tank which requires specialized fuel. When that fuel runs out she just stops firing. She gets physically tired and mentally slow.

We have chosen to focus on alternatives for Ayden Jane instead of juggling limits. For example, in the church nursery they hand out little cups of goldfish for snack. I send a small plastic bag with almonds in it and request that they give AJ the almonds in her cup. Hopefully as she gets older she will be able to speak up about the things she knows she shouldn't have and chooses the appropriate alternatives. Hey, I know it is a lot to expect, but I figure kids with alergies (like to peanuts) have to do it.

It is a work in progress, but that's what writing this all out is for. I hope that as time goes on I will come across lots of great food ideas.


Friday, December 4, 2009


This is a big topic for those with Prader Willi Syndrome. Ayden Jane seems to be a 'high responder' to the supplements. I don't think anyone knows why some of the kiddos respond to supplements and others don't, but Dr. Miller refered to Ayden Jane as a 'metabolic kid.' She said it could be tested but that would require taking AJ off of everything and then doing some blood work... Since AJ is doing so great that would just be CRAZY so the fact that she responds is proof enough.

I will try to go through our list and give my rational and timing...

Schiff Liquid multivitamin: I think this was our first supplement and it just made sense that if they are not great at eating and absorbing nutrients I needed a good over all vitamin. We started giving her the 10 mls/day divided morning and night at 9 mo. (remember we did not even get a diagnosis until 8+ months)

CoQ10: At about the same time we started this one. I started with 60 mg then bumped to 120. We noticed a good increase in awake/alertness and talking. We left her with a friend for a bit. Our friend had not yet heard her make any sound and was so excited to tell us when we got back that she had been awake and cooing most of the time. (of course I was sad I missed it!)

Fish Oil: This one I started about 9-10 months. We have always used the Nordic Naturals fish oil. I just trust the brand. We give her one capsule morning and one at night. Now I actually just use the Nordic Naturals Ultimate Omega + CoQ10 and cover both at one time.

Carnitine Fumarate: We started this about 9-10 months just after we got the fish oil rolling. We had to go up very slowly with this one as she struggled with a nasty redness/rash. She continued to become awake and gain skills so I couldn't swear that the carnitine was a part or therapy or other supplements or change in diet (we will get to diet soon). It just seemed that from what I read that the carnitine was a good idea and everything was continuing in the right direction. At this point (25 pounds) we use about 500mg/day but Dr. Miller suspects that is the one dose I am a bit low on.

B-12: Just after Ayden Jane turned 1 there was some talk about B-12 on the holistic pws list serve. I was comfortable with my doses of the others and, of course, wanted to give it a try. It was sort of new so I took the info to my pediatrician and asked if it would be safe. He agreed that B-12 is remarkably non toxic and did not see any way it could hurt her. He did have to add though, he did not see how it would help either. What does he know. Ayden Jane's response was REMARKABLE. Within 2 days she was so loud she was waking up her dad in the next room (he works nights). She also discovered climbing -- up the changing table, into the fire place... There is facinating reading on the Holistic list if you search the archives for B-12 or Ayden Jane. I started very low. 200mcg morning. Then I went to morning and night... Currently we use 750 mcg morning and noon and 1000mcg methylcobalamin at night as well as 750 mcg morning and 750 noon of cyanocobalamin. The 2 just seem to work differently with the cyano form being pure wild energy.

Creatine: At about 15 monts AJ was soooo skinny. The energy from the B-12 made gaining fat impossible, but she was not able to add muscle mass either. I hoped a bump in gh would solve the problem, but it was not enough. Creatine was added to help. It worked, just was tough to get enough fluid in her at the start. After a few weeks she seemed to just look healthier and was getting stronger. We currently give her 1 tsp/day divided into 3 doses.

That is a quick overview and I just do not really have energy to go back into more detail. I will try to do well going forward.


Wednesday, December 2, 2009

Appointment with Dr. Miller

We made the trip down to Gainesville to see Dr. Miller. Ayden Jane was great and did a fair amount of showing her stuff. The reason for the trip was not because we were having some sort of problem, just because we had yet to see any specialist who really knows Prader Willi Syndrome. I have been sort of treating her by way of all the things I have researched on my own and I am very aware of my lack of scientific training. After a while, you just need to know that what is going on inside is as great as the outside.

I have to say Dr. Miller is incredibly patient. We did not leave from our 11:30 appointment until 2:30! She had lots of opportunity just to observe Ayden Jane as well as to ask questions about her first 2 years.

So what did she observe? Ayden Jane ran up and down her hallways playing hide and seek. She is quite quick and I had trouble catching her a few times. Dr. Miller was playing with AJ and when she told her, "give me 5" AJ grinned at her, said "no" and pulled her hand back. As our conversation went on and AJ just could not entertain herself with toys anymore, she just used me as a jungle gym. She climbed up me to my shoulders to look out the window and asked to go upside down. Now, to those of you who are not familiar with kids with PWS, they are supposed to run out of energy not get a bad case of the wiggles when couped up too long.

So for me, a huge sigh of relief. It is like a weight lifted that someone who really knows has gone over my list of supplements and dosages and has given me a stamp of approval. I feel great that all she thought might be off was that I might be a tad low with her carnitine. She ran labs for lots of things including: IGF 1 levels, CoQ10, carnitine, vitamin D... I should hear in a few days.

As for details of what, how much, when I started... for all her supplements. I think I will get to that tomorrow.