the start of our journey
a few of the members along with co-founders Ron & Raychel
It is not necessarily the easiest thing to do. Deciding to take part in a drug- trial is serious business. It is exciting because when Sam was diagnosed there really was nothing going on. AND I mean NOTHING. Yes there were a few people working on cloning the gene. That means that they didnt’ even have a way to confirm a diagnosis through blood work. Sam had to go through some pretty painful testing to have a diagnosis that was given based on clinical measurements. A year later the gene was cloned and that was a big step for many reasons. It meant that people could forgo the painful testing and the research could just go on in a more precise manner, and that is exactly what it has done.
With the help of a wonderful group-FARA- research has just taken off. What is equally as important is that fundraising and awareness have also taken off. It seems like in the last ten years things just keep moving along in a positive way.
Paul brings such expertise along with incredible passion to the board.
Tom & Jen hard at work
So this brings us to our journey this week. Sam has been brave enough to sign up on the FARA patient registry site and has also been lucky enough to have been called upon to take part in a clinical study for a drug. Since I am really worried about the sensitivity of the whole thing I don’t want to say anymore. But as in everything else in our journey together this has been a wonderful trip!
We have been able to take time to talk and laugh and meet all kinds of great people. The worst part-leaving Alex.
my other hero
We are so used to being the three musketeers it seems so unnatural to split up. But it would have meant finding one more person to come along and we just didn’t have a lot of time to pull it all together. So she will enjoy some relaxing time away from us.
ok so I did most of the talking 
We took the train so we didn’t have to worry about driving. We enjoy taking the train as it gives us time to slow down and meet people. We met this great young man who was getting deployed to Korea, he is with the Army and he was really sweet. What was so very moving was that people would just walk up to him, shake his hand and say “Thank you”. I am embarrassed to say I never do that, but that I will do it now. What a wonderful way to show respect and gratitude to these brave men and women who serve our country! I cried and Sam was embarrassed. But he was a dedicated and kind man we really enjoyed our time with him.
We got to Philadelphia and had a great walk up to our hotel. We stay at the same hotel when we come so by now everyone knows us and it is a very friendly encounter. We window shopped and talked and interacted with people on the way. We had this GREAT dinner together at a Mexican Restaurant. We started first for another Mexican restaurant that was recommended but after the long walk we found that it was not wheelchair accessible, but worse was that when I went in to try to cheerfully request help getting Sam up the stairs I was met with blank stares and a flat “no”. Oh well their loss because it came to me than that there was this other Mexican Restaurant closer to the hotel. We found our way over and got to sit outside, it was beautiful weather in Philadelphia and the food was great!
Sam and our waiter Brian
We had a charming and funny waiter, Brian. He and Sam had a great time bantering back and forth. We had a wonderful meal and walked around the city some more before we crashed back in our room for the night.
The next morning we got up early and eagerly made our way to the hospital. It really is odd to say but we love coming to CHOP. The team “our team” is made up of the most amazing and well qualified people …ok I am going to say it …..IN THE WORLD!
The BEST neurologist in the world!
Dave, Erin, Lisa and now Baali…………. are just AMAZING. They are the best of the best and then they treat you like a human being on top of it! Something just doesn’t seem right about that! Just kidding! We love to go because we know we are getting the best care around, we truly enjoy their company and we feel like we are on the right track! So we got there and saw our “team” and the table turned for Sam for the trial. Without saying too much half way through the morning it became apparent that this was not the drug trial for Sam. My heart broke for her only because her concern was she was letting “the team” down. But what she doesn’t know is that she is still our hero! What is important is that she stepped up to the plate. The fact that so many of our kids and patient population step up to volunteer is what matters. The rest is up to the investigators, criteria and yes maybe even a little ……..fate! So our journey took us to an early trip back home but not to the end of the journey. Because as we all know the journey continues……………….and through it all Sam remains my hero
So if you are willing and able give her a little “shout out”! She deserves the acknowledgment!
With love and dedication to my girls and all those who volunteer their time for these trials.
Always
Mary
4:40 pm on June 23rd, 2009
A BIG Shout out to Sam. Good luck with your ESPN opportunity. They better hire you!
7:31 am on July 6th, 2009
Way to go Sam and Mary! I know how you feel and I totally agree about the recent research and the team that’s helping us all. And I know your disappointment was not because you wouldn’t personally benefit from the trial but that you wouldn’t be able to help us all. Linda’s entering the trial and goes to CHOP in a couple of weeks for her interview. People say things like “I hope you get the real drug and not the placebo” but in our view it really doesn’t matter – it’s not a personal thing – we’re doing it for all of us. I know she will be disappointed if she doesn’t make the cut, for the same reasons as you, but this progress is great anyway!
And you should let us know what that restaurant is you found – we’ll check it out.