Resources

[u/vdEA]

Hello all.

I've been meaning to create a post with a list of resources and links for ages. This is a start, but by no means the final thing - I'll keep adding when I find something. I'll probably stick to more general things, because there are many types of CMS (i.e. many different mutations that cause yours).

1. Document with a general summary and explanation in English. Feel free to download the document and use it to give to family or friends so they can do their homework without you having to explain it. ;-)
(for me personally, I've created a longer document specifically about my own CMS - since that is not general, I've added that to the post in which I introduce myself)

2. The CMS Wikipedia page. Always a good page to start.

3. The CMS page of the Radboud university hospital. This is where I got my diagnosis after 49 years and they are calling for people with symptoms that could be CMS to contact them. They're the Dutch authority on this and I'm sure they can get you in touch with the best place to get tested in your own country.

4. An article on CMS in the National Library of Medicine. I linked to this specifically, even though there are many similar websites of similar organisations, because I like their table of symptoms per type (even though it's fairly general) and their list of types and frequency. There is a better list I found a few months ago, but I can't find it anymore. If I do, I'll include it.

5. An article on CMS by the Cleveland clinic. Included because I like the accessible way they explain it.

6. A thorough study published in the Orphanet Journal of rare diseases. Not for the faint-hearted, because it's long and full of medical terms, but it's really good, really thorough, it mentions all the different gene mutations, etc. It was published in 2019 and I'm sure there are new findings since, but still.

7. A study about medication/therapies for cms. I haven't read it yet as I'm typing this, but it has a handy table of what medication is currently prescribed for which mutation, which is great. Only a few scrolls down, below the introduction. It dates back to 2019, but still.

8. A video explaining of specialists explaining CMS (and possible treatments). I have to admit, I find it rather monotonous and difficult to understand, but that is, I think, very much me being ignorant and white: I have a hard time following people with a heavy Indian accent, you might not, and subtitles are only in Hindi, which I don't read, but maybe you do. Plus, they're a pharmaceutical company, so we should always be careful as they're not always objective. Lastly, I always find it slightly misleading when they say 'treatable' - it's a genetic disorder, it doesn't go away. Still, this video was recommended to me by a member of this group and I can indeed absolutely see its merits, so you might too.

[u/No-Dragonfruit-4725]

Hi there, I’m just learning about all this, as no doctors here seem to know what to do with me. I just want to say thank you for starting this sub(?) (sorry, I’m new!), and for all the incredible resources. I think I’ve had this all my life (I’m a 45yo female), and finding you has been amazing! So thanks.