I shed happy tears today.
I was watching some of the speakers from the National Gaucher Foundation Conference that was put online from the Gaucher Disease conference a couple of weeks ago. I would have loved to have been able to go, but there was just no way. Fortunately, Josephine’s dad was able to go and kept me constantly updated (thanks, Ed!)
Dr. Neal Weinreb
One of the speakers, Dr. Weinreb, did a presentation on the Gaucher Disease registry. It is a very important research tool for Gaucher Disease. He is also, what I consider, Hannah’s guardian angel. I have never met the man (hope to in February out here!), but he has been my lifeline since learning that GD was even a possibility for Hannah. He has always been able to break things down in more layman’s terms for me, and he has let me bounce ideas and vent my frustrations. Just a wonderful, wonderful person.
Anyway, it was an incredible surprise to see that Dr. Weinreb featured Hannah in his presentation! If you go to minute 31-ish, you will see his discussion on her, her GD, and how Hannah should remind researchers that kids like her (GD2 and GD3) are to be considered a “celebration of life” and not to be written off. Click here for his presentation.
It just made me realize that Hannah really has made an impact in the world of Gaucher Disease research, so much so that I need to step up my game in 2011!
Another very important video I encourage others to watch is the one regarding GD2 and GD3 by Dr. Raphael Schiffmann. We had met him a few times, and he is another wonderful doctor and researcher. The last 7 minutes or so are incredibly moving including Josephine’s dad’s plea to researchers not to forget about the nGD kids and with Dr. Grabowski’s startling demographics regarding nGD on the other side of the world.
You know, every single one of the Gaucher specialists that I have met so far on this journey (Sidransky, Goker-Alpan, Lopez, Schiffmann, etc.) have been fantastic, passionate, and just caring people.
Click here for all the videos from the conference. I hope to make it in 2011!
That’s so interesting … I learned a lot by hearing some of this verbalized and knowing some of the things you’ve shared. I am even more impressed with the work that you’ve done in spreading the word about the registry. I also was very happy to hear him speak of how we need to recognize these children as celebrations of life. Sweet Hannah is a pure celebration of life and a reminder of love.
I don’t know if your thought pattern is anything like mine, but his slip of the tongue regarding her age in years instead of months seems kismet to me. Hopeful. Is that crazy?
Have a great holiday week and thanks for sharing this information.