Tuesday, June 24, 2014

Swim Team

Ayden Jane had one major mission this summer.  Swim team.  She has sort of lurked on the edge of swim team and, although she tried, was just not ready to compete with the other kids.  Of course, she was also younger than most of them...

This summer she is 6 and can swim in the 6 and under age group.  Perfect.  She will be one of the oldest kids in her age group and quite honestly, none of them will be setting the pool on fire.

AJ has regular swim team practice two days a week with an optional Saturday start clinic.  Even though Ayden Jane was asking if she could race, I skipped the first meet because she had not even seen the pool where the races take place and had never tried to dive off a block.  I couldn't just throw her in so we went to the start clinic on Saturday.

Okay.  Ayden Jane does not even know how to dive.  Her instructor, B, is amazing with her.  He just tells her what she is supposed to do and gives her time and space to try it.  She still doesn't really dive, but she has a confident belly flop and just swims on like her dive was perfect.

I was talking to B after practice yesterday.  I mentioned her racing and starting...  I was a little hesitant still thinking maybe she should work on it a bit more before putting her up on that block on her own and finding out if she will 'dive' in and swim or just turn to the person behind her and interview them before swimming.

B told me how awesome Ayden Jane did.  He was impressed with how she listened and how she was just not afraid.  He said he hesitated when it was AJ's turn to climb up on the block (he started working with all the kids on the deck) but Ayden Jane was already climbing...  He says throw her in the meet now and don't worry about it.  He will be there cheering her on and telling her what to do if she needs help.

One more practice tomorrow and then Thursday is the big meet!  No doubt she will do it in Ayden Jane fashion.  Fearless and on her own terms.

Sunday, June 22, 2014

PWS Hunger?

A few times lately Ayden Jane has talked about being hungry.  Not the sort of, "hey there's food, can I have some?" sort of thing she used to do.  She has finished a meal and then 15 minutes later said she was hungry.  I just reminded her that she had just eaten and told her that her belly was trying to trick her.  She didn't really ask more questions and just went on her merry way.

Since then, I have heard her tell her belly, "be quiet belly.  It's not time to eat right now."  It is both really cute and really sad.  I don't know if this is a PWS sort of hunger or not, but it does seem to be different.  It seems more intense and almost painful.  I don't really ask her to describe it or talk much about it other than what she chooses because it seems like that would somehow give it power.

For now, she uses her head to think about when she just ate.  Sometimes she asks when we will eat next and then she just tells her belly to be quiet and let her play.  Other times, when she is hungry at mealtimes you can just tell it is different.  Often she will even used different words like, "I am out of energy and need some supper."  There is no huge sense of urgency about it.  And still other times I know she needs to eat because it has been a while, she has been playing hard and she is argumentative.  Often times at this point you have to convince her to eat because she will refuse and think she is not hungry.

I guess in the end it is just evidence of how 'off' her hunger and satiety cues are.  She is not at all food seeking and wants to 'be healthy' so will ask for help as it comes to food and portions.  The other night she asked me, "do you think I am pretty amazing the way I control my food?"  No lack of confidence here... she just loves to hear how amazing she is.

Wednesday, June 18, 2014

Summer Week Two

This week Ayden Jane has gone to Vacation Bible School.  She is having a great time with her friends.  I love how excited she gets over little things. 

She is still not totally back to her old self from strep throat and then secondary infection.  Some pretty major snoring is going on and she has a stuffy sound like her passages are blocked.  In talking to Dr. M we dropped her gh in half for a few days and it seemed to help.  The explanation is something like this.  There is no scientific evidence that supports dropping or stopping gh when ill but just a feeling that sometimes it helps to reduce the metabolic demands.  Sort of allowing the body to rest and relax a bit and therefore drop the inflammation.  I don't know if that's why, but it definitely helped AJ.  We were at a half dose for a few days (0.4) and the snoring stopped and she was able to really blow her nose.  Yesterday I went back up to 0.6 but as I am typing now, I am listening to her snore from her bedroom.  Thinking it's gonna be 0.4 for another day or two.

Today in PT Jen did our annual evaluation.  Basically, Ayden Jane has topped out of the standard developmental tools, so we just looked at 90 day goals and talked about some options.  On her goals was riding a two wheeler.  Check.  Dribbling a ball 5 consecutive times.  Check.  Jumping rope (with some modifications) Check.  Lots of other patterns of movements I don't want to describe.  Check.   Ayden Jane made significant gains in coordination and motor planning and combining skills. 

Question came as to where do we go from here.  Stay at once a week, drop down to once a month or even look at dismissing.  I told Jen that Ayden Jane already was pretty sure she was going to college with her when the time comes so dismissing really isn't an option. 

We decided to finish the summer at weekly and then look to drop down at the next 90 days when we start first grade and have lots of other things to work on.  She asked me what my concerns were.  The biggest two PT things are body awareness as she is back into a phase where she is just crashing into things, spilling things, knocking things over... basic bull in a china shop issues.  And the visual piece with cross dominance being an issue.  (It is so cool to have a PT that can work so many things.)  Also, I think we need to keep an eye on the back and the legs.  Typically summer, when we are out of orthotics a lot and running around barefoot is when AJ gets to really rotating the right leg in a not so good manner.  It has happened the last two summers.

If all goes as planned, AJ will have drop down to having PT monthly in Aug/Sept.  Wow does that seem like a major milestone!  It has been weekly for 6 years!!

Wednesday, June 11, 2014

Summer Days

Summer is off to a great start.  I am adjusting back into life at home and mostly hanging out with Ayden Jane.  I am trying to get her totally healthy again after she had strep throat and then an upper respiratory infection on the tail end of that...  She is supposed to be taking in easy per Dr. M's orders, but that is no easy task on the first week of summer!

It has been entertaining/exhausting to hear her questions and get glimpses into how she thinks and how her brain is constantly trying to organize thoughts about everything.  Building a sandcastle leads to wondering if God made himself?  She rambled in a circle for a minute:  Did God make himself or did something else make God.  If something else made God than it would be more powerful than God so that can't be right.  What do you think mom?

Next was a random thought about baby Jesus.  If Jesus was God even when he was a baby, then did he already know everything and be able to do everything?  That would be cool to see a tiny baby that could do everything already.

She doesn't muse about only religious topics.  So today she asked me what's the difference between a nurse and a Dr. I told her that Drs. go to school longer and learn more. So we chatted about Daddy being a nurse and what he does....

Then she asked what's the difference between a regular Dr. and an 
"en-do-crin-ologist"?  So I proceeded to explain what specialists are and how 
they are 'regular' doctors first and then decide to concentrate on one area.  
Sooooo (yea, you didn't think she was done did you) then she wanted to know 
what's different between Dr. Miller and Dr. Clark since they are both endocrinologists.  
I told her that Dr. Clark sees and treats kids with PWS but also kids with other 
problems like diabetes and Dr. Miller takes care of only (okay, so that's an exaggeration but go with it) people with PWS and spends part of her time trying to learn new things about PWS.  Whew.

So her response?  "Yay!!  If all she does is Prader Willi Syndrome than she 
should be able to fix my Krebs Cycle soon, don't ya think?"  My standard answer 
for the next two weeks?  You should ask Dr. Miller about that when you see her 
:)  Looking forward to seeing her at a conference soon and listening to Ayden Jane fire questions at her!

Tuesday, June 10, 2014

Ayden Jane is doing her best to get rid of what's left of the crud.  She is torn.  She wants to play all out because it is finally summer, but keeps wearing out!  She should probably be taking it easy, but that is easier said than done.  Her style tends to be play til you drop, then sleep like a rock.

The transition to summer has her spinning a little for structure.  She makes me crazy and cracks me up all at the same time.  She wants to go to the beach and the pool everyday.  Plan walks for the dog, hit the water park ...  Today at the beach I kept saying, "we have lots of time.  We don't need a plan.  Let's just enjoy what we are doing and not worry about what we are going to do next." 

Ayden Jane's version is, let's boogie board, then eat my snack.  After that we can build a sandcastle and then take a walk.  While doing one thing she is talking about the steps to follow.  She wants to know how long we can 'surf' so that we have time to fit everything in...  

Summer goal one:  Enjoy what you are doing and relax!  There is time to do everything fun and have fun doing everything!

Sunday, June 8, 2014

A Lot to Catch Up On

It's official!  School's out for the summer!  I think I am more excited than Ayden Jane!  I enjoyed my return to teaching, but was definitely thrown in full steam ahead!  I'll catch up on all the 'events' of the spring as we go through the month.  I am glad to have time to get back to writing it all up.

First up, a while back Gary really threw us a curve.  After being sick with general asthma/respiratory stuff for a while and being sedentary he ended up in the hospital with 16 clots in his lungs!!  The good news is that his heart checked out as fine along with most everything else. He threw a clot from his leg due to being down for the count with the other illness. He is/will be on blood thinners for a while and is starting a road to health himself.  Hopefully, he will be back in full action and feeling much better before too long.  (although it will not be an easy task)

Gary and Ayden Jane had an adventure this spring as well.  Many mornings I left Ayden Jane 80 percent ready for school and it was up to Gary to finish her off and get her there.  AJ gave him an awful time!  He was not full strength and AJ wanted things the way she had been used to since the start of school.  Mommy's way.  I think I basically set him up for failure!

Then throw in strep throat just to put AJ in a foul mood and finally an end of the year sinus infection.  These make her down right argumentative and Frustrating!  Not to mention hungry, emotionally unstable and impossible to please.  Gary may actually be the most happy about school being out and me being back home full time!

Sunday, June 1, 2014

May Q and A finished up

Q: I know PWS is a genetic syndrome, so does that mean it runs in your family?

A: Short answer, no. You have to know by now though, that I can't leave it at the short answer. I am compelled to explain. ha!

PWS is genetic in that it occurs as a result of her genes. The most common way for PWS to occur is by a small deletion on the 15th chromosome. That piece that should have been donated from dad was just lost way back in the beginning when cells divided. In Ayden Jane's case, there were 3 pieces (trisomy), 2 identical pieces of my chromosome and the one from dad. Since trisomy in that particular region is "not compatible with life" the extra is kicked out. Only in Ayden Jane's case the 'extra' was daddy's so she actually has two momma chromosomes in that little spot. (there is one other way but I will come back to that)

The result of both of these is that every cell in her entire body is missing this tiny piece. It is a very complicated region which helps to direct the hypothalamus and control temperature regulation, sleep cycle, energy balance, satiety, hormones, endocrine system .... okay so now you realize what Ayden Jane and her friends are up against!

In both of these forms of PWS (called deletion and UPD) the PWS just a random occurrence. It occurs in approximately 1 out of every 12 or 15 thousand births. Nothing we did caused it and there would be no greater risk of it happening again if we were to have another child. (NOT happening)

The only way that PWS can be an inherited syndrome is in a specific portion of cases where it is caused by an imprinting error. All the correct pieces are there but they are turned off. If a child has PWS by imprinting defect it is best to discuss with a geneticist if they are the very small portion that are at higher risk for future children to also be born with PWS.