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.

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.

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.

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.

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.