New PNH diagnosis

[Andy S]

Good morning.
I was referred to haematology in October, 65% PNH clone, referred to Leeds. I had a phone assessment on Monday and I'm attending for bone marrow, echo and other blood tests this Friday.
They have been lovely as regards patient care.
I'm a bit jumpy in myself, I'll be glad when we're into the treatment phase.
Thanks for reading. I've found forums like this very helpful over the years.

[Neil Cuadra]

Andy,

I'm glad you'll have an in-person appointment. There's only so much they can do with video appointments.

I'm also glad that you've been treated so well by your health team. From your forum signature, it's clear that your wife is an important part of your support team too!

As a former GP, you presumably understand the tests, the reasons for them, and will be able to work with your physicians to interpret the results and consider the appropriate treatment.

PNH is the concern now, with your long-term MDS lurking in the shadows. PNH is much better understood now than when you were first diagnosed with MDS, and of course there are now drugs for PNH treatment.

Please let us know how it goes.

[Andy S]

Thanks Neil.
Yes, it's possible that the dismissal of my first attack of haemoglobinuria was due to the lack of effective treatment at the time.
I'm very aware of the privilege of living at a time when illnesses are treatable. I think back to the care that was available to my parents' and grandparents' generations and feel quite humbled.
Best wishes

[Andy S]

Assessment postponed until March 15th to enable echo, abdominal ultrasound and bone marrow to happen on the same day. It unsettled me a lot (perhaps I get unsettled more easily these days) but I'm levelling out mercifully. One isn't always master of one's self as one would wish.

[Andy S]

I seem to be sleeping a lot of the time. Slept all last night and 3 sleeps during today. Plus more breathless on minimal exertion.
We're up for the weekend with my son and his family in Castleford. I think I'll ring Leeds on Monday morning and see if they can see me on Tuesday for the bone marrow and get treatment under way sooner rather than later.
Does that sound reasonable/feasible?
I've never been like this.

[GoodDay5150]

Hi Andy. We are all sorry to hear that you may have PNH, but as you know modern treatments enable many patients to live reasonably normal lives. I am just curious as to whether or not your MDS is in remission or has it being controlled by meds? If you had MDS in the past, then you are accustomed to all of the testing and appointments associated w/ bone marrow failure diseases. Being a GP, you are aware of transplantation for some PNH patients, and there are a few of us here who have been successfully transplanted. I have many posts on this site regarding my experience, and I would be more than happy to answer your questions. Of course, me being a patient and you being a GP as well as a patient. I had never heard of PNH until I was diagnosed in 2011, and w/ the internet there are a lot of great resources I have used. We all wish you luck in your treatment.

Mario

[Matthew42]

This is interesting. I've never heard of someone with MDS developing PNH. Would it be primary or secondary PNH? They are not all the same. Secondary PNH is much milder, I believe.

Often times aplastic anemics have small PNH clones, and so they are at risk of developing secondary PNH. My mother has a small PNH clone, by the way, but she has classic aplastic anemia. When I asked my mother's hematologist about it, she said that having a small PNH clone means that her aplastic anemia is strongly immune-mediated, first and foremost. She wasn't that concerned about my mother getting secondary PNH, although possible.

@Andy: I'm wishing you all the best.

Love and peace,
Matthew

[Andy S]

Hi, and thanks for posting. I'm in the pre-assessment limbo phase, searching all over for information, and it's nice to be in touch with old stagers who have levelled out.
My MDS was very hypocellular, strongly auto-immune, daclizumab worked by targeting the activated T-lymphocytes. The auto-immune process was still there but my levels rose.
PNH stem cells are apparently not affected by the auto-immune response so they have an evolutionary advantage and increase.
My clones are around 80% atm. My main symptom is lethargy, though I have had 3 episodes of intense haemoglobinuria.
If I'm treated with ravulizumab, which I think is likely, I'm hoping that I'll have more energy.
I don't think BMT is used for PNH in the uk as ravulizumab is so safe.
Best wishes to all.

[Matthew42]

Originally Posted by Andy S

Hi, and thanks for posting. I'm in the pre-assessment limbo phase, searching all over for information, and it's nice to be in touch with old stagers who have levelled out.
My MDS was very hypocellular, strongly auto-immune, daclizumab worked by targeting the activated T-lymphocytes. The auto-immune process was still there but my levels rose.
PNH stem cells are apparently not affected by the auto-immune response so they have an evolutionary advantage and increase.
My clones are around 80% atm. My main symptom is lethargy, though I have had 3 episodes of intense haemoglobinuria.
If I'm treated with ravulizumab, which I think is likely, I'm hoping that I'll have more energy.
I don't think BMT is used for PNH in the uk as ravulizumab is so safe.
Best wishes to all.

Very interesting, Andy.

Yes, I did read that "hypocellular MDS" (much more uncommon kind of MDS) was more auto-immune, and that's why you might have PNH. Most MDS is not auto-immune (immune-mediated). That sort of makes sense as to why you may have PNH.

Aplastic anemia and PNH are more related to each other (both immune-mediated) than typical MDS is to aplastic anemia or PNH.
Please give us updates.


Love and peace,
Matthew

[GoodDay5150]

Yes, it is more typical for patients to have AA that can be treated and come back later in life as PNH, and some persons present w/ both AA and PNH. I have met and have been told abt other patients by hematologists and rare disease specialists. In respect to stem cell transplants, it is my understanding that the usual age cut off date in the U.S. is 70. Obviously, someone's overall health absent of their disease is important. A transplant is a huge commitment, but having a good attitude helps.


Mario

[Sally C]

Early on my husband's hematologist drew 3 overlapping circles, representing PNH, AA and MDS. At the time she said it was possible that his diagnosis fit where the 3 circles overlapped. A very strange disease for sure.
All the best to all you brave Warriors. Keep the Faith.
God Bless,
Sally

[Matthew42]

Originally Posted by Sally C

Early on my husband's hematologist drew 3 overlapping circles, representing PNH, AA and MDS. At the time she said it was possible that his diagnosis fit where the 3 circles overlapped. A very strange disease for sure.
All the best to all you brave Warriors. Keep the Faith.
God Bless,
Sally

Yes, it is a very strange disease, so much so that even my mother's hematologist gets puzzled by it, saying how unpredictable it is. It's not like cancer or standard autoimmune diseases.

You are right: Although my mother has classic aplastic anemia, she could develop secondary PNH (25%) or hypocellular MDS (10-15%). But, again, the doctor said, there is good chance she will only ever have had aplastic anemia. At any rate, the hematologist told my mother that her aplastic anemia is highly immune-mediated (Dr. Young confirmed this, I believe), putting her at risk for PNH most of all. She said that sometimes aplastic anemia is less immune-mediated in some people, requiring treatment that is less immuno-suppressant.

Love and peace,
Matthew

[Andy S]

Thank you everyone. It's very helpful to hear people's stories as well as me reading learned articles and getting worried!
I'm currently counting the days to my assessment. Abdominal ultrasound, echocardiogram and of course bone marrow. I'm on warfarin due to a previous embolus in my leg so there's Fragmin to start injecting to bridge my anticoagulation during the procedure.
Then to start ravulizumab and hopefully feel less fatigued! There's so much to do?
Strength and peace to all.