{"id":15,"date":"2015-08-03T00:00:00","date_gmt":"2015-08-03T00:00:00","guid":{"rendered":"https:\/\/cota1.wpengine.com\/cotaforteamjoseph\/2015\/08\/03\/what-is-danons-disease\/"},"modified":"2015-08-03T00:00:00","modified_gmt":"2015-08-03T00:00:00","slug":"what-is-danons-disease","status":"publish","type":"post","link":"https:\/\/cota.org\/cotaforteamjoseph\/2015\/08\/03\/what-is-danons-disease\/","title":{"rendered":"What Is Danon’s Disease?"},"content":{"rendered":"

As talked about before, Danon’s Disease is a mutation of the LAMP-2 gene.  It impacts all major muscles, but the heart first and foremost since it gets used the most.  At a cellular level, it doesn’t allow my cells to get rid of waste as normal people can.  This results in the cells getting larger and less usable…<\/p>\n

The doctors were able to diagnosis me as I was demonstrating hypertrophic cardiomyopathy (HCM – a thickening of my heart wall) and Wolff-Parkinson-White Syndrom (WPW – extra electrical connections between the upper and lower chambers of the heart).  Other people with it have other symptoms including pigment changes in their retinas and developmental delays.  Thankfully I don’t have either of those.<\/p>\n

Another interesting note is that the mutation only exists on my X-chromosome.  This means that if I was ever to father children, none of my boys would inherit it but all of my girls would.  I used to be opposed to genetically selecting the gender of children, but this is making me reconsider this.  It is such a severe disease, I don’t want anyone else to ever get it.<\/p>\n

The studies on Danon’s are very small – normally only including a handful of people.  It looks like there are only a few hundred cases diagnosed worldwide so far, though it is increasing as genetic testing didn’t start looking for it until this decade.  Females that have it are able to live more normal lives with it not impacting them until their 30’s.  Males see the impact in their teens and most don’t make it out of their teens.  Thankfully I survived my introduction to this disease and have a great chance of living much longer than my teenage years.<\/p>\n

\"Jersey\"<\/p>\n","protected":false},"excerpt":{"rendered":"

As talked about before, Danon’s Disease is a mutation of the LAMP-2 gene.  It impacts all major muscles, but the heart first and foremost since it gets used the most.  At a cellular level, it doesn’t allow my cells to get rid of waste as normal people can.  This results in the cells getting larger […]<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-15","post","type-post","status-publish","format-standard","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/cota.org\/cotaforteamjoseph\/wp-json\/wp\/v2\/posts\/15","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cota.org\/cotaforteamjoseph\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cota.org\/cotaforteamjoseph\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/cota.org\/cotaforteamjoseph\/wp-json\/wp\/v2\/comments?post=15"}],"version-history":[{"count":0,"href":"https:\/\/cota.org\/cotaforteamjoseph\/wp-json\/wp\/v2\/posts\/15\/revisions"}],"wp:attachment":[{"href":"https:\/\/cota.org\/cotaforteamjoseph\/wp-json\/wp\/v2\/media?parent=15"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}