Monday, March 28, 2011

San Diego

Although it's not on my Bucket List, it's definitely at the top of Eric's:

We spent the weekend in San Diego and one of our stops was LegoLand.  Eric thought he'd died and gone to heaven!  Eric thoroughly enjoyed the day, but Jack wasn't quite as thrilled. There wasn't a single wheelchair accessible ride, so there was little Jack could do.  Jack toughed it out though and tolerated the eight hours in his wheelchair and in the sun very well. Thankfully, the park closed at 5pm!

The other reason we went to San Diego was to attend a Cure CMD Information Day.   I was mostly interested in having Jack see one of the doctors who was presenting at the event.  He is one of the top neuromuscular doctors/researchers in the country - if not the world.  He specializes in congenital muscular dystrophies and has worked at Children's Hospital of Boston and Children's Hospital of Philadelphia and is now at the NIH.  Anne Rutkowski, the founder of Cure CMD asked me if I would be interested in having Jack participate in a study being conducted by Dr. B at the NIH to try and determine the subtype of Jack's CMD.   Although I'm not that interested in knowing the exact genetic subtype of Jack's CMD, I know it's important to Cure CMD's mission and because I like and respect Anne, I want to do what I can to help.  Because it's not an option to take Jack to the NIH, when I saw that Dr. B was going to be at the conference, it gave us an excuse to go to San Diego for the weekend.  After a day of seeing patients in clinic, Dr. B and Anne came by the hotel and sat down with us to talk about Jack's history and to see Jack.  We hung out in the hotel lobby and had a drink together.  Dr. B made it clear that he doesn't usually conduct a consultation while drinking a beer! :)  At this point, I need to get Jack's brain MRI taken back in 1999 sent to the NIH and see if I can get Jack tested for a specific genetic subtype that he hasn't been tested for next time we are in St. Louis.  The conference itself was very interesting and informative. It was geared more towards medical professionals, but I could keep up for the most part.

It was a busy few days, but lots of fun.  Traveling is so hard on Jack because of the time he has to spend in his chair and on his back-up vent (without humidity). He was definitely exhausted at the end of each day, but he is such a trooper. I wish he could enjoy the things that we do, but to be honest, he is happiest at home in his own room and his own bed.  It makes me sad, but it is what it is.

Anne, Jack and me at dinner together

Back to the grind tomorrow.  Spring Break is officially over and the kids are back to school tomorrow too. (Eric is not happy!)


Susan said...

How fun for Eric. Great job combining the medical business with fun. I love the idea of sharing a beer at a consultation. Maybe all our doctor/parent relationships would improve some, eh? My adoptive brother, dad and well actually most of his siblings had myotonic muscular dystrophy. If your doctor wants research subjects let me know via e-mail and I'll talk to my brother.

Anonymous said...

Jack is pretty awesome. That Legoland looks pretty cool.

CS said...

What do you mean, "It was geared more towards medical professionals, but I could keep up for the most part,"?!! You ARE a medical professional. ;p I'm really interested in the NIH study and Jack being a part of it. Can you share info as you get it?

Jack's just a homebody. He knows a good place when he sees it and there's no place like home (and being around your stuff while being comfortable).

I'm glad you had a good weekend and I had no clue LEGOLand existed. We just entered into the LEGO world and whoa.