PWS Awareness Month Top Ten - Part 1

May is Prader-Willi Awareness month. I struggle a lot with this. On one hand, PWS is a crazy exhausting, syndrome to manage which seems more like wrestling a constant moving target with no way to know what "joy" is coming our way next; and on the other hand, Ayden Jane is pulling of quirky typical kid to most people.  I get frustrated at the chronic nature of the genetic syndrome and wish Ayden Jane could spend her days with her biggest worry being if the waves are good.

When Ayden Jane was diagnosed 10 years ago we were given the sage advice of the day. Otherwise known as the list of all the things Ayden Jane would never be able to do and the ways she would struggle/suffer.

I think this year for PWS Awareness Month I will make a sort of top 10 list of things that were predicted and nearly guaranteed and where we are with them now.

Number 1 - Scoliosis

I don't say number one as in this is the number one challenge, I am just putting it out there first because the wonderful horse barn that has loved on Ayden Jane since she was an 18 pound 18 month old riding a sweet little horse all the way until now!

Scoliosis is very common in PWS. Absolutely not a guarantee, but definitely something that has to be monitored and addressed as needed. For Ayden Jane a 24 degree curve seemed to pop out of no where when she was approaching 5 years old. We were given a few months to see what we could do with PT etc and the appointment was made to consider serial casting. Lots of PT and swimming and hippo-therapy and running and.... her curve gradually reduced until it was just minimally monitored.

Fast forward to this March. Poof. Curve jumped up again and we started night bracing and we are ramping up the running etc. It is extremely uncommon for a curve to be reduced at this age and the goal is simply to keep it from increasing and avoid surgery. Of course, Ayden Jane says don't worry she will have it back under 20 by the time we head back for our next check in September. That's how she rolls!!

Scoliosis

A few days ago we headed to Shriner's for a back check. We have been doing this for years and up until this trip Ayden Jane has mostly received good news. Her streak of strong and straight came to an end.

She did her thing with standing in the cool x-ray machine they have. It scans from the top down and the image comes up on the screen where I can see it. My heart dropped. What was once a slight curve was now a very obvious curve. I did my best not to panic Ayden Jane, saying it looked bigger but we will see what the Dr. says.

Doc came in and as I looked at the x-ray and heard the numbers. In the past 4 months her curve has gone from 11 to 26 degrees. The doctor continued to outline options and future. Night bracing. Daytime bracing. Surgery... I was trying to focus. All the while Ayden Jane was whispering in my ear. We will work hard. We can fix it. We did it before.... I put my hand on her leg and quietly told her we need to listen to the doctor right now. "Okay mom, but have FAITH. We will have everyone pray and Jesus will tell us what to do. He always does. He is faithful to take care of us. I'll just surprise the doctors again."

Now I'm not going to pretend that as she was picking out patterns and being measured for the brace that the reality of what's coming didn't bring forth a few tears. It was a roller coaster of a couple days, wavering from very worried she will be able to sleep in the brace to determined to straighten her spine so fast she won't even need it.

In the end, she is ready to fight. New running shoes were purchased and day one of running already accomplished. Contact was made to the amazing Mrs. Jen, her PT of old that helped her conquer a 23 degree curve at age 4/5. Lots of people praying that we will know just what to do and that Ayden Jane will have the strength and determination to do it. We return to pick up the night brace in 4 weeks.

In the end this song is what she is running to and the life she lives.

Confidence

Shriners Visit

As a quick review of Ayden Jane's 'history' of scoliosis, she was x-rayed at 3 and there was no sign of scoliosis.  When she turned 4 we did not even check her because she was still so active and there was nothing that looked fishy.  Jen, our PT, is great with checking these things and our doctors did visual checks.  Then the 'winter of infection' came.  While she was sick that winter her tone turned to mush.  By the end of last summer we saw some outward signs that things were not quite right and we knew it was time to get a look at things anyway.  No only were some things not quite right with her back, but she was internally rotating her right hip and her knee.  So, her second x-rays for scoliosis were done and revealed a 23 degree curve.  Yikes!

We talked to some folks and decided to hit the experts at Shriner's in Philadelphia.  We were told via phone that 25 degrees was the point were intervention was required.  Now, this could be bracing or casting, but we were not excited about the thought of either.  We made the appointment, got Ayden Jane back into some new orthotics and went to work via PT.  Jen even had us use a knee brace to keep the leg in a better position and help AJ remember to sit correctly.  November we had her third set of x-rays and her curve was reduced to 12-13 degrees.  This cleared us from having to worry about casting ect. but Dr. VanBosse wanted us to be checked again in 6 months.  He was comfortable with transferring us to Shriner's Greenville.

Yesterday we made the trip and had Ayden Jane's 4th set of scoliosis x-rays.  I was really hoping for a further reduction in the curve, but am relieved that her curve is at least stable.  It was still 12 - 13 degrees.  Even better is that he feels that with her age it will likely remain stable and we only need to check in with him once a year.  (unless we see anything of concern)

We were hoping to see some friends while we were there and head to the zoo together, but alas little E started up with  a fever.  We still hit the zoo and the great little playground right next to it.  Ayden Jane loved the baby giraffe and was amazed at the size of the elephants.  I was amazed that after sleeping in a hotel, hours at the hospital, nearly 3 hours of walking at the zoo and playground time Ayden Jane did not even sleep on the way home!!!  She talked for 4 1/2 consecutive hours.  Gary and I took turns pretending to listen and there were times where she was just narrating the puzzle she was doing or 'reading' a book.  Sometimes I really wished this kid watched movies!

Shriner's itself was great and made me think of Kayla a little bit.  She is looking to go to Medical School and thus needs to do an internship.  What a great place that would be.  She attends Clemson which is nearby so she just might check it out.  Who knows...

Philadelphia

What a trip!  Gary and I left around 1 pm on Wed. and headed north.  We knew we would get in late, but decided that getting the whole trip over was a great idea and we hoped that Ayden Jane would fall asleep and make the last few hours relatively painless.  We received most of what we hoped for.

Ayden Jane has not traveled a lot lately.  We did not even make it out of South Carolina before she was asking how much longer...  She eventually got in her groove playing with toys in the back and we were truly on our way.  The only challenge we faced was whenever we stopped, Ayden Jane wanted to get something to eat.  Now, we could turn that statement into a big PWS thing, but honestly, I think it was more about wanting to get to pick something and break a bit of road weary.  In fact, I know that all my kids loved getting some sort of treat from the gas station at this age!  Our solution?  Gum.  She went through a lot of it:)

We discovered that Ayden Jane does not go to bed well in a car!  She managed to stay up until about 10:30 in the car and let's just say that Gary and I did not find her last waking hour cute or amusing.  We did finally arrive at the hotel and she was WIRED!  Thankfully she did finally sleep and slept well.

We went up a day early because we knew that AJ needed to wiggle before heading back south.  We decided to go to the Please Touch Museum ( http://www.pleasetouchmuseum.org/ ).  It was AWESOME.  Ayden Jane played there for over 4 hours! She was at about the perfect age for it.  That night we walked about 15 blocks or so to Macy's and walked in just in time for a Christmas light show.  We saw the Christmas windows along the street... It was great.  AJ managed to walk back all but the last 5 blocks.  I think she likes the city.

Friday was Shriner's time.  They were awesome.  We found it, checked in and went from station to station.  Ayden Jane was great and, of course, has a new fan club.  The amazing thing is that when they took her x-ray, her curve has been cut in HALF!  It is now 12.5 degrees! Yep, we were on the edge of the cliff heading for casts or braces... and now we just have orders to keep up the great work and monitor her curve every 6 months!  What a difference 2 months can make.  He thought her orthotics were appropriate and agreed AJ definitely needs to stay in them.  He checked the internally rotating leg and said he also recommended that we stick with strengthening it and all the other things we are doing.

So a great trip with lots of keep up the great work from the Doc.  In a way it seems that it would be frustrating to go all that way for a pat on the back, but just knowing that we are totally in the system and that Dr. V will follow AJ through check up at Shriners in Greenville SC is worth it!  If things were to suddenly go bad for us, he will guide her care and will have followed her a good long while.  Worth every penny (and mile).

(I will work on getting some pictures up soon.)

Dr. V and Scoliosis

I have been round and round in my head about what to do with Ayden Jane and the scoliosis.  I was almost able to talk myself out of making the grueling trip to Philadelphia to see Dr. VanBosse because, well it's a grueling trip and AJ looks good on the outside.

After listening to Dr. V. at the conference, however, I know I want to take AJ to him.  He was very convincing in his knowledge of PWS.  Imagine, not having to feel the concern of whether or not the decisions made are the best way to treat a child with PWS.  Ayden Jane looks and acts nearly completely like a typical child so I think sometimes I must sound like a crazy person reminding them that she really is different on the inside.

He brought up several other common concerns in people with PWS.  Ayden Jane will get the complete once over and we will be able to determine a treatment plan for the scoliosis with all the best info.  Basically, her curve was measured at 23 degrees in Sept.  If it has progressed at ALL we will be looking at some sort of intervention.  It could be in the form of a brace or a cast.  Either way, we will have a plan and be moving forward.

As for the trip, we decided we will drive up (12 hrs) on Wed. and take Thurs. to play.  Thinking we may check out the zoo or the Please Touch Museum depending on the weather.  I just feel like AJ will need a day to wiggle so she can do her best on Friday.  Our appointment is at 9:15 but we were told to be prepared to be there all day.  Since we are checking on AJ's orthotics, have questions about her right leg and it's desire to internally rotate plus the scoliosis... I want AJ to be ready.  Then we will just head back and drive into the night Friday night.  At least that way AJ will hopefully sleep and not talk for 12 consecutive hours!

Scoliosis

Ayden Jane was screened for scoliosis at age 3.  All looked great.  We did not x-ray her at age 4 and I would guess that she was still okay.  Last winter took such a toll on her and she seems left unable to use gh as effectively (as determined by the need to lower her gh dose by 0.2 to keep IGF-1 levels in check).  Her tone is not as good as it once was.  Not saying it is bad for PWS, but it is not great.  We saw a big change in her posture by late summer.  Although her Endo, Ped. and PT could not see any outward sign of a curve when they checked her back, I just wanted an x-ray anyway.  Turns out that 'something is just off' Momma intuition was right.  Sometimes I really wish I was wrong.

Ayden Jane has a 23 degree curve according to the x-rays at our local hospital.  Now, I will add that she was less than cooperative as it took a while and she just does not stand still very well.  I have no idea how much those things play into the results.

So, what do I do next is the question.  I contacted Dr. van Bosse in Philadelphia as I just do not have the time or energy to try to find someone here with the expertise or open mind that I need.  He is treating a lot of patients with PWS so I just want to go where I know she will get great PWS/scoliosis care.  He is taking her on, but I haven't heard yet from the folks that start the ball rolling so to speak so I don't know how long it will be until I get her there or what hoops I have to jump through.

He did say that a 23 degree curve is in the 'observation' phase.  If it were to increase a few degrees it would be considered to require intervention.  Since I feel like 2-3 degrees has got to be within the margin of error I really want to get up there!

Okay, so that was the nuts and bolts.  How am I taking it?  Not great.  I think about where she was 1 year ago and how she is doing today and I just feel like I am losing the battle.  Her tone is less, she has added weight, she is sick again (UGGG), she has and obviously needs glasses, we have had a few behavior issues (likely related to being sick though), we had to reduce gh because her body just does not metabolize it as well as it did.... I think we need to begin to cut back on food because with the reduced gh she just does not burn as many calories.  So frustrating.  Just wish I could figure out how to get her back to where she was.