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Hearing from others
Brad’s Story: Living with Cold Agglutinin Disease
Brad, a rescue specialist with the Canadian Coast Guard, was diagnosed with CAD, changing his life in many ways.
Learn how Brad manages his symptoms and navigates life with a rare condition.
My name's Brad, I have primary CAD, Cold Agglutinin. I first started noticing symptoms of Cold Agglutinin—I didn't know it was Cold Agglutinin at the time—and I was a rescue specialist so we were out at sea and we went on a search and rescue call and we were pulling in the lines and my hands got so cold that it felt...it would have been more comfortable if somebody cut my fingers off. And after that trip, that call we did, I was just absolutely exhausted. I just had no energy, and I literally took the day off of work. So I went from 2011 to 2013 with just a barrage of tests. I have done 2 bone marrow, dozens and dozens of vials of blood, CT scans, MRIs; and in 2013, that's when I was diagnosed with primary CAD. I have had 2 strokes, minor strokes for me, which is very lucky. Being tired is one thing, being fatigued is taking tired 10 steps forward above that. Fatigue is something where you don't even want to get up out of bed, the fatigue is so much. If you were dragged behind a tractor and couldn't get up, that's the fatigue that we feel. That's how hard it is some days. This process goes on for years and years and years—this process will go on for the rest of my life, and that's where we need to educate people that this is not just a turn-on and turn-off situation. This will be with me for the rest of my life.
Sharon’s Story: Living with Cold Agglutinin Disease
Because CAD symptoms can be hard for others to see, Sharon’s condition took a back seat to other issues in her life.
Hear about her family’s support and the important role it plays in helping her manage her condition.
Sharon: It doesn’t snow here in Memphis, so when it does snow once a year, you go out and play in it, and so that’s what I did, went out and played in it with my kids, and I would come in and I’d shake my hands because they hurt really bad and I looked at them and they were blue, and then my feet were just numb. I couldn’t feel my feet…
My legs would hurt so much and it was mainly when I was cold.
I started seeking out different types of doctors…
Nobody could help me…until the day that I visited my rheumatologist -- they called me and they said, “You need to come in. We need to talk to you.”
“You have cold agglutinin disease,” and I said, “What’s that?” and he said, “As a matter of fact, I don’t even know what it is. I had to look it up.”
It was really scary because …they were rushing me off and telling me… “You have to go to the cancer clinic, and now you have to see an oncologist, and you have to see a haemotologist.
I called my husband from outside and I said, “I think I have cancer. I don’t know,” and...
I went to the oncologist and they did a lot of tests.
At the end I was told that I did have CAD and I did not have cancer, and so let’s go from there.
Life changed dramatically from the CAD diagnosis.
I was in the bed a lot, just exhausted.
My husband had to take over everything, and it was another difficult time in our life because he had open heart surgery.
So my son Paul, and Joshua, had to step in, and they mainly took care of me and my husband.
Paul: It was very stressful. It forced me to assume a role I don’t know if I was necessarily ready to assume; however, for the greater good of the family I decided that was what needed to be done.
Sharon: We were so consumed with my husband’s heart issues that I really played down the CAD. I felt very alone, and that it wasn’t worth even discussing.
Paul: That’s a big thing about the illness is you don’t necessarily see it, but they feel it. They’re experiencing all these things, but it just looks like they’re tired or don’t want to do stuff. Gaining research knowledge really helped me understand that, “Oh, mom’s not just not doing anything. She genuinely doesn’t have the energy due to certain haemoglobin levels.” You know, like I had an explanation for things and it made it a lot more clear.
Sharon: When I started learning more about CAD, I thought, “Oh, well, this is manageable”.
Acceptance is the main thing. That you can no longer do certain things. I have to reevaluate my life and do it this way now.
The best days are the best days, you’re feeling good, and you want to do everything.
You really learn to appreciate your life and you really learn to appreciate your good days.
Paul: Her getting out of the house is pretty indicative of she’s having a good day. When she has the energy to joke and play around and like do stuff, we’ll do that, you know? Her presence is more.
Sharon: There are online support groups that I’ve found on social media and I found that that gave me so much information, just from what they went through and their opinions or what to ask doctors.
My mother had kidney cancer for seven years. She was a very strong woman.
She taught us that you have no choice but to be strong.
You may have just had a really rotten day with this disease, but tomorrow’s always a new day and it will be a better day, and it always is another better day,
So...that’s how I roll.
Paul: She’s always been a fighter. She’s always been strong and this is nothing that she can’t overcome.
Sharon: Always have hope. You have to have hope. And that’s what gets you through it.
Fred’s Story: Living with Cold Agglutinin Disease
Despite moving to a warmer climate, Fred has continued to regularly battle symptoms related to his condition.
Hear about his journey through life since his CAD diagnosis, and how his strong self-advocacy has helped along the way.
I was living in Ohio and it was wintertime. One day I took my son to day care center, and the day care worker started getting agitated, and they said, “Somebody call the emergency.” I would look at him and say, “What’s the matter?” They said, “Don’t you know?” I said, “No.” They said, “You’re all blue.” I went that same day to my family doctor, and he didn’t know what it was. He sent me to a specialist at the University of Cincinnati, who did more tests, and they came back with a diagnosis of cold agglutinin disease. Before that moment, I had never heard the term or knew what it was or knew anything about it. They told me, “You basically have 2 choices. You can either take steroids or move to a warm, dry place.” I went home and told my spouse at the time what he said, and she said, “Okay, I guess we have to move.”
When I moved to Arizona, I continued to work and I found from experience, though, that no matter where I went, there was times when the environment would be cold, and it would trigger my condition. My feet would get very sore and very numb, and I wore wool socks, but that wasn’t enough. I found myself having difficulties being able to walk. Eventually, I got to the point where I felt that I, realistically, couldn’t work.
At that point, I went on disability. I was a very active person before I got CAD. I was just living a normal life. I had two kids. We lived in a home, lawns to mow, a job to go to, we went on vacations. Things that everyone pretty much does and you don’t think about it. It was frustrating when now, I had these new limits. Especially, you want to provide for your family and suddenly now, you’ve got these restrictions.
Then, the other problem with CAD is, you didn’t always know when you would be triggered. If I started to wash my hands when the water was really cold or if I’m cooking, which I love to do, I have to careful there because when you’re cooking, you tend to wash your hands and put your hands in the refrigerator or the freezer to get things. If you do too much of that, then your fingers start to turn blue. It does change your life in just about every way.
One of the doctors early on said that you have to be your own advocate, because the people around you know so little about it. The laboratories oftentimes don’t know how to treat my blood. They want to treat it like everybody else’s and you can’t. That’s a learning experience that I typically have to initiate and help them understand, and it doesn’t end. I’m not a person that talks about my emotions very much. I internalize them, and I just try to deal with it in a way that I’m not taking it out on other people.
Even though this condition is rare, and even though it has limits, I have, for the most part, been able to live a pretty normal life. Instead of giving up things totally, you just learn to do things differently, in a different way. One of the things that I’m proud of is, I got involved with being an advocate for members of homeowners’ associations. That’s been very important because it’s kept me busy, and it’s given me some goals, and it’s given me an opportunity to help people. I enjoy walking with the dogs. I love architecture. I still draw. I used to do that for a living, but now I do it more for pleasure. It gives me a chance to use my imagination.
Having this disease, actually, is not all bad because it’s taught me to appreciate life. It’s made me realize that there’s other people that have different problems than I have, and it’s helped me to be more empathetic towards them. I think that’s made me a better person.
Jörg’s Story: Living with Cold Agglutinin Disease
After experiencing pain and turning blue in cold weather, Jörg knew something was wrong. Learn how he and his family have adjusted to life after his diagnosis with CAD as they tell their story to raise awareness for this rare blood disorder.
Being outside was becoming a challenge because number one your feet are cold you cannot walk properly you have the pain and I feel that.
I start getting a headache that I feel unpleasant and I feel weak going out having fun with my friends.
Suddenly they turn around look at me and say York go inside you're turning blue.
The explanation I was given was very short and simple by my family doctor they told me yeah you've got a blood disorder it's called cold agglutinine disease.
The first question which came into my mind was yeah is there a cure for this ?
The practice reply was there is no real cure but what I can tell you is keep yourself warm. There are many things that I never did before that I have to do now; like the work outside the house, always making sure that there's an extra blanket in the car for example or that uh the car is fueled up so that we don't get
stranded somewhere and things like this that really take up much consideration and preparation.
Everything of course has an emotional aspect. You number one feel as if you lose worthiness, you're not worth as much as you used to be.
It's also a mental challenge you were the man of the house, you did all the repairs and you could do anything anybody asked you for you did it.
I've got an 87 year old mother I used to go shopping for her and I used to do lots of things. She realized oh I can't do this anymore, I cannot send him across the city to too many different stores because he will
Freeze. I'm very much afraid that it would, it could get worse you never know when something like this might happen. So, if he keeps or if there's an accident somehow and he stays for a longer time
in the cold then it's really dangerous and he died knows it's unimaginable.
Something like this knowing that this disease cannot be cured scares the hell out of me.
The most difficult part of my disease Journey was to find the right support.
The doctors I contacted, only a handful of them knew what this disease was all about. Awareness is something I wish be bigger.
What would I tell a person who has just been recently diagnosed with cold agglutinine disease ?
Go out, get yourself the knowledge and get yours get help by our groups by various groups, by doctors, by friends you will get support and we will all be here to make your life easier.
Henriette’s Story: Living with Cold Agglutinin Disease
Henriette shares her CAD diagnosis journey and how she’s navigating life one day at a time with this disruptive rare blood disorder.
I had to get very used to a new life. I had one life before I got sick, before I was diagnosed and my life now. I am Henriette. I am 60 years old. It was 2009, I was 47 years old at the time when I got sick. I had flu symptoms. I had a very yellow face color, yellow eyes. There were times that I actually felt pretty good and then I would swing my legs out of bed to get up and then I would sink through my legs. And then I would think: oh, it is one of those days. Okay, back to bed. And that has been so frustrating. That you had to go from someone who worked fulltime and did all kinds of things, to someone who just had to see what the day would be like and then make do with that.
Your life is turned upside down, it is completely different.
My disease is CAD, C-A-D.
One of the things in my life now, is that I always have to think about temperature.
For me cold is not only the temperature below freezing, but also the temperature around 10o Celsius (~50o Fahrenheit). The impact of my illness has on my family, on my friends, on my entire social network, is enormous. Everyone is watching you; everyone is concerned about you. But it also indicates that everyone worries about you.
When I was diagnosed in 2009, for a very long time I really thought: I have no idea of what is happening to me. I have no idea what this disease means. They also couldn’t really give me a very concrete handle on: “This is going to happen to you in the next few months. Or the next few years, or this is what you can expect. This is what your life is going to look like.”
No, every time it was: “Live day to day to see what that day is going to bring you.” And I had to learn that, because one of my personality traits is that I very much like to have control over things I am eager to know what the plans are for the time ahead, so that I can anticipate that a little bit. And I really had to let that go.
I still find that it is impossible to explain to people who don’t know it, what it is like to have a rare disease.
The moment someone says to you: “ You do not look sick, so you are not sick”, it is very frustrating.
I also thought for a very long time that I was the only patient in Netherlands who had this. There were just too few patients who could share their stories. And the people who do share it, all have their own story and their own journey.
I would really wany to say to them, do not lose heart. Keep hope and despite all the tests you are undergoing, all the existing uncertainty to keep going.
I do think it is very important to continue to gather as much information as possible about this disease. And a very large part of that information can only come from the patients. That will ensure that more and more will be known about this disease and about possible treatments And that will help everyone who is diagnosed as of now
Understanding CAD from a Multi-stakeholder Lens (from Rare Revolution)
Learn about CAD from this insightful discussion between Dr. Broome, Pat Watson – president of the CAD Foundation, German patient Jörg, facilitated by Rare Revolution Magazine. The topics covered include “What is CAD?” (Video 1), “Living with CAD” (Video 2), “Support Networks for CAD” (Video 3). For more information on Rare Revoluion and see an article featuring Jörg, please visit our Resources & Community page.
Hello and welcome to our ninth in the series of RARE REV-inars. I'm Nicola Miller creative
director at RARE Revolution Magazine and in the background, working on the tech today,
I'm joined by my colleague Becky Pender. We're thrilled to have so many of you register for today
and I would encourage you to take advantage of our great panel by using the Q&A to ask any questions
which we will get to at the end of the session. In today's session which is in partnership with
Sanofi we'll be talking with a multi-stakeholder lens about cold agglutinin disease (CAD) and I'm
pleased to be joined by a fantastic panel Professor Catherine Broome, who is board
certified in internal medicine, hematology and medical oncology. Pat Watson, expert patient and
president of The CAD Foundation and Jörg Freitag, expert patient and founder of a Facebook page
supporting families in German speaking countries. Hello all and welcome. Now I'd like to start these
sessions by going back briefly, so while the panel just join us, Professor Broome, Catherine, if I
can come to you first can you tell us what is CAD and how is it diagnosed? So cold agglutinin
disease is a rare autoimmune hemolytic anemia, so it is an autoimmune disease that is acquired.
It's generally diagnosed in the sixth, seventh or eighth decade of life, although we certainly
have seen it in patients much younger. It is comprised of two main symptom complexes,
one of them is anemia related to the homolysis, and that is manifested by fatigue, shortness of
breath, sleeplessness, irritability, muscle aches, joint aches etc., and then the other is the unique
thing about cold agglutinin disease are the symptoms that people experience when their
extremities or the rest of their body is exposed to cold temperatures, and that causes the antibody
in cold agglutinin disease which is IgM to drag together those red blood cells in a process called
agglutination and that can result in very cold extremities, fingers and toes in particular. tips
of nose and tips of ears can also be affected. They may change colour, they may become painful
and in severe cases actual death or dying of the tissue causing actual sores might occur. Gosh okay
and so thinking about, you mentioned this is something that tends to happen sort of later
in life. Can you talk to us a little bit about the importance of a timely diagnosis and the
impact of delaying a diagnosis? Sure so you know, this is one of those diseases where it is often
times difficult for a patient to get an accurate diagnosis. I think two things sometimes play into
that. Many of the symptoms that patients might go to their physician discussing are very vague or
also very common symptoms and so a lot of times it's difficult for physicians to put the pieces
together, to even think to order the correct testing from the laboratory. The other challenge
in cold agglutinin disease is that the laboratory specimens must be handled very carefully and very
specifically and they must be kept warm at all times prior to the laboratory testing or a falsely
negative result may come out. So many patients may get the right test but it may appear negative
because the specimen wasn't handled correctly and I think the importance of a timely diagnosis is
because once we have an accurate diagnosis of cold agglutinin disease, there are a variety of
lifestyle changes but also monitoring things and therapeutic interventions that may be appropriate
and recommended for a patient, but if we don't have a good diagnosis then we really can't know
exactly how we might help our patients best. Sure thank you, that's a really good overview there I
really appreciate that and Pat obviously you're based in the US can you talk us through your
diagnosis and what that journey was like for you? Well I had CAD few years before I was diagnosed,
it, there were various symptoms like Dr Broome said that the breathlessness that kind of thing
but it was, I could live with it, I just thought I was getting old, out of shape. That's a common
tendency for people to think so I did start kind of going downhill, more breathlessness,
rapid heartbeat that kind of thing as time went on and I finally got to the point where I was
just almost unable to walk and so I called my primary care doctor. went in. they put me in
the hospital and tried to get a good blood test and could not and then he sent me to,
I had a a couple of transfusions, came out dancing. I was I was fine the primary care
sent me to a gastro (*gastroenterologist) thinking I had internal bleeding and gastro
couldn't find anything, couldn't get a good blood test, sent me finally to a haematologist.
All of that took about three months and so the hematologist I was very lucky in that;
at that time it was, it's difficult today to get a good diagnosis but at that time it was incredibly
difficult and so I went to the hematologist and luckily he had seen a case of CAD in his residency
and so he kind of knew, he was a younger doctor, he remembered that and he tested, gave me the
correct test and and that's how I was diagnosed. A little bit of serendipity there in terms
of somebody that had come across this before, absolutely and that's very unusual. Can I ask how
long ago you were diagnosed? 2014. Okay fantastic and Jörg how does that differ from your experience
you know what's the diagnostic journey in in Europe and Germany look like and how does that
differ? Yeah of course I can only speak for myself yeah and it all started without me knowing that it
was cold agglutinin disease in 2009, around 2009 where I had difficulties changing tyres outside
in the cold and my boys had to help me. At the at the time they were 13 14 and my ears turned
blue and almost black and my hands couldn't work anymore and I didn't think much of it, saying okay
as Pat said you are getting old. I was at the end of my 40s then So but then it gradually got worse
until the year 2017 when I decided to go to my I say family doctor and told him that my pain is
so strong and that my skin turns so quickly blue and it turned quicker and quicker in to the blue
uh than years before, so it got worse so my family doctor then said "hm I don't know much about this,
but it sounds like and it looks like it has got something to do with your blood, so I'll send
you to a special specialized blood laboratory which I know in the area" so I went there and
they suspected originally bone marrow cancer so in the two weeks it took them to finally get to
the result that I had Cold agglutinin disease me and my wife and everybody close to me were really
worried and then yeah finally after two weeks, after the blood investigations we got to know,
yeah CAD, and then we all started to find out and to start finding out what CAD is all about. And
it's interesting that you both say that actually, you could easily mistake the symptoms for kind
of general sort of aging process, so obviously that's quite difficult for people to know when is
the right time to to seek that medical advice. So Catherine what are the red flags that health care
professionals should be looking at to make them aware of CAD? You know how do they differentiate
that from someone, perhaps coming, who's just you know feeling out of breath and maybe just
could be confused with just general aging? Yeah I think you know I think having a low threshold
for suspicion and I think you know remembering that yes, we do get a little bit deconditioned
or our lifestyles do change a bit as we do age but I think you know any significant changes in
how much you're able to do, how far you're able to walk and certainly you know the symptoms of
the painful color changing in your hands and your in your ears, all of those things would you know,
warrant I think a medical evaluation and you know from the standpoint of clinician/patient sort of
interactions, I think patients do unfortunately have to be their own advocates and I think if
you know are not feeling well and and you are not getting an answer to continue to ask the question
you know. I didn't feel this way one year ago you know something new is happening and as mentioned
by Pat you know a lot of times clinicians are very frustrated with cold agglutinin
disease because they can't get a good blood test reading and the laboratory might say to them "oh
the blood is clotted" or "you need to redraw the blood" and you know for clinicians that's one of
the first clues that you might be dealing with cold agglutinin in disease and that's a real
conversation between you and your laboratory to say "gee what can we do? We must you know,
try to keep this specimen warm, so that we can then get an accurate assessment of what might be
going on with regards to the hemoglobin level." So two things if I can just unpick a bit there:
first is with regard to the color changing so obviously the the pain and the fatigue could
you know very easily be confused with other things but color changing is quite a distinct
visual sort of symptom here. Does that happen at the onset of those earlier symptoms or is this
something that follows later? You know would that be presenting initially when you're getting that
first fatigue? So it unfortunately varies very widely from patient to patient how significant the
agglutination of those red blood cells is and it's really that agglutination that causes the color
changes so you know one patient like Jörg may have very significant color changes but another patient
may have mostly the homolysis or the destruction of the red blood cells and not very much or
honestly none at all of the agglutination or the color changes. So it is a disease that has a very
wide spectrum of symptoms that can go along, and those symptoms can change with the disease process
itself, but it is unfortunately not something we can say everyone is going to have these particular
signs or symptoms. Sure and the other thing I wanted to just touch on as you mentioned,
obviously, that the getting the blood test is quite a complicated part of this puzzle here
in terms of diagnosis, so because it's quite a specialist test would would I be right in
assuming that the the clinician has to have a good indication that this is the condition
that they're testing for? You know it's not a generic test that then yields a diagnosis,
this is a test for CAD because that's been suggested as the possible diagnosis. Correct
so it is a special test that has to be specifically ordered by the clinician,
almost always it's going to be ordered by a haematologist or you know a blood specialist.
I think that they're the ones that are going to put together some of the results on the more
generalized blood testing to think "oh in order to try to get a more specific answer I'm going
to need to order some more specialized testing" and then again it's on that clinician to remember
that they have to talk to the phlebotomist, the person drawing the blood and then also the
laboratory processing the blood about maintaining that warmness and you know even the air outside
of our body is not the same as our core body temperature and so you know it might not seem cold
in the room where the blood is being drawn but the temperature difference is enough to cause there to
be that agglutination within the test tube and then that makes it impossible to evaluate the
blood accurately. Okay so it makes those red flags all the more important doesn't it to make sure
that they go you know this directs clinicians in down the right route for this testing. Absolutely.
Catherine can you also just kind of give us an overview from a healthcare professionals point
of view, what are the challenges in managing CAD for patients? You know I think that there
are a variety of challenges, first and foremost is the rarity of the disease right, you know
not every clinician is as fortunate as Pat's clinician to have seen a case before. So one
you know, challenge is that many clinicians have never encountered or been responsible
for managing a patient so thinking about this disease is new and different for many
clinicians. I think that the dual physiologic action of the antibodies is also a challenge
right. Are they mostly causing the destruction of the red blood cells? Are they mostly causing the
sticking together of the red blood cells? Are they causing both? and then you know how do I
think about addressing those specific things that might be happening in my patient at any
particular time. Luckily you know there's been a lot more awareness of CAD, there's been a lot of
new data that has come out in the literature about CAD as well it's really not the benign
disease that we may have fought in the past. It is a disease that deserves our attention, it deserves
an accurate diagnosis and it really deserves a directed approach to therapy. Brilliant, thank you.
I'd like to delve a bit more into really what it's like living with CAD and Jörg
I'd like to come to you first. What is the impact of this and the diagnosis on
your life. So thinking about all of the broader terms like social interactions,
mental health ,work, you know, disease management. What's the whole impact?
Generally saying, you are not, you feel as if you're not worth anything anymore,
since whatever you try to do in the cold doesn't really work anymore.
I enjoyed going to Christmas markets for example, with my family and friends and it turned out to be
impossible to go to Christmas markets anymore in the cold or in the snow which is nice,
because I just had too much pain, even wearing thick gloves and almost, yeah a mask outside,
but you have to drink the mulled wine or Gluhwein, and then you have to open up your
scarf or whatever you, which covers your face and it turned out to be getting worse and worse and me
turning quicker and quicker into my skin turned blue. That's the example of Christmas markets,
but also just simply going outside and taking a walk becomes a challenge. Wife, children,
family, my mother for example she has been sick and I went up to help her and went shopping for
her and she said "No don't go shopping anymore because it's cold outside". "Oh great, yeah",
that's an example, these are a few examples of what happens. What about work, were you
already retired when this happened? Has it impacted your ability to work? Before
I even knew that I had this disease I felt the impact of cold agglutinin
disease because roaming around, driving around across Germany visiting dealer, customers,
going outside the car for a minute, walking into the dealer's workshop just turned my skin, yeah,
blue and some of them believed that I was an alcoholic because my nose was so funny
and blue and my skin was so pale and it turned from white into blue or from blue into white,
so they looked at me just suspect, suspicion and suspected that I was an alcoholic. Yeah
then my colleague There's quite a bit of stigma around that then isn't there.
You know something that you know that's obviously, that's an unpleasant thing to
feel about, a burden that people are making that judgment on you.
And I had a base with the company in Germany which I visited quite regularly and my so-called
colleagues actually made a bet how long it takes me from turning from blue into a normal skin
color again, yeah so they said, some of them said it's going to take five minutes the other said 10
minutes or so they they said okay it took Jörg 13 minutes to get, to turn into a normal color again,
that was "fun" but still you realise something is wrong. Yeah well we, just before we joined this
webinar we were doing the very British thing of talking about the weather and you know you can't
underestimate that you know, obviously Becky and I were talking about how actually Autumn
is our favorite season, you know just the the enjoyment that we get from that being outside and
having that and you know that's something that you're being deprived of really enjoying that,
so I think we can't underestimate the importance of those those just normal things about life. So
I appreciate you sharing that from a mental health point of view you know. Have you found that that's
been something you've needed support on you know have you had support and how to manage this side
of you know the side of the disease? Yeah I had a psychological support because I just
didn't know how to deal with all that, with the whole circumstances, not feeling you are worth
it anymore. I was, I had rather small children or little children, they needed to be guided
and they went out with their sleds in the winter time and I couldn't do that anymore. Shoveling
snow was getting almost impossible in winter time. Me and my friends used to go out walking
regularly in the forests. I couldn't do that anymore when it was getting cold and my friends
they actually said "okay okay in winter time when Jörg cannot go out let's all get inside and
create a gym for ourselves" so we had all kinds of material to keep us fit but internally they heated
the room everything was nice yeah, and yeah I felt guilty. I felt guilty which is stupid, but I had
to learn to accept help from others knowing that I have this problem. Well I think it's so impactful
that you started that question by saying that your your own sense of worth was impacted by this and
I can see Pat that you're nodding and you know I can see that a lot of that's resonating with
you. You know how has CAD impacted your life? I can't say the psychology of it has, I tend to
I guess be rather accepting of things and and do what I can about it and if I can't do anything
else then okay. But a lot of his experience as far as turning blue, I didn't start turning blue
until about two years after the diagnosis. We tend to, also in some cases and as the CAD gets worse
we tend to have brown, tea coloured, Coca-Cola coloured urine I didn't have that until later.
It was the tachycardia, the the rapid heartbeat and the
breathlessness that were my main symptoms. But now, you know talking about going outside in
the winter. We kind of have to become hermits in the winter time which is not fun. It's ,
at last year I missed a Christmas celebration with family because it was incredibly cold on the
particular evening that we were going to have this and and I just, that I couldn't couldn't do it.
So it's things like that that impact us. It's also, you know, The CAD Foundation
with patients, we have patients that join our Facebook group called 'Caddy Chatter' and it they
are very scared when they're first diagnosed. It's a very scary thing to find out you have
this disease and not a whole lot of people know anything about it which also leads to
trying to explain it to friends and family and so forth that they just, it's kind of like a
"Well, just do it, just go ahead and do it. Well, no!" Do you find that because, obviously
isolation is a big thing for I think most with rare disease, Do you find that over time,
because you have to kind of withdraw a bit in the winter, that you stop getting invited to some of
those social interactions? Just stop happening as opportunities to you because people assume "oh
Pat won't be able to come to that" or are people willing to make those concessions like they did
with Jörg, where they made an alternative and they brought the exercise inside? No, that is, that has
happened and it's happened to many of our members. Where they become housebound because they just,
even you know it gets to the point where even in the summer people aren't invited because we
have to be very aware of air conditioning and going to the store, going to the grocery store.
I have to ask my granddaughter to do my grocery shopping for me because, every once in a while
I kind of forget what the impact is and I go ahead and I do it and that happened,
oh maybe two or three months ago, where I went in a grocery store and I just kept pushing myself
and pushing myself and I could tell by the way it felt, I had blue across here, because it hurts and
I'm sure I had a blue nose and I had blue fingers and it just you know you scare people to death
because. It's a real loss of independence with that. Blue. I'm sorry say it again. It's a real
loss of independence with that isn't it you know something that you routinely have done now you're
not able to to do and actually presumably even in the summer when the air conditioning is cranked
on when you would otherwise be able to go right it's you know precluded you from that activity.
Yes. And you mentioned there, about you know, what a scary time it can be which is a nice opportunity
to kind of think about you know, when you were diagnosed. How supported did you feel? Did you
have the opportunity to ask questions and get you know the answers to the things you wanted to know?
When you look back at what your diagnosis looked like? I did because I had this doctor who had
seen it before. He was very proactive. He took the initiative. He did the research on what he
didn't know and and there wasn't a lot known about it at that time, it's increased in the last two,
three years, that we've made accelerated progress and so I was again, very lucky he did,
he knew that he needed to do a bone marrow biopsy and so he immediately had that done. Turns out I
have the very slow growing lymphoma that causes CAD in some cases and so he assured me that it
was very slow growing at my age. I was older at that time and he assured me that more than likely,
I would outlive the lymphoma. The lymphoma wasn't going to be an issue for me. Right, and I'd like
to ask you both this next question and I'll come to you first Jörg, what would you see is a
patient's biggest unmet need when living with CAD? The patient's biggest unmet needs turn out when it
starts getting cold you start, you stop going outside or you you're afraid of going outside
and your social interactions, come, getting lesser ,are getting less and less
and then the worries start "okay what do you wear?" and "how go how cold is it going to
get?" so it's a social interactions and the planning what to do and you start thinking
about "what do I do against getting bored?" because you are trapped inside your house.
And Pat, what about for you what do you say the biggest unmet needs are
from your perspective? Looking, I'm gonna look at it from a broad patient perspective,
what we hear at The CAD Foundation, and that is, just getting a diagnosis and then on top of that,
getting our blood tested correctly, and then on top of that getting the correct treatment.
Right okay and it's, I think something you've both touched on, is about the impact on on the
wider family, you know you've talked about having to rely on your granddaughter and
you mentioned your wife and children, you know if you could tell people, kind of what
the impact of this disease is on the family is, Is there more you'd like to add to that?
Jörg I'm gonna come to you first. Yeah I just had to take a breath because it's a
big it's a big issue. You have to make your close family and your friends first of all
aware what this disease is, all about ,that it is a autoimmune disease which your body fights
and autoimmunity is known by most people. Cold agglutinin disease, yeah okay something new,
but if you say it's an autoimmune disease "aha your body fights against itself" yeah and
this is something the people have to know first of all then as Professor Broome mentioned,
symptoms are so different, one turns blue within split
seconds the other one doesn't ever turn blue but has the, I don't know the special word I keep on
forgetting this but the blood is being destroyed, your blood red blood cells are being destroyed and
that causes other symptoms and other problems so you have to explain first of all your close
family and your close friends, they then get the word and they spread the word around and
it took me and my area about six months so that my friends and people who I know, who know me,
know what it's what I started to deal with and they came and they approached me and they said
"okay what is this? What is it you have? We know you turn blue and you look like, Papa Schlumpf
from the cartoons. So it took me half a year and I was actually open about this,
with these various sentences, and of course my cat, I have a cat as well in Germany. We've got
a very fabulous cat that keeps appearing. It keeps me warm as well. Good company over the
winter I guess as well. And Pat, what about for you what's the impact been on your wider family?
Well I mentioned my granddaughter, and it's just the time that it takes away from her.
She's studying to be a nurse and she is more than happy to meet the needs that I have so
from that aspect it's good, and she's she's also very good about, you know, as CADs we tend to
sit a lot and sometimes probably more than we should and so she is very good about "Okay Grammy,
you unload the dishwasher" and making me do things that just kind of keep me a little bit active,
otherwise I would sit and which is another problem because the, you know if you think
about CAD and the the way it works, every single cell in our body relies on that bloodstream
to provide the nutrients and the oxygen that those cells need and we're not getting enough,
so it's very tiring to do things and you know, you eat a meal and the blood, a lot of your
blood goes to your digestive system, so you're you just can't do anything after eating a meal.
Encouragement is really important to you then isn't it? Having someone. Yes ,
exactly and your diagnosis influenced your granddaughter's choice of career?
No I don't think so, she's been that way. She started out as a vet tech, surgical vet tech,
for a veterinarian and so she has this tendency to want to do things like that, so I don't think
it was the CAD so much, but she will make a very good nurse because she's very understanding and
takes care of people. Oh that's wonderful, so if you could tell
people one thing about kind of the impact of CAD on you and your loved ones what would be?
The one thing that people probably don't know about this disease that you'd like
to tell them Pat? For myself I'll
repeat what Jörg said that you know people taking care of you makes you feel guilty, that the
as far as the impact, like I say my granddaughter, she's studying to be a nurse, she's working,
how dare I ask her to give up her time to do things that I just can't do? She does it,
and she does it willingly but it does put a burden on her too, People, other people in
the family they you know they feel like, I get out of the car and they've got to help me walk,
it just, and again it goes back to that what you said before after a while people just kind of stop
inviting you to things because they they get used to the fact that you're probably gonna have to say
no. Yeah You mentioned Jörg that you know, you've obviously, you and your family did some work in
trying to kind of educate people locally but is there anything further that you think you know,
the one thing that you would like others to know about the impact of CAD on you
well? The first impact that CAD had on me, though knowing that I had CAD was,
it's not lethal, it doesn't end your life. That was first of all a relief,
and then you just have to learn to live with it which is the challenge in itself.
Brilliant, thank you so much so much I appreciate that I think you've been really candid there with
your you know it's given a really good insight into actually the the true challenges of this.
So I'd like to really move now I think, obviously the patient support is paramount
in all rare disease and particularly in these kind of isolating conditions like
this. Pat can you talk a little bit about the role of patient support groups play
in terms of supporting individuals and the families living with CAD?
One way is patients tend to be, as I mentioned before scared. They also tend to, because of the
isolation, fall into depression. We can provide that social interaction even though it's online.
Our Facebook group 'Caddy Chatter' is very very active and most of the people in there
that help the newcomers are pretty knowledgeable about CAD and what you can expect and you know,
you're gonna find somebody, probably more than one somebody, that has experienced exactly what
you're talking about, so from that aspect, we can. We also produce webinars with doctors and
others that can give knowledge of CAD and at the end of the webinars we allow the
patients to ask questions and so there's a lot of questions you know, we always go over
time on these webinars because of the number of questions and so I think that helps it. It just,
it's the unknown that scares people as Jörg said uh after a while you learn you're not gonna die
from this you learn about the mechanism of action of how, why it causes this and why it causes that,
and what you know. And again that goes back to just feeling included that, hey I'm not the only
one out here with this, I've got other people I can depend on and talk to and listen to and front
loading of that accurate information is really important to end that kind of fear at the outset.
And Jörg if I can come to you about sort of the challenges of supporting people, now you've talked
quite a bit about that kind of, the isolation, and you've both mentioned about exercise I think you
know the not having the same opportunities is that a big part of supporting families? Giving
them advice on other ways to stay active and to help with that side of, you know, because
we all know that exercise makes us feel better, which can help with isolation and depression,
is that a part of the work that you do through your group for example Jörg? Yes, absolutely, Pat
I'm so jealous of you because the 'Caddy Chatter" or the 'Chatter Caddy' group is so much more ,
it's so much more active compared to the German group, but it's a mentality thing
and I experienced that once you start getting to talk, once you start getting to talk to the
people they don't view your remarks they just start to chat with you and then you
start getting their reaction and yeah get out, talk to people who have the same issue and they
will help you. They are always so friendly and nice people around in the world. You just have
to go out with the systems you've got at hand, luckily we have the digital systems nowadays
that yes you can get help, because coming back to what was said before,
I had difficulties to find German language understandable explanations about cold agglutinin
disease, the explanations I got were for doctors and for professors with their language which I
partly had to translate for myself to understand what this is all about and I missed talking to
patients like myself and that made me open up a Facebook group in Germany as well.
So what do you think I mean I think that it sounds as though because it's a very visual nature of
it that's the stigmas may be a reason that might stop people reaching out perhaps to to get advice
or to have connections so it makes peer groups like yours really really important you know. Do
you as well as kind of digital connection do you bring people together in any physical way is that
something that either of you have done through your different organisations? Maybe Pat first,
if I come to you? We had planned, when we started in 2020, and we had planned to have an event
in 2021, now of course it had to be in a warm place and you know not not a lot
of physical activity, but we were in the process of planning this and then COVID hit
and so we pivoted very fast into the webinars and and we've done that since and they've been very
successful in the way they've been received in the numbers of attendees and so forth so
it's so far we've continued with that. We've talked about having an in-person event again
there is a a disease called warm autoimmune hemolytic anemia which you would think would
be people can't go out and get warm but it's that's not exactly how it works
but some of our people have both warm and cold together and we have talked about participating
in events with that group and just see how many CADs are willing to venture out and and
do an event like that what about in Germany, Jörg is there any appetite do you think to
bring patients together or is that that kind of digital Facebook connection more appropriate
for people and more of a safe space? No it's a different mentality in Germany, of course I'm,
I would love to meet people in person whom I've talked to and written to via various digital
systems but COVID came in between and stopped all this happening video conferences are happening
via various platforms and I'm lucky to take part and participate on this so people started to get
to know that yes there's a Facebook group as well in existence and very recently it started to get
really more alive yeah, it can always get better, but it's gotten it's gotten better over the last
six, seven months so we are at the very beginning compared to the U.S and it's about building trust
isn't it I think as people start to really recognise that this is a safe space and that
the trust level goes up then also the the ability to share more freely comes out, you know it's
natural with any community that people become come to it quite reserved but you know over time I'm
sure there'll be like Pat's group where it sounds like they're it's a very chatty forum and lots of
insights and you know it just it just takes time doesn't it for people to feel they can be safe so,
we've got loads of questions that have come in which is great so I want to make sure I've
left time for those but before we move on to questions you know if somebody's newly diagnosed
and in that kind of initial fear phase, I think we've really acknowledged it's kind of the first
thing that may happen to people and Pat where's the most reliable source of information where
can they go to get that support information. In that first phase of post-diagnosis? I'm
probably a little prejudiced but I would say our website coldagglutinindisease.org
has a lot of information. It also has a section for the newly diagnosed. We have a
person who is an advocate for the newly diagnosed
to help, you know, if they need someone to talk to so and and she is very encouraging
on being an advocate for yourself. Don't just depend on listening and what you hear,
ask questions. insist on getting the correct blood test. that kind of thing the and that's the way
we have to be. We have to be very firm in dealing with this you know as far as
phlebotomist and because they haven't heard of it. One thing we are trying to do is educate
physicians and we've had two, we put together with educational groups we put together two
doctor CME programs that hopefully a lot of the physicians might go to those.
It's just, it's an educational thing it's both with patients and with the medical community.
We are finding that today, that there are more doctors that are aware of CAD. I mean I think
we've got some questions around that so it's really encouraging to hear that that's improving.
You're connected. One of the things, one of the things we have on our website is and it's not
inclusive so I mean we don't have everybody on there, but if a patient has a doctor that they
like and we ask that they put it on our website and so we have a list of patient recommended
physicians there in various, we're global so it's both in in Europe and Australia and in the
U.S and Canada so it again not comprehensive', but as we're going along we're finding there's
more and more doctors that patients consider "I've got a good doctor". Well that's that's
certainly encouraging, and Jörg from a from a German speaking perspective, for families
where could we sign post families that might be German speaking that want to access information?
The system in German is a bit different than in the USA. What you do as a patient in Germany, you
contact your general practitioner, you go to your family doctor, and he then goes to haematologists
who happen to have training with various universities or rare disease centers which we
have, so, universities, rare disease centers get educated. They are very well educated professors
in Germany but more or less centralised. The ones who really investigate this disease, but
others know about it and they can tell you more going to a general website at the moment is not
available. That's why I said I have my site which is always open to questions and I could always.
Could you give us the handle for the listeners of your Facebook page,
so they know where to find you and we can pop that in the chat?
Cold agglutinin disease is Kälteagglutinin-Krankheit
Maybe you can type it for us?
It's also a good time, while you are typing that in the chat for us,
to also let listeners know that your second CAD patients day will be taking
place virtually on zoom on the 21st October between 09:30am and 12:30pm
so again Becky is going to put that in the link, the zoom link for that so if anyone
want's to pop that in their diary they can, which will be a German speaking patient
support session so good to have that dropped in to the chat. So we've got lots of questions
so I want to try and get through some of these. I think the first
one Catherine is going to come back to you. Somebody has asked here,
Is there a push for education to clinicians to ensure that the blood sample is handled properly?
Oh absolutely so you know anytime we hold any type of conferences or meetings or education sessions
we're stressing, really the importance of diagnosis and with that importance,
comes how to handle the blood specimens, not only you know the peripheral blood specimens, but you
heard Pat mention a bone marrow examination and it's important to handle that specimen warmly as
well so that again, we want accurate information to be available to the clinician who is performing
the testing, so that the patient can get, quick and accurate diagnosis. Right thank you,
actually a few of these are going to be for you Catherine. We've got another one here that says
how come symptoms can come out so heterogeneously in different patients? On one hand color changes
versus hemolysis? Yeah? Is there an explanation for this and what is behind the difference and is
there a tendency towards more external signs blue skin in later evolution of the disease? So quite a
complex question but if you can perhaps. There is an explanation and it has to do with the quantity
and the strength of the antibody. So different people's bodies produce different quantities,
but they also produce antibodies that have a different strengths, and some of those strengths
have to do with the exact temperature at which the antibodies are most active and so all of those
things can come together again to make this a very unique disease in each individual patient. I you
know think about these antibodies kind of like you think about people and you can see our pictures
right and so we're all people but we're all very different in our hair colour, our eye colour,
our face shape, our nose shape and that's how antibodies are as well and that's what gives the
disease so many different characteristics in each individual patient. Wonderful thank you, and Pat
you mentioned about having a lymphoma and someone that has asked the question here is CAD always a
lymphoma? I'm not sure who wants it but? No okay sorry. Go ahead. Let's add to that Catherine.
Yeah so it's not it's not always associated with a diagnosis of a lymphoma but what we are learning
and and what we have come to accept is that CAD itself is associated with the presence of a
very specific kind of lymphocytes within our bone marrow and so when your doctor is diagnosing you,
one of the things to look for is this specific kind of lymphocyte in the bone marrow, but also
as in Pat's case to see whether or not the CAD may be associated with an underlying lymphoma,
some of which are very slow growing as Pat mentioned, and may never require therapy,
but others may require some direct therapy at some point in time. Thank you there's another question
actually that leads on from that and where someone has said for Professor Broome, when there's so
much impact of CAD on patients which has not resolved through therapeutic intervention, how can
healthcare professionals better support patients holistically? Really good question. It's a great
question and I think you know from my perspective, what I like to think about in managing patients
with these rare disorders including CAD is, it's my job and my responsibility first of all,
to really listen right, and to hear what are the impacts, because as we mentioned,
they're going to be very different, and then we can try to really address either with medical
intervention or with supportive measures. What can we do to help improve any of the symptoms that you
may be having? There are some therapies out there that are available to potentially address you know
either the agglutination or the hemolysis or both and so I think really understanding what has the
impact been on your particular patient and what is that patient's goals, right, what would they
like to do? What kinds of side effects are they willing to potentially encounter from a therapy
etc? So I think it's really about forging a partnership and you know I think what Pat
said about patient recommendations for physicians I think as an advocate for yourself, as a patient
if you don't feel like your clinician is hearing you or listening to you or really addressing your
concerns you can always you know ask them "do you know a specialist in the area who is particularly
interested in that I might visit um on an ad-hoc basis not maybe every visit but intermittently
just to keep up?" and also you know remembering that we're trying to learn about CAD all the time
and one of the ways that we do that is through clinical trials and so going to a center where
they may have clinical trials some of which are interventional with medications but others of
which are just information gathering we do have a world registry where we are just trying to gather
information about symptoms, about how they're impacting patients lives so that we can take
that information and try to really understand and learn how we can better help these patients
so much. I am gonna have the liberty of going a few minutes over because there are some really
good questions here that I'd like to get to so let's try and keep it brief but I do think it's
worth getting to these and somebody's asked here what would be something that you could share that
would make a difference for when you're advocating for your care and diagnosis? I think either to
Pat or Jörg what would be the thing that would make a difference in advocating for yourselves?
Yeah cooperation with knowledgeable people who are willing to help me out with the technical details
of the communication. I'm thinking of opening a website but I need help and somebody's support who
can reach out to me and help me. Communication support is one of the main issues here
so being aware and I need to help, I need help of others who are more more knowledgeable about
technical details on the internal. Call to action to put out to those listening I think.
So another couple of super quick questions Can a correct diagnosis be done on
a coagulated blood sample by heating it up? Probably for you Professor Broome. Unfortunately
not, so once that process takes place a correct diagnosis cannot be obtained.
Okay wonderful thank you someone's just asking about the German link, yes I think Becky's going
to try and put that in the chat for you so you can get that if not we will certainly be sure
to share that across our channels but we'll try and get that out before the end of the session.
Do the panel see a difference in how patients live with CAD depending on where they live and
Pat obviously you're working with lots of people internationally, perhaps you can answer that one
for us? To some extent we have a say in the US, we have the same problems of getting a diagnosis,
having our blood handled correctly that kind of thing as I understand it in Europe the
health system is such that it can be more difficult too if you have a physician that
is not listening as Catherine said the, the, the CAD brain, I just lost mine, it does affect
your brain and the the physician it, you know if they're not listening and they're not willing to
do the research to learn what they need to do for you as a patient, then change physicians,
that's very difficult in Europe as again as I understand we have several European patients that
are in our 'Caddy Chatter' and they just use the translation tool in Facebook to do, to understand
and we use it to understand what they're saying so we hear from a lot of patients that are,
it's it's just very very hard for them to get the treatment that they need.
Thank you I appreciate that, so one last question we've got here possibly one for, it's for you
Catherine, are there behaviors that can prolong the progression of the symptoms of the disease?
Sadly no it is a disease that really basically has a mind and a tenor of its own and the production
of the antibody is not dependent on any of your behavior so you know not going outdoors or not
drinking cold liquids or you know trying to avoid those things is really unfortunately
not going to change how the disease is going to behave. Wonderful we've had one last comment
that's come on that just says Jörg is so great, couldn't Jörg start a German-speaking branch of
The CAD Foundation or 'Caddy Chatter' in German speaking, so maybe that's a conversation to pick
up afterwards. I was thinking it just it real quick, I was thinking that when he was saying
that maybe we could talk and and the U.S can help him start something and get it built.
Fantastic well that's a wonderful outcome if something happened there, that'd be wonderful
one. Thank you all so much I mean, it's really, I think it's a couple of things that really spoke
out to me there was and it takes us full circle back to something you said Catherine that started
by the low threshold for suspicion within HCPs I think that's a really key thing here and I think
you kind of ended with it there Pat as well about how important it is to have that appetite to look
for what is really happening and that important of listening and I think also what I've certainly
taken away from this is that you know the physical aspects of a disease are one thing,
but actually the things like the guilt and the isolation and that kind of loneliness and you
know, you talked about just being tired doing the dishwasher and things like that they're often the
things that people and healthcare professionals don't see so it's why it's so important for these
kind of sessions because you just can't get that nuance without you know people like Jörg and Pat
sharing that with us so I greatly appreciate your candid, very open approach to telling
that to us and I think also Catherine obviously you've given a really good insight that's been
really accessible in terms of understanding the science behind it also thank you all so much.
Also a big thank you to our sponsors for partnering and helping us bring this session
to the listeners and to our listeners for so many great questions it's always great
when we have to jam in a load of questions at the end it makes it you know really wonderful
from our perspective so if anyone does have any more questions after the session please
do and feel free through some contacts come up at the end reach out to us and
also please do connect with Pat and Jörg for any support if you're going through this at
the moment. Big thank you to our panelists and have a great rest of your day. Thank you, bye.