Greetings all, I hope everyone is having a good summer. I know everyone is curious to know how the 25th annual ULF meeting went so I wanted to post an update and fill everyone in on the things that they missed. This was a big year for the conference as it marked several significant events in the history of the ULF. To remind everyone, we had 2 and half hours on the agenda this year, marking the first ULF conference that Angie and I have attended that had a slot for CTX on the agenda. Past years did have some time devoted to CTX but it was before we became involved. We are very glad to see it back and is another positive event for us since taking up this cause and we want to extend a heartfelt Thank You to Paula and Ron for allowing this time for CTX on the agenda. The conference is jam packed with information making it difficult to juggle the available time between all of the possible topics, 3 days goes faster than one would think. As mentioned above this was also the 25th annual conference for the ULF, a huge accomplishment and a significant number in many aspects of life. Last, but not least, the Brazeals also celebrated their 40th anniversary on the 27th of July. For a couple to stay married that long in this day and age is remarkable especially in light of everything that they’ve been through in their life. I think this shows the dedication that they have to each other and that it carries over into how they live their lives. They are two very special individuals.
This year marked a sad occasion in that it was the first ULF meeting since the passing of Dr. Hugo Moser. His work in ALD research contributed to many aspects of Leukodystrophy and we know that his wife Ann will continue his work in his abscence and that his legacy will live on. In that we can celebrate his accomplishments and what is still to come as a result of his work. The lunchtime memorial in his memory was very special. During the memorial service, an announcement was made that the ULF was able to meet the challenge grant put forth by the Moser’s at least years conference of raising $165,000 that was subsequently matched by the Mosers. This will herald a new era of the ULF in that it will now be able to provide grant money to researchers in the area of Leukodystrophy!
I also want to thank the Thomas family, the Bettag Family, and the Laurie family for making the trip to the conference, I know it is costly for some and takes time away from your family. The continued show of support is important and will remain an integral part of our efforts in keeping CTX on the radar of the FDA, the pharmaceutical companies, and the current and new Doctors who will continue work in the treatment, and research of CTX.
It was great to see everyone again, the friends and familiar faces that we got to know last year. It was nice to also meet the first timers and great to see that a few of the undiagnosed families got a diagnosis or were told that it wasn’t a Leukodystrohpy. This is evidence of how beneficial the second opinion program at the conference is.
The trip this year wasn’t all about the conference, we took Ashley and Jacob with us this year and spent two days at Six Flags Great America in Gurnee, Illinois. It was a lot of fun and was great having both the theme park and the water park right next to each other. This allowed us to walk between parks, going to the water park when we got too hot to cool off. This was the first time the kids had gone on any really big coasters aside from California Screaming which is at the California Adventure park at Disneyland. They both conquered their fears and once they got going, they couldn’t be stopped, they were coaster riding machines! The only problem is that now they’ll want to come to every conference 🙂 We all had a lot of fun and look forward to being able to go to another theme park soon.
Now on to the CTX part of the conference. We had return visits by Dr. Gerald Salen, Dr. Shailesh Patel, Jim Bona from the FDA, and Dr.Vladimir Berginer from Israel. Dr. Salen’s presentation focused on the genetic and biochemical aspects of the disease. Dr. Patel’s presentation focused on research, he brought with him a researcher that he works with which is encouraging to know that even newer Doctors are interested in continued work in this area. Dr. Berginer presented stories of the families that he’s been treating in Israel and how well they are doing on CDCA. Jim spoke of the hard work he’s done in the last year working with the ULF and other organizations to get a manufacturer in place for CDCA. All of the presentations were great and highlighted how critical the continued supply of CDCA is to CTX patients.
We also had a couple of new speakers, Kimberlee Matalon from the University of Houston, who spoke about the dietary aspects of CTX treatment, Maria Hardin from NORD(National Organization of Rare Diseases) who spoke about NORD and the programs that they have in place to make available medications for patients with rare diseases, and Dr. Andrea Debarber from OHSU(Oregon Health Sciences University) who presented her findings in developing a newborn screening test for CTX. Also present were two representatives Jamie and Holly from Sigma Tau, the pharmaceutical company who expressed interest in manufacturing CDCA beyond 2007 now that Falk Pharma has ceased production.
There was a very brief statement from Jamie who told the audience that Sigma Tau will be assuming manufacturing and they will ensure that it will be affordable to everyone. This statement is the reason that we’ve been working for the last year on this and is the reward for everything that’s been done so far. It is because of the efforts of the ULF, the FDA, NORD, and Sigma Tau that this is all happening.
Unfortunately the forum ran over time and we didn’t have any opportunity for Q&A. I will be contacting the Sigma Tau representatives over the next couple of weeks to gather any information about their time frame and update the site with whatever information is available for public consumption. I also plan to address with them the prospect of making the medication available internationally as CTX patients worldwide will be facing the issue of not having a treatment available.
One more thing, as we move forward with research, particularly in newborn screening, it will be essential that the researchers have access to the newborn blood spots of CTX patients. I am making a very special request of everyone to please contact the newborn screening programs in the State in which the affected individual was born to see if this blood spot is available to submit for research. This can most easily be done if the request is submitted through the patients Doctor. It should be a simple matter of writing a letter or an e-mail indicating the reason that the blood spot is needed and they should release it. Also, there is interest in access to blood that was taken before CDCA therapy was started which is helpful for establishing a baseline blood chemistry of a CTX individual. Will everyone please also check with the Doctors providing care to see if such samples might be available. If so, please contact me so that I can speak to the researchers to discuss a protocol for getting these blood spots and samples to them for research.
I want to remind everyone about the Mystery Diagnosis episide airing on August 13th. To make sure you don’t miss it, you can go here and setup an e-mail reminder.
I want to point out the link to the IGive.com site that I added to the left side of the page. This is a good way that anyone can donate to the ULF simply by shopping online. When you shop through IGive.com, a portion of the purchase is donated to the charity of your choice, the ULF being one of them. They have over 680 online stores which support donating. I would encourage everyone to tell your friends and family about them and show continued support of the ULF.
Lastly I want to thank the ULF staff and volunteers who dedicate themselves year after year to this cause and conduct an event that is informative and fun at the same time.