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I am a Mutant!!

(27 Posts)
HAZBEEN Fri 07-Aug-20 18:06:58

For the last 4 years my GP has been monitoring my blood count and has noticed my platelet count is getting higher. Just before lockdown he referred me to a Hematologist. My first consultation was by phone in April. She wanted to have some more in depth blood tests done and then I had another phone consultation this week.
She has said from what she is seeing my DNA has mutated and my bone marrow is producing to many platelets so we have agreed a form of treatment which will only start after I have been sent a consent form and information sheets and attended the day clinic.
I was wondering if any on GN have come across this before and what the outcome was. It seemed such a strange thing mutating!
Hope someone out there can help!

Doodle Fri 07-Aug-20 18:17:45

Hi Hazbeen. Yes the same thing has happened to my DH except in his case it’s his red blood cells not platelets. I think it comes in three forms where the bone marrow produces excess platelets, or red cells or white cells. He has been on treatment (chemo tablets) for some time now as is feeling fine. Hope things go well for you too. It’s a bit of a shock I know but just think of yourself as being in a unique group of people. 😊

Doodle Fri 07-Aug-20 18:19:43

And is feeling fine not as is feeling fine,

HAZBEEN Fri 07-Aug-20 18:22:11

Oh I always knew I was unique Doodle! A total one off as my OH says!
My grandson is now calling me a ninja turtle!!
It was quite worrying though and of course I thought of loads of things I wanted to ask after the phone went down!

Oopsadaisy3 Fri 07-Aug-20 18:27:22

Hazbeen you need to ask lots of questions, especially what the name is of the condition that you have, maybe the info sheets will tell you?

I have some personal knowledge of a condition which sounds very similar to this but you need to refer to your Consultant for more information.

Doodle Fri 07-Aug-20 18:27:55

hazbeen you may find it useful to go to a website called BloodCancer.Org.uk. (Don’t panic at the title)
They have been very useful in providing my DH with booklets and information. If you are one who likes to swot up on what your condition involves then these are the people to contact. If I can help in any other way please let me know,

HAZBEEN Fri 07-Aug-20 18:33:03

Thanks Doodle I will look at that site. Oopsadaisy I am going to wait ffor the info sheets then if I still have questions I will try to ring her (or her secretary). To be honest my mind just went blank on the phone especially after she said I had to fill in a consent form for the treatment which I have never heard of before except for operations.

Oopsadaisy3 Fri 07-Aug-20 18:50:03

I’m sure it was a shock, especially To be told over the phone and it’s always afterwards that you think to ask certain questions.

Hopefully you will have more info soon.

Doodle Fri 07-Aug-20 20:49:58

hazbeen DH had to sign a consent form for his treatment too. Try not to worry, relax and enjoy your weekend. My DH is now on 5 monthly reviews and his results are good.

grandtanteJE65 Sat 08-Aug-20 12:50:51

Could you perhaps e-mail your consultant and ask all your questions that way?

Try not to worry, although I do feel hospitals and doctors generally should be shot for sending letters or phoning just before the weekend. They could at least give you a time you could phone with all your questions.

Good luck with the treatment.

Ijustwantpeace2020 Sat 08-Aug-20 13:09:22

I have the JAK2 mutation. Diagnosed January 2019. I have something called Essential Thrombocythaemia. There are a couple of great sites you can check out. Blood cancer.org.uk or mpn voice. Where about in the UK are you? I’m in Essex but treated in Kent.

Luckygirl Sat 08-Aug-20 13:11:50

No mutants here! Maybe you should change your username! grin

I hope you get all the answers you need and that treatment as needed gets sorted for you.

Flakesdayout Sat 08-Aug-20 13:35:12

Try not too worry too much - easier said I know. I have been working with Haematologists for almost a year. They know what they are doing and scary as it is they will get you sorted. Write yourself a list of everything that is worrying you and have your questions ready. Im the type that likes to know everything, although at the start of my diagnosis my friend advised me not to use Google. I do wish you well and your treatment starts soon xx

Juliet27 Sat 08-Aug-20 13:38:21

My haemoglobin and hematocrit counts are too high.

HAZBEEN Sat 08-Aug-20 13:49:35

Thank you everyone for your very kind words. I think its the fact that it was all done on the phone with no chance to ask questions once I had taken in some of her comments that has unsettled me.
Besides this I am also waiting to speak to a Cardiologist on Tuesday, another phone consultation after a few heart problems a couple of weeks ago which meant going to A & E. I also have osteoarthritis in both knees, one hip and my hands, have high blood pressure, depression and anxiety oh yes and gall stones!! I am not one for doing things by halves!
If it hadnt been the weekend I would have already phoned but I am trying to be very good and not ask Dr Google anything.
Doodle I looked at that website and I can see it will be very good once I have the name of whats wrong as I didnt take that in on the phone.
Ijustwantpeace I am in Surrey.
Fingers crossed all the stuff she said she was sending me will come on Monday.

Doodle Sat 08-Aug-20 15:45:09

ijustwant my DH has the JAK2 mutation as well but he has polycythemia Vera. There’s more of you around than you may think hazbeen . 😊

HidinginSpain Sat 08-Aug-20 17:11:46

Can a Grandad respond using Granny's login? I have ET, diagnosed about 4 years ago. First they found the 'T', which is often caused by some other disease. I was tested for bladder, liver, kidney, stomach, bone marrow and bowel cancers. Ruling these nasty things out was extremely good so I was pleased to be awarded the rare 'E' to go with my 'T'. I have a a cause, not an effect.
Now let's get the good news out in the open, with a phrase which recurs in publications: 'ET typically does not shorten life expectancy'.
I've had no symptoms. My condition arose on my GP's screen and now continues quarterly, purely as numbers on my Consultant's screen. I say hello, she asks how I am and I respond, every time, that I'm fine and I only know I'm ill because she tells me I am.
My first consultant put me on Anagrelide and my count plummeted but I got aches, pains and palpitations. Guys in London studies ET so I attended, for them to monitor my ongoing case. They said it was far too early for that drug and put me on Hydroxycarbamide (also known as Hydrea). My readings went back up so the dose has been gradually increased whilst the reading, annoyingly, remains just above where the consultant would like it to be.
My research says there are cancers and Cancers. All the time I have one with a small c I can live with it. Literally, it seems.
PS. I found two more Gransnet threads about ET. 1268804 and 1259110. There's more there to read, with useful links.

HAZBEEN Sat 08-Aug-20 17:23:10

Thanks for that HidinginSpain. That was the name of the treatment she said but I had forgotten it Hydroxycarbamide.
Now I know the treatment can I assume its "ET" which I have seen on that website bloodcancer.org.uk?

Doodle Sat 08-Aug-20 17:41:15

hazbeen it is likely that you may have ET because you are producing too many platelets but not because you have been suggested hydroxycarbamide. My DH, as I said, has polycythemia Vera (too many red blood cells) and he too is on hydroxycarbamide..
Sorry I might have said this before. I believe there are three types of this bone marrow dysfunction one where the bone marrow produces too many red cells, one where it produces too many white cells and one where it produces too many platelets. Depending on which one you have, they all have a different name. I think Hydroxycarbamide may well be given for all 3 . I hope you are beginning to realise now this is not a life sentences and you can live a normal life with this.

Doodle Sat 08-Aug-20 17:43:25

I think the one for too many platelets is as hidinginspain said. Essential thrombocythaemia.

HAZBEEN Sat 08-Aug-20 17:47:29

Hi Doodle yes thats what I have too many platelets.
Having read what everyone has said I do see its a condition that can be treated. Now I am going to wait for that letter from the doctor. Just wish it would hurry up!

Calender37 Sat 08-Aug-20 20:05:16

Dear HAZBEEN - I sympathise completely with you over your reaction, especially as you were contacted over the phone. (We all understand about telephone contact becoming more the norm currently). However, this has happened to me several times and we are taken unawares at the time, and usually have little time to collect our thoughts or responses.
Some 19 years ago after a bone marrow test I learned that I have a blood gene mutation known as Factor V Leiden and had to ask many questions to gain an understanding. In addition to a host of co-morbidities, recently I was casually diagnosed as having Distal Sensory Neuropathy and probably Amyloidosis. I had to fight to get correct and detailed explanations by asking questions so that I could understand the effects and prognosis. It is very clear that in today’s ‘medical world’ it is incumbent upon the patient to raise questions of those who are treating us. I have always believed that if a patient knows about and understands what is wrong with them, it creates a better relationship with the Practitioners. I sometimes wonder if it is realised just how much angst a patient suffers when insufficient explanations are given and no one gives them the chance to collect their thoughts and ask questions. It would be brilliant if ‘reassurance’ could be available on prescription-it should come automatically but sadly in the ‘kick and rush’ of Life today it doesn’t! My best wishes to you in the hope that everything is explained in detail so that you can deal with whatever lies ahead for you. Please don’t forget that it is your perfect right to ask questions and receive adequate answers.

Hetty58 Sat 08-Aug-20 20:15:02

There is also myelofibrosis, where the bone marrow produces too many collagen fibres, so inhibiting blood cell production.

blossom14 Sat 08-Aug-20 20:51:39

My DH has this condition and has been attending Haematology Clinic for over 10 years . He is now on Anagrelide after trying other drugs. I think it is finding the drug and dosage size that can be the key to dealing with it. His platelet count is currently very good, but he is monitored every 4 months..

HAZBEEN Tue 11-Aug-20 12:02:38

Well I finally got fed up waiting (I know it was only a few days!)
so I emailed the Haematology unit. I got a reply from the doctor today. It is Essential Thrombocthemia with the JAK2 mutation.
I have started reading up beginning with the website Doodle recommended so I am more aware when I finally get the stuff from the hospital through.
Thank you all for your replies and suggestions, Gransnet at its best yet again!