Wednesday, March 30, 2011

I know, I know. Sometimes I look too closely at Ayden Jane. It is great in that I tend to have a great sense of things being just a little off before they are ever really issues. It is not so great sometimes in that it is hard to relax and enjoy.

So, what do I 'see' right now when I look at her? I see what looks to me like a need to bump her gh. It is so hard to describe, but there is just something in her build that changes slightly. She is also back to napping every day and the naps are actually getting longer again. Not that I mind having her nap, just that it feels like a step backwards. If I put her on the scale I am pretty sure she has gained weight, her hips are fighting with us again and her should girdle is starting to look wimpy. These are all the things I 'saw' last time we needed to bump up the gh dose.

Luckily, I am scheduled to go to FL for the PWS sibling study next week. (Yikes, next week!) I am pretty sure there will be an IGF 1 test in there with everything else. I have been filling out the paperwork that needs to be done before I go but was surprised on Mon. when I got a call from the clinic. Apparently, the tests done on AJ were not definitive as to her form of PWS. Unless that piece of information is available we were ineligible for the study! I think we have it worked out as Dr. Pai, our local geneticist spoke with them on the phone and is willing to order whatever tests need to be done...

So why do we not really know what form of PWS Ayden Jane has? Are we even certain she has PWS if we do not know the form? Yes, AJ has PWS. Her testing went as follows. First we had a FISH test done. This test shows that there are 2 chromosomes in the PWS gene region which means that she does not have the deletion form. The next test done was the methylation test which came back positive for PWS. Near as I can tell, what this means is that they can see that the gene region is shut down. It very likely that this combination means she has PWS/UPD. It is possible, however, that AJ has PWS via the much more rare imprinting defect. So why did we not follow up and determine this fact? Was our geneticist slack? No, Dr. Pai was not being slack. The treatment for both are identical and we are NOT having any more children so it just didn't really matter. (imprinting defect could indicate a higher risk of additional children having PWS)

So, Dr. Driscol wants a microarray done for Ayden Jane. I do not need the information for how to treat her or for genetic counseling, but I am very interested to see if there is anything in it that can explain why she seems to be more mildly affected than many others I have met. Not to say that she will not have her own areas to struggle in later or that she won't fall back behind at some point. (No matter how great a day she has I worry the next will be the beginning of the end) I guess any clue, nugget of info.... that points toward something I can call answers....

Yep, that is the part that I have to fight off. That great and terrible part of PWS, the unknown. It allows me to dream big for her, but constantly reminds me of the mountains she/we will have to overcome. There is only so much that is/will be in her control. It is scary to dream big. When she was born there was fear of what her life would be like. No answers to why she struggled so. Then she began to get stronger and we were excited thinking that she would just outgrow this and have an incredible story to tell one day, until she was diagnosed at 8 months with PWS. That began a whole other sort of grieving process. There is no outgrowing a genetic disorder! So, although I rejoice with Ayden Jane in a way I guess only those who walk the road of special needs parent can understand, there is still an ever present guarding of the heart.

Tuesday, March 29, 2011

Character Fears

So this is not at all new, not really PWS related or valuable information. It is however cute. Ayden Jane has been quite uncomfortable with the large characters at different places. It started as full blown scared of them, but she is trying hard to overcome this fear. First up is the Chik fil a cow. The first time she saw one, she about climbed up me in fear and would not let me go anywhere near him. She kept repeating, "the cow not get me. I don't like the big cow, he not get me."

Recently the cow was welcoming the kids out of the car at school! I am still not sure what he was doing there, but I saw him as we were pulling into the short line. I told AJ and the look on her face was priceless. Shear panic. She started saying, "I don't like the big cow. The big cow not going to get me mom?" She saw a friend give the cow a hug just before it was her turn to get out of the car. Let's just say she did not hop out quickly, but she managed to cling to the teacher and get out. Then she asked, "can I give the cow a hug too?" Her teacher said sure. Ayden Jane took one step toward the cow then reached back and grabbed the teacher. "you come with me." She did, and AJ got a good arms length away and changed her mind. Hey, she didn't run screaming! Just backed away, never taking her eye off the cow or turning her back on it.

Let's just say we are in no rush to head to Disney!

Sunday, March 27, 2011

Car Seat Better and Conversation

Well, we had a soccer weekend with Mckenna. This means Ayden Jane spent some extended car seat time getting to the fields... The past couple of trips we have taken have really caused some horrible posture in the days following the trip but I have a new weapon. A car seat that fits AJ much better. So far so good! The trip was not quite as far as the recent ones but I am still happy to say that AJ's belly is not hanging too far. I can see a bit of a difference, but more in line with - wow, that was a long day sort of stuff. Sure hoping she does great on the long trip to Gainesville in a couple of weeks.

Ayden Jane has begun to get much better at conversation. As a result, I have started to weed out her go to phrases and replace them with things slightly more socially acceptable. Here is an example of what I mean. Nice older person in line sees AJ and says: Hello there pretty girl. AJ responds: What your name? Nice lady: Mary, what's yours? AJ: How old are you? Nice lady: Well, I am old enough. What did you say is your name? AJ: What color your eyes. You get the picture. Ayden Jane is just processing this nice lady and not listening to what she is saying or truly conversing with her in any way. Now, when a conversation like this occurs, I jump in and tell Ayden Jane she has to answer the question she is asked before she can ask another one. Also, we have talked about the question 'how old are you?' and she is now replacing it with 'how are you?' I have been amazed at how quickly she has made the transition. I think she was just ready, but didn't know how else to have a 'conversation'. She is proving to learn quickly once again. She is really getting the hang of 'small talk'. It is pretty hilarious.

Friday, March 25, 2011

She Swings Herself!

Well, it is a big day for every parent. You know, the day where you no longer have to stand there and keep pushing. The day where you can sit on the bench and possibly carry on a conversation while your child swings. Freedom for us all!!!

Now on to pedaling and there will be no stopping the fun this summer.

Thursday, March 24, 2011

What's New in PT

Yesterday we had our usual Wednesday physical therapy. It is typical to me, but I have had lots of people ask me just what we do with AJ in PT. Some days we concentrate on gross motor skills which is more classic PT and some days Jen focuses more on fine motor skills which is more OT (occupational therapy). Lots of kids with PWS see have both therapies weekly but we have gotten away with having Jen work them both.

The theme of PT right now is core and shoulder girdle strength seconded by balance and coordination to throw, catch, stop and kick balls. We played outside for most of it. Ayden Jane learned to pump on the swing to keep herself going. Jen also had her standing in the swing and using her arms and weight to swing standing upright. Jen had AJ on her belly on the swing and AJ had to come swing up and grab a ball (Jen made her reach way up with her hands to do it as she was swinging through) and then throw it back on her next swing back. It was really hard work for AJ. We have a set of rings on the swing set and she was using them as well. Ayden Jane got hot and tired so we headed inside to finish up.

Once inside it was ball skills. Ayden Jane is good at catching the ball tossed to her. She did well with catching the ball after one bounce. Not so well when it was bounce, bounce, catch. The timing of that was hard. As for kicking, Jen had not seen her kick in a while. Let's just say all the time on the soccer field has definitely had an effect! She can actually kick the ball with a bit of power now. She is definitely a left footer though! No power in that right foot.

All in all I'd say she worked hard and did a great job. She was thrilled with the stickers she got at the end and was happy to sit on the sofa and talk to them when she was done.

Next up? Get that kid a bike mom. She is ready to learn to peddle. Of course, I will have to keep a close eye on her as she is prone to wander!

Monday, March 21, 2011

Life in Pictures

This is what we do on weekends. Enjoy beautiful SC weather and watch Mckenna and the boys play soccer. She looks tough in her black, don't ya think?

I have to say, the kid has a great throw in too.

Ayden Jane and I enjoy a little game of our own on the sidelines.

This is what she would rather be doing. She is absolutely addicted to the monkey bars these days. If you look close you can see that these are a couple of sets joined. She climbs up the ladder and wants to go across them all! I am only allowed to hold her legs and told, "don't help me," when she maneuvers into position from one set to another. She will be doing them on her own in no time!

These are a couple of pictures to show I really did run the marathon. Here I am at mile 24!

Nothing like a hug from AJ before I go collapse! Noah is doing his best to convince her that she needs to let go of me before I fall and crush her.

Saturday, March 19, 2011

Beach and Eating Update

First the fun stuff. It was absolutely beautiful today so we headed to the beach. It has been a relief with all my kids when they get to the age that the beach is fun! I am thinking this is going to be a great summer. Mckenna is so excited about surfing she went out there today in the cold water even though the waves were, well, non existent. She will be willing to hit the beach for hours at a time this summer!

Ayden Jane is now a fan of the sand. It will take some time for the water to warm up to where she can handle it but hopefully it won't take until July like last summer! She was so excited to 'go surfin' today and was very distressed when the water was too cold for her to get past her ankles. Luckily there was a great tide pool that had warmed up nicely. AJ dug in the dirt, splashed in the water and collected shells in her bucket. So much fun.

As for 'eating like AJ', I have had good days and bad. I have discovered that I have become a pretty much non stop snacker. I can't say whether this is due to the 'sneak' factor of eating snacks around AJ or if is just from training for the marathon. I guess likely both. It is hard to spend sooo much time with AJ and manage to eat the calories required for the training without constantly feeding her. Solution became pretty much never walking through the kitchen without grabbing something. Usually that something was some sort of 'bar' or cereal or trail mix or bagel or cracker.... whatever is pre made and not messy. So far I have replaced much of this snacking with just waiting or with fruit and vegetables. I find as long as I don't start down the munchy road I am fine. "Just a few" does not work for me. Those few only magnify my craving (and yes, to date I cave probably 90% of the time)... Also, I have noticed how beneficial water is. I think that sometimes I grab a snack when, in fact, a glass of water is what my body is really looking for, just that I have destroyed its ability to read the signals. The other good positive so far is that I want good meat and vegetable suppers so I am way more motivated to make them happen. That is a great benefit to all of us. Did I mention I just do not like to cook? Oh, yea, several times...

Friday, March 18, 2011

Fun Week

Ayden Jane is on a great spurt right now. She has just had a terrific week and is so stinkin' funny. Don't get me wrong, she is still frustrating and can move at a snails pace at times but her energy level right now is at an all time high.

Some of the high lights: At horses on Tueday, Jen came for her monthly visit and Ayden Jane was out to impress. She loved showing Jen some of the 'tricks' we had been working on. Her favorite is to hold onto the 'handles' (circyncle?) with her hands, have her feet on the back of the horse and put her butt way up into the air. She gets tired in her shoulders and squats for a bit and then butts up again. This Tue. she asked Jen if she could fly. Jen had her in high kneel on the horse and the first time she held onto our hands up high. She yelled to Jen to come back and let her fly again with no hands. We did not really think she could do it... we were wrong. She was in high kneel, hands up high with us with a hand on each calf. Ayden Jane was grinning from ear to ear yelling, "look! I flyin', I flyin! She was so wired after that she was going strong at Noah's soccer game.

At the game, there was a little girl P who is about 1 1/2 or so. Ayden Jane was hilarious with her. At first she didn't know what to do with her. She couldn't figure out why she didn't talk and why she wasn't fast. After a few minutes AJ totally took the lead and kept telling her, come on P, run fast.... climb up high like me... You would think after all this from 5-8 or so AJ would have been pooped and gone right to sleep.

I sent AJ back to the bedroom to get ready for bed. This includes getting undressed, going potty, putting on her pull up and bringing me her toothbrush and tooth paste. Pretty impressive, but that's the good part of having a child who is ridiculously independent. Follow her and she will tell you, "go away, I do it myself!" Anyway, she came out as usual and grinned, "I put my pull up on, wanna see?" I said sure and she lifted up her shirt and showed me her nakey bumper! She thought she was the funniest thing on the planet and would have to agree it was darn cute!

Yep, that was ALL Tues.

It is Friday today and Thurs. and Friday could be there own posts. As this physical spurt has come together for her, her language has had some gains and losses. Gains in vocabulary and SPEED. The loss is in others understanding her. I am translating for her a LOT these days. Jen was even having trouble understanding her on Wed. We talked about it and we decided that Ayden Jane is talking so much faster (which is a plus) and using lots of new words that it is harder to catch what she is saying. She still has lots of articulation errors so now people who are not used to her speech just really don't have time to sort it out. I will take is a plus though! (and keep working the articulation)

Tuesday, March 15, 2011

A Narrow Path

So this may end up making NO sense. I am just warning you from the start.

It seems for Ayden Jane, Gary and I have a sort of 'narrow path' theory with PWS. It goes like this. PWS affects AJ by forcing her to walk a very narrow path with steep sides. It is like the rest of us have a path where we function best, but our bodies can handle just fine a day or two or even more of 'mistreatment'. You know like, not getting enough rest, not eating well, not exercising... Some peoples path is really wide. You know, the kid that can eat candy and ice cream as his main food groups and stay tiny with tons of energy. And some folks path is a bit narrow so that they do see and feel the effects after a fairly short period, but the 'slippery slope' on either side of the path is not too steep.

In food it looks like this: too little food or even just not the right kind of food and she is low energy. Too much food and she gains weight she cannot afford to gain. Very narrow path to stay on, very quick results if you veer off. So what does this look like in AJ? When she goes too long without a snack she becomes short tempered and/or just sort of stares and is an observer. If she eats too many sugars or carbs from grains, she rapidly gains weight and mentally processes things slowly.

In sensory input: too little activity or motion or sensory input of some kind and her little system gets out of whack. (Like car seat time...) too much sensory input and she shuts down and stares blankly. Surprisingly she does not seem to get irritated with too much input, just overwhelmed on the taking it in part so that she seems unable to respond at the time. Later we find out how much she did take in!

Supplements: I guess this really goes along with nutrition, but when balanced right, make big improvements for AJ. Hard to keep in 'just the right spot.'

You get the picture.... sleep, exercise, attention... all the thing important in the life of a 3 year old. When the balance is good with all, she can do amazing things but it is exhausting for those of us, okay me, who are responsible to keep this balancing act going!

Sorry if the analogy does nothing for you, but I warned ya:)

Sunday, March 13, 2011

Eating like AJ

Well, it is time. I have decided it is time to go back to eating like AJ. I say go back because I did so for a while about 2 years ago. At the time, I decided that if I was going to ask AJ to eat that way than I needed to walk the walk with her. I felt good physically and it was somehow good for me emotionally as well. (does that sound a little crazy?) The first week was hard, but it was really okay after that. So why did I quit? A little thing called a marathon. I just couldn't handle the discipline required for both at the same time!

I have decided it is time to return. Why you ask? Partially because it is good for me, but mostly because a huge benefit to it last time was that it forced me to become a bit creative with finding food alternatives. Nothing like going grain free and getting the late night munchies for a bowl of cereal, bag of chips...

So what does it mean to "eat like AJ?" For us it means no grains or sugars. Yep. Goodbye bread, cereal, oatmeal, crackers... No chips or cookies... No pasta (I am not a big fan anyway). We don't worry about the bit of breading on a chicken finger when we are out and about and we do give her dark chocolate for a treat. We don't really buy bananas because she wants them too often and they are about as high in sugar as it gets but she gets a half of one once a week or so at grandmas house. By eating this way with her, I know that I will be way more likely to search out things like almond milk or coconut milk "ice cream". Or grain free recipes. Or just do a better job making sure there are good meats and veggies at meals. Ayden Jane eats salad when I do so that really helps her too.

I will let you know how it goes! Just needed to write it down to make myself hold to it! The first week will be rough!

Saturday, March 12, 2011

Cruising Right Along

Ayden Jane is 3 1/2 and, in a way, I wish she could stay just as she is forever. Yep. Felt the same about my others at different stages, but with Ayden Jane the biggest reason is that right now things are easy. The gaps between her and her peers are quite minimal. Food is really pretty easy. She is not tall enough to reach top shelves and is content with the foods she eats. The days of special care nursery and failure to thrive are far enough away that the pain is dull.

So, where are we exactly developmentally? I am sure I will have lots of information on that in a month when we go to Florida for a PWS sibling study. For now, it is sufficient to say that with AJ's fall birthday, she will be in 3 year old preschool class next year and she talks up a storm. Sings several songs start to finish, knows most of her upper case letters and some of the sounds, knows her colors most days, counts easily to 10 and sometimes to 20, recognizes her name.... the basics. I have spent some time in her preschool class and I can truly say that she is right with the average student, just a little quirky and sometimes a bit slow to respond. She has shown, though, that even when she looks a bit 'out to lunch' she is absorbing everything like a sponge. (yep. just like those first months!) She has a tremendous sense of humor and is great at reading tone of voice, facial expression and has an excellent vocabulary with a bit of articulation difficulty.

We still have work to do for sure, but overall things are calm and happy.

So, what about the future? In some ways the unknown about her future is a blessing and in some ways it is terrifying. Knowing that AJ has already redefined what I was told about PWS when she was diagnosed allows me, no forces me, to dream big for her. That is exciting (and, of course a little exhausting) as we as a family will continue to be creative in finding answers to challenges one after another. It is terrifying as I know the 'possibles' or in some ways probables of those challenges. I just have to trust God that He will continue to guide us as we continue on each day. Then again, this is not a new concept that applies just to Ayden Jane! Kayla is gifted intellectually and has an incredible servant heart. What lights her up more than anything is telling me all about the kids she works with in an after school program, or about the girls in Guatemala she is now friends with after her mission trip there. How do we help guide her? Noah is athletic and bright and is a natural leader. How do we help guide him? Mckenna is summed up in Kayla's words to her the other day, "call me when you find something you can't do!" (and yes, it was said with love and meant as a compliment) How, oh how? do I guide this one?!?

The past 3 years have been, because they had to be, soooo focused on Ayden Jane. I am hoping that this phase with her lasts also so I can enjoy the incredible talents and blessings of my other 3 because ALL of them grow up so fast.

Thursday, March 10, 2011

Whew! And Belly Update

That's what I have to say about how fast time is going these days and how busy we have been.

Last weekend I took my parents to PA to see my niece in her high school musical. (She was awesome). It is about a 10 hour drive so I really, really, really did not want to take Ayden Jane. Jen (our PT) was planning on keeping her while I was gone, but her own little kiddos got sick. It was a sick, sick that I did not want to take a chance on AJ getting. Her active, healthy little ones took a week plus to kick it so I was not interested in finding out just how much it would wipe out Ayden Jane. I was to leave Friday morning and I spent Thurs. morning preparing to take her. Then, Thurs. afternoon I discovered that my sister was not making the trip! A loss for my niece, but a gain for me.

Now, lets put this into perspective. On Sat. night, I would be 10 hrs away and Gary would be over an hour away. Next in line to know all things AJ is Kayla, but she was with me in PA. The only other person to ever watch AJ for a significant period of time was Jen. Gary took care of shots before he left for work (remember he works night) and I wrote out whatever directions I could quickly think of. I did not prepare much for aunt Bev because I had started working on plans to take AJ and it was a late reversal. It seems all went well. When I ask AJ about it all, mostly she is just distraught that Aunt Bev does not have any balls to play with. Funny.

As for the hanging belly, it seems the tape has worked it's magic. We also have a new (used) car seat that AJ seems more comfortable in. Jen came yesterday and agreed she looked much better. She was able to get to some of the fine motor stuff we are beginning to work like scissors. Ayden Jane did okay with it, remarkably better than a few months ago when we tried. She also had her putting some teeny, tiny beads on a little heart. Ayden Jane struggled with this and tried to avoid it, but Jen convinced her to keep at it. Jen said that she is much more stable in her shoulder girdle so she is keeping her hands in better position.

As for gross motor, our homework was to learn to jump up on things. Mission accomplished. Now all I need to do is give myself an extra 10 min. for every errand I run! Every time we come to a curb, single step... Ayden Jane must jump down off of it, turn around and jump up onto it, jump down... until I can get her to come with me. It is adorable as long as I am not in a hurry!

One last thing of note. Ayden Jane had been wearing her crocs quite a bit lately just because they are easy and she can put them on all by herself. Tue. I decided we needed to get back into our 'jump highers'. Those are her tennis shoes with her orthotics in them. She calls them her jump highers because from the moment she first got the orthotics she started jumping over and over. We would be in the store and she would stop, feel them in her shoes and jump up and down... Well, we have had the same response. It is very cute!

Tuesday, March 8, 2011

Random Pictures

Here are some random pictures I found on my phone tonight while curled up with Ayden Jane. The first few were taken at a local play house. It is indoor and there are giant blow up slides and jumpy houses as well, but this cool tree house thing was definitely Ayden Jane's favorite.

First up, Mckenna (our PT in training) and Ayden Jane with a cool swing in the tree house.

Ayden Jane loved this big, soft, swinging, bouncing lounge seat up high in the tree house

Cute picture of AJ in Mckenna's hat

Making silly faces for Mckenna.

As if any 3 year old needs to be taught to pout! If you look close, though, you can see the scar on her chin where she had the stitches a while back.

Wednesday, March 2, 2011

Soooo Frustrated

Something about riding in the car or car seat or sitting still or.... is just awful for Ayden Jane. It is like it turns the tone completely off in her belly and she begins to get the most awful posture with her belly hanging way out and her shoulders back behind her butt. When she turns the corner into the room her belly is the first thing to arrive and the rest of her gets there a few minutes later. Okay, maybe that is an exaggeration, but it is how it feels.

Our last trip was on Sat. for Mckenna's soccer. The fields were about 1 1/2 - 2 hours away. On Sunday she was hanging out her belly with a vengeance! Today we had PT and Jen had lots of great fine motor stuff planned.... She took one look at Ayden Jane and said, "UUUggggg. What is that belly doing?" Ayden Jane looked at Jen and asked, "you bring any tape?" I guess the kid knows what she needs. Jen has not taped AJ in a long time but she did today. She taped the backs of her legs again to keep her from 'locking out' her knees. It is like magic! Even in the hour she was slowly improving. Jen did some other things with her to get that belly back in action, but it was so frustrating to be spending the hour fixing things we had already fixed!

Now, my concern with all this is two fold. One, I need to be able to take AJ in a car seat and not have a puddle of rotten posture afterwards. Two, I need to not use all Jen's time fixing the mess from going places because reality is, I am going to have to go places.

So at the end of the hour we went outside and looked at the car seat, talked about what AJ does when she is in the car seat and what options were available to try. Jen suggested a few interesting things. 1) put something under her feet in such a way that she is not just dangling her feet from the car seat, but has something to push her feet on that provides some feedback. 2) Move AJ to the middle so that she cannot push her feet on the back of my seat. She feels she is using the forward push to enjoy hyper extension of her legs and in the end aggravate the whole situation. (Note: see idea one to understand why she likes to push so much) 3) try padding the seat in different ways to add support and or change support to see if anything helps. I may even try to find some alternative car seats at second hand stores... to see if there is just a magic formula out there for AJ. I don't think it is a matter of a good seat or a bad seat, just trying to find the seat that fits AJ best.

I know that Ayden Jane has all the muscle she needs. I know that she has made the connections she needs. I know that she is completely capable of the tone required to stand properly. So why does this happen? Jen's answer to that is she feels that there is something either in the brain or some where in between that is like a gate that gets closed off. Everything works on either side of the gate, but they can no longer talk to each other. She says this is somewhat typical in kids with developmental delay... that's why they are delayed. LOL. There are 2 approaches. Either work from the brain out building the connections/skills or, as in the case of taping AJ, work backwards from distal to central. In the case of taping AJ, it is triggering her muscles to turn on in her legs (as opposed to locking her knees) which support the lower abs.... Voia La, the hips and shoulder girdle are now connected through the torso and everything is 'on.'

Fascinating as it all is to watch, I would be thrilled not to deal with this anymore so I am off to do some major car seat brain storming!