Friday, August 31, 2012

A Boston Tale - Part 4

It's hard to believe that a couple weeks ago we were wrapping up all of Peyton's doctor appointments in Boston!  It seemed like that week went by slowly, but the weeks since we've been home have absolutely flown by!  It's been a while since I posted about our trip.  I never did finish!  So here's a little more about our trip.  If you missed the previous posts, you can read them here:

part 1, part 2, part 3

During the week, we spent a little bit of time driving around the city.  It really is an amazing city.  I love the architecture. It's just too bad that we didn't get much time to really take it all in.  All my pictures were taken from a moving vehicle, through a rolled up window!

I have to say, driving around Boston is tricky business.  It thoroughly confused our Garmin.  One wrong move and you wind up heading through a tunnel into the wrong part of town, paying more tolls than you bargained for!  It was more stressful than we needed, so we limited our driving around.  I'm glad I was able to see what we did see, but I'd love to go back someday when we actually are able to take advantage of the opportunity as an actual vacation.

Mid-week found us with a couple appointments that were made for Peyton while we were there, not prior to going up there.  We saw a second pulmonologist who specializes in sleep disorders.  We have a lot of questions regarding Peyton's sleep apnea and use of her bi-pap.  He really was able to give us a lot of information and had several suggestions on what we can try to do to help her out.  We are not really having a lot of luck keeping her on bi-pap at night, so we were asking about the possibility of using some sort of sedative to help out.  

On the 17th, we wrapped up our trip to Boston with a visit to a neurologist and geneticist.  Once again, these appointments were made simply because we were going to be up there - they weren't the main purpose for our trip.  The neurologist was wonderful.  She had a lot of information where Peyton's pain management was concerned.

I think the best appointment of the week, however, wound up being the last one - with the geneticist.  Peyton has been seeing one since she was born.  She started out with Texas Children's Hospital, which is an incredible institution, particularly in genetics.  We moved to Charleston, SC in 2008, where Peyton sees doctors at the Medical University of South Carolina {MUSC}.  We see a geneticist there.  That is about all I have to say about that.  That said, it was a great idea to book this appointment while in Boston.  It was a last minute addition before we went up - and am I ever glad we did it!

The doctor we saw spent almost three hours with us.  He took a very detailed history.  He examined her.  He looked over some of the records which I'd brought up with me.  In the end, it turned out that there is a research study on a particular genetics test.  He needs to present Peyton's case to a committee, but he is trying to get Peyton into this study.  This would be the most detailed/complex testing done on her to date.  Note, she has had tests for over 6 years and we still do not have a diagnosis.  It has been felt for most of her life that whatever she has is exceedingly rare but could also be a combination of rare disorders, making it even more difficult to determine a diagnosis.

We drove home over the weekend of the 18th/19th.  On Sunday, we got a call from the geneticist.  He'd been plugging her information into a database and he stumbled onto a potential diagnosis.  We had emails from him after we returned home.  There were a series of tests which he wanted to be done on Peyton to test for this specific disorder.  IF she has this disorder, it's one that affects only about 1 in 500,000.  We've been down this road before - thinking it could be something, then having it turn out to not be that "something".  It's still a shot in the dark.

We actually met with the geneticist at MUSC yesterday.  That visit made me extremely thankful for our decision to see a geneticist in Boston.  Oh.  My.  Goodness.  The fact that in his records he had that Peyton was adopted and there is no family history available blew my mind.  A year ago, genetics counseling was recommended by a lab to him, as well as testing of the parents.  This was never mentioned to us - probably because he thought there was no reason since he thought Peyton was adopted.  For the record...Peyton is OURS.  She is our natural child.  Unbelievable.


I will leave you with some images of the lobby at Children's Hospital Boston.  One of our most favorite things in the lobby was the kinetic sculpture called "Bippity Boppity Balls".  You can read a little bit about it here.  It's this really cool metal track that these little balls race down.  At various points in the track, the ball can actually go in one direction or another.  It can bounce down steps, fly down a track through a loop de loop, drop onto a platform and bounce up into a basket, or drop into a bowl where it circles around until it drops into another section of the track.  I could have spent hours watching it.

Below are a couple videos featuring "Bippity Boppity Balls" at Children's Hospital Boston.  The first one is pretty short.  The second one is set to music.  I'm not sure what's up with that song, but it's a good video featuring the sculpture.

And then there's the musical stairs!!  We loved these.  There are sensors on that orange wall.  As you step down, it senses you and it plays a note, so as you go up or down the stairs it plays a little tune!  I found this video on youtube.

We had a very successful week at Children's Hospital Boston.  We have been in touch with the geneticist several times since we came home.  He has spoken with Peyton's pediatrician and has emailed the geneticist here.  Overall I would say that we didn't walk away with any answers, but we came away with a lot of suggestions and recommendations for Peyton.  I also believe that this new geneticist is working very hard on trying to help us find a diagnosis for our little girl.  While it was a difficult journey to undertake, it was one that was definitely worthwhile.

At the end of the day, we can now sit back and say that we have done everything for her that we could.

No comments:

Post a Comment

I love hearing from you! I welcome your comments.