Mission of the CPT 2 deficiency association

 

  1. Welcome aboard!
  2. Mission - what does the CPT 2 deficiency association aim to do for you?
  3. Who is running the CPT 2 deficiency association?

 

 

 

Welcome aboard!

If you are suffering from CPT 2 deficiency, you are not the only patient in the world, but you probably won't find a disease that has so little registered patients. In 1995, approximately 120 cases had been described - worldwide!

However, those scientists that are working on the problem of CPT 2 deficiency and other forms of muscle problems are suspecting that these types of diseases are vastly underdiagnosed.

This site can help you get in touch with others who are in the same predicament. There are so few diagnosed CPT 2 deficiency patients in the world that it is logical and essential that patients support and help each other. Considering that there is so little knowledge about this disease, it is common for patients to be misunderstood by medical staff, who in general are not familiar with it at all.

This website is made for CPT 2 deficient patients, and to hopefully make a positive contribution to their lives, by providing a platform for supplying information on how to restrict the negative effects as much as possible.
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Mission - what does the CPT 2 deficiency association aim to do for you?

The goal of the CPT 2 deficiency association is to reach as many CPT 2 deficient patients as possible, and get them to register with the association, so that effective communication between the association and its members, as well as between members, will become possible. The most effective means to facilitate this goal is, in our view, by deploying this website.

For example, this website facilitates the discussion between CPT 2 deficiency patients through a member forum. Furthermore, the association hopes that members will participate in various surveys, aiming to collect information on a variety of subjects, such as the triggers which can set off an attack, and treatment suggestions for attacks.

The association will furthermore be approaching the medical community, specifically those scientists who are working on the problem. The feedback from the member surveys, which will of course be processed so as to ensure member anonimity, can provide them with valuable clues about the treatment of this disease. The CPT 2 deficiency association will also approach these scientists, with the aim that they join the CPT 2 patients' discussion forum on a regular basis, hopefully giving patients more advice and clues on how to handle life with this disease.

The ultimate mission of this organization is to be of service to the CPT 2 deficient patient, and to improve and maximize their quality of life.


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Who is running the CPT 2 deficiency association?

At the moment, there are 2 people who are contributing their services towards the association.

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Drs. Maurice Nijssen, birth date 27-03-1970, is an individual who has been diagnosed as CPT 2 deficient since 1977 by Prof. Martin of the Academic hospital in Antwerp, Belgium. Besides CPT 2 deficiency, he also has diabetes mellitus (type I) since 1984.

In his lifespan, he has suffered 5 heavy attacks of muscle breakdown and related complications. His last attack, which was triggered by a influenza-induced pneumonia, was extremely critical, with CK levels elevated above 100,000 for 7 days, topping out at 526,000, resulting in kidney failure, artificial respiration and a host of other complications, causing a life-threatening situation..

 

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Frans Bakker MD is...
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