I hope everyone was able to catch the first airing of the Mystery Diagnosis episode. It turned out very well and despite a couple of facts not being quite right and the narrator mispronouncing Dr. Anadiotis’ last name it was as usual, very well put together and told the story well and maintained the impact that we had envisioned. We received an e-mail from an individual at a compounding pharmacy in Washington State offering their services the day after the first airing. This lets us know that people are watching the show and that it is making an impact. We appreciated their reaching out, however we are nearing final discussions of the medication issue and hopefully won’t need their help. We hope that today’s airing and subsequent airings only contribute to the awareness and exposure that this disorder so desperately needs.

Another bit of news, I recently received a phone call from a woman in Oregon who’s son has or soon will be diagnosed with CTX. We are saddened that this happened but also happy to see newly diagnosed cases and one in our home State as well. It happens that she stayed at OHSU the week prior to Ashley’s stay there and that the team of Doctors who observe Ashley are the same team who are diagnosing her son. I presume we will have numerous conversations in the future.

Also a reminder that the second airing of the show happens tonight at 6:00 p.m.

Until the next update…

August 2nd, 2007

The air date for the CTX Mystery Diagnosis episode has changed from August 13th and they have added 2 additional dates and times:

• Monday, August 27th 10:00 p.m.
• Tuesday, August 28th 1:00 a.m.
• Sunday, September 2nd 6:00 p.m.

Remember you can set and e-mail reminder by going here.

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.

I just wanted to say what a great time we had on the cruise. Ashley had an especially good time, she was able to go and do with her friends that she met on the boat, they had two teen clubs for her and even opened the adult club to the kids for one alcohol free night. Jacob was in heaven, they had a great kids pool and an arcade that in size rivals arcades I’ve seen in shopping malls. They are were asking when we are going on another cruise on the plane ride home. I was very reluctant in the beginning about the whole cruise thing but I can say that I am now hooked. Not once did I feel like I was couped up or claustrophobic. The boat was so big and had so many things going on it that you would never know that you were one of 3600 passengers and 1200+ crew on board the boat. It is truly an engineering marvel.

I want to say thanks to the Make-A-Wish foundation and to Royal Caribbean. Without their generosity many families would not be able to participate in such great experiences. The treatment by all the staff and crew was first class all the way, the food was amazing, it was an awesome experience. The Make-A-Wish foundation sent a limousine to pick us up from the airport and to take us home. We were also given privilege boarding and were able to board first on the plane which was nice. We also were given a VIP package by Royal Caribbean that consisted of some nice RC trinkets and gear, a bottle of champagne waiting for us in the room and several activities scheduled by the Adventure Ocean coordinator that very few people get the opportunity to do.

Our favorite was the VIP time on the FlowRider, the surfing machine that’s on the boat. We had nearly an hour just with our family and it was a lot of fun. I have put up a photo album of pictures that we took during the cruise, you can get to it by clicking here.

Life is back to normal for a short time before we leave for Illinois for the annual ULF meeting. We are excited to see a special time slot just for CTX this year and look forward to everything that we will learn. By now most of the individuals in our small CTX community should have received the letter that we sent out stressing the importance of attending this years conference and it’s role in making sure that we continue to have access to CDCA.

I also wanted to remind everyone to please fill out and return the patient surveys that the ULF sent out several months ago. These surveys provide key information to the pharmaceutical manufacturers and play a role in the overall cost of the medication to the patients and families. These surveys are VERY IMPORTANT. Please fill them out and return them to the ULF ASAP!

That’s all for now.

A few bits of news…

The first item I would like to report is that Monica from True Entertainment, the studio who produces the Mystery Diagnosis show has revealed that the episode that we did for CTX will be airing on Monday, August 13th. We’re anxious to see how it turns out and need to prepare ourselves for seeing ourselves on a show that we’ve been fans of for so long 🙂

Second, Angie and I just returned from our second ULF board meeting and feel that it went really good. This looks to be a good year for the organization and we are happy to report that the organization is on track to meet the fundraising goal that was set by the $160,000 challenge grant. This will give the ULF more opportunity to provide research grants to scientists who are researching Leukodystrophy’s and continue the support for the Leukodstrophies that the ULF is known for. Planning continues for the 25th annual ULF Scientific Symposium and Family Conference. There will be several special events at the conference this year and I am looking forward to it and can’t wait to see everyone again.

We leave on Saturday for the Make-A-Wish cruise aboard the Freedom Of The Seas ship from the Royal Carribean cruise line. We are departing from Miami and have stops in Cozumel, Mexico, Labadee, Hait, Ochos Rios, Jamaica, and Georgetown, Grand Cayman. We have several excursions booked including swimming with the Stingrays, swimming with the Dolphins, and Para Sailing. It should be a great time. That’s all for now, I’ll post an update after we get back from the cruise.

It’s a wrap…

After 3 very long days and multiple locations, the Mystery Diagnosis segment has finished shooting. It was a great, but tiring experience. I learned a lot about the whole process and was amazed at what they can pull off. I honestly didn’t know what to expect but had expected a large crew to show up and descend on us but it turned out to be the opposite. We had the first day in a studio for the interview portion. Those familiar with the show know that the segment is peppered with dialog from family members and physician’s that’s shot in front of a colored background. For that portion, myself, Angie, her father, Dr. Bock, and Dr. Anadiotis were featured. That went from 10 a.m. until about 6:15 p.m. Saturday.

Sunday we spent several hours at Dr. Bock’s office and the rest of the day was spent at our house until 8:30. The remaining scenes were filmed at various locations around Legacy Emanuel Hospital, including the Emergency Room, the Pediatric ward, and Dr. Anadiotis’s office starting at 8 a.m. and finishing a little after 7 p.m. The studio portion had the support of some individuals from the local studio along with the three individuals from True Entertainment, the studio who films Mystery Diagnosis – Monica, the producer, Nakia, the Associate Producer, and Adam the camera guy, who has actually filmed all episodes of the show and is the one who came up with the overall look of the show. All 3 are extremely hard working, talented individuals and we are extremely grateful to them for doing what they do. They had arrived after doing a 3 day shoot in Seattle and kept up a frenetic pace during their visit with us. I was worn out with just our portion of the shoot, let alone having 3 similar days just before it, WHEW!

I learned that it takes quite a bit of setup just to get a 30 second shot and even moving at the breakneck pace that they were moving, it still takes a long time to get the shot you want. We had to recruit two different girls to play a young Ashley who both did a great job but at times proved to be a bit challenging to get the shot. Adam does a superb job at making adjustments and shooting to make it convincing, he’s truely an expert at what he does. I hope the show goes a long way to getting our message out and prevents more individuals from getting an unnecessarily delayed diagnosis and provides the exposure that is so sorely lacking with CTX.

Our shoot was the last episode of the season. It’s now back to NYC for the crew to put the finishing touches on the editing and to add the pieces that make it a segment worthy of airtime. I would expect to see an airdate within the next 3 months. We are not allowed to see it before it airs so it will be as fresh to us as it is to everyone who sees it on the program. I will make a short post when we get the air date from Monica so that everyone can tune in.