Dr. Miller Visit

We headed south for our annual visit to Dr. Miller. It is always great to see her and let her squeeze Ayden Jane and chat with her and let us know where things look great and where we can make improvements. I knew this year we went into the holidays looking fantastic and was hoping to skip the winter slump. The flu messed with all of those plans, but at least Dr. Miller felt she still looked good. We definitely need to work on her core a bit, and I'm wondering if there will be anything to show up in the labs we just drew this week.

Ayden Jane seems a little off to me. I am not quite sure how to explain what I mean. Things like a little tired. Reduced exercise tolerance. Talking a big game and wanting to do things but just not being able to get motivated to get out the door and do them.

Bump in gh? Thyroid finally failing? She is sort of doomed there. 2 of my typical kids are hypothyroid and, of course, PWS raises that risk significantly. Vitamin D? Iron? So many things to keep track of.

We also decided to increase her Pitolisant dose slightly. Hopefully there will be some good results from that. In large part, it has just been a pain to cut the pill into quarters and I feel like it leads to dosing that is not consistent and a bit of loss. Today was day 2 which typically is rough. I'm not sure why, but in the past on day 2 Ayden Jane is usually quite tired, has a headache and is grumpy! So far today, it has not been bad so I'll take it! She did take a nap for about an hour and a half and recognized that she was tired and did not want to even try to run. Tomorrow, day 3, should be the rest of the adjustment and hopefully she will rock school on Monday.

Posting about my poor parenting effecting school tomorrow.

Endocrinology

Today was a visit to Dr. Clark.  She is our 'local' endocrinologist and she is awesome.  Local is in quotes because it is still a nearly 2 hour trip each way.  Don't get me wrong, it beats 6 hours to Florida, but still doesn't always feel super local.

We see her every 6 months and she has a great eye on Ayden Jane.  Dr. Clark hung with us through the 'winter of infection' when Ayden Jane sort of fell apart.  She has been helping us to get her straightened out again and yes, it is now 2 years from when things hit rock bottom.  The numbers, you know, height and weight numbers, two years ago showed AJ's growth slowing, weight rising and BMI not good.  A year after that things were a little better, but still not where they needed to be.

Finally, 6 months ago we had all supplements at the optimal dose for AJ and her lab work finally back to a good place. 

Today, as we reviewed how Ayden Jane was doing, we found that the last 6 months she grew a lot.  She grew 1 3/4 inches.  That is nearly double the expected growth.  Although Ayden Jane's weight is not optimal, it is not far off of where it should be for her height at this age so her BMI is significantly better than a year ago and most of the improvement was in the past 6 months.  I am thrilled because with as cold and nasty as this winter has been I felt like she was not as active as I'd like.

So excited about where we should stand by the end of an active summer!

We also did a bone age x-ray.  Last year at this time Ayden Jane's bone age was 1 year advanced.  That's not the end of the world, but it is not good.  If bone age is advanced then growth plate close early and bone growth ends early.  Advanced bone age is often a signal that gh is too high.  We thought that Ayden Jane's high IGF-1 levels due to her illness was likely to blame.  Today that was confirmed.  Her x-ray's today show her bone age still advanced, but only by 6 months.  Yippee!!

We talked about doing labs because Ayden Jane is actually quite under dosed if you do a weight based dosing of gh.  We are going to wait a little until all the crazy skin stuff is passed and I am sure that she is/has been healthy for a good while.  (oh, I'll fill you in on the crazy skin stuff another night)

Lastly, a great AJ story.  As we drove to endocrinology I decided to swing through Sonic for drinks.  Ayden Jane thinks that an unsweet tea with a bit of raspberry is a huge treat!  I handed it to her and waited for the food I ordered for me.  Ayden Jane says after taking a sip, "Mom, can you taste my tea?  I think it is sweet tea and it will give me a giant headache and take away all my energy."  I had forgotten to taste it and Ayden Jane had saved the day.  We talked about what a great choice that was and how proud I was of her for taking great care of herself.  She really amazes me sometimes..

B-12

So, here is part of an email I sent to Ayden Jane's endocrinologist.

Okay, so we have mentioned supplements and I told you that some of them had dramatic effects when young but I wonder sometimes if they make a difference now.

B-12 --  My, oh my, oh my!  Here is the scoop.  I give Ayden Jane 2 doses of B-12.  One contains 1000 mcg of cyanocobalamin, B-6 and Folic Acid.  It is a chewable from Bluebonnet.  The other is 5000 straight methylcobalamin chewable from bluebonnet.  I ran out of the methyl form end of last week and didn't make it to the little health food store in town that sells them.  No worries... I went Monday and they were out of them because they were back ordered.  Hmmmm.  Next order coming in Friday... eh, I could just order online.

Monday AJ had a not so great day at school, but manageable.  At the playground during Mckenna's soccer practice she melted down over peanuts.  She could not plan past the one little road block... Then she chose to watch kids play way more than play.  Odd, but she is 4 I figured.

Tuesday at school, she decided to help herself to a snack of blueberry muffins!!! (They caught her one bite in)  She has had NO issue with eating a different snack and has turned down an option when offered. She proceeded to argue her case over these and to have melt downs over nothing and her teacher (who is AMAZING was really concerned!).  Horses went fine in the evening and then she was uncharacteristically difficult at Noah's game afterwards.  We just took her home early and she went to bed.

Wednesday she woke up great and I expected a great day at school.  Wow was I wrong!  When I picked her up, AJ had been asking for food, totally unstable emotionally and not able to solve a single problem for herself.  They actually had to remove her from the room and take her for a walk to calm her down.  She has never struggled anything like that. Next came PT.  I did not tell Jen because I wanted to see what would happen.  Finally, after about 45 min. 2 major falls and Jen getting concerned something serious was going on I told her of my suspicion that it was B-12 related.  She said that what she saw was AJ's motor planning and body awareness were way off.  Ayden Jane also had moments of staring into space sort of half here.

So, Wednesday after all this had transpired I had a chance to think about it all over the course of the past few days other notable things:

1) The past several days Ayden Jane was R E S T L E S S in her sleep at night.  She was talking, fell out of bed and was just generally all over the place in her sleep.

2) She was constantly attached to me.  And I mean touching, squeezing, banging into, climbing on, wrestling with... 

3) Argumentative.  And I mean more than usual :)

4) Falling a lot.

5) Completely unable to talk and do anything at the same time.

6) Fell asleep in the car on errands.  This is the kid that talked in the car on a trip to Richmond from bedtime to    10 pm because she just doesn't sleep in a car with a captive audience!!

So what is a Mom to do?  Drive to the not so near vitamin shoppe and see what I can find.  I found this: http://myessentialsource.com/?p=146

I gave Ayden Jane 2 Wed. late afternoon. She slept much better... Although did wake me up at one point to tell me Go Bears!  (Gary's a Chicago Bears fan)  Of course she was still sleeping, but she was in one place much longer with little thrashing about.

Then 2 Thursday morning.  Thursday at school the report was that she started to spiral down, but was able to catch herself and turn it around.  She skipped the nap Thurs. afternoon after school even with Easter party (and not food issues), and an OT eval.  She did great in the OT eval (Which means she did poorly enough to qualify), although fell off her chair 3 times... and a few other non AJ like things.

Bizzare!  But sooooo not giving up the B-12 EVER. 

Endocrinology

A few days ago Ayden Jane had an appointment with our 'local' endocrinologist Dr. Clark. It is a 2 hour drive so I am not so sure how local she is, but she is definitely worth the trip.

Ayden Jane was a bit grumpy by the time we got to talk to Dr. Clark, but that did not keep her from doing great. She grew a HUGE amount since our last visit in Feb. She measured 41". Her height percentile has gone up to 80th which I would guess places her about where she would be if she were non PWS. The other 3 kids were 85th and above percentile kids. As for weight, she weighed in at 37 1/2 pounds. That places her around the 60th percentile for weight. Her BMI was (15?) and places her around the 45th percentile. I'd say pretty awesome for a kid with PWS!

She asked about her motor skills and it was exciting to be able to say she swims, rides a bike, swings by herself...

Speech is great in the vocabulary portion, but we talked about some of the articulation issues and the occasional stuttering. Things that the impending return to speech will hopefully get back in line.

I described the sensory piece we still definitely see...

We talked fine motor and the challenges ahead with handwriting, cutting...

We talked about whether or not to check IGF 1 levels and decided it was not necessary now, but to call her and let her know when I felt it was time. I usually 'see' the need to bump gh in Ayden Jane when it is time. Dr. Clark explained the importance of bone age. I assumed they checked it to be sure gh is dosed correctly. I asked her about it (it was done in April and AJ's was perfect) and learned that part of the trouble with added weight is that it can cause the bones to age early and therefore close the growth plates sooner. This, of course, results in stopping the growth early.

We talked about the iron and the B12 and the other supplements and what I think I see from them.

She asked why I thought AJ was doing so great. Did I think it was the diet, the supplements, therapies, something else... In the end, I am thinking it is all of the above. There is benefit from each piece that we are doing. Then there is the genetics underlying all of these things. So, I would say that Ayden Jane has a genetic make up that would likely have been very lean and athletic and high metabolism (that is my body type). Add on top of that giving her foods that her body is good at using and the supplement support. Add the iron and B12 to smooth out some of the neurology and she gets pretty close to typical development. The amazing thing to me is how tenuous the balance can be at times. Lack of exercise and she is crazy, the wrong food and she is spacey, lack of supplements and the "PWS pause" comes back and she just cannot think or react quickly.... Stop therapy like speech this summer and we slide backwards. The list goes on.

I have to say, I love how much the current package is helping her but I sure hope that some of the incredible research out there will make it a whole lot easier to maintain that balance and give us a little wiggle room.

Endocrinology galore

Ayden Jane and I went to our "local" endocrinologist today. I put local in quotes because it is still a two hour drive, but totally worth it! Dr. Miller in FL is also her endocrinologist, but we do not see her too often. Mostly I keep her up on Ayden Jane's height and weight, recent lab work...and she is amazing at answering any questions I might have along the way.

The trip is never fun for Ayden Jane. Two hour drive, sit in Dr. office, chat with Dr., two hour drive. Uggg. So, what were the results? I would say that we are in good shape. Ayden Jane is 38 5/8 inches. (3' 2 5/8") and 35 pounds. The height is great as she has been gradually climbing in her percentile for growth. She is up to about 60th now. Kayla and Noah were 95 th and above growing up and Mckenna is our 80th percentile or so kid. I think AJ is just trying to be one of the gang.

Weight was a bit elevated at 35 pounds(70th percentile), but she pretty much ate and drank her way there and was not interested in going potty. I know it sound crazy, but she can hold volumes when the mood strikes. Also it has been a long cold winter and there is just not much to do inside here. I am really looking forward to seeing what she can do this summer in the pool, on the beach, on the playground... Also, if you could see and feel her, you would notice muscle mass. Yep, she is a kid with PWS, but she has some good muscle, at least in her legs. I am even having a hard time giving shots in her legs because they are too dense and the needle cannot dispense all the meds. I end up losing more than the usual drop or two. Belly? Not a chance, there is nothing there. Poor little rear end.

On the iron front, Dr. Miller explained quite a bit to me as to why I am seeing the effects that I am seeing. It is nice to know I am not completely crazy! Anyway, she also cautioned that blood levels need to be checked because iron is something that can be over done. We agreed that since I am seeing her in April (2 months) it is okay to continue for now, but she will check it in April. I am going to also back it off a bit for the couple of months and see if I can get the same results. Maybe a 1/4 tablet per day.

Here Goes

I guess I will go in reverse order in time. That means I start with today. Ayden Jane and I went to visit Dr. Clark. It is about a 2 hour drive so it shoots the day, but Dr. Clark is great. She looked over some labs that had been taken as part of an NIH study. We are a little concerned about Ayden Jane's cholesterol. It is not too high, but with the healthy diet she eats it is hard to understand how it could be elevated at all. I am going to drop one egg yolk from her morning eggs and see what that does. Her IGF 1 level has a bit of room so we are also going to go up to 0.6 gh. Ayden Jane grew like crazy over the past month. It was definitely not my imagination that all her clothes seem to have shrunk. She shot up from the 50th to the 70th percentile in height. That puts her at a bit over 37 5/8 inches and weighing 32 pounds. Those numbers keep her just slightly lean for her height. PERFECT.

We also had horseback riding today. Starting last week Ayden Jane got a new horse to ride. Her name is Zip (although AJ calls her rip). She is much bigger than Mindy was and Ayden Jane LOVES her. I made the mistake of telling her at our appointment this morning that it she would see Zip later... Over and over and over, that is all we talked about for 2 hours home! Anyway, here are some really poor quality pictures to show you how little AJ looks on Zip.

Before we left for endo (remember, reverse time order) we had speech. It was just the second time with her new speech therapist and Ayden Jane loves it. She worked hard and is starting to come up with some sounds I have not heard her make before. She asked for blueberries this evening with supper and instead of the usual 'bu bu bu's' we heard something resembling balooberries. I'd say that's a pretty big jump. Another one is that she is making a sound something like the sh. Up until last week we wore hoos and took hower's. (shoes and showers)

While I was putting in the horse pictures I remembered to check for random pictures taken by Mckenna on my phone. These were taken at Kayla's volleyball tournament.

Say cheese!

Silly face!

This one shows the lovely scar on her chin from the stitches. It doesn't look too great, but as long as she doesn't sit around like this no one ever sees it anyway!

So much more to say, but so many dishes, clothes... to take care of. I will get back on track soon.

Endo Update

Dr. Clark called with the results from Ayden Jane's lab work last week.

IGF-1 Ayden Jane 279 reference 51-303
BP3 Ayden Jane 2.2 reference .8 - 3.0
Creatine Ayden Jane 1.3 normal .9
Carnitine total Ayden Jane 95 Normal 25-69
free Ayden Jane 63 Normal 60

I did not request a B-12 level as I am sure it is quite high due to supplementing...

Although the creatine is a tad high, she is not worried. I guess that means it is close enough. The carnitine is high in total but is fine in free which is apparently the more important one as Dr. Clark feels Ayden Jane is in great shape.

Mom gets a pat on the back for 'seeing' the need to bump the gh the month or so ago. I am glad to have the lab work to back it up though.

Ayden Jane is 29 pounds 6 ounces and is 36 1/4 inches tall and is 33 months.

Supplements: (all doses are divided morning and night)
B12 - methycobalamin 2000-3000 oral daily cyanocobalamin 2000 oral daily
Vitamin - daily multivitamin, but in the process of trying new...
Creatine - 1/4 tsp. daily
Carnitine - 600 mg. daily
Fish Oil + CoQ10 - 2000 daily
Ribose - 1/4 tsp. daily

On Our Way

Well, so far so good. Dr. Clark agreed that bumping Ayden Jane to .5 gh was a good plan. I have an appointment with AJ's pediatrician so we check in on weight and see about getting the iron supplement going. It feels like moving forward which is always a great feeling.

Ayden Jane was doing her usual freezing while swimming today, then she discovered that warm pavement. As she lay there she looked out at the pool and said, "I have a lot of waty (water). That a lot of waty in there." She is pretty sure that the pool was put there just for her to swim in and jump into. Here is a quick picture. I promise more pictures to come!

Lab Results

Dr. Clark called today with the results of Ayden Jane's lab work. In order to put things in perspective, I have to say that in Nov. when we were in Fl. the lab results were a bit high for her gh (IGF -1) level. That is to say she was above the normal range, but Dr. Miller was okay with that because her bp (binding protein) was also elevated. Basically, there was more gh than 'normal' floating around, but there was enough bp to 'mop it up' so she was okay with it. This time her gh is high normal. That is pretty much just what we want. Ayden Jane has had a pretty big growth spurt the last month or two so I guess the numbers in Nov. were just her little body revving up. We have decided to hold tight with the .4 dosage, but Dr. Clark is willing to consider bumping it up a bit before I return and the testing that dosage to decide whether to stay with it. Sounds reasonable to me. I sent all the numbers off to Dr. Miller in Fl to get her opinion as well. I also asked the question of her, "why does Ayden Jane seem to need less gh than most kids with pws?" (her dose is low if done by weight and she is lean) Now I know the standard answer is just that they are all different... I know that, I am just curious if she has any theories as to why they vary so much in their need for gh. I will let you know if she has any good ideas that I can understand.

So, lets just recap where we are with supplements... at nearly 2 1/2.

27 pounds 35 3/8 inches
.4 gh daily
B-12 methylcobalamin liquid 2500 mcg/day split into 3 doses
cyanocobalamin 1500-2000 mcg/day split into 2 doses (breakfast and lunch)
Nordic Naturals fish oil + CoQ10 1 gel cap morning and one at night
Carnitine Fumarate 600 mg split into morning and night doses
Creatine 1/4 tsp. morning and night.
Schiff liquid vitamins 5mls morning and night
Ribose 1/8 tsp. per day (this is new and I am working on the dosage)

Dr. Clark visit

Yesterday I took Ayden Jane to an endocrinology appointment. I used to go to these appointments with questions and concerns and hopes for an increase in gh.... It struck me as a bit odd yesterday when it was sort of just another check-up. Yep, we are low dosed by weight in gh and I am hoping we will go up, but I do not feel like my next breath will depend on that. We talked supplements and concerns, but really nothing has changed in the supplements and my concerns are just things we deal with daily and the sorts of concerns that have no real answers. Like, "what does her future hold...."

Dr. Clark said Ayden Jane looks great and to keep up the good work. We will wait to see the labs come back to decide whether to go up on the gh. At 2 years 5 months Ayden Jane weighs 27 pounds and is 35 3/8 inches tall. She is currently on .4 gh daily. I think she is ready to bump up a bit by the look of her shoulder girdle and the lack of muscle mass there, but I forgot to even show Dr. Clark what I 'see'. Oh well. Eventually I will learn not to stress, but still remember everything.