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what it feels like

amyloidosis: what it feels like

when anne marie carr was diagnosed in 2015, she was told most patients only survive three years. six years later, she's the founder and executive director of hereditary amyloidosis canada.

by emma jones

published jan 18, 2022

last updated feb 22, 2023

12 minute read

join the conversation

12 minute read

join the conversation

what it feels like: living with amyloidosis

in 2015, anne marie carr was told she only had three years left to live. supplied

anne marie carr says that when she found out she only had three years left to live in 2015, her thoughts immediately went to her granddaughter. carr wanted to be there for all the major milestones in her life, so to have a five-year long journey to a diagnosis end with this news was heartbreaking. amyloidosis is a rare disease where amyloid deposits — a clump of protein — builds up in internal organs. amyloid deposits can occur in the kidneys, spleen, liver, brain and many other organs throughout the body, which can build up and damage these organs over time. common symptoms include fatigue, unintentional weight loss, pins and needles in the extremities, and swelling.

there are five types of amyloidosis according to the mayo clinic: al amyloidosis (immunoglobulin light chain amyloidosis) is the most common and affects the heart, kidneys, liver and nerves; aa amyloidosis, or secondary amyloidosis can be brought on by an inflammatory disease, such as rheumatoid arthritis; hereditary amyloidosis, also known as familial amyloidosis, is inherited and affects the nerves, heart and kidneys; wild-type amyloidosis is diagnosed when a normal liver protein produces amyloid, generally affects men over 70 and typically targets the heart; and localized amyloidosis typically affects the bladder, skin, throat or lungs.

there are no estimates for how many people have each form of amyloidosis in canada, however, there are less than 200,000 people in the u.s. with this diagnosis and worldwide, it is estimated that 50,000 people have hereditary amyloidosis. because of the rare nature of this condition, it is difficult for most patients to get a proper diagnosis.

six years since carr, now 61, found out she has hereditary amyloidosis, she is now the founder and executive director of hereditary amyloidosis canada. carr shares her long journey to diagnosis, how treatments are making a difference for those with this rare disorder and why raising awareness is so important.

what led to your diagnosis?

there were lots of things, all over a period of five to six years. it was a combination of weight loss for no reason, breathing issues, feeling sick. often when i would try to eat, after a couple of mouthfuls, i would feel really full and [would have] extensive diarrhea. all of these things were put down to — for quite a number of couple of years, actually — to viruses going around. my doctor would say, oh, i had that virus as well. it’s just a virus, nothing to worry about.

eventually, i had to say to my gp that i thought these things were related. she sent me for blood work, and [when i came] back to see her for the results, she took my blood pressure. she [had done] that actually quite a few times, but the reading that day was 70 something over 40 and she just about had a fit — she called an ambulance and [i was taken] to the er, and that’s where we found out i had a heart issue, but no one could really diagnose why the heart was [behaving] the way it was.

one cardiologist, told me it was high blood pressure that caused damage to my heart. meanwhile, i’ve never experienced high blood pressure. if anything, i’ve always been on the lower side. in fact, if he had taken the time to look a bit closer, he would have seen that, even in the hospital, they refused to give me beta blockers because my blood pressure was so low — beta blockers actually lower blood pressure.

i was under his care for about two years and he kept on pushing the dosage [of beta blockers] higher and higher. eventually, i was feeling sicker and sicker. so i took it upon myself over a period of a couple of months to actually cut back on that medication. i didn’t come off it straight away, because i wasn’t sure if there would be a bad side effect, so i weaned myself off of it and my blood pressure increased — it didn’t go back to normal though by any stretch of the imagination. but i wasn’t having these crashes, as i called them, quite as often.

what goes through your head when you’re telling your doctor — for five, six years — that something’s wrong and you’re not getting a diagnosis?

i started to feel that i was making it up. [that since] nobody knows what’s wrong with me, it must be all in my head. all in all, i lost something like 55 pounds — i went from being about 160 pounds to 110 pounds. i’ve dropped another 10 pounds or so since then.

the gastroenterologist that i was seeing couldn’t figure [the weight loss] out [but] he was very sympathetic. he didn’t say to me it was all in my head, whereas that what i felt others were saying.

how do you go from no one being able to figure out what was wrong, to a rare disease diagnosis?

basically, it was a case of being sent to multiple specialists, gastroenterologist, and a cardiologist — there was also a neurologist involved, but that was after that was after we figured out what i had.

i had an echocardiogram, and the technician suspected amyloidosis because apparently, the way that amyloidosis attaches itself to the various organs, it actually lights up [on the scan] the damage to the heart is easy to see.

when [my gp] told me the diagnosis — hereditary amyloidosis — that was it. i was thinking, now what? he couldn’t give me any information — but in fairness, a gp wouldn’t know that because there’s over 7,000 rare diseases and no gp can be expected to know all of them.

so, of course, i went on the internet and it was shock after shock after shock because, basically, amyloidosis was a death sentence. when i asked the specialist that i eventually contacted, he basically said to me life expectancy is normally a year and a half to three years. that was six years ago, so i’m past my expiry date, if you will.

“the gastroenterologist that i was seeing couldn’t figure the weight loss out but he was very sympathetic,” anne marie carr says. getty

what goes through your head when you are researching your disease and seeing that there’s no cure?

the first thing i felt was just this horrible, horrible sadness. i’ve got a little granddaughter and i could think about was that i wasn’t going to see her grow up, or graduate high school. you think about all that’s been taken away from you. i also wanted to see my son in a good place, because he wasn’t in a good place at the time.

after the sadness came a little bit of resentment or anger, or a combination of the two. and then after that with the sadness again, so it was almost like peaks and valleys of alternating from sadness. and then the why did this have to happen to me?

eventually, i thought to myself, dust yourself off, pick yourself up and make something positive of all of this. by that time, i’d reached out to others and hooked up with a couple of people at the clinic who have the same as myself. they were quite a bit older than me and i think at that time i was the first female to be diagnosed with hereditary amyloidosis at that clinic. the cardiologist [there] hadn’t come across a female with it, especially at my age.

what about treatment options?

the treatment when i was diagnosed was basically symptom management and/or a heart and liver transplant. it was suggested that i have both, but because of my symptoms and my blood pressure, i was not a good candidate. i probably wouldn’t survive the anesthetic. when i read all the information with regards to what was involved for the heart transplant and the liver transplant, i did not want either.

the landscape has changed [since i was diagnosed].

if you have an early diagnosis of amyloidosis, it will be a good prognosis because of the treatments we have now in place. there’s no cure — and that may change in the next couple of years — but at least now we have treatments to stop further production of the amyloid deposits.

tell us what it feels like.

[the amyloid deposits] attach [themselves] to an organ or organs — unfortunately, in my case, it involved multiple organs. they also attached themselves to peripheral nerves, which means i have autonomic neuropathy (when the nerves that control involuntary bodily functions are damaged). i noticed that sometimes i would slip and fall when i was outside — i couldn’t figure out why i was doing it. what was happening was that the message wasn’t getting to my legs to actually move that limb, to take that step, and i was tripping over my feet. for example, we’ve got a couple of stairs [at our house] that i have to manage on a daily basis. the right leg seems to work okay for me, but i often have to lean on something and lift my leg onto the step. or, i will pick something up, and though i think i’ve got it, it falls out of my hand.

and then there’s going to the bathroom. you know how you know when you have to go because you get sensations in those regions, right? i don’t get those sensations. often what can happen is that i go from a sitting position to standing, and it’s like gravity’s taken over and i’ve got a good two seconds to make it to the bathroom. you can imagine if i don’t get there quickly enough — accident after accident. that’s one of the worst things because it affects dignity, your sense of pride, your well-being.

you’re on new medication?

correct. what [the medication] is supposed to do is target the liver and stop production of the amyloid deposits. i’ve got no way of knowing if it’s doing that — i’ve only been on it for about six or seven months, but i’ve had no major side effects to it, which is awesome. it may not cure it, but hopefully it stops progression.

are you still experiencing symptoms?

i’m not going to lie, i do get very, very tired. my husband puts it quite well, he says, i have bad weeks and good days. i just can’t do what i want to do. [that can be frustrating,] especially in terms of the work we’re doing with amyloidosis [canada]. at the moment, we are updating our website to include wild-type amyloidosis. we’ve also developed some patient support program education. it’s all been approved by medical experts. i just get frustrated, i don’t have enough energy to put as much into it as i would like.

human liver tissue with amyloidosis disease under a microscope. getty

tell me more about amyloidosis canada. how did that come about?

i was invited by one of the pharmaceutical companies a [patient-focused workshop] and they asked me if i wanted to head up a support network. and that’s where amyloidosis canada sprung from. once i got my head out of the physicality [of the disease], i thought: let’s see we can help other people.

that’s incredible that you’re doing all of this while also dealing with your diagnosis.

well, i think it’s really important going forward because if a person gets an early diagnosis, then their prognosis, in my opinion, could be very good. they could live almost a normal life. you know, if we catch it at the very beginning then those people will thrive and their life won’t be changed.

since the type of amyloidosis you have is hereditary, are you concerned about your son?

he wants to get tested. he’s just 35 next month. so for him right now, he still thinks he’s invincible. it’s up to him. some people want to [be tested] and others don’t. i honestly can’t think of a reason why you wouldn’t be tested — if you don’t want to find out for yourself, [you’d] want to find out about it for your [kids].

i’m the oldest of six kids. in my own family, i had three brothers — one passed away almost four years ago now, and in hindsight, i think he had this as well. i have another brother who was just diagnosed last year. the reason he got diagnosed was for his children and grandchildren. he’s not having a good time right now, but you can’t be expected to have a good time, right? my two sisters tested negative, which is excellent.

[one sister] in particular felt really, really guilty, but i told her that i was so glad she didn’t have this disease. plus, the buck stops with her — she doesn’t have to worry about her children or grandchildren. i wouldn’t wish this on my worst enemy to be quite honest with you.

what sorts of special considerations do you have to take in your daily life now?

well, anytime i’m going out i always have to think about how far it is and will i be able to make it there without any accidents. these days with covid, [it] is even more complicated because you can’t just stop at a tim horton’s or something and use the washroom. you have to be very well-prepared.

when i shop, i always use a trolley, even if it’s just for one or two items, because of the dropping issue. and i can’t carry anything that’s heavy. i currently weigh about 100 pounds, which is not really heavy, and i don’t have much strength. i limit my time doing chores as well. often i’ll get my husband to do that kind of thing for me.

simple things like dressing can also be a problem. i can be exhausted just getting [myself] dressed in the morning or just washing my hair. that sounds ridiculous. but its true, that’s how it affects you.

what was your family’s reaction when you told them this is what you’ve been diagnosed with?

i know my husband feels like the old me has been taken away from him. he feels he has been cheated by this disease, [it] has robbed him of the way i used to be, and the things that we used to do. but we can’t always think about the things that we can’t do. it’s better if we can think about the things that we can do — focus on the positives.

you have to make the best of it, otherwise you’re spending your time always in the past. and then going down that downward spiral. which is not a road to go down, because it doesn’t do any good. you can’t change it. why use the energy you have for something that you can do nothing about? that’s my philosophy with most things in life. i ask myself if i can change it, and if the answer if no, you know what, the hell with it.

that is an incredibly strong mindset.

it’s all that works for me. i can’t go the other way. i actually deliberately distance myself from people who are very negative, because that negativity is like a magnet and it can pull you down so quickly. i will not allow people to do that to me.

since we are talking about looking for the positives, what things in your life bring you joy?

i take joy in cooking and baking — although i cheat.what i mean is if i’m making bread or bagels, i’ll use my bread maker to do the kneading for me, because it’s hard for me to knead the bread the way i should. i just don’t have the strength.

i also really enjoy getting together with the colleagues who i’ve built relationships with over the last couple of years, in particular, some of the medical professionals. i really enjoy putting together pamphlets and programs together. i would enjoy it more if i had more energy. it gives me a certain amount of satisfaction because hopefully, it helps others. i’ve helped a lot of people shortcut all the b.s. and get them straight to where they need to be to get a quick diagnosis.

making a difference in people’s live gives me a lot of satisfaction.

readers interested in learning more can visit hereditary amyloidosis canada’s website and the amyloidosis foundation’s website.

what it feels like is a regular series that explores the experience of being diagnosed, treated and living with a health challenge. have a story to tell? email info@healthing.ca.

emma jones is a multimedia editor with healthing. you can reach her at emjones@postmedia.com or on twitter @jonesyjourn

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amyloidosis: what it feels like

when anne marie carr was diagnosed in 2015, she was told most patients only survive three years. six years later, she's the founder and executive director of hereditary amyloidosis canada.

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