Sunday, July 28, 2013

Just When You Think You Have Things Figured Out...

Prior to heading to Dr. Miller we upped Ayden Jane's carnitine.  It was a missing link in her energy chain.  It was awesome to see her so full of energy!  At this point, the energy is not so huge, but she is still calm and happy and easy.  She is learning and funny.  She is not hungry.  She can go a long time between meals and still think clearly.  It is awesome.

The past couple of days there have been some spurts reminiscent of when she was little.  Just sort of leaps in skills.  I haven't noticed these sorts of leaps much in a while.  I guess I sort of figured that they wouldn't happen much now as she has accomplished most of the major milestones. 

Okay, so what am I talking about?  Here goes.  First up was at the swimming pool last night.  I know that Ayden Jane is always swimming.  She has been a good swimmer for a long time.  However, the coordination of a true freestyle has eluded her.  Her ability to motor plan alternating arms, kicking her feet... all together and then let alone breathe!  Last night I was speaking with a friend at one side of the pool.  Ayden Jane was swimming around doing her own thing and a nice woman (who I think was a bit worried that my small child seemed to be so unattended in the pool) asked Ayden Jane if she could swim.  AJ apparently told her she could and decided to prove it.  She swam a solid, controlled freestyle, took a breath TWICE and crossed the whole pool.  So cool!

The other shocker of the day came earlier on our way from the beach to the pool.  Ayden Jane started asking me how to spell things.  I have tried to get her think this way before and I don't know if she could because she just didn't want to play that game.  I turned her questions around and got her to try to spell a them.  Of course she could not spell them perfectly but she did a pretty good job of spelling them phonetically.  I was really surprised! Yep.

That's a lot of 'jumping' in one day!  And to think I was beginning to worry that her energy had dropped.  I am guessing that it hasn't really dropped, but been diverted to developing new connections.  Hoping for a fine motor jump soon!

Monday, July 22, 2013

The Winds of Change

The theme going into the fall is change.  Kayla is heading into her junior year at Clemson and is preparing for MCAT's and feels the clock ticking on decisions as to just what she wants to do.  Noah is heading off to his freshman year at Coker and his first venture into independence and managing his own time and money.  Mckenna is headed for middle school and all the fun and challenges of becoming a teenager.  Ayden Jane is off to Kindergarten at 'big school.'

Whew! At close look.  Kayla knows she wants to work in research.  She had a tremendous time shadowing at UFL and really enjoyed the specialties of rare disease research.  She can see herself specializing in something 'rare' and helping the patients and families...  On the other hand, there is so much out there and she really only knows the small amount she has seen.  She is planning on volunteering at Shriner's in Greenville this school year.  She has a scholarship which requires volunteer hours so it will 'kill two birds with one stone'.  We pray for her to hear God's voice in finding the right direction and fearlessness in taking those steps.

Noah is headed off on his own.  He has tremendous leadership skills, however he always takes a bit of time to 'get his feet under him.'  He will likely not enjoy the feelings that come with being a freshman on campus and trying to figure out strange computer programs, where to get help, how to....  He has a fantstic opportunity that he has truly earned both academically and athletically. I pray for a smooth transition so that all his potential can quickly surface and he can soar.

Mckenna is 12 and entering 7th grade.  Here that means her first year in middle school.  She is running cross country for the high school, still playing club soccer and should have a more challenging academic year.  In addition she plans to continue her art classes and is beginning to take up guitar.  Oh, then there is chamber choir and leading worship for the middlle school youth group.  Wow.  Now that I write it that is a LOT!  In a way, I feel like it is Mckenna's year.  I know that sounds odd, but Ayden Jane is older, finally healthy and in school a longer day.  Last year Noah was a senior and we did a lot to not miss his 'lasts'.  Gary spent a lot of time with Noah, just the two of them looking at schools or just hanging out as guys.  Mckenna is about to take over the role of oldest and I think she is ready to really come out of her shell.  (oddly enough the kid is shy and awkwards at times.  How a beautiful, brilliant, artistic and athletic kid can be shy and lack confidence I will never understand :)

And, of course, Ayden Jane starts Kindergarten.  I am excited for Ayden Jane and oddly not concerned about her.  Well, other than the frustration she will experience trying to keep up with the ability to write.  I believe it will be a big challenge.  Luckily, her social skills, reading skills and math skills are ready.

And me?  Well, I will have a lot less laundry to do and grocery shopping will be significantly different!  I really need to go back to work, but that does not seem to be looking like it's gonna happen.  I have big plans to learn to feed Ayden Jane (and the rest of us) better quality and shift AJ's diet a bit more toward fats for her brain.  I will keep a couple of my friends kids after school and substitute when I can.  I can't help but hve the feeling that there will be a significantly differnt feel.  I pray for patience and trusting God for the right job at the right time and that I will go where He sends me to make that happen. 

Gary has some decisions to make professionally as well so it promises to be a big year for us all. 

Friday, July 19, 2013

Florida Wrap-Up

I am feeling a bit drowned in medical stuff again.  It seems the feeling comes with the territory and I know that the feeling comes a goes, but it is still not fun when your in the middle of it. 

First up is easy.  Ayden Jane has a sore at the corner of her mouth.  Mckenna used to get them all the time!  Luckily, AJ does not have any desire to pick at it so we were just letting it heal and not thinking to much of it.  When we saw Dr. Miller she took one look and asked if Ayden Jane had it long.  Of course, I was quick to let her know it was not caused by the lovely skin picking habit of many PWS kiddos, but that had nothing to do with where she was going.  She said that those sores are a sign of zinc deficiency.  Crazy.  I used to have AJ on a zinc supplement and had just ordered some more because I was working through all the supplements I had used in the past.  I started it today (the sore has been there about 2 weeks) so we will see!

Next up, carnitine.  I am still at a dose of 1000 mg/day of CF and 500 mg/day of acetylcarnitine.  Dr. Miller is happy with that dose (yea me, I can do math).  I thought that AJ was beginning to smell a bit fishy which can happen if you take a bit too much carnitine, but Wed. we realized that AJ had a raging UTI.  I am keeping the dose up and waiting to see ....  I don't mind a bit of a fishy kid in the summer when we are swimming and playing, but I don't want to send a stinky kid to school.  The added energy is about to exhaust me, but how can I be frustrated with my PWS kiddo being too full of energy and have no need for snacks.

Dr. Miller brought up the idea of a prebiotic to go with AJ's probiotic.  Way too soon for me to know what I want to do with that thought yet, but it will keep me busy a while.  As far as I can tell, a prebiotic is basically food for the probiotic so it seems like it would be a good idea but I am sure it is more complicated than that.... It always is.

Lastly, Wednesday we met Jen (PT) at Mr. Alan's (Orthotist) office to put together a 'derotational strap'.  What is that you ask?  Basically, we still have trouble with Ayden Jane's right leg wanting to internally rotate at the hip.  AJ she has stretched some ligaments ect. over time by sitting in a poor position with that leg.  It even accentuates her scoliosis when she gets back in the bad habit.  The idea with the strap is to hold her in proper position so her muscles get used to working that way.  For us, we have been wearing it when we walk the dogs.  So that means however long it takes us to walk 2 miles every day.  I have to say that the kid is again amazing.  She just takes the added hardware and extra work in stride.

Dr. Miller wants me to check in by email in a month with dosages, hts and wts and a quick report.  We may then look to play a bit more and see if ribose does anything for her now since it really seemed to help when she was little.


Wednesday, July 17, 2013

Krebs Cycle

Ayden Jane asked Dr. Miller why she can not eat sugar (carbs).  Dr. Miller gave her the same answer I have given her.  "Your body can't use sugar."  Ayden Jane finally got to ask Dr. Miller the bigger question.  But why can't my body use sugar right?  Dr. Miller told her it was complicated and asked her if she wanted to see a picture.  The diagram she showed her was of the Krebs Cycle.  I don't think it was exactly this diagram, but I don't really understand it anyway so ...

Diagram of the Krebs Cycle

She told Ayden Jane that is was the diagram of how bodies get/use energy.  The problem is that in Ayden Jane's body sugar cannot enter the Krebs Cycle and be used for energy so all her body can do with it is to store it in fat.  Additionally, when she eats sugar and starts to store it, her whole Krebs Cycle does not work very well and even the good food can't be used as it should.  As her body would then be lacking in energy she would feel more hungry.

Now, obviously the whole process is way more complicated than that (and quite frankly this is just one of issues in PWS) but it was perfect for Ayden Jane.  She totally got it.  After we left the office, I let AJ have chicken fingers for lunch.  She asked if the 'crispy' was bread.  I told her it was and she informed me that she can't really eat that cause bread is sugar and sugar can mess up her "energy circle."  We decided we would pull off what we could and just not eat them often.  Impressive!

Since then she has asked why Noah's Krebs Cycle works but hers doesn't.   Uggg.  Do I really have to explain genetics to a 5 year old?  She also wants to know how we learned that it doesn't.  She asked how Dr. Miller knows those babies we met can't use sugar when they are just babies.... Dr. Miller got off easy.

Sunday, July 14, 2013

Road Trip

Ayden Jane was beyond awesome today.  She set out on a mission to help me by doing her part to make this a great trip.  She was so excited for the trip that she did not sleep much last night and woke me up way earlier than we needed to leave but hey, excitement beats dread so I went with it.

It is funny how excited she gets over little things.  Like when we stopped and found a play place.

She cracked me up as she entertained herself by counting the pages in her bible.  I know, you'd think that would drive ya crazy, but she was giggling and found herself so funny when she got stuck or mixed up and needed help I couldn't help but laugh with her.  She/we counted 197 pages.

Ayden Jane is so excited to see Dr. Miller tomorrow.  She keeps reminding me that I do not get to do all the talking because Dr. Miller wants to talk to her too.  Also, she gets to ask Dr. Miller any questions she wants!  I hope Dr. Miller is ready.

Ayden Jane's other goal is to get another Florida Gator.  She brought the one we got last time so I sure hope we can find another one!  She also wants to see some real ones.  Hmmmmmm.  Hopefully the day will go smoothly, Dr. Miller will have some great ideas for us, AJ and Dr. M will forge an alliance against PWS and we will find some cool stuff to do on the way home.

Friday, July 12, 2013

UFL Bound

We, Ayden Jane and I, will be leaving for Gainesville on Sunday to see Dr. Miller.  It has been over 2 years!  Honestly, I had called for an appointment because it was time, Ayden Jane has been through so much since we have seen her and because I could not figure out what the missing piece was.

It is sort of ironic that at the moment, with the added carnitine, Ayden Jane is doing the best she has since the fall after I saw Dr. Miller last.  Dr. Miller helped us through a lot of the scary, confusing stuff over this time and I am thrilled that she will get to spend time with Ayden Jane Monday and hopefully have some suggestions of what else we can do.

I also have another plan for our time.  Ayden Jane has been asking lots of questions lately about why her body works the way it does.  She is not rebelling or even complaining, just curious.  I explain it as best I can but I am thinking that Dr. Miller will be perfect for all her questions.  The answers will be more clear, Ayden Jane won't be able to argue with them and there will be total back up for what we need to do daily. 

Ayden Jane is very capable which means that she will be invited and a part of situations which will require her to understand how important her 'food rules' are.  It is a lot to ask of a rising Kindergartener, but I just think that she can handle it.  She has a pretty amazing understanding of a lot of things medical already.  Guess we will be adding genetics and endocrinology to her repertoire!

Tuesday, July 9, 2013

Sometimes It's the Simple Things

Ayden Jane had her horrible winter of infection a year and a half ago.  During that time and for the summer following we worked hard to get her immune system strong.  She struggled to recover stamina and strength long after the illness itself was gone from her body.  We figured that, for AJ, she just needed longer to recover and we tried to come up with things to help with that.

I am thrilled with the return of the complete Ayden Jane.  I am having some trouble not being angry with myself for not thinking of the carnitine sooner.  I mean, I knew the kid had early lab results that said, "impaired peripheral utilization of carnitine" whatever that means.  I knew that it was beneficial and that multiple forms were a good thing.  I knew that I used to give her more when she was not as big as she is now and that it is weight based dosing.  I knew that I had run out of one I used to use and that it was no longer available but I did not make the effort to search out what I wanted and get it...  Yep. A little frustrated with the Momma.

So, lesson learned for me is that sometimes it's the simple things.  Instead of looking for new problems or trying to find complicated reasons for things being a little off.  First look for the simple things.  Why not?  I could have corrected the carnitine issues on my own in a very short time.  Instead I wasted a lot of time looking for complicated answers to the subtle differences I was noticing in both physical and mental energy.

So, what dose of carnitine am I using?  Ayden Jane is on a dose of 57 mg/kg/day.  So, for those that like math lessons here it is.  I give AJ 1000 mg of carnitine fumarate divided into morning and afternoon.  She also gets 500 mg of acetyl carnitine divided the same way.  So.... 1500 mg per day and Ayden Jane is about 26 kg.  So.... a ratio of roughly 40CF/20 acetyl. 

Monday, July 8, 2013

Carnitine Rocks

Ayden Jane has had several days in a row now with significant improvement in energy both physically and mentally.  Also it has had the awesome side effect of reducing anxiety and hunger!  (I am guessing that is due to not feeling 'out of gas')

Today is a great example.  Ayden Jane woke up about 6:30 or so as usual and came in to our room.  I turned on her shows and she curled up and watched 'til Momma was ready to get up.  We had breakfast about 8 and she headed out to play with the dogs and swing.  By about 10 I woke up Noah and put him in charge so I could go run errands.  AJ came in and played play doh and puzzles and was just happy to hang out until I got back. 

I came home around 12 or so and we decided to go swimming.  I suggested lunch before we left and she was good with that.  By 1 we were on the beach and Ayden Jane swam and played for 2 1/2 hours.  She drank some green tea and asked to go to the pool.  I figured why not and wanted to see just how long the energy would last.  A friend from school was there and they swam for another 2 or so hours!!  He had a big blow up boat and they climbed in and dove out of it for the last hour.  It was HARD work.  I had to make Ayden Jane leave and when we got home she decided to shower before supper.  It was 6:30 before she ate and she was not concerned.  Seriously, nearly 5 hours of swimming and going on 6 hours between meals with no snacks!

The story is amazing enough if I stopped there.  After supper Ayden Jane asked if we could still walk the dogs.  The route we take is 2 miles.  She walked the whole thing with no problem.  We came back and had supplements, a popsicle and headed for bed.  She was cooperative and fun and Gary read her a book.  Asleep at 9:15!!  That's right, no nap and all that activity.  Whew.  Now if I can only manage to keep up with her.

Details about forms and dosages ect. to come.  Tonight I am just going to enjoy!

Saturday, July 6, 2013


Supplements are a part of all PWS families.  For some kids supplements provide great benefit and for others not so much.  No one really knows why some kids respond so much better than others or why one supplement 'works' for one kid and another one doesn't.  Ayden Jane is a big responder to supplements.

I have been reminded of that lately.  I have had a 'momma knows' feeling about Ayden Jane for a while.  There has been a lack of stamina and energy.  Not enough to ruin her days, but a noticeable difference to me.  When we did the last round of labs we checked her thyroid thinking maybe that was it.  Nope.  I also thought that maybe it was time to go to B12 shots instead of oral.  Nope.  And nothing else really stuck out either other than the eosinophil counts which may be messing a little with her gh.  Not enough to satisfy my hunch.

I decided to look at Ayden Jane's supplements and dosages...  B12 was taken care of by the labs.  Fish oil, well it's good for you but not going to rock your energy world!  Creatine is something that she has been on off and on so I put her back on it with a good dose.  It has never been an energy booster, but I know that it helps her build muscle...  Iron is dosed appropriately.  Vitamin, check.  Lastly, carnitine.  Aha!

I ran the math to see how much Ayden Jane was getting compared with how much she should be getting.  Basically, her dose was so low that she might as well not have been taking it.   After emailing a bit with Dr. Miller we settled on a dose which combines Carnitine Fumarate and Acetyl carnitine.  I had the CF already so I jumped on that.  Today I added the Acetyl. 

Early results make me say BINGO!  I need to tweak amounts and combinations and timing during the day over the next week or so, but I am really pleased with the increase in stamina for Ayden Jane.  Also, her words are not getting so stuck.  Now it could just be that she had a couple of good days, but only time will tell.  I'll let you know!

Friday, July 5, 2013

Busy Summer

Summer is flying by!  Last weekend we had a great visit from the Shenk clan.  Then came the 4th of July at the beach.  Wow are there a lot of people in Pawleys Island!

Next up is planning a trip to see Dr. Miller.  Looks like it will be just me and Ayden Jane.  Wish Gary could come, but it is just too short of notice for him to change his schedule all around.  Should be quite an interesting trip.  (interesting is code for hoping I will retain my sanity)  Ayden Jane is not known for traveling well.  I sure hope she decides that watching movies is a good idea FINALLY.  Usually her favorite way to travel is to talk non stop.  Sort of like whoever is in the car is a captive audience and she is determined to use every minute of their time!

One thing not going great is that, just like last summer, Ayden Jane is developing some internal rotation of her right leg.  Jen and I cannot figure out if it is because she just doesn't spend much time in her orthotics or if it is something she is doing in the way she is swimming or something else.  (Losing one shoe with her orthotic in it last week is not really helpful either)  What we do know is that by the end of last summer it was getting out of control and her scoliosis began.  Jen did some exercises with AJ found muscles she did not use... pretty much at all.  She worked on them a bit and then rigged up a 'derotational strap' out of theraband.  It was amazing to see her use her right leg totally as it should for the first time in a looooong time! Then she had her jump up on a square and AJ landed it perfect.  Jen asked her to jump backwards off the square.  AJ has never been able to do this without losing balance.  Yep. She nailed it ... repeatedly!

A couple of days after we get back from Florida, Ayden Jane and I will meet Jen at Mr. Alan's office and we will be all fit for new orthotics and an official derotational strap.  It will be awesome.  The plan is to take our walks with it on or something like that.  Use it a few active hours a day.  Then it will be 2 weeks of a swimming class, hopefully and she will finish the summer straight and strong and oh so ready for Kindergarten!