Author Topic: ATTR amyloidosis  (Read 17672 times)

georgeturner

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ATTR amyloidosis
« on: February 04, 2015, 05:44:45 pm »
I have hereditary ATTR amyloidosis variant Transthyretin type Ser77Tyr. This was diagnosed at the NAC in May 2014.
 
While out walking in Glasgow I became breathless and dizzy and stumbled damaging my knee quite badly. I went to A&E at the Western Infirmary in Glasgow and when I explained what had happened I was given an ECG. When the results came back, I was asked when I'd had a heart attack. I was stunned, I'd never had any heart problems as far as I knew. However I was admitted overnight to hospital there and then. Next day I had an echo-cardiogram and the consultant told me he suspected I did have a heart problem and wanted me to have an angiogram and angioplasty(if required) to further his diagnosis. This showed no problem with the blood vessels, so I was now told I may have amyloidosis. I'd never heard of this so I was given a brief explanation and told not to look it up online as there were many types of amyloidosis. Next step was an MRI, which confirmed the consultant's suspicions. This was followed by a heart biopsy, which really scared me but was in fact quite straightforward. I was then discharged and referred to the NAC and told to stick to the 3 D's - Diuretics, Diet and Daily weights.

 All this in a couple of days. I was very fortunate this this was picked up so quickly as it could quite easily have been mis-diagnosed.

Amyloidosis was confirmed at the NAC. I have both Familial Amyloid Cardiomyopathy (FAC) and Familial Amyloid Polyneuropathy (FAP). I was offered the chance to take part in a phase 2 clinical trial. This phase has now finished and we are all waiting for the final results to be published. I have had no ill effects. Meanwhile I have started on a phase 2 extension for two years and the phase 3 trial is now underway. I hope this can stop or slow down the amyloidosis from progressing. At least there is now some hope for treatment.

It's great to have this forum and I hope we can all share our experiences of all forms of amyloidosis.
 
« Last Edit: February 05, 2015, 07:55:38 am by Miriam Vered »
Slainte Mhath,
George

patpinchin

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Re: ATTR amyloidosis
« Reply #1 on: February 05, 2015, 09:35:01 am »
A frightening and dramatic experience George. Very encouraging to read that your local Drs were swift in their diagnosis and referral to the NAC. So pleased to hear you are taking part in extended phase 2 clinical trials and hope the outcomes of the completed phase are positive. With phase 3 underway, that must be a very good sign, hopefully leading to full licensing. Even better that you have suffered no ill effects. It sounds as if you are feeling well? The new treatments for your type of Amyloidosis certainly seem to offer promise and hope. Very best wishes.  :)
Pat

georgeturner

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  • Reason for joining: Patient Familial ATTR amyloidosis
  • Diagnosed: 13 May 2014
Re: ATTR amyloidosis
« Reply #2 on: February 05, 2015, 10:38:20 am »
Thank you Pat. Yes I'm feeling fine, I can still lead a fairly normal life, though my badminton and hill walking activities have had to stop (temporally I hope). The research work being done offers great hope for us all. Your story, knowledge, experience and that of others on the forum is inspiring. It has helped me and I'm sure many others learn and appreciate a little more about Amyloidosis in a positive way.
Slainte Mhath,
George

Mark McConway

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  • Diagnosed: March 2011
Re: ATTR amyloidosis
« Reply #3 on: February 06, 2015, 11:35:30 pm »
Hello George!  Nice to see you on the forum.  You might remember our last encounter in Glasgow during the summer, when my friend and I were cycling with Thirusha and David.

I'm pleased to see you're making progress and really hope this continues for you.  Best of luck!

patpinchin

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Re: ATTR amyloidosis
« Reply #4 on: February 08, 2015, 05:14:15 pm »
Pleased to "meet"you George and know that you are making good progress. I hope you wil be able to resume your favourite activities before long. Glad to know I have been a help in a small way. So wish there was something that could be done to help me. Hopefully the anti-SAP antibody drug? So nice to be acquainted with a Glaswegian.......very fond of the city as our son spent 4 years at university there. During that time we too came to love Glasgow and got to know your beautiful country and many of its friendly people quite well.  :)
Pat

patpinchin

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Re: ATTR amyloidosis
« Reply #5 on: February 08, 2015, 06:51:03 pm »
.......and Mark, I remember, Thruisha writing in her blog about that leg of the LEJOG ride and saying that what a friendly guy you are and that "you did not stop talking"!:)
Pat

Mark McConway

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  • Patient - AL Amyloidosis - Diagnosed 2011
  • Reason for joining: AL Amyloidosis Patient (Diagnosed at 47)
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Re: ATTR amyloidosis
« Reply #6 on: February 09, 2015, 08:24:17 am »
Haha Pat, You have a good - if somewhat selective - memory! 

patpinchin

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Re: ATTR amyloidosis
« Reply #7 on: February 09, 2015, 09:36:14 am »
I know we have never met Mark, but you are great to chat to! Perhaps one day......!  :)
Pat

georgeturner

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Re: ATTR amyloidosis
« Reply #8 on: February 09, 2015, 10:00:50 am »
Mark, I do remember our meeting well - regards to Tam. I still keep in touch with Gail, and yes Pat, I do remember Mark did like to talk.

I hope the anti-SAP antibody drug will prove effective. It looks promising and could be the answer for lots of us.

It would be good to hear from some others with ATTR amyloidosis and to see how they are doing if they are on the clinical trial.
Slainte Mhath,
George

georgeturner

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  • Diagnosed: 13 May 2014
Re: ATTR amyloidosis
« Reply #9 on: February 12, 2015, 11:59:10 pm »
I'm taking part in the Alnylam Trial for ATTR Cardiac Amylodosis.

I've posted their initial results for phase 2 below. The final phase 2 results should be out soon.

http://www.alnylam.com/capella/presentations/positive-initial-revusiran-phase-2-data/
Slainte Mhath,
George

georgeturner

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Re: ATTR amyloidosis
« Reply #10 on: March 16, 2015, 08:12:48 pm »
The complete results from the Phase 2 clinical trial of revusiran for the treatment of patients with Transthyretin Cardiac Amyloidosis are now available.

http://www.alnylam.com/web/assets/Revusiran-ACC-15Mar2015.pdf

I don't understand much of the data, but the knockdown rate looks very good with minor side effects. Any comments available from the doctors?

I'm now hoping for good things from the two year extension.
Slainte Mhath,
George

georgeturner

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  • Diagnosed: 13 May 2014
Re: ATTR amyloidosis
« Reply #11 on: April 29, 2015, 12:47:37 pm »
Does anyone else on the forum have ATTR amyloidosis, either hereditary or wild type? I'd like to know how things are for you.

I was diagnosed with hereditary ATTR amyloidosis about a year ago and have cardiomyopathy and polyneuropathy. Since starting on diuretics I have been pretty stable although I still have problems with breathlessness and with tingling and lack of sensation in my hands and legs. I would be interested in finding out how fast the disease progresses in other patients.

I've been on the Alnylam TTRSC phase 2 extension trial for about three months now. I've had no problems with the injections. I don't know if the trial drug is stopping/slowing the progression or if that's par for the course. The trial lasts for about two years, so it's still too early to know. When I asked at my last visit to the NAC, I was told there isn't enough data about the various types of ATTR Amyloidosis for them to give me an answer.

Still, so far, I'm happy that it's not getting any worse.
Slainte Mhath,
George

SAYARS

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Re: ATTR amyloidosis
« Reply #12 on: July 02, 2015, 09:53:21 pm »
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!

georgeturner

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  • Reason for joining: Patient Familial ATTR amyloidosis
  • Diagnosed: 13 May 2014
Re: ATTR amyloidosis
« Reply #13 on: July 03, 2015, 09:10:41 pm »
Hi SAYARS,

I am sorry to hear that your father is battling FAP, but it is good to know the heart/liver transplant has given him the opportunity for life. I wish him all the very best on celebrating his 70th birthday in June and hope he enjoys many more.

It's good that you are asymptomatic although testing positive. Hopefully it will remain that way for you. I'm happy to share any details of my story with you and it's good that you know the early symptoms to look out for.

I too have had very little contact with anyone having hereditary TTR amyloidosis, no one having SER77TYR.

I am 65 now and I was diagnosed in May 2014. That was the first I had ever heard of amyloidosis. I was very fortunate to be diagnosed so quickly as I had attended A&E with problems with my knee, but on hearing that I had stumbled and had been dizzy, I was given an ECG, echocardiogram and MRI. The cardiologist suspected amyloidosis, I had a heart biopsy and a quick referral to the NAC in London.

Looking back, my earliest symptoms were were carpal tunnel, right hand November 2004, left hand July 2006. I was a programmer working at a keyboard all day, so they suspected that caused the problems, but I only ever typed with one finger on my right hand.
In September 2009 I was diagnosed with late-onset exercise-induced asthma.
From November 2009 onwards, I've had Morton's neuralgia, tenosynovitis and De Quervain syndrome which I suspect were all related to amyloidosis.

Neither my brother nor my sister have been tested although my sister has inflammatory arthritis, and is considering being tested.

I suspect this has been passed down from my maternal grandmother who died aged 57 with rheumatoid arthritis and cardiac failure.

I played badminton three times a week and regularly went hillwalking right before being diagnosed. Early to mid-sixties seems to be about the time cardiomyopathy starts to cause problems with ankle swelling, breathlessness a few years earlier.

Early diagnosis seems to be key, but even some medical staff have little awareness of amyloidosis. There are clinical trials going on at the moment so hopefully we will be able to beat this in the near future.

I hope this has been of some help.
Slainte Mhath,
George

SAYARS

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  • Reason for joining: Daughter of Amyloidosis Transplant Survivor
  • Diagnosed: Father - 2009
Re: ATTR amyloidosis
« Reply #14 on: July 27, 2015, 02:40:08 am »
George,

My apologies for such a delayed response!

First, thank you for sharing your story and it's "nice" to connect to someone with the same exact gene mutation. Perhaps we are related in some way, as my heritage is a mix of UK, France, Ireland and the Netherlands.

Interesting! Perhaps there is a connection.

Second, I am glad that you got such a rapid diagnosis -- that's wonderful!

What are your plans in terms of going forward? Are there clinical trials (e.g., Tefamidis) in which you can participate in the UK? I know there are some trials here in the U.S., but my dad nor I qualify for essentially being at opposite ends of the "symptomatic spectrum".

I hope that you continue to feel well and I'm very hopeful about the powers of transplant and the gift of (extended) life that it can offer.

I'd love to stay in touch and I will keep you posted on my father.

I hope to see him in September.

All the best,
Stephanie