chenodeoxycholic acid vs ursodeoxycholic acid in the treatment of CTX

the doctors know nothing in the uk and treat my mum as an unknown and my auntie was a guinee pig who died needlessly because of their lack of knowledge im sure i can help things be better for my Mum i just need more knowledge to try and stear the doctors !!! My Mum has cerebrotendinous xanthomatosis CTX and her sister also, said sister Gillian has just passed away due to complications with gall stone /gall bladder operation I believe as a direct result of CTX side effects. Anyway first question Medication is difficult to sorce for my mum being the only individual left in the United Kingdom with this dissorder.... can you advise...she has been transfered from chenodeoxycholic acid to ...ursodeoxycholic acid which i believe is wrong and wont treat mums CTX??? am i right and do you know how we can get cheno? as i heard the ULF took over the rights or something? and since then my mum seems to have been transfered onto urso which i think is probably no good??? if ULF have taken over right and distributions etc is this why, can we no longer get it in the UK because of this?
I would be interested in corresponding with others who have experiences with CTX sufferes and treatments as I i just need more knowledge to try and stear the doctors in the UK!!! Does anyone know what else we can do to help or improve things for my Mum and her CTX

By Hotsparks
Posted June 19, 2009 at 9:26 am
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Hi Avril,

I'm sorry you're having this difficulty with getting the medicine. As I understand it, you're right, the ursodeoxycholic acid won't help CTX. My husband recently got his prescription refilled through the pharmacy in London (a couple of months ago), so I'm not sure why you can't get it.

We haven't been notified yet about the change in source of medication, but I'll see what I can find out!

Shawn

By Avril
Posted June 19, 2009 at 5:34 pm
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did you mean London UK? Thanks let me know of anything you find out :-) so your husband has CTX and takes cheno... what dose and how often? What things hav you found helps his condition? Is his still mobile and talking? Mum is Gillian was unable to talk and in a wheelchair. Has he had any gallstone problems? headaches? eating or talking problems? sorry hope you dont mind sharing your experience i feel alone and grappling in the dark !

By Hotsparks
Posted June 20, 2009 at 12:56 pm
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Hi Avril,

I just heard back from John Wolf (he's on the board of the ULF and his daughter has CTX). The procedure for getting chenodeoxycholic acid has not changed yet (I think your doctor's just don't know how to get it and they don't want to go to the trouble).

You need to send a prescription to Devina Williams at John Bell & Croyden.
devina.williams@johnbellcroyden.co.uk
John Bell & Croyden
Business Sales Dept
50-54 Wigmore Street
London, W1U 2AU
United Kingdom

Telephone: 011-44-20-7935
Fax: 011-44-20-7935-9605

We usually send a scanned copy of the prescription for Chenofalk 250 mg 3 times per day to Devina with our address and credit card information. Be sure to include the quantity on the prescription. They come in boxes of 100 and our doctor usually writes for at least 3 months at a time.

Be sure to take the Chenofalk 3 times per day, not all at one time. The body cannot absorb that much cheno at one time and the other two pills would be wasted.

I'll talk to you soon!
Shawn

By Hotsparks
Posted June 20, 2009 at 4:30 pm
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Hi Avril,

I have a little longer to write, so now I'll tell you about our journey.

James is the youngest of 9 kids - 7 with the same mother and father. He is the only one with CTX.

When James was about 19 years old, he gradually started losing his balance and coordination. First, he found he could not run - he was walking fine, but he just couldn't run. He ran long distance track in high school, so this was really strange. However, he didn't have health insurance, so he ignored it. Then he started losing his balance (couldn't roller skate at his niece's 4th birthday party). He started developing enlargements on his achilles tendons. He had other, more urgent medical issues for a while, so he ignored these symptoms. We asked several doctors about the enlargements on his tendons, but they didn't seem concerned since they weren't painful.

Anyway, when James was about 27 we began pursuing the cause of James' imbalance and tendon enlargements. James was initially diagnosed with multiple sclerosis (incorrectly). Four years, seven doctors, and many treatments later he was diagnosed with CTX. The CTX was found when the orthopedic doctor biopsied the tendon enlargement and determined it was metabolic in nature. He sent James to an endocrinologist who had actually studied a CTX patient 10 years previously - she recognized it right away. At the time of his diagnosis, James was having severe trouble walking, falling often, breaking bones easily, and his memory was failing (I was afraid to leave him alone) - he was 31 years old. After James started taking the chenodeoxycholic acid, he gradually improved for about the first year. James has been taking the CDCA for 11 years. Now he can walk, although with much difficulty and an abnormal gait. He does use a scooter for long distances.

FYI, there was a time several years ago where we had trouble with the CDCA supply, and James would go for several weeks without medication. During those times he would get worse, and then get better again after restarting the medicine, although he would never get quite to the point he was before the medication disruption.

I'm sorry for the long post. I hope this helps you. Best of luck to you and your mother. I couldn't tell from your last message - is your mother confined to a wheelchair?

Take care,
Shawn

By Avril
Posted June 21, 2009 at 6:58 pm
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Thank you so much for your replies and please dont apologise for their length they have been so helpfull and informative and I am eternally grateful for help as it is so little and found few and far between !
I have spoken to Mum and we are going to confront the doctors and she is getting an appointment asap so we can get her back on Cheno asap! I stumbled across the fact they had changed her meds and they hadnt informed us they were going to do so and why they would do that so I am going to ask why !!!

Mum is walking, all be it with the classic abnormal gait , and has been fighting the deabilitating nature of the condition with the aid of a fitness instructor and strengthening mobility exercises to push the brain into using the nerve pathways as much as possible in as many different ways as possible in the hope that exercising the brain and the body muscles will help maintain her mobility and fitness longer. However her sister Gillian went through many of the stages you have experienced, the shuffling troubled walking and the falling.... leading to prolonged time sitting in a chair and fear of falling and ultimately a wheelchair due to muscle wasteage i believe, along the lines of use it or loose it i guess, although I imagine damage of the nerve passageways would be a significant contributary factor also. Gillian had trouble swallowing and eating and she began to have trouble talking... difficulties understanding the small noises that began to come out even though she would try to shout and strain hard to talk lead to us obtaining a litewriter machine for her to type out speach when we couldnt make out the words, but she was very slow and single fingered in typing so communication became stilted and slow, she was cared for in a care home as her parents are 86 and 92 and couldnt look after her in the wheelchair when she was none weightbareing and unable to feed, dress and so on. She had a very shy nature and never complained and didnt like to trouble people, in stark contrast to my mums fighting stuborn nature!! Sadly Gillian passed away recently partially due to complications with Gallstones and subsequent gallbladder removal opp going wrong leading to bile leaking into the gut causing septicemia blood poisoning although I am not convinced that there wasnt other things going on at the same time as she was showing symptoms of other brain nervous system problems and went into a coma like state so either septicemia shut the body down or brain damage shut the body down and she showed no signs of feeling pain no signs of distress she just slipped away almost as if sleeping.

Since then I have been deturmined to find out all i can, I know very little and want to help my mum all i can, during their growing up together everything seemed to happen to Gillian the little sister first followed a few years later by the same things or similar happening to Anne my mum, so that it was almost as if what happened to Gillian gave us the warning signs of what could happen to Anne so that we could fight against the progression more easily with Anne it seemed. But through experiencing what others go through we can learn and change and try and do things better so here I am asking and trying to find out everything i can about peoples treatments, monitoring tests, medications and experiences incase there are things Im not doing with Mum that we can or should be doing !

When i was younger I remember Mum being misdiagnosed too a few times, some sort of Paraplegia and then MS i think until finally they spotted Gillians tendons and realised what the sisters had. Since then the doctors have just seemed to play "guessy games" or ask us to almost diagnose stuff ourselves .. "we dont know anything about what youve got so you tell us sort of thing"!!!!! no one bothers to read the notes, look things up, or think medically, they just dont have the time, interest or cant be bothered!

Its my turn to apologise for the length of the post!!!! Thank you again for the valuable information and for sharing things about James. I didnt know about the dosages and the difficulty absorbing cheno if administered in one go and so on which is invaluable information that will hopefully make the world of difference for the future for Mum too and anything anyone knows and shares is alway a great help.

My heartfelt good wishes for you and your family,
Speak Soon
Avril.

By Hotsparks
Posted June 30, 2009 at 10:27 am
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Hi Avril,

I thought of one more thing. You may want to contact Dr. Gerry Salen - his e-mail address is salenge@umdnj.edu. He is the most knowledgeable about CTX in the US. Perhaps he could send you an explanation of why ursodeoxycholic acid doesn't work in CTX patients and/or how the chenodeoxycholic acid works and you could give that to your mothers' doctors. If your doctors have questions, they can contact him, too. I know James' doctor talks to Dr. Salen often (they've even done some research together). Dr. Salen is extremely nice and usually responds to e-mails timely. He is in his 70's so he's not actually at the hospital every day, I think, so it may be a day or two before you get a response.

Good luck!
Shawn

By Avril
Posted July 1, 2009 at 3:48 pm
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what a fabulous resourse to be able to simply email a medical specialist on this to get an answer to a specific question, you are an absolute star !!! It apears Mum may have been taken off CDCA and put on UDCD due to CDCA being withdrawn from the NHS prescription schedule which we were not informed of nor given a choice about at the time when we could have corrected it immediately instead of damaging time passing!!! Why do they not think these things are important!!! Im so angry with myself for not noticing sooner too and I dont know how much my mum may need to pay to get her medication and it is taking time to find out as the GP wont help and has refered her to a specialist in the hope they can do something so lets see how long before we hear from them.... Meanwhile its the inner damage going unseen and unmonitored that worries me !!!

By Hotsparks
Posted July 1, 2009 at 4:49 pm
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Hi Avril,

Just FYI, the medication (Chenofalk) is not terribly expensive (at least right now), especially since you shouldn't have to worry about exchange rates. I would think Devina at John, Bell & Croyden should be able to give you a price, even if you don't yet have a prescription.

I know how you feel - helpless while more and more damage is being done!

If you ever want to e-mail me directly, you are welcome to anytime at lauriefamily@charter.net.

I will keep you and your family in my prayers, that your mom will be able to get in to the specialist quickly and get the correct prescription!

Take care,
Shawn

By Avril
Posted July 1, 2009 at 5:26 pm
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Thank you, I wish your family all the best and hope James is having more good days than bad. I am emailing Dr Salen as we speak so long as my email provider doesnt crash and loose my draft email again aargh ! The thunder and lightening hear are putting gremlins in the works i think !

By Avril
Posted August 13, 2009 at 3:17 pm
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Well thanks to everyone for your help I have finally got Mum on the right medication for her CTX she is finally on the Chenodeoxycholic acid, however she seems to be deteriorating still at present probably due to her wrongly being on the ursodeoxycholic acid for so long !! She is tiring quickly, hessitating with speech, her gait is more unsteady and faultering and her stomach seems to be dialated she doesnt feel hungry and has put on 10 pounds in weight even though she is eating less and her bowel movements seem to have slowed to going once every third day (not the best subject to talk about but as its all about metabolic synthesis names biosynthesis it seems relivant) I cant put my finger on what to do or what is happening to my mum and i am struggling to understand can anyone help has anyone seen these things happening? and what did you do

By JWolf
Posted August 27, 2009 at 3:12 pm
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Hi Avril,

Ashley put on weight when she started the medication as well. I believe it's because when CTX is untreated that digestion and absorption of fat/nutrients is affected. Once the cheno is regulated in the body then the affected individual starts to get all of the benefits of food, the fat included. For Ashley, before she got diagnosed she had to eat all the time just to stay skinny and once she started the medication, that habit of eating all the time stayed with her. She is a healthy weight now and looks so much better than she did before the diagnosis.

It should level off with your mother at some point so I wouldn't worry too much about that. Different people react differently to starting cheno treatment. Ashley was pretty fortunate for it to not really affect her much.

I hope she begins to do better.

-John

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