February 28th, 2014
New page on the site
A quick note to say that I've put a new page on the site. As part of the conversations I had with Retrophin staff, and observations of information provided to me via e-mail, it was a stark reminder that nowhere on the site did I have a single place to go to get information on the steps to take if someone is facing a potential CTX diagnosis. To satisfy that need I have created a page that describes the steps that one should take in this process. I provide information on testing labs for both blood and genetic testing, website and contact information for Centric Health Services, and a blurb and link to the Inspire CTX community where one can interact with other CTX patients. Lastly, Dr. Andrea DeBarber at OHSU, who is working toward developing a newborn screening test has allowed me to provide her e-mail as a contact for those who might have other questions.
You can get to it by clicking the Get Help link on the left or the Get Help button above.
February 25th, 2014
Retrophin Announces Agreement to Acquire Manchester Pharmaceuticals
I wanted to put up a note to inform everyone that Manchester Pharmaceuticals has been acquired by Retrophin. As those who have been taking Chenodal know, Manchester has been manufacturing the medication for CTX patients in the US for about the past 2 years. Now that will shift to Retrophin. From their website, Retrophin is a biopharmaceutical company focused on the discovery, acquisition, development and commercialization of drugs for the treatment of debilitating and often life-threatening diseases for which there are currently limited patient options.
I have had a few conversations with some of the individuals at Retrophin and have come away from those conversations excited for the future of care, advocacy, education, awareness, treatment, and research for CTX patients.
I am eternally grateful for the work and contribution that Manchester and their staff provided as the manufacturers of Chenodal and credit them for having the confidence to hand over the future of CTX to Retrophin.
Here is a link to the press release about the acquisition: http://amda-1pla2o.client.shareholder.com/releasedetail.cfm?ReleaseID=825424
May 4th, 2012
I wanted to write a quick note to announce the CTX Meeting happening in Illinois in July. Take a look at the agenda. It's shaping up to be exciting and very informative. I hope a lot of families are able to attend. I look forward to meeting you/seeing you again! Here are the details:
ULF/STAIR Family & Professional CTX Meeting
Thursday July 19th Arrival
Friday July 20th Meeting
Family Registration: $100.00
Professional Registration: $300
CTX 2012 Meeting Tentative Agenda
Until the next update...
July 25th, 2010
As part of my involvement as a CTX patient advocate, I will do a Google search periodically for CTX to see if any new research articles have been published. The goal of this is to locate potential resources or advocates in the medical community who may be able to contribute to helping us accomplish our continually growing list of goals for CTX patients with a diagnosis and for those yet to be diagnosed.
The other day I was doing just this and to my surprise happened across an article by Fernando Quintero published on April 4th, 2010 in the Orlando Sentinel. The article highlights a dermatologist, Dr. Michael Steppie who was in New Orleans at the time a family came to him presenting with Xanthomas on a woman, her sister, and her cousin. Dr. Steppie performed an examination and determined that the xanthomas were not characteristic of a common cyst that he typically sees. He enlisted help from a researcher who sent him numerous articles on CTX. It didn't take long for Dr. Steppie to surmise that he was likely looking at a set of CTX cases. Dr. Steppie contacted Dr. Salen and a CTX diagnosis was confirmed in the 3 individuals. There was a video segment filmed to with the article that I assume aired on a New Orleans news channel, you can view the video segment by clicking here.
This experience drove Dr. Steppie to want to be a patient advocate and realize the need for patient and physician education about CTX. To that end, Dr. Steppie has filmed a segment for Mystery Diagnosis! That's right, there will now be TWO separate segments about CTX on the Mystery Diagnosis show. This may be first, I am not aware of any other disorder that has had 2 segments filmed for the show. This is outstanding news and I am pleased to see that the producers of the show are able to see the importance of raising awareness about CTX to have filmed two separate segements about it. I am quite excited about this and anxiously await the first airing of the show which will be on airing on Monday August 2nd at 9 p.m. on the Discovery Health Channel. Be sure to check your local listings to make sure you don't miss it. Here's the description of the show:
The Girl Who was Covered in Bumps
Holly experiences horrifying pain that coincides with her menstrual cycle, will this threaten her chances for having children? Then Tina is struggling to keep up in school. Life gets worse when disfiguring growths start to form all over her body.
For those who haven't seen the segment that Angie and I filmed for the show, you can view it by clicking play on the video above.
I have reached out to Mr. Quintero and to Dr. Steppie to open a line of communication and to ask how Dr. Steppie may be able to contribute as a patient advocate in the field of Dermatology. I admit that I had not thought of the Dermatology field as one that would see, nor assist in getting a diagnosis for a CTX patient. It just proves that no stone should be left unturned when it comes to CTX.
Work continues on developing a newborn screening test for CTX. A couple of weeks ago I spent an afternoon with Dr. Andrea DeBarber and was able to get a glimpse into her world and her work on this important facet of this disorder. She continues to amaze and impress me with her dedication and skill as a researcher. I am very fortunate to know and have people like her on my side in this fight. Thank you Andrea.
Lastly, I want to just say a big thanks to Manchester Pharmaceuticals and Centric Health Resources for all they've done so far in helping the patients and families in getting medication and keeping it coming on a regular basis. I know I speak for everyone when I say that this has been a huge relief in managing the care of those in our lives affected by CTX.
That's it for now, I'll post more as new developments occur with Dr. Steppie.
Until the next update...
February 28th, 2010
As previously posted, on October 22nd, 2009 the FDA issued approval to Manchester Pharmaceuticals, Inc.&trade to manufacture a version of Chenodiol 250mg tablets, which is marketed
in the United States under the trade name of Chenodal&trade . As a result, new options have become available regarding the care and management of CTX, including the method for ordering medication. Previous
to the FDA approval, the only option was to order Chenofalk from John Bell & Croyden with the patient absorbing the entire cost of the medication. With Chenodal, insurance and/or Medicare/Medicaid coverage is
available to subisidize the cost of the medication and a new process has been established for obtaining the medication.
In addition to manufacturing Chenodal, Manchester Pharmaceuticals has partnered with Centric Health Resources to establish the Chenodal Total Care
Program(CTCP). The CTCP aims to serve as a single point of contact for CTX patients to manage their care including an established medication ordering process, as well as working with Health Insurance or
other medical assistance providers for issues regarding insurance coverage. Manchester has committed to ensuring that all CTX patients will have access to Chenodal regardless of their prescription coverage.
Most reading this should be registered with the ULF and have possibly received the mailers with the information to register with Centric, however for those who haven't I wanted to post the information here.
Anyone not currently enrolled in the CTCP is encouraged to contact the CTCP now at 1-866-758-7068 to begin the process of setting up their first order of Chenodal or to obtain more information about the
benefits of the CTCP. Customer Service representatives are available to assist you Monday through Friday 7:00 AM to 6:00 PM CST.
If anyone has any questions, feel free to contact Angie or John.
Until the next update...
October 22nd, 2009
It's APPROVED!!! After a very long time and lot's of effort from all of the folks involved, we just got word today that the FDA has approved Chenodal for use in the US to treat CTX patients.
Chenodal is the new name that the CDCA medication will be marketed under in the US. This means no more dealing with importing it from London, insurance coverage, and a host of other great benefits that
will come out of this. Looking back over the site, I see that we started discussions about a US available supply of medication in July of 2006 so here we are just over 3 years later and finally it's
coming to fruition. Patients will have the medication available within the next 2 months!!!
I can't possibly express my gratitude to everyone who put in the time, not to mention a lot of money to get this project across the finish line. Without their help this would have taken much much
longer to accomplish. This is just the beginning of things to come but it's a HUGE hurdle to overcome and will open doors to many more things that will benefit CTX patients not only in the US
but also worldwide.
Things have been pretty quiet for a while but I feel that it's not going to stay that way for too long, and that's a very good thing.
Until the next update...
October 13th, 2009
Well, it's been a very long time since the last update and a handful of things have happened since. We continue to move toward an FDA approval for CTX treatment. The two companies who are
working on this, Sigma Tau and Manchester Pharmaceuticals are in various stages of review by the FDA for their individual efforts toward accomplishing the goal. No firm dates have been set yet
but I fully expect to see something solid by the end of the year with a hope that manufacturing and distribution of the newly approved medication in production within the first quarter of 2010.
As we've learned through all this, patience is paramount and any number of factors can hold things up but the most important thing to note is that the medication in its current state will
continue to be available until the new medication is fully available.
I am also participating in a steering committee for developing a Health Management Program for CTX patients. The program is being developed by
Centric Health Resources. Centric Health Resources is a company that strives to deliver prescribed therapies and specialized health management services to individuals affected by orphan
diseases. The basic goal of the program is to develop several components to a comprehensive treatment protocol to manage patients and their treatment regimen as well as to develop literature
for physicians to distribute to patients that have references to resources available to patients and/or their caregivers. This is greatly simplifying it however. Please visit their site to learn
more about them.
Lastly, Dr. Andrea Debarber who works as an Assistant Professor in th BioAnalytical Shared Resource lab in the OHSU Department of Physiology and Pharmacology continues to make amazing
progress in her research of developing a newborn screening test for CTX. In order to continue her research she relies on grant funds from various organizations. One of the(if not the) biggest
grant providers for disease research grant money is the National Institutes of Health(NIH). Recently the NIH announced an expansion of the Rare Diseases Clinical Research Network, which
consists of a second phase which includes funding for 19 additional research consortia. OHSU is one of the research consortia included in the expansion which designates 117 Million dollars
over the next 5 years to be distributed for research. Several of OHSU’s research projects will benefit from this grant money one of which is the CTX newborn screening test research. This is
phenomenal news for us, and of course the researchers as this has been one of the many goals that we’ve had as part of our bringing increased attention to CTX from a patient advocacy perspective.
The NIH press release can be seen here
That’s about all for now, more to come as additional developments occur.
Until the next update…
July 10th, 2008
It's official! Sigma Tau has issued a press release regarding it's acquisition of the Chenofalk brand and formula and it's commitment going forward to supply
the medication for CTX sufferers worldwide. It's nice to see these fruits of our labors. Angie and I have worked hard(along with many others, Sigma Tau, the ULF, etc.)
to make this a reality. It's great day!
FOR IMMEDIATE RELEASE:
Sigma-Tau Pharmaceuticals Seeking FDA Approval of Medicine for Rare Genetic Disease Affecting Less Than 100 Americans
Jul 09, 2008, GAITHERSBURG, MD Sigma-Tau Pharmaceuticals, Inc. is pleased to announce the acquisition of Chenofalk(R) (chenodeoxycholic acid) from the Germany-based, Dr. Falk Pharma GmbH. Chenofalk(R) is approved in Germany for the dissolution of gallstones, and Sigma-Tau's German affiliate, Sigma-Tau Arzneimittel GmbH, will immediately assume distribution of this important medicine, ensuring there is no interruption in availability to patients.
The acquisition of Chenofalk(R) is important not only to ensure continued supply in Germany, but Sigma-Tau Pharmaceuticals also intends to accumulate the appropriate clinical and regulatory documentation required to support the filing of a New Drug Application (NDA) with the U.S. Food and Drug Administration (FDA) for the use of chenodeoxycholic acid (CDCA) in the treatment of Cerebrotendinous Xanthomatosis (CTX) disease. CTX is an extremely rare genetic disease which is believed to affect fewer than one hundred people in the U.S.
"We are pleased to add CDCA to Sigma-Tau's rare disease portfolio. Sigma-Tau is committed to the development of medicines for patients with rare diseases, and the acquisition of Chenofalk(R) provides relief to patients concerned about a disruption in supply," said Gregg Lapointe, Chief Executive Officer of Sigma-Tau Pharmaceuticals. "Acquiring the underlying clinical, manufacturing and safety data contained in the Chenofalk(R) dossier is also an important milestone in Sigma-Tau's goal of ultimately securing FDA approval for the use of CDCA in patients with CTX."
CTX is a metabolic disorder with no FDA-approved treatment in the United States. People with this disorder cannot break down certain cholesterols effectively. Consequently, these cholesterols accumulate in various areas of the body. Some features of CTX include chronic diarrhea during infancy, clouding of the lens of the eye (cataracts) developing in late childhood, progressively brittle bones that are prone to fracture, and neurological problems in adulthood, such as dementia, seizures, hallucinations, depression, and difficulty with coordinating movements (ataxia) and speech (dysarthria).
In 2007, Sigma-Tau obtained an Orphan Drug Designation from the FDA for the use of CDCA in CTX. Since then, Sigma-Tau has worked closely with the United Leukodystrophy Foundation (ULF) to better understand the impact of CTX disease on patients and the importance of proper newborn screening for the disease.
About Cerebrotendinous Xanthomatosis (CTX)
Cerebrotendinous Xanthomatosis (CTX) is a rare, autosomal recessive metabolic disorder caused by mutations in a gene called CYP27A1, which produces an enzyme called sterol 27-hydroxylase. Sterol 27-hydroxylase is required to turn cholesterol into bile acids, which are important in the absorption of fat in the intestine. In addition, when sterol-27 hydroxylase is not working properly, cholesterol and precursors of bile acids will accumulate in tissues throughout the body causing a variety of physiologic and neurological problems.
About Sigma-Tau Pharmaceuticals, Inc.
Sigma-Tau Pharmaceuticals, Inc. is a U.S. based, wholly owned subsidiary of the Sigma-Tau Group, and is dedicated solely to the global development and commercialization of medicines for patients with rare diseases. Sigma-Tau Pharmaceuticals, Inc. is based in Gaithersburg, Maryland.
Since 1989, the company's products have been focused on rare diseases, kidney disease, and cancer. With more than 6,000 identified rare diseases that affect approximately 25 million patients in the U.S., Sigma-Tau places its considerable scientific resources behind the development and commercialization of compounds that benefit the few. The company has a substantial development program focused on transplant, cancer, inherited genetic disorders, malaria, and other areas of unmet medical need. For more information about the company, visit www.sigmatau.com.
About Sigma-Tau Group
Sigma-Tau Group is a leading research-based Italian pharmaceutical company with a 2007 consolidated turnover equal to approximately US$ 980 million and over 2,500 employees worldwide. Therapeutic areas in which Sigma-Tau Group's research and development are focused include cardiovascular disease, metabolism, oncology, immunology, central and peripheral nervous system with 47 projects, 30 clinical indications studied with 17 proprietary molecules, most of which are new and original. For additional information about Sigma-Tau Group, please visit www.sigma-tau.it.
About United Leukodystrophy Foundation (ULF)
The United Leukodystrophy Foundation (ULF) is dedicated to helping patients and family members afflicted with various types of leukodystrophies including CTX. The ULF is committed to the identification, treatment and cure of all leukodystrophies through programs of education, advocacy, research and service.
For more information, please contact:
Vice President of Commercial Operations
May 1st, 2008
We just got back from a cruise aboard the Liberty of The Seas, the sister ship of the Freedom
of the Seas which is the ship that we were on for Ashley's Make-A-Wish cruise. The Liberty took us to the Eastern Caribbean with the port stops
being Philipsburg, St. Maarten, Labadee Haiti, and San Juan Puerto Rico. We had a great time as we did on our last cruise but the weather wasn't quite as nice as the Western
Caribbean cruise last year. Overall I think we prefer the Western Caribbean ports. We are looking to book on the next Royal Caribbean flagship, the Oasis of the Seas.
I will put up some photos soon.
November 19th, 2007
I have a little bit of news to report. First, through some negotiations, the Falk Pharma
foundation has agreed to manufacture CDCA through the end of 2008. This means that the deadline regarding access to CDCA that
we thought we were facing at the end of this year has been extended and everyone will continue to order CDCA through John Bell & Croyden
I would guess that this deadline is somewhat flexible though as I don't believe that they will
strictly cut off access December 31st but would allow current supplies to be ordered until they are exhausted. I know that Sigma Tau
and the FDA are diligently working on their efforts to drive the project forward of manufacturing CDCA and distributing it in the
US under a designated CTX treatment label and am confident that it will be up and running before the end of next year. Everyone
involved has the best interest of the patients in mind and know the time table. I feel very priviledged to have a team of people
working for the health of my child, and all CTX patients in the US.
Mystery Diagnosis continues to run the CTX episode, it was on again last night and also has the following
dates coming up for additional airings:
- Monday, November 26th at 10:00 p.m.
- Tuesday, November 27th at 1:00 a.m.
- Saturday, December 1st at 7:00 p.m.
- Sunday, December 2nd at 2:00 a.m.
Until the next update...
September 3rd, 2007
I just wanted to make quick update to announce additional airings of the Mystery Diagnosis episode :
- Saturday, September 8th at 8:00 p.m.
- Saturday, September 8th at 11:00 p.m.
- Sunday, September 9th at 2:00 p.m.
Also, the name of the episode is Frenetic Genetics, here's the episode description:
Ashley's illness began with chronic diarrhea as an infant, and branched out to such diverse symptoms as ADHD and cataracts. Nissa, an ER nurse, took sick with the flu and was diagnosed with Lymphoma before swelling in her hands gave her illness away.
That's all for now.
Until the next update...
September 2nd, 2007
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.
Until the next update...
July 29th, 2007
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.
Until the next update...
June 2nd, 2007
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.
Until the next update...
May 7th, 2007
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.
Until the next update...
March 1st, 2007
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.
Until the next update...
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.
until the next update..
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.
until the next update..
July 15 th, 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.
Until the next update...
July 7 th, 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.
Until the next upate...
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
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
Until the next update...
May 1st, 2006
A lot has been going on since the last update. We have finalized a date for the ULF sponsored CTX summit. It is happening on Saturday, July 1st 2006 in Dekalb, Illinois. We have been successful in contacting many CTX families and patients as well as Doctors who are knowledgeable about CTX and in some cases treat patients.
Here are a few names of individuals who are invited:
1- Dr. Gerald Salen - Confirmed as attending
2- Dr. Shailesh Patel- has done research with Salen and others - Confirmed as attending
3- Dr. Vladimir Berginer- he lives in Israel and has about 60 CTX families. He is also the individual who made the original discovery of CDCA's effectiveness in CTX treatment - Confirmed as attending
4- Dr. Setchell/Bo Allen- Dr. Setchell and Mr. Allen are partnering to form a company to manufacture CDCA in the USA - Not confirmed
5- Dr. William Connor- Dr. Connor is currently at Oregon Health Science University and is beginning a research study on the effects of a low cholesterol diet and it's effects in preventing the Xanthomas that are a symptom of CTX.
His special interest is in atherosclerosis, nutrition and lipid metabolism. - Confirmed as attending
6- Dr. Antonio Federico - Dr. Federico is a full professor of Clinical Neurology and Director of the Department of Neurological and Behavioral Sciences, University of Siena. - Confirmed as attending
7- Dr. William Rizzo - Dr. Rizzo is the head of the biochemical genetics specialty program at University of Nebraska's Medical Centers Munroe-Meyer Institute. He is a pediatrician from the Medical College of Virginia, where he researched inherited metabolic diseases for almost 20 years. Dr. Rizzo also heads the Section of Inherited Metabolic Diseases in UNMC's department of pediatrics- Confirmed as attending
We will also have a representative from the FDA in attendance as well. Our little meeting continues to grow as word spreads. We feel we are making a great start to amazing things. We are also thinking of doing a hospitality night Friday June 30, this way we can spend some time getting acquainted.
I will be posting more info as the meeting draws closer.
Until the next update...
Past news updates are available here