By Today is national rare disease day, which gives me a great platform to explain and shed light in Amyloidosis. There are two types the one I have is genetic and called ATTR Hereditary Amyloidosis. There are at least 125 gene mutations and each mutation tends to hit certain organs first. Mine is Ala80 and hits the heart, and the least favorable one. My dad passed away from this 11 years ago and at that time there was no treatment options. Today we have 3 different drugs and 3 in clinical trials. Currently I am in heart failure with a “stiff” heart, Amyloidosis has also hit my stomach, nerves, and eyes.
In my non medical terms, everybody’s body makes protein, and when you have the HTTR gene the body makes the protein but it doesn’t fold correctly and it makes an Amyloid which is a long sticky sheeth. The protein goes into organs and helps them function, when Amyloid gets into the organ because its sticky it makes the organ hard and eventually it will stop working.
Is there a cure?
Right now there is not cure, Amyloidosis is debilitating progressive fatal disease.There are new treatments which can silence the gene and take it from a water facet running to a trickle.
It’s a horrible disease and I could stop there but what I have learned in the past year I have been dealing with it is Amyloidosis doesn’t write my story God does!
Today is national rare disease day, which gives me a great platform to explain and shed light in Amyloidosis. There are two types the one I have is genetic and called ATTR Hereditary Amyloidosis. There are at least 125 gene mutations and each mutation tends to hit certain organs first. Mine is Ala80 and hits the heart, and the least favorable one. My dad passed away from this 11 years ago and at that time there was no treatment options. Today we have 3 different drugs and 3 in clinical trials. Currently I am in heart failure with a “stiff” heart, Amyloidosis has also hit my stomach, nerves, and eyes.
In my non medical terms, everybody’s body makes protein, and when you have the HTTR gene the body makes the protein but it doesn’t fold correctly and it makes an Amyloid which is a long sticky sheeth. The protein goes into organs and helps them function, when Amyloid gets into the organ because its sticky it makes the organ hard and eventually it will stop working.
Is there a cure?
Right now there is not cure, Amyloidosis is debilitating progressive fatal disease.There are new treatments which can silence the gene and take it from a water facet running to a trickle.
It’s a horrible disease and I could stop there but what I have learned in the past year I have been dealing with it is Amyloidosis doesn’t write my story God does!
