Hi George,
Do you mind if I ask your age now? And your age at the onset of what you suspect is the first "symptom"?
I ask because I have the EXACT genetic marker as you -- SER77TYR. I know of only ONE other person who has this exact variety here in the U.S. My family is American with British, French and Swiss roots.
I am about to turn 38 (in a few weeks) and I inherited this from my father, who currently battles FAP and received a double transplant (heart and liver) in October 2009 at the Mayo Clinic in MN in the U.S.
My Story: Once my father was diagnosed (took almost 2 years) and had received the transplants, I went through genetic testing and was positive. I have 2 older sisters, neither of whom have had the gene test. I am completely asymptomatic (that I know of), but I do monitor my health closely and am well-educated in the "documented" early onset symptoms associated with FAP. Plus, I have the "benefit" of a genetic pattern with my father and grandfather.
(NOTE: My dad's dad passed at 57 and it went on record as Cardiomyopathy -- at the time, no one knew or thought to look for Familial Amyloidosis, so death certificate states Cardiomyopathy). After a bunch of research by my dad once he was diagnosed, we now think it was my grandfather's mother (so, my great-grandmother) who passed it down to my grandfather > father > me.)
My Dad's Story: First symptoms were cardiac-related at about 62 years of age. He was quickly diagnosed with Cardiomyopathy by a local physician. However, there were suspicions that something else (bigger) was going on -- that's when it was almost another 1.5 years and several medical centers before Familial Amyloidosis was declared the primary condition. This diagnosis was at the Mayo Clinic in MN.
It was a rapid (in my opinion), steady health decline for my dad once diagnosed in that his heart's ejection fraction rate declined from the 40s down to the <10 in 1.5 years. He went through 2 pacemaker surgeries (the original insertion and then a 2nd due to "faulty wiring"). I don't have a lot of detail until we got to the point where he had a constant feed of Milrinone via a tube that was managed with a pump that he wore around in a fanny pack. Batteries were changed daily to be safe.
Once he "made it" to towards the top of the transplant waiting list(s) (plural because he needed BOTH a heart and a liver at the same time) then he and his 2nd wife moved up to MN to wait. They moved up there and lived in a long-term hotel type of place, arriving in April 2009 and then he was called for transplant surgery on October 22, 2009. So, at the time of transplants my dad was 64.
I could go into a lot of detail about the actual surgery, but perhaps another time!
His recovery was about 5 months in total IN the hospital and it was rough. I don't know if his recovery is "normal" but I also know that he had a few different complications throughout that process. Clearly, we are unimaginably grateful to the donor and the donor family and we count each day as an amazing opportunity for life!
I am happy to report that my dad just celebrated his 70th birthday in June!
The good: the organs are doing great! He has no problems with rejection and all signs are that his body accepted the organs really well!
The bad: the FAP damage had years to impact the body before the culprit (the liver) could be removed and allow the amyloid deposits to slow or cease. As a result, he now suffers from progressive FAP that began with the feet and has moved up his legs to about the knees; now in his hands and moving up his arms. He has quite a bit of GI disruption and discomfort and we believe there has been some impact to the kidneys.
His mental faculties seem strong (outside of what might be normal "aging" mentally) so the hard part for him is the changes in the body and lifestyle (e.g., now in wheelchair).
Looking back and knowing what we know now about Familial Amyloidosis, we think the FIRST symptoms was Carpel Tunnel Syndrome (surgery #1 to the left hand when my dad was in his 40s, surgery #2 to the right hand in his 50s).
SO.... my plan is to be on the lookout for symptoms of Carpel Tunnel Syndrome, as well as any cardiac changes. I've been advised that I shouldn't really be concerned until maybe I turn 40. But, you never know so I tend to stay pretty involved with the subject.
Sorry for the long post and thanks for listening. I'd really like to stay in touch and I support your journey -- very much hoping you remain healthy!
Feel free to write back or ask any questions -- I am a pretty open book about all of this because I want to help build awareness!