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Arrhythmogenic Right Ventricular Cardiomyopathy with MYH6 and RBM20
Hi, I am just joining - I plan to move my care to Mayo next year but I currently live in a state with lacking rare disease and genetic cardiology care. I had a cardiac arrest in 2020 and was in a coma for 37 days and only had my genetic testing last year after I asked for it. My ARVC affects both ventricles and is progressing pretty fast. I do not see an ARVC group - so this is the closest I could find! I guess I just want to talk to people who know what it's like to go what I'm going through and have been through and what the future may look like.
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I actually have a phone call tomorrow with a patient navigator about that, and if needed I will have my doctors send the referall! I have a loooot of records due to being in a coma and having IBD for over 12 years so it'll be a bit of a proccess haha.
I cope by just telling myself there is a light at the end of the tunnel - I will eventually be somewhere I am taken care of, loved, and able to thrive! I also love school and reading and going outside so I use that as an outlet.
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2 Reactions@casscond, it is great to hear you have some outlets to "get away" from the stress of dealing with a chronic illness. I was born with a rage genetic bleeding disorder called Hemophilia (my blood doesn't clot on its own). As a result I dealt with a lot of physical trauma to my joints as a child and had end-stage arthritis by the time I was 8 in multiple lower body joints. Our diagnoses are not comparable, but dealing with complex medical conditions that others around you may not understand is. Finding an outlet to "unplug" from the daily grind of a medical issue can be hard but crucial.
It is good you have a phone consult. Before your call, perhaps it would helpful (if you haven't already) to make a list of questions you'd like to address - things like how to get a referral or appointment request and what is the best way to share a long list of medical records.
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1 ReactionHi @casscond,
@JustinMcClanahan is absolutely right! I hope your phone call goes well, or went well. It seems that when physicians are dealing with a new patient, they typically want the "bottom line" information...not every single lab, x-ray, progress note, nurses note etc. They like a neat and tidy summary. What happened. What caused it. How was it treated. How is the patient now. Volumes of records tend to get overlooked as they go for the discharge summary, history & physical, procedures, operative reports. Having those records will be helpful. Especially the Discharge Summary and History & Physical.
Thank goodness you love school and reading! Does anyone else in your family have this condition? Are you the first?
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1 ReactionI am actually the only person in my family to be diagnosed! My family is from a very poor area of the country and I am the first one to have a SCA. It was treated very atypically and the tests performed at the time were tox screens and STD panels - I had to ask for a genetic test years later when I began to learn more. I did not have the standard cardiac workup and have had to advocate for myself to have such because I had my cardiac arrest blamed on my gender identity/sexual orientation - part of why I want to move as well haha
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1 ReactionDo look at your family history for clues. Without formal documentation, there may be anecdotal evidence that other family members did, in fact have SCA.