MEDizzy
MEDizzy
Karen
Karenabout 6 years ago

Anyone an expert on Gaucher’s disease

535
Other commentsSign in to post comments. You don't have an account? Sign up now!
about 6 years ago

What do you want to know? I'm by no means an expert but I've been tested on it and I've read about it in my text books

about 6 years ago

If there's anything else you'd like to know specifically don't hesitate to ask, I'll do my best to present an adequate answer, but like I said, if it's type 1 there shouldn't be a reason to worry, so let's hope for that :) the doctors that diagnosed it definitely know which type it is.

about 6 years ago

I'll just put down some general information about gaucher as well in case you want to understand it if it's for any help. So basically it's an autosomal recessive disease, this means that it doesn't have high prevalence and is very rare. In order for it to be passed on you need 2 parents with the same recessive gene. This is however nothing you test for before you make a baby, it just comes down to really bad luck. There is a type of fat in the body called glucocerebroside which under physiological conditions is metabolised. When you have gaucher's disease you lack the means of degrading this fat (specific enzymes are degrading it) and this is why you need the enzyme supplements in order to keep it at bay. If you can't metabolise the fat then it will create fat deposits in and inside organs and eventually alter the function of them, mainly by destructively taking up space, compromising the actions of them. In type 1 the liver, blood, bones, and lungs are typically affected. In type 2 and 3 the nervous system is effected. Any disease where the nervous system is affected is generally really bad. It can cause seizures, linguistic damage, motoric damage etc. It can also affect brain functions, eye functions and literally anything that is connected to the nervous system, it just depends on where it manifests.

about 6 years ago

It’s type 2. Baby Hudson is 10 months. We are believing in a miracle. He is having the infusions once a week which is rough. Thanks for your response.

about 6 years ago

I see. I'm typically not a person that prays but I really really hope things will go well for him! <3

Recent MCQs















Show more MCQs

Recent flashcard sets















Show more flashcards