February14th, 2006

In our earlier discussions with Bo, there was a chance that we would be attending the Annual Clinical Genetics Meeting. The Annual Clinical Genetics Meeting is hosted by the American College of Medical Genetics( http://www.acmg.net/ ).

The ACMG Annual Clinical Genetics Meeting is the most important meeting in the clinical and medical genetics arena – complete with cutting edge science, practical clinical applications and a display of the latest services, technology, and medical advances in this rapidly growing medical specialty.

The ACMG Annual Clinical Genetics Meeting attendees are of the highest caliber in the field of clinical and medical genetics, they are the buying decision-makers for the products and services utilized in their facilities and in their practices, and they view the exhibit hall as a logical extension of the educational experience of the meeting. Exhibitors experience an unmatched setting for communicating the latest developments in genetics through their booth displays and educational sessions offered in Exhibitor Laboratory Theaters and Industry-Supported Symposia.

Bo was working with the the Society of Inherited Metabolic Disorders( http://www.simd.org ) who are participating in the Annual Clinical Genetics Meeting (ACMG). Bo had suggested that it might not be a bad idea for Angie and I to go to be there as a patient presence for CTX. It is going to be held in San Diego on March 23rd through March 26th.

He also gave us a list of other Doctors in the US who know about CTX. We are going to be contacting those Doctors to get them involved with our efforts. We ended up getting in touch with with a representative from SIMD and were told that it would not be the best use of our time and money to attend this conference, that many Doctors are foregoing the San Diego conference and instead are attending the world conference in Japan. We will not be going to that one unless we get full sponsorship and even then it's a tossup. We will continue to look into this as the time draws nearer to this conference.

We have sent contact letters to all of the patients that Dr. Salen sent us and are beginning to get some responses back. Some of the stories are quite tragic and it's apalling to us to hear how many people are not taking CDCA and don't even know where or how to get it. Many of these folks don't have access to modern technologies such as computers or internet to be aware of these things and it seems that their physicians and caretakers are dropping the ball when it comes to their care.

In addition, someone whom I've had no previous contact with has contacted me in regards to a CTX patient they are working with who is in the same situation. I have sent them Jim Bona's contact information so that they might be able to get help for this patient.

One of the first things we want to do is compile all of the stories we get together so that we can compare the road to diagnosis for each patient . This will hopefully show us some of the other areas where improvement is needed in the medical field for this disorder

Until the next update...

February 2nd, 2006

I have quite a bit of news today. There has been a fair amount of conversations happening since the conference call in December but I didn't want to post until all the information was gathered. Soon after the conference call and after some time had passed as to when we were expecting to hear about the efforts being made to get CDCA into the US, we got in touch with Rare Disease Therapeutics(RDT) and asked them for any news. We were able to speak to Bo Allen's assistant who informed us that RDT was not working on any such effort. We were told that it is Dr. Kenneth Setchell who is spearheading the effort.

We were a bit surprised as this differed from what we had discussed during the conference call. Dr. Setchell is the director of the Clinical Mass Spectrometry Laboratory at Cincinnati Children's Hospital Medical Center. Not content to leave it at that, we contacted Dr. Setchell to get his side of the story. He did corroborate what Bo's assistant said that he was in fact working on getting CDCA into the US in bulk form and organizing an operation to get CDCA to patients. He is the Dr. whom I have heard is treating some patients with Cholic Acid. We asked him about this and he stated that he does treat his younger patients with Cholic Acid, apparently they have a good response with Cholic Acid. He said that as a patient gets older, he recommends moving to CDCA therapy. He mentioned that his supply of Cholic Acid is drying up which, along with the scarceness of CDCA has motivated him to undertake this effort. He did say he is also willing to help our cause in any way he can. I have a feeling we will all get to know Dr. Setchell in the future.

Angie and I discussed this information and were unable to put it all together to determine what was really going on with everything. It was nagging at me and so I persuaded her to call Bo Allen at home last night. Her conversation with Bo was very enlightening. It turns out that Bo has left RDT and is now partnering with Dr. Setchell in forming a company to get CDCA made here in the US. This corroborates an e-mail I sent on Wednesday to Dr. Salen asking about the differing bits of information that we were geting. Bo said that Dr. Setchell is currently in Australia trying to raise money to this off the ground. Bo said they need about $1M to get going.

There are 3 different drugs they are going to target with this effort. One is Cholic Acid, one is CDCA and I can't remember the third but it's used to treat pulmonary hypertension in infants. There are of course numerous government regulations and processes that must be followed to get this to all fall into place. One of those processes involves a detailed manifest about CDCA. To get this manifest together is quite expensive and time consuming, up to 3 years. Bo was hedging on not having to draft a new one but to be able to obtain one already created. He intends to contact Solvay who previously manufactured Chenix which was the retail name for CDCA when it was available within the US.

We spoke with Bo over the weekend about this and it turns out that he is 99% sure he will be able to get this set of documents from another source and not have to draft his own set. Some other news to report is the cost of CDCA once it becomes available. According to Bo, there is a government requirement that each patient have a 'maintenance'(not the official term) fee each year of 5 to 8 thousand dollars. This would price most, if not all of us, right out of being able to obtain the medication. We suspect that grants will be responsible for keeping the medication attainable to patients with such a barrier in place. I should also mention that even though this is moving now, that it could be 2 years before the first set of capsules rolls out of the lab.

Bo said that he thinks that the Falk foundation will likely manufacture 1-2 more batches of CDCA before they halt production. We did not ask how much a batch is and how long it would last. In th event that we are facing imminent unavailability of the medication, Bo said that there are some emergency measures we can take under the guise of his new company to get the bulk CDCA and distribute it prior to all of his requirements being completed for his company. He says that Dr. Setchell's lab has the capability to put it in capsule form in such a situation.

Lastly I should mention that Dr. Salen did send us a list of patients who are interested in becoming involved in our organization. We are going to be contacting each of them and will be posting information about that as it comes in. That's all I can think of for now. If there are any details I left out, I will update later.

Until the next update...

January 18th, 2006

It's been a while since the last update so I'll try to consolidate as much as I can about all of the developments that have occurred since the last update. We have received our first shipment of CDCA from the John Bell&Croyden pharmacy in London, so at least for now, that hurdle has been overcome.

Ashley's latest test results show continued improvement from the CDCA therapy, which continues to be encouraging. In the meantime we have been having many discussions about the future availability of the medication, and how our efforts going forward should be directed. On December 18th, we had a conference call with Dr. Salen and Dr. Patel. We wanted to talk to them to get their recommendations as to where we could best focus our efforts. We started the call by identifying a few main topics for discussion:

If and how we would form an organization. Some of this goals of this organization would be:

•  Bring patients together to form a more united front to achieve the groups goals and to serve as a support group.

•  To serve as an information resource for patients and physicians in many aspects of CTX treatment including:

• i. management and monitoring protocols

• ii. Discuss where monitoring takes place if not available locally for patients.

• iii. Increase awareness and education of the public, and the medical community.

•  How to establish a steady supply of chenodeoxycholic acid, currently the only therapy for CTX.

•  Support more research into CTX. Among items to be achieved with research are better management of the patients with CTX and establishment of a Standard of Care for CTX.

Dr. Patel and Dr. Salen have been in discussions with the ULF, who have agreed to fund a conference (hotel and meals) next summer, most likely early July that would only be for CTX patients, Doctors, and Families. We would all be responsible for our transportation to and from the conference. This would be separate from the regular ULF conference that takes place every year.

We had a discussion about the numbers of those affected with CTX and Dr. Salen stated that he currently treats about 50 families in the United States for CTX. In some cases these families have more than one affected individual and an estimate of 75 total patients with CTX was given. He does not have numbers for individuals outside of the US. Dr. Salen also mentioned that even though CTX is still considered a rare disorder that he does feel that it is misdiagnosed often and is likely more common than the numbers indicate. He later mentions that they are diagnosing an average of 3-4 more patients per year with the average age of diagnosis being teenager to early 20's.

Dr. Salen committed to contacting all of the patient's under his care and letting them know about our efforts so that we can begin building a larger base to draw from in our efforts going forward.

Next, we talked about CDCA and the current developments around the supply, future supply etc. After a quick recap of the situation over the last year with CDCA Dr. Salen revealed that Rare Disease Therapeutics is now back in the picture. We have had some discussion on the yahoo group about agricultural grade CDCA and/or bulk batches of it and had many questions about it's usefulness in treating CTX. According to Dr. Salen, RDT is investigating whether they can import this bulk CDCA from either Korea or Japan. If they find they are able to, then they will begin negotiations with companies in the United States who would be willing to take bulk supplies of CDCA and put it into capsule form.

The question of why CDCA is manufactured in bulk form was asked. Dr. Salen responded with the answer that CDCA is used as a compound for several medications to treat diseases and disorders that relate to liver metabolism. One such medication, Ursodiol is still widely used and needs CDCA to be manufactured. This is a high grade, medicinal class of CDCA and is perfectly adequate to be put into capsule form and given to CTX patients. This is encouraging to know that there doesn't appear to be a future lack of supply of CDCA itself. The problem is getting it to CTX patients in the US in a dosable form.

Before we disconnected, Dr. Patel summarized a few action items to take immediately:

•  Contact the ULF to let them know that we are interested in a CTX conference in July of 2006.

•  Contact Bo Allen at Rare Disease Therapeutics about the developments in getting a steady supply of CDCA.

•  Contact families and canvass about establishing the organization as well as the July Conference.

I will post more news as it comes regarding the efforts going forward.

Until the next update...

August 22nd, 2005

Walter, the founder of the yahoo group made in interesting post to the yahoo group today:

By the way, we are all going to keep on keeping on right? What I mean is, I hope all of the alternative plans will still be explored. I'd hate to go through this again and again and again. My veins are not what they used to be. Looking back it seems everyone had their own ideas on long term solutions and I hope they keep on. Don't know if I mentioned it before, but I am trying to obtain (legally) a sample of the agricultural version, and I am going to send it to a friend who is a chemist to see what the differences between it and Chenofalk are. Rest assured, if there are no insurmountable differences I will be letting everyone know. Including the FDA and the center for disease control. It would be a good backup plan if all else fails.

I am quite interested to see how this pans out and will post the info I get here as he conveys to us.

Until the next update...

August 16th, 2005

Jim Bona at the FDA has pulled through for us! He has located a pharmacy/distributor in the United Kingdom called John Bell and Croyden. It is a pharmacy over a hundred years
old used by the royal family. They have their own importing/exporting department. The cost for a Chenofalk 100 capsule box is £55.20 (around $90) . This is almost twice what we were paying for it from Germany but that is not an issue, I am glad we can still get it.

There are a few requirements, one that the medication has to be shipped to a Doctor or Pharmacy. I'm not sure how to deal with that, maybe we can get them to allow the Dr. to just ship directly to our residences, we'll find out.

This is not the final solution as we know, and we are still going to pursue our goal of finding a long term solution to the medication issue, this does however buy us some much needed time to figure out the long term solution.

I have contacted Bo Allen at Rare Disease therapeutics to see what impact if any, that this new development has had on the talks with the Falk foundation about getting it from Germany. It's not known at this time how long we'll be able to order from the UK, our hope is until the medication is no longer available, but as we've seen there are no guarantees.

Until the next update..

August 14th, 2005

Angie did some research into what the costs and process is to start a non profit to raise funds for coming up with a long term solution to providing the medication, including obtaining and filling out a fair amount of the paperwork. It costs about $500 to submit, which isn't too bad.

We would like to be affiliated somehow with the ULF as we fell it is a good place to start but is a foundation focused on the Leukodystrophies as a whole and not on CTX itself. While this is good, we fell that we need a concerted focus on CTX in order to achieve our goals of:

• Raising the money to get an FDA approval for CTX medication
• Raising awareness of the disease amongst medical professionals
• Raising awareness in the public on the symptoms to be wary of
• Being able to lead to early and accurate diagnosis
• To provide for at the very least, optional screening for new parents for themselves as well as their children
• Determine how many people go undiagnosed and put into a different category based on the symptoms when looked at from focus solely on the symptoms by themselves

Something else to think about when dealing with CTX is the costs of the above items from a financial standpoint. We also need to communicate those costs as compared to what it costs to care for someone who is serously affected from the medication for treatment of mental health problems, to physical health problems be it related to mobility and circulatory/heart problems.

I would bet that the long term cost of the treatment for these symptoms far outweighs those costs for someone who is caught and treated early though I have no evidence to back this up, logic would seem to indicate that this is the case.

Until the next update..

August 13th, 2005

Tom, a member of the yahoo group made a posting today about an article he had come across in the Journal and Courier, a paper out of Lafayette, Indiana. The article is written by Kevin Cullen and is about a family in Lafayette that has a Son with CTX. The article is from June 2003 and details the trouble that a family had with getting the medication. They ended up contacting their congressmen who got Vice President Dick Cheney involved. It wasn't long before they were getting their medication again.

Through the power of the internet, I managed to contact the Father in the article and asked him if he was aware of the issues that we've been going through. He said he was and was fully supportive of our efforts in tracking down a source for the medication. He signed up on the Yahoo board as well.

Here's a list of folks that we've contacted over the last week in regards to obtaining the medication

Janet at the ULF - Including registering ourselves as family to contact
Jim Bona at the FDA
Bo Allen at Rare Disease Therapeutics
Kevin Cullen at Journal and Courier
Ken Setchell(A Dr. at Cincinnati Children's Hospital Center who
recently diagnosed 3 siblings with CTX)
Dr. Connor at Oregon Health Sciences University
Dr. Salen
Dr. George Anadiotis(Our genetic specialist)
Our local newspaper
The Vice President
60 Minutes
The Oprah Winfrey Show
Dr. Phil
Our state reps.

We haven't heard anything back yet but hope to soon.

Until the next update..

August 12th, 2005

Myself and Angie both talked to Bo Allen at Rare Disease Therapeutics today and he had a fair amount of information for us. The rundown in regards to the Falk foundation providing this drug and the whole insurance problem amounts to that Falk foundation will back the policy up in the case of a lawsuit if it is a result of treatment with Chenofalk for gallstones, not when it used as a treatment for CTX, this puts these pharmacies at huge risk.

The insurance policy is prohibitively expensive, Bo said that RTX cannot carry it, they can't afford it. He said one of the proposals to the Falk foundation is a waiver scenario that we would all need to sign to absolve Falk/Ludwigs-Apotheke of any liability with the drug. If that happens, he will have RTX's lawyers draw this waiver up for us. That is where it stands at this point. He did say that they will not let us go without this medication that they will do whatever it takes to get it here to us. He mentioned that Dr. Salen has some that could help to keep us supplied with it while this hurdle is overcome.

He did say that he is certain that the Falk foundation will not make this drug forever, which I have had in the back of my mind for some time. He figures we can get another 1-3 years of medication from them at which point we will have had to come up with an alternative. He mentioned that he is
in discussions with Dr. Salen to compile the findings of the research and start down the path of getting an IND(Investigational New Drug) for CTX. He said the process would likely be that of copying what Chenofalk is and classifying it as a new drug, conducting trials with it as compared to using Chenofalk, etc. This would ultimately result in it's being available in a pharmacy under a regular prescription and eliminate all of the issues in dealing with drug imports. It's an expensive laborious process not without it's challenges but he figures that the only way to guarantee future availability of treatment is to go down this path.

He did mention Jim Bona at the FDA as well as a John Mccormick, saying they are good people and are fighting to get a solution to this problem.

Some other information that I got from him was that a Dr. Ken Setchell at the Cincinnati Children's Hospital Center recently diagnosed 3 siblings that were under the age of 5 with CTX. I am going to send Dr. Setchell an invite to the yahoo board in hopes to foster some interest and buzz in the medical community around CTX and the treatment problems that we face, I will also encourage him to invite the parents to join as well so that they can communicate with some folks that are
dealing with this.

Again in my quest for numbers I asked Bo if he had figures on CTX affected patients, he said they have about 50 people who take Chenofalk in the US and Canada.

Bo and I also talked about lack of early screening and some other general rare disease topics. I feel that these are discussions that we should all have after we get through this current issue.

Angie and I have been talking a lot about this and we want to go public with this
issue, meaning big media. We feel that it might help garner the support that we would need to get something going in regards to getting a treatment approved and manufactured in the US.

Until the next update..

August 11th, 2005

Angie got the information from the individual at the FDA. I can't say that I am tremendously encouraged by the information.

I read it over and visited some of the links. What I take away from is is that the Enforcement Discretion Stephanie refers to is essentially what we already have in place that entitles us to import the 3 month dosages. I am not sure if Angie misunderstood what she said in their phone conversation or what but we are going to contact Stephanie again and get clarification on how what is provided in her information differs from the conversation she had with Angie. Either way, it's a point of communication that we can possibly utilize to our advantage.

Today Angie spoke to a couple of people. One is Kent Richter, the gentleman in Florida who's wife is affected by CTX. He was a wealth of information. I'll try to cover the high points of the conversation.

He said that German pharmacies will not honor a US prescription, you have to see a German doctor to be able to get Chenofalk from a German pharmacy. This derails having the option of making a contact in German to send us the medication.

CDCA is used in the agricultural industry in the US and can be imported in raw form for such applications. Kent has imported a Kilogram of agricultural grade CDCA in the past however he said that this has become increasingly difficult, my guess is because of 9/11.

Kent knows of a Dr. in Boston who recently diagnosed a 10 year old child . We are going to try to get in touch with this Dr. to see if he has any ideas on how we can proceed here.

Also today, Angie spoke to Janet at the ULF. They had a good conversation. She was helpful and provided the name and number of a Jim Bona at the FDA. He is highly regarded as someone who can get something done. I have contacted Janet and will likely become more involved in the ULF in the near future. I encourage all of you who aren't members to sign up asap.

Lastly, Angie spoke to Jim today and got some good news and some not so good news. First we were glad to know that Jim has 20-30 people in his office ONLY working on this issue, he said he has been living,eating,sleeping, and breathing this issue this week, so know that we have friends at the FDA who are pulling for us.

Now for the not so good news, and I didn't know this until now. It seems that Ursula Falk, the wife of the founder of the Falk foundation is the one who is behind this whole problem, it's not the insurance with the pharmacies, it's that the Falk foundation doesn't want to deal with the distribution issues anymore. Jim mentioned that Ron Leonardi from Rare Disease is meeting with Ursula this week, maybe even today to discuss this to see if she is willing to cooperate. She
may say no then we are dealing with a much larger issue.

When Angie mentioned the possibility of obtaining agricultural grade CDCA and getting it mixed ourselves Jim highly discouraged it saying that it's not designated for human consumption and should not be used in this way.

Jim did mention that he is in talks with various universities, several of which have the ability to make and/or mix chemical compounds for research purposes and will let us know the results of those conversations as they bear good information.

Until the next update..

August 10th, 2005

I spoke Karin at Falk foundation last night. I asked her numerous questions, I'll try to post the responses as best my memory serves.

First some general info I found out:

1.) A prescription is required to get the medication.
2.) To Karin's knowledge, we are able to send a prescription for a
patient stateside and any German resident can redeem the prescription
and get the medication.

Now for the questions I asked and her responses :

1.) Is it possible to get a years worth of medication with a single
prescription?

Yes, she believes that it's possible, she knows of European patients who have gone on 3-4 month vacations and needed medication for that period and were able to get it.

I think that we being in the US would have a problem getting that much medication through US customs though because of the 3 month import restriction. We may be able to creatively get around this by sending individual packages to ourselves, though I'm not sure how US customs
would handle it.

For some background on the next questions, Angie spoke to our Genetic Specialist, Dr. George Anadiotis, that we worked with in cooperation with Dr. Salen, to get my daughters diagnosis about this issue with the medication, they had a few possible ideas on getting this medication.

One idea was to see if the pharmacy at the hospital where Dr. Anadiotis works would be willing to take on importing the medication from the Farma foundation. Karin said she didn't know if there would be anything limiting this happening but it would be at the call of the pharmacy as to whether they wanted to take on the liability of distributing this drug.

Another idea was for Dr. Anadiotis to write himself a research grant and obtain the medication under the guise of the research. Karin also said that she thinks that is a possiblity. Again she can't say for sure as I think some of this is uncharted territory.

Dr. Anadiotis is attending a Symposium( http://www.ssiem2005.com/ ) in Paris that is being hosted by the SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM( http://www.ssiem.org.uk/ ) and had wanted to know if anyone from the Falk foundation would be attending. Karin didn't know but she said she would find out.

I pressed Karin more about the whole insurance thing. Without having in depth knowledge of the import regulations in the United States, she answered the questions as best she could but was under the impression that the insurance was not a requirement to export to the US but most,
if not all European pharmacies will not export to the US without this insurance coverage, which is a result of our litigious society. She said that the insurance is very expensive and it is difficult to find
an agency who will offer such a policy which is at the heart of this dilemma.

She did clarify that the management of Falk will be speaking with the management at Rare Disease Therapeutics this week to try to work out an arrangement to get the medication to us.

Something else that she said that was interesting is that she believes there is around 200 individuals in the US with this disease, 60 of which were getting the medication through Rare Disease Therapeutics. My guess is those 60 are the ones that were in Salen's study. What Angie and I wonder is what about the other 140 people? How do they get their medication? Do they not get any medication? We wonder if there are others(Doctors, Patients, etc.) who might have more/better information than we do.

I have pressed Dr. Salen numerous times to get the contact information for those individuals in the study so that we can contact them and get some numbers behind this disease, I think it can only help in getting more visibility around this disease and is essential in effecting some change in getting restrictions eased for people like us. It seems like there is some legal reason for him not providing that info at this time.

I will be speaking with Dr. Sonja Connor later today to see if he has any ideas about how we can proceed and to see how this change has affected the continuation of his study. He is currently conducting a clinical trial( http://www.clinicaltrials.gov/ct/show/NCT00004346 ) in at OHSU(Oregon Health Sciences University) for CTX and the effects of cholesterol lowering drugs in combination with CDCA.

Also, Angie today spokewith the opthalmologist who performed by daughters cataract surgery. Back before her diagnosis, he did some research on his own and in the process made contact with some other opthalmologists who had heard of CTX and is going to see if they might have some more information such as doctors we could contact to get information of other patients and
start to grow this effort.

Angie also talked to Stephanie at the FDA. Of course she did not know the details of what's going on so doing her best Angie filled her in on the situation.

After some discussion, Stephanie mentioned that this may qualify under something that is called Enforcement Discretion, which boils down to there are certain rules(3 month import restriction,
insurance, etc.) that can be circumvented in certain cases and based on her knowledge and what Angie told her, we have a good chance of qualifying for. Some of the options available under the guise of this Enforcement Discretion are allowing a pharmacy, or pharmacies in the US to carry this drug and/or being able to import large quantities of this medication.

That is the gist of what we know at this point. Stephanie is going to send via e- mail a packet of information about this clause.

I did find some interesting information on the FDA list of orphan drugs. In my previous research of this disorder have stumbled across Chenodiol and/or Chenix when seeking out medication information. As I understand it, this medication is equivalent to Chenofalk, it is a Chenodeoxycholic Acid. I am not sure if it's chemical makeup is identical to that of Chenofalk or not. Orphan drugs require a sponsor to be approved for US distribution. The sponsor for Chenofalk is of course the Falk foundation in Freiburg. The sponsor for Chenix is a company called Solvay that is in Marietta, Georgia.

It might be worthwhile to investigate Chenix and if it could be used as a valid substitute for Chenofalk and whether or not Solvay can somehow provide it to us.

Until the next update...

August 9th, 2005

Angie spoke to Jennifer at Internationale Ludwigs-Apotheke last night and the 3 month limit is
still imposed as it is a customs restriction. With what we have plus the new supply we will only have enough medication for maybe through January of '06. She did tell us that the insurance that is the issue here is a protection mechanism, in order to protect themselves from a lawsuit in the United States. This policy recently ran out and is prohibitively expensive, and difficult to find an agency to carry such a policy. Because of this they are not willing to absorb the cost for only 50 patients in the US and Canada who take this medication. This is understandable from a business perspective, however it leaves those of us that need this medication with no alternative, which as we know has serious consequences.

After the conversation with Jennifer, Angie spoke with Karin at Falk foundation, the manufacturer of CDCA.. She said in that the Falk foundation is in contact with other European pharmacies to see if they would be willing to take over the distribution of the medication to the US. She doesn't seem to optimistic as the insurance regulations seem to be difficult and/or expensive to obtain that most pharmacies wouldn't touch it with a 10' pole. She is also in contact with a company in the US, I'm not sure if she said the name or not but my wife thinks it is probably Rare Disease Therapeutics, the company that was bringing the medication into the US for Dr. Salen's study before all of this mess.

She said the drug sits on the shelves of nearly every pharmacy in Germany and that if we knew personally, someone in Germany that they could send it to us as they are not bound by the same restrictive regulations that pharmacies are. The issue is not that they can't ship to the US, it's the insurance required to do so that's at issue here.

I have sent Dr. Salen an e-mail with numerous questions, and again, requested the contact information of the patients in his study. I feel that the importance of showing some strength in numbers is very real at this point could be instrumental in getting something done to be able to get this drug without traveling to Germany.

We have begun to contact various individuals at Rare Disease Therapeutics, the United Leukodystrophy Foundation, and the FDA. It's too early yet to tell how things are going to proceed but we will keep the news updated as we get more of it.

August 8th, 2005

We got some very bad news today. Internationale Ludwigs-Apotheke, the pharmacy in Germany that has been providing the medication to us since the premature conclusion of Dr. Salen's study sent us an e-mail today saying that due to insurance regulations that they will no longer be able to provide the medication to us. We don't know what this means yet. The e-mail said they will take one more order so that we can 'stock up'. As it is we have only been able to order a maximum of 3 months worth due to US customs regulations. I hope we can order more than that.

June 2005

Another new member joined the Yahoo group today. It seems some people are finding this group. This is encouraging. Ashley continues to gain weight, up to 105 lbs.

February 2005

Ashley had her first follow up EEG and the results are very promising. They tried to induce a siezure and were unable to, this is great news and is a clear indication of the medication having a positive result.

She continues to gain weight. She now weighs 95 lbs up from 70 lbs at diagnosis.

December 17th, 2004

We got some bad news today. Due to changes in international drug import regulations, Rare Disease Therapeutics, the company in Tennessee that has been providing the medication for Dr. Salen's study is no longer able to provide the medication to us for the study. This will bring a close to the study and is another roadblock in getting fda approval for CDCA as a treatment for CTX.

We are now to begin getting the medication directly from Internationale Ludwigs-Apotheke, the pharmacy in Germany that distributes CDCA to the United States. Thankfully we don't have to travel to do this, we only need to send the prescription to the pharmacy and the credit card info to order the medication. This is a small bump in the road, maybe it's time to learn German :)

Ashley continues to gain weight and is looking better than she ever has.

August 2004

We noticed that Ashley is putting on weight, to us this is a good sign, in retrospective, she was thinner than she should have been, she is now getting much of the nutrients that she was previously lacking. This is a positive sign.

June 2004

Ashley had cataract surgery and is seeing better than she has in a long time, she makes comments as to how clear her vision is. We are very happy with the results. Dr. Bock is the man.

May 2004

Ashley begins CDCA(Chenodeoxycholic Acid) therapy. We are anxious to see the results.

April 2004

Ashley was diagnosed with Cerebrotendinous Xanthomatosis, see the story leading up to diagnosis here. After a lot of searching on the internet for support groups or just people who know about CTX, I put the right combination of search words to find a yahoo health group formed by an individual who's wife has CTX. There are 3 members now to give you an idea of the obscurity of this disease. You can find it here.