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

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( ) in Paris that is being hosted by the SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM( ) 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( ) 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.

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 seizure 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.