January 22nd, 2007

A lot has happened since the last update.

First I want to report with great sadness the passing of Dr. Hugo Moser on January 20th. He leaves behind a legacy of accomplishments, yet for some reason we’re told he felt he didn’t do enough while he was here. We truly hope that deep down he knew how revered he was before he passed away. There are many children and now adults whom would not be alive today if it weren’t for the tireless dedication and contributions of Dr. Moser and his wife Ann, and for that I think I can speak for all of us and say that we are eternally grateful. Words cannot adequately describe his accomplishments. He was truly a great, great man and I am glad that I had the pleasure of meeting and speaking to him several times before he passed away. He will be sorely missed by those who knew him as both a man and a medical professional.

Here are several articles and press releases related to his passing:




Information about services and where to send donations is listed on the ULF website.

Now to more upbeat matters. I’ve said numerous times that one of Angie’s and my goals is to spread awareness about CTX through whatever means possible. There is a show that airs on the Discovery Health Channel called Mystery Diagnosis. This show is presented in a semi documentary fashion with family and individual interviews with some dramatized scenes using actors or actual family members to convey the subject matter. The show is about individuals and families who’ve had an experience with a rare illness and the journey that they went through to finally get a diagnosis. I have been a long time fan of the show and have always thought that our story paralleled many of those that I had seen on the show. I had made some attempt early in 2006 to try to figure out how one would go about getting in touch with those involved with the show. They didn’t seem to have a separate website and most of what I could find was simply the show schedule as it exists on the Discovery Health Channel’s main site.

In September of 2006, I found a link to the show on the IMDB(Internet Movie Database) website. This site lists various facts about movies and tv shows, including some cast and crew information. Using the information I was able to get in touch with one of the shows producers for 2005. At the time they were not in production but she told me that she would pass my information along to the current crew.

In late October/early November we got a call from one of the shows producers who informed us that they are interested in doing a segment about CTX and our family for the show! This was very exciting news. We’ve since been through initial interviews and have gotten official approval from the Discovery Health Channel to go ahead with the segment. We are expected to begin filming within the next 4-8 weeks.

Next, back in July during the ULF conference Paula had a representative from the Make-a-Wish foundation come and speak to the conference attendees. We learned a lot about the organization, including that it wasn’t necessarily for children who are terminally ill but also for children with chronic potentially life threatening illnesses. Knowing that, Angie and I decided to submit Ashley for a wish. Shortly after they reviewed all of her information, they approved her for a wish experience. The foundation in Oregon is a bit limited in the types of wishes that they will grant – nothing out of the United States and no Disney cruises. After lots of thinking, Ashley has decided on a cruise on the Freedom of the Seas, one of Royal Carribean’s biggest and newest ships. It’s an amazing vessel with all of the latest amenities including an on-board water park, a surfing machine, and especially for Ashley, a teen kids club. It should be a blast and we all look forward to some R&R to be able to forget about life for just a little bit.

Last but certainly not least, Paula made an announcement in the last ULF newsletter that there will be a CDCA manufacturer by the end of 2007. This certainly does help alleviate some concern however I remain cautiously optimistic as it’s a long road between here and there and if history is any indication, there is likely to be bumps along the way. Nonetheless it is great news and evidence that with the work that Angie and I have done to raise awareness along with the help and resources of the ULF and the FDA that when you work together that nothing is impossible.

That’s all for now, I’ll be sure to post more info as the air date for Mystery Diagnosis gets nearer.

August 22nd, 2006

As I promised, here’s my summary of the ULF Annual meeting. Our flight into Chicago was thankfully uneventful, we beat the bad weather by about an hour. Those arriving after us weren’t quite as fortunate, many were delayed several hours, one Doctor, from Germany was in transit for 30 hours straight due to delays, etc.and still managed to give an elegant presentation on MLD progress in Germany despite having arrived in Dekalb and being shuttled straight to the conference center to present his material. Despite the delays, the meetings stayed mostly on schedule and were presented in their entirety.

Everyone stayed at the Best Western where we all stayed for the CTX meeting. The seminars were held at the Southpointe Community Center, which is about 10 minutes from the hotel. The ULF had shuttles running throughout the day between the center and the hotel making it easy to get to the seminars you were interested in and get back to the hotel if you needed a break. The overall meeting was very well organized.

Angie and I learned a lot from the seminars of which the content was very informative; there were meetings on all aspects of Leukodystrophy from pain management, to physical therapy, genetics, to ways to deal with the school system, and seminars covering the different aspects of the other Leukodystrophies. It was great to meet all of the Doctors and the families. We got to meet Mike, one of the first boys, now 27 who was cured of ALD by a bone marrow transplant at age 9. Hearing stories like his gives hope to many people and is a very encouraging example of how people fighting for a cause can make a difference.

We heard many stories from many families and patients. One thing that is common for most of the families as with us is the fight that it took to get a diagnosis. We met several men who had the adult form of ALD, known as AMN, who went through many tests to get a diagnosis. We met a couple of women who were symptomatic carriers of the ALD gene whom had initially received a diagnosis of Multiple Sclerosis. Several of them had started taking a shot that is the one of the prescribed treatments for MS.

Unbeknownst to them, the shot they were taking is treating a disease that they don’t even have and who knows what it can do to a person who doesn’t have MS. We also met two symptomatic ALD women who didn’t get an ALD diagnosis until their sons were diagnosed with AMN. It’s clear that so much more has to be done to educate the medical community not only in CTX but most, if not all of the Leukodystrophies. There were several parents we talked to who were there for the second opinion program to try and get a diagnosis.

Sadly, one couple had to leave before the second opinion to fly home and be with their son who is affected by an undiagnosed Leukodystrophy. Thankfully they were able to leave their films and test results for the doctors to review and hopefully give them something to pursue.

It was an awesome experience to be amongst some of the world leaders in Leukodystrophy research and to be able to talk to any of them during the evening events was something that a price cannot be placed on. Also encouraging was meeting the young doctors who are researching different aspects of Leukodystrophy, these are the ones who will carry the torch when the ones we know now retire from practice. It was a truly great experience. We look forward to the 2007 Symposium and bringing CTX into the fold as an agenda topic.

Angie and I have been told that DVD’s of the CTX meeting are available. The price that we’ve been quoted is $50 for the set of 4 DVD’s that comprise the footage of the meeting. I have been instructed to refer folks to Janet Read at the ULF to place orders for the DVD’s of the meeting.

Discussions continue to occur regarding the sustained supply of CDCA in the US, or if needed outside the US. We don’t have much information to share but things seem to be going in a positive direction. As soon as we have accurate information to post I will provide a report.

July 15th, 2006

I have put up a small photo album from the post CTX meeting at Ron and Paula’s house. You can get to it by clicking here. Also some folks have been putting some effort into finding alternative CDCA sources by looking into local compounding pharmacies. Donnie Purvis reported that his local pharmacy is looking at $800 for a 3 month supply. That will obviously not work for us, it’s simply too expensive. I have had some correspondence with Jim Bona since the meeting and he suggested that we wait until his office along with the ULF has had a chance to iron out details with the discussions that they’ve been having with various pharmaceutical reps. We have spoken with Paula and they should have some information very soon about the next steps in obtaining the medication.

Ashley is currently participating in a research study conducted by Dr. William Connor, one of the physicians who attended the CTX meeting. You can read about it here:http://www.clinicaltrials.gov/ct/show/NCT00004346. She has been in the research clinic since last Sunday, the 8th. Angie stayed with her this week while I stayed at home with Jacob. I relieved her last night and spent my first night here last night. I’m sitting in the hospital bed as I write this.

She has had her diet carefully controlled and monitored and has had many tests, including a spinal tap yesterday. Other than a little pain at the injection point she did great. She was quite nervous about it as she didn’t know what to expect. I suspect it won’t be her last one so she is better prepared now for when it comes her way again. We get to go home tomorrow after which there will be some significant dietary changes such as switching to fat free dairy products and limiting fat intake from other food groups. It will take a fair amount of adjusting but there’s no doubt it will be good for everyone in the house from a health standpoint.

While Angie was here at the research facility, she met a Doctor Robert Steiner who is an Associate Professor for the Pediatrics and Molecular and Medical Genetics, theVice Chair for Research, Head-Division of Metabolism in the department of Pediatrics of Doernbecher Children’s Hospital at Oregon Health & Science University.  He spoke to Angie about newborn screening and mentioned that his research team are working on or are very interested in pursuing research on newborn screening for CTX.  As we all know early diagnosis is crucial in CTX and if this becomes a reality, the number of lives improved will be a huge benefit.  He has contacted Paula at the ULF in order to discuss a plan for making newborn screening for CTX a reality.  This is great news!

Angie and I leave Wednesday morning to fly back to Dekalb for the annual ULF meeting. It’s going to be a lot of work and a great learning experience for us. We are excited to meet all of the families and Doctors and learn more about the Leukodystrophies. I’ll post a report when we return.

July 7th, 2006

We had a great meeting in Dekalb. We were impressed and pleased with the turnout and think that those who were able to make it feel that it was worthwhile. We had great presentations by all of the physicians, some of which really highlighted how crucial and beneficial CDCA therapy is in regards to treatment of CTX. We also got some good news from James Bona, who is a Captain in the U.S. Public Health Service division of the Office of Orphan Drug Development at the Food and Drug Administration. We have a handful of options for resolving the impending issues with medication and with some help from James and his division, we think we are going to be ok in regards to maintaining the CDCA supply after December of 2007 which is when it’s predicted that the Falk foundation will cease production of Chenofalk.

Some key things we talked about during meeting besides the medication was building an international registry of CTX patients. This will help facilitate more communication between patients and doctors and can serve as a means for greater education among those physicians who are currently treating CTX patients so that they can see the variations that clearly are present in the symptoms amongst individuals who are treated for CTX.

While CTX does present with some common symptoms, it was made quite evident by the presentations that the onset and severity of those symptoms can vary greatly from person to person. With a common registry, more patients and their history’s can be made available for comparison and possibly lead to some pattern in the genotype/phenotype relationship amongst CTX patients. This could possibly lead to more and better CTX treatments as well as revealing unkown issues such as environmental triggers, etc. that may or may not influence the onset of CTX symptoms. This is another aspect of CTX that hasn’t been fully researched yet. Dr. Berginer’s presentation touched on this, which I found interesting as I have always been curious if research had been done in this area and the results of that research.

Another thing that we touched on was research that we feel needs to be done in the area of CTX. We think most patients and physicians will agree that CDCA is the definitive treatment for CTX and that research in this area of CDCA in treatment of CTX is not going to yield any significant value over what is currently known. While we didn’t necessarily come to a consensus about desired topics for research, Angie and I both feel strongly that an area that hasn’t been fully pursued, or has been but to a lesser degree is research around the formation and dissolution of the Xanthomas that appear in CTX patients.

Dr. Berginer did present some data indicating that some patients did not develop Xanthomas in addition to listing other symptoms that certain individuals did not present, however it seems evident that all patients have some risk of forming these painful growths. Realizing that Xanthoma formation can be very painful and contribute to limited, painful movement, we feel that this is an area that needs research to better understand, treat, and hopefully eliminate them.

I was also intrigued by a finding that Dr. Connor presented with a theory of Cholestanol formation and/or slow efflux of Cholestanol in the brain. I think that this theory warrants investigation. Without being a neurologist, I would venture to say that Cholestanol buildup in the brain is certainly not a good thing and that discoveries of this kind need serious consideration and investigation. We think this should be on the short list of research topics.

As we as a group continue post discussions about the meeting, we are confident that additional research topics will be raised and communicated back to the physicians and other individuals who can provide direction on the subject of research and how best to focus the resources that we as patients, and they as physicians have to realize and implement these research goals.

Lastly, we want to wholeheartedly thank all patients, their families, and the doctors who attended. Many came from far flung locations and sacrificed a great deal to attend. We also want to thank the ULF and all the volunteers who helped in all aspects from the meeting preparation to the social events that were part of the event. Without their support this meeting quite likely would not have happened on the scale that it did.

It was great to meet all of the families, patients, and doctors and to be able to discuss how we are going to proceed. We feel that this is a great start to some wonderful things from all perspectives of CTX care including diagnosis and treatment. We look forward to having some dedicated time for CTX next July during the annual ULF meeting and are excited to see the developments that will occur between now and then. We hope that everyone who attended felt this meeting was as productive as we did and left with a positive feeling about the future of CTX and the patients who are affected by it.

May 24th, 2006

Quite a bit has been going on in regards to the CTX meeting on July 1st. I have a bit of news that Angie and I feel pretty good about. During all of our communications about the upcoming meeting, we have had conversations with many individuals, patients, physicians, etc.

About 4 weeks ago, we were contacted by Paula Brazeal of the ULF. She told us that she really liked the efforts that we were putting forth around CTX. This led to Paula extending an invitation for Angie and me to come to Sycamore, Illinois the home of the ULF. The purpose of the visit would be to attend a ULF board meeting, meet the board members and to extend an offering to us for positions on the ULF board of directors.

After we sat through the annual report of the organization and met Paula, Ron, and the rest of the board members, we felt that it would be an injustice to the small group of CTX individuals to not join the ULF. We feel that being able to leverage the resources and receive the support that they have offered for the benefit of the CTX group would help us achieve some of our goals immediately and to also become involved in something much larger. It was these things that made it an easy decision to accept a position on the ULF board.

We learned how much the ULF has accomplished in the area of Leukodystrophies and witnessed how extremely well run an organization it is. We feel that the ULF is genuine in its support of CTX and the Leukodystrophies as a whole. Our position on the board will help to provide a voice for CTX patients and provide an avenue to be heard by a much larger audience. The network of individuals that the ULF has established would take many years to accomplish and we felt that instead of reinventing the wheel that we should join forces to help realize the goals that we have set forth for the CTX patients.

This position is completely voluntary, that there is no compensation for us as board members. The motivation for joining is that Angie and I truly feel that it is in the best interest of the group.

There is more news that will be revealed at the July 1st meeting, the end result being that the group as a whole will be better off by aligning with the ULF, and we aim to benefit the ULF with our involvement as well.

This also helps clear our agenda of some of the other items that we had targeted for discussion about how we were going to go forward as a group and how we were going to target some of the issues we were facing.