Beta-Thal Minor with Carnitine palmitoyltransferase II deficiency

Hello everyone.

This is Sylvia from FerriScan. I recently have received an enquiry from a Polish patient who has been diagnosed with Beta-Thal minor, however, he too has another genetic disorder- Carnitine palmitoyltransferase II deficiency.

I wonder if you know of any one with similar diagnosis or a Polish support group whom I can refer/recommend him to?

I can sense his desperation for help over his emails. However, we have very limited resources and FerriScan is not available as a commercial service in Poland.

Your sharing is very much appreciated.

Thank you.

Yup, that's me who contacted you, Sylvia, if anyone in the forum had still any doubts 
Well, it has always been and it will always be a lone and desperate fight.

The prevalence of CPT II deficiency in Poland is fewer than 10 cases per 40 million people (40 million people live in Poland).
The prevalence of Beta Thallassemia is not much greater. A hundred cases maybe and most of them majors.
So (most of) doctors do not recognise these conditions and they have no idea how to treat them.
That's why I have to do everything on my own, often contradicting specific doctors orders (like: Your blood is quite OK, there is no need to get hemoglobin test, your microcytosis is idiopathic. But then the results came positive for beta thallassemia minor...)
Add to that a complete failure of Polish health services, and you have the full picture.
But I'll do what it gets to cure myself, i'll even go to the medical university.

My belief is that every effect has to have it's cause.
Like one MD Gregory House said, "idiopathic" means that the doctors are "idiots", and they can't figgure out the cause. Well, I agree with him, although I wouldn't express it in such a rude way.

Hopefully, I will overcome not knowing doctors, bureaucracy and Polish health services...
Then my aim will be to launch an informational campaign for people in Poland about metabolic diseases and make the government do something about these.

Sylvia, thank you for your interest in my case.

For the benefit of those who would like to understand a bit more about this disorder:

http://ghr.nlm.nih.gov/condition=carnitinepalmitoyltransferaseiideficiency

Carnitine palmitoyltransferase II deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy. People with this disorder have a faulty enzyme that disrupts carnitine's role in processing long-chain fatty acids...
The myopathic form is the most frequent and typically the least severe form of carnitine palmitoyltransferase II deficiency. It has a variable age of onset and is characterized by recurrent episodes of muscle pain (myalgia) and weakness. This condition is sometimes associated with the abnormal breakdown of an oxygen-binding muscle protein called myoglobin (myoglobinuria) or the breakdown of muscle tissue (rhabdomyolysis). Rarely, myoglobinuria can result in kidney failure.

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cpt2

Prevention of Primary Manifestations

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      Infusions of glucose during intercurrent infections to prevent catabolism
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      High-carbohydrate (70%) and low-fat (<20%) diet to provide fuel for glycolysis
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      Frequent meals and the avoidance of extended fasting
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      Avoidance of prolonged exercise

Prevention of Secondary Complications

The most important aim while treating an individual with CPT II deficiency is to prevent renal failure during an attack of rhabdomyolysis and myoglobinuria. Therefore, sufficient hydration and, if necessary, dialysis must be performed immediately when renal failure is imminent.

Bigg, hopefully this isn't something you will have to deal with but do you know if the doctors know what to do in a crisis?