ASXL1 Mutations

[MPN-MATE Admin]

Hi everyone...

Maria has posted on a previous topic 'NEWS" her latest news...

However, thought it might become lost in there so I have started a fresh topic - ASXL1 Mutations instead, as I too am affected by this mutation.


PLEASE SEE MARIA'S POST BELOW

Re: AXSL Mutation

Post by Lady in Red 01 » Thu May 02, 2019 2:04 pm

Hi Folks

Last week I received a letter from Professor Harrison at Guys London telling me the results of Gene Panel Test...

Sadly it has been confirmed I have the AXSL Mutation..
Thus I am now ET JAK2, AXSL,
MF Intermediate 1...

This came as quite a shock that I have
2 mutations ...

I'm currently on Hydroxycarbamide
1 Gram Daily...

I have been questioning Ruxolitinib as an alternative medication, however here in the UK I need to be at least Intermediate 2, to
qualify me to receive Ruxolitinib...

I now hope that with the AXSL in the mix I can transfer to Ruxolitinib...

All rather worrying and disappointing in a sense and fearful...

I would welcome any information from anyone in similar circumstances...

I wish you well and hopefully good prospects for the future in your MPN JOURNEY

All the Very Best to All
Maria

[MPN-MATE Admin]

Hey Maria...

Yes, I understand your concerns, now learning that you also have the generally considered adverse gene mutation ASXL1.

However, while it is generally considered an unfavourable finding... please remember to always remain optimistic Maria...

For me, it was February 2018, when I learned that I also have this ASXL1+ gene mutation, and not only am I still here... But I am also growing stronger as every day, week and month passes...

I personally believe that much my own success is due to my anti-inflammatory diet, intermittent fasting, and of course my exercise regime of cycling ever longer distances... And one should never underestimate the power of taking a positive stance when faced with adversity...

Maria, I am fully intent on doing my 20,000km cycle around Australia...

However, I do still have a the odd bad days, sometimes even a week where I might not be feeling as upbeat as usual, and I can usually trace it back to some type of 'cause & effect'...

This week, for example, I have metaphorically fallen-off my bike... Between the colder seasonal temperatures and all the work I am now involved with concerning the website, FORUM and Fundraiser... and am feeling quite spent. Hence, I am giving myself a few days 'Off the Bike' until I feel a tad more recovered...

We are all made just a tad differently from each other Maria... but for me personally, having something to be truly passionate about helps spur me ever upwards and onwards...

Helps me to focus away from myself a little too...

Please keep us informed as to your next specialist visit and outcome on a hopeful change of med's.

On the MF scoring systems, there is another one that they call - MIPPS70+

This scoring system, includes any High Risk (HR) mutations such as ASXL1.

However, as in my own case, you & I only have one adverse HR mutation at the present. Hence, I remain as Intermediate1, and we could still live for a great many more years to come...

So please try to allay your apprehensions for the time being Maria... and maybe find an all-consuming passion of your own...

Best wishes

Steve

[Lady in Red 01]

Hi Steve
Many thanks for editing my post and getting it in the correct place..
I very much like the Forum but I wasn't sure where to post it..
Perhaps you can point me in the right direction please, never have been good with Navigation...
Sorry to hear you are presently taking a break from the Cycling due to being rather spent as such..
Yes the Colder weather must be of hinderance to you sadly...

Do you know anything of TP 53, I have met someone with our issues but also has the above..
I am rather hopeful that this is not another Mutation ?
The acquaintance talks of it as being quite
" Deadly "....
I'm not disposed to ask more questions as this sufferer is rather elderly and feeling very low at present...

I have requested a consultation to request a change of medication from HU to Ruxolitinib at the least Pegasys as has been suggested to me...

My focus is currently on matters other than my disposition with MF..
My husband is rather unwell and receiving hospital treatment..

You can take the RN out of the Hospital Environment, but I will always be a Nurse..
Spending the day at my former place of employment yesterday re affirmed that to me...

In fact I will be doing some work on a Volunteer Basis which I can do, as and when I am happy to do so..

Spontaneous Reaction to seeing things yesterday....

My Best Wishes to Yourself and members, I see there are new members Congratulations
Maria

[MPN-MATE Admin]

Hi Maria...

Your post was not so much in the wrong place. It was just a New Topic. There is a New Topic button Maria for anytime you are starting a new thread (topic) etc.

I am sorry to learn that your husband is not feeling well at the moment and naturally wish for him a very speedy recovery.

Maria, there are other avatar pictures available for you too on the FORUM, should you do wish to change your image. However, if you do need a hand with that just Private Message (PM) me and I will see what we can find for you as an alternative etc....

Best wishes

Steve

[Hatchie]

While the scientific literature suggests that the ASXL1 mutation is associated with high risk, anecdotal evidence from some doctors and patients suggests it may not have as much impact as initially thought.

It's been a while since this topic was first discussed. I'm interested in hearing the experiences of fellow ASXL1 mutation carriers.

Has the disease progressed according to recognised calculators like DIPSS etc?

Has it advanced to AML?

Has it led to bone marrow failure requiring transfusions?

Does age make a difference? I'm relatively young (early 40s) for a myelofibrosis patient, and there is evidence to suggest that my disease may progress faster than in patients aged 60 or older.

I'm curious about the collective evidence and experiences we have as a group regarding the progression and impact of ASXL1 mutations in myelofibrosis patients.

[MPN-MATE Admin]

Hey Craig,

Just so happens that I am also a patient who has the ASXL1+ (HRM).

In my estimations & general read research into ASXL1, there appears to be a great deal of diversity in findings, and like with all things MPN, "Nothing truly concrete" where evidence is concerned, in my view...

However, I was diagnosed in 2016. I am Post ET / MF (CALR (2)), w/ ASXL1 & acquired Von Willebrands Syndrome (acquired VWS - 2). I am recently 65yo, & until very recently, (prior to my 4WD collision), I have been largely managing my MPN quite well...

While there remains a great many inconsistencies between MPN cases, it seems virtually impossible to accurately form a true prognosis, in my view...

One might do better to simply determine to live one's life the best way that one can, for as long as one can...

There is a plethora of research out there on HRM, and much of it continues to report that the majority still find a poorer prognosis being recorded for ASXL1 mutations... However, there are always other findings too...

In my view, all I really know for certain is that I am still here!

Best wishes

Steve