Hello!

[ClaireyCS]

Hi. I'm Claire. I was diagnosed with Essential Thrombocythemia JAK2 in December 2018 after 18 months of feeling blahhh. My GP didnt really know me before this point as I had always been fit, well and super active!

[Aneliv9]

I don't know if you have a specific question,but after my initial shock,i just realized that except some chances of disease to progress to MF, life expectancy is like rest population.

[Jlah]

Hi Claire. Similar diagnosis last October. My mum has it too and is alive and kicking at 75. My nan had it and reached the healthy age of 97. So it affects us all differently but many people live a very normal life. Best wishes. Jacquie

[Aneliv9 in reply to Jlah]

So ot was 3 generations inherited in your family??

[Jlah in reply to Aneliv9]

Yes. I’ve donated some of my blood for research into the genetic nature. It’s not hereditary as we were not born with it. Sadly for me the ET is progressive with significant fibrosis. It was diagnosed when I had a stroke last year so often I don’t know if symptoms are ET or stroke related although I think they are fairly similar. I hope the medication works for you and like many people with ET you have many many years ahead of you. Jacquie x

[Aneliv9 in reply to Jlah]

Do you still have ET or MF? Cause you mentioned significant fibrosis.Also how can't be inherited? It is just coincidence?

[Osteomyelio in reply to Jlah]

How does the fibrosis seem to affect you? Do you know why you have so much fibrosis?

[Jlah in reply to Osteomyelio]

I had a bmb. I’m not sure how it affects me although I continue to have mini clots and also bad low back pain plus night sweats but I think this is also ET symptoms.

[mbr8076 in reply to Jlah]

Hi Jlah,

This is the first time I heard anyone on here state their ET was hereditary. I suspect my Dad had it but he is deceased 34 years but his first blood clot was in his 50’s and actually died of a stroke at 62:/ I had a heart attack @ 58 and my cholesterol was 190 so it was due to a blockage of blood

clots and months later I was diagnosed with ET JAK 2+. Every article I read states it is not hereditary and this is what I tell my 6 kids so they do not get discouraged:/

[hunter5582 in reply to Jlah]

Following the thread of this conversation. There is a familial variant of MPNs, though it is very rare. The thinking seems to be that the predisposition to developing the acquired mutation is genetically determined. From Tashi et al "The strongest association discovered so far is the presence of JAK2 46/1 haplotype, and subsequently, many studies have found additional variants in other genes, most notably in TERT gene. However, these still account for a small fraction of familial MPN, and more in-depth studies including whole genome sequencing are needed to gain better insight into familial genetic predisposition of clonal MPNs." ncbi.nlm.nih.gov/pubmed/290... .

While I am the first person in family with the JAK2 mutation (was ET - now PV), my daughter is also positive for the JAK2 mutation. She is in her mid-thirties and at this point only presenting with borderline thrombocytosis.

I hope we all learn more on this topic soon.

[Osteomyelio]

This website has been helpful for me, I hope it helps you as well

[fee13]

I think families may have a susceptibility to developing an MPN so could be more proned to develop one.

[JackLina]

My diagnosis was slightly longer ago than yours, January 2018 but exactly the same regarding reactions. I had been diplaying symptoms for many years, which were not acted upon or recognised for what they are by my GP or consultant.

Diagnosed with ET, JAK2+ and surrounded by people who have little or no knowledge is a very lonely and annoying situation to be in, I find!

Swinging between determination, pain, fatigue and extreme anger; my ife has altered radically.

Help in this area of medicine is so needed yet, as mentioned previously on these pages, the comparative 'few' who would benefit from expensive research does not warrant the financial input it would take to discover a cause or a cure. For now, we can be thankful for this excellent space, which allows us to vent our emotions and share experiences.

Thank you Macz for all you have done to make this a 'peace haven' for us all. x

[Mazcd Partner MPNVoice]

Hi Claire and welcome to our forum, any questions you have please ask, and also, have a look at our website mpnvoice.org.uk, it has lots of very useful information on there. Kind regards, Maz

[Footy2112]

Hi, Me too. Welcome. Are you having any treatment yet?

[ClaireyCS in reply to Footy2112]

Hiya. Yes I'm on daily aspirin, sertraline and hydroxycarbamide 500g x 5days and 1000mg x 2 days. Are you?

[Footy2112 in reply to ClaireyCS]

Hope it goes ok for you. You’ll have seen from the welcome that there is a lot of great support here from your fellow MPNers👍

[azaelea]

Welcome to this marvellous forum and good luck with your future. I'm also ET JAK2+ . Regards Fran

[Jlah]

ET is not hereditary but they think there must be a gene that is which can then mutate to jak 2 positive. My siblings don’t appear to have developed it. Jx

[hunter5582]

Well welcome to the MPN club. Not a club any of us really wanted to join, but at least you have found a good place for support and information. If you have not already had it checked, it is important to know what your JAK2 Mutant Allele Burden is. Less than 50% is indicative of a milder course of the MPN. It will also be helpful to learn more about the role that the JAK2 mutation can play in your overall health. In addition to driving hematopoiesis, the overactivation of the JAK-STAT pathway can increase your body's production of inflammatory cytokines. This cytokine overload is thought to cause many of the secondary symptoms people with MPNs experience.

You have plenty of time to learn about all of the above. ET is unlikely to significantly decrease the length of your life, though it can impact quality of life. I was symptom free with ET for 25 years. My ET progressed to Polycythemia Vera about 6 years ago. I am still mostly symptom free even with PV. If you have not already sought out consultation with a MPN specialist, that is worth the time. Many docs, even hematologists, do not have the KSAs to provide optimal care. With a MPN rate of occurrence around 1/300,000 most docs rarely if ever see a MPN patient. Here is a link to patient-recommended MPN-expert docs mpnforum.com/list-hem./ .

All the best.

[ClaireyCS]

Thank you everyone. I've done lots of learning since December. I'm a member of support groups on facebook but a newbie here x

[Jschwab]

Hi Claire!

Welcome!!