Finally a full diagnosis

[Graham7694]

I was diagnosed with Primary Myleofibrosis earlier this year and have finally received my full diagnosis

I am now PMF calr type 1 (deletion) which as far as diagnosis goes is as good as it gets 😀

[Aime]

Hi Graham, it’s good you have a definite diagnosis. I found it’s always better to know rather than speculate. Kindest regards Aime x😺😺

[socrates_8]

Hey Graham...

Cool. Yes, CALR Type1 is definitely the best as far as I am aware. I have Type2, but also have the ASXL1 mutation, just to keep me company...

But yes, it is always good to know what the mutations are that we have, and of course any implications thereof...

Best wishes

Steve

[Skye333 in reply to socrates_8]

Hi Graham I was diagnosed nearly 2 years ago with PMF and jak2 mutations. I’m taking 20mg Ruxilitinib recently lowered because of anaemia.

It’s good to talk with others that have the same MPN. There aren’t that many posts from M eFfers.

[Graham7694 in reply to Skye333]

Hi Skye

I was diagnosed earlier this year and have been on 20mg Ruxolitinib and allopurinol and baby aspirin since. Seems to be working well for me. And yes the MFers are a rare breed it would seem although I am sure not too many people want to join the club 😀 where are you based?

[Skye333 in reply to Graham7694]

Maybe that’s true. I’m in Halifax and go to Leeds hospital which is really good.

[Tico in reply to socrates_8]

Hi steve, i wud certainly value some of ur advice,knowing u ave a vast amount of knowledge on mpn's & mutations in general. I ave had et jak2 10/11yrs diagnosed, although like a lot on the forum suspect i've had it a lot longer. Platelets well over a thousand when diagnosed after it was discovered i had a small stroke,put straight on hu with aspirin& told i was high risk,terrible family history.given a prescription for hu & aspirin with little discussion taking place.it was 6 months after i found ov i was jak2 positive when i had seen it was written on the front of my file, when i asked the haemo why i was not told i had the mutation along with the et he replied it was not significant! My platelets were for the majority of the time on the high side & when they came down to the lower hundreds i thought they wud settle,platelets had other ideas & started to bounce about like a yo-yo. Then in 2015 while on 4 hu & aspirin i had a larger stroke were stroke consultant took me off aspirin & onto clopidogrel.when i next sax a haemo, not my regular one,hu was upped to 5 daily! Would not discuss alternative medication (like regular haemo) when my regular haemo discoved i was taking 5,he was horrified & reduced it to 4, since then platelets have ranged from as low as 120 to high of around 1,100,secondary ranauds & also take meds for other conditions,ashma & post stroke epilepsy.still waiting on some results of blood tests i had in april/may for auto-immune antibodies, rf,ana, anca,which i should have received on may 31st when whole hopital IT went down for 2 days & all appointments had to be rearranged,next appointment being 5th sept. In between then just had normal fbc's done & cns as called & gave me platlets results over phone. At present on 3 hu daily with other meds.also recently in hospital for 2 days with what the stroke consultant termed 'postural hypoperfusion' have had ct with contrast dye done to look at blood vessels more closely,then will see the stroke consultant the day after haemo on the 6th. It appears to me & haemo admits it they have have never really stablised my platelets but will not discuss other medication, defintley a cost issue ( which i knew) & other haemo admits too. But in last couple of years i feel more fatigued which before was never really an issue with me & a lot of joint pain & large bone pain. I had a bmb before i was diagnosed,but these symptoms are starting to get me down,gave alcohol up completely nearly a year ago & don't feel any better for it & platelets still have mind of their own! Hu only lowered because of concern over white counts,my question is would it be a good time to discuss having another bmb done with my haemo,mind you that might be a cost issue like the hu! I would really value your opinion & knowledge. By the way, i do not know what my alelle burden wasat the time of my diagnosis.look forward to your reply steve,forgive any typo's,took me long time to write,still have cognitive issues due to stroke. Atb, tina.

[socrates_8 in reply to Tico]

Hey Tina...

Well, that is quite a lot to digest...

I will reread, and reply to you again privately though because this is actually a thread from Graham, who was really hoping to hear about some of his issues etc...

However, all of that said too... You really should know much more about all of this than I, as I am only a little over 2 years since my original diagnosis... I will reply more fully to you privately Tina...

Best wishes until then...

Steve

PS. You will also have to bear in mind that things might be a tad different here in Australia, than they are for you in the UK, if that is where you are...?

PPS. And no need to apologise at all... I too have had a couple of TIAs, (minor brain strokes).

[Tico in reply to socrates_8]

Thanx steve & i am sorry to both you & graham, might have had it long time but haemo will like most here in uk do not reconise it as a rare blood cancer, & seems to not want to discuss it in depth.again apoligises to you both.tina.

[Graham7694 in reply to Tico]

No need to apologise 😀👍

[Tico in reply to Graham7694]

Hi graham,genuinely am sorry to come in on ur thread,& i'm happy u got the lighter of the evils. Than again graham their is no lighter option is their really in this mpn rollercoaster! Again accept my humble apologies & i send you all my best wishes.tina,x.

[Graham7694 in reply to Tico]

Tina - please don’t worry. We are all in this together whether we have et, pv or mf. X

[P-O-T-S in reply to socrates_8]

Hi there,

I didn’t realise there were types 1 and 2 etc? What would establish type. I am MF Dipps score 0 JAK2 + no other mutations such as Calr Asxl1.

Thanks

Barry

[socrates_8 in reply to P-O-T-S]

Hey Barry...

We all have what are referred to loosely as various types of acquired mutations, I say acquired because the greater majority occur that way, however, in some very rare cases they are thought to be genetic.

Just sticking with the CALR mutation for the moment... They occur and have been detected or described as a collection of over 50+ different types of 'Indels' (Insertion or Deletions), of 'Frameshift Mutations' in Exon9. The most prominent however, are Types 1 & 2. Both have slightly different properties/nuances depending largely upon whether it is in ET of PMF. However, they can also be associated with a host of other more adverse mutations as well...

"CALR (calreticulin) trails JAK2 as the second most mutated gene in essential thrombocythemia (ET). Mutant CALR in ET is a result of frameshift mutations, caused by exon 9 deletions or insertions; type-1, 52-bp deletion (p.L367fs*46), and type-2, 5-bp TTGTC insertion (p.K385fs*47) variants constitute more than 80% of these mutations" (Tefferi et al 2014)

NB**

None of the authors have any conflict of interest as it relates to

the current manuscript.

onlinelibrary.wiley.com/doi...

Obviously, there is a great deal more that I could have included here, however, I believe I have imposed upon Graham's post enough...

Best wishes

Steve

[Graham7694 in reply to socrates_8]

No imposition on my post Steve 😀 type 1 (from the selfish point of view) gives me a far better prognosis than type 2

[socrates_8 in reply to Graham7694]

Thanks Graham...

Steve

[P-O-T-S in reply to socrates_8]

Thanks for taking the time to reply Steve, that is all very interesting and helpful. It would appear I have some more studying to do!

Thanks again

[socrates_8 in reply to P-O-T-S]

No problem Barry...

Steve

[Paul123456]

Graham

Pleased to hear you are CALR 1, as you say should buy you lots of time for the new drugs to arrive.

What drug regime are you on at the moment?

Best Paul

[Graham7694 in reply to Paul123456]

Hi Paul

Currently on 20mg Ruxolitinib bd, 300mg allopurinol, 75mg aspirin.

Seems to be working well and now on week 11 if meds

[mammared]

At last! Happy for you and to finally have an answer is so much better for you than being worried as to what label is going to fit your condition.

Wishing you well with your prognosis.