New diagnosis update

[ConniesDad]

Hi all.

Well I had my phone consultation with haematology department yesterday (10/6). I was expecting a call from the consultant as I was waiting for the results of genetic tests for CALR, MPL and NGS panel. However I was contacted by an advanced clinical practitioner! He was able to tell me the results of the tests ( positive for CALR with 52 base pair deletion exon9 and NGS panel shows variant ASLX1) but when I asked what this means for me, all he could offer was that I would need to speak to my consultant about that and that he would send out an appointment with him for 3-4 weeks!! Given that I was told at my consultation in April that my next appointment would be in 2-3 weeks but actually was 6 weeks I estimated that my next appointment could end up being more like 8 weeks away!!

I was in total turmoil- as newly diagnosed PMF I am still trying to get my head around the condition and what the significance is of all these variables. I phoned my gp to ask for ana alternative referral to another hospital or for a second opinion but he managed to talk me down and offered to contact the haematologist to try and sort out the communication difficulties. I eventually got a call back from the haematologist who did manage to answer some of my questions (apparently I have favourable karyotype) and offered some information about future treatment although he still wants to stick to a wait and see approach or possibly start me on interferon. He said that as I didn’t have any constitutional symptoms he has down graded my risk score to low. I had to point out to him that the reason I had been referred to him was that splenomegaly had been found following a ct scan to try and get to the bottom of why I had lost more than 10% of my body weight in 6 months and that I had been having severe itching following showers for 4 years and that I am currently unable to work due to crushing fatigue on a daily basis!!! He decided to upgrade my risk rating back to intermediate 1.

Sorry for the rant but I’m just feeling very overwhelmed at the moment and my confidence in the care I’m getting has been knocked.

Can anyone of you wise people out there offer any advice on what I should do?

[Mostew]

Speak to haematology nurses.

they at least listen and help you feel a bit better ( not physically but emotionally )

[Mwalimu]

Understand totally how you feel. The only advice I have is to be persistent but reasonable. Decide what you want and go for it. I have always found it is useful to talk to the consultant's secretary on the phone. I also e-mail afterwards to ensure there is some kind of record. Good luck! Sallie

[ConniesDad in reply to Mwalimu]

Thanks for the advice. Garry

[Chaz1]

Sorry you've had a bad experience. Unfortunately there is a common issue with this. Are you seeing a MPN specialist or just a Haemotologist? Sometimes it's worth having an appointment with a specialist to just reassure you. I think a lot of patients end up having a second opinion. Don't be scared to ask your GP again for a referral. You can say where you want to go & who. Originally my husband saw a Haemotologist that had an interest in MPNs but we only actually saw him at the point of diagnosis - they changed the appointment so he could have appointment wuth us. He wasn't very informative & hubby left not actually understanding what he had, nor why I was on the verge of tears. He'd not realised the book that was being waved in his face actually said blood cancer on the back which us what I was seeing.

After a second appointment with a member of the team I looked at test results & doubted the diagnosis & care plan so sought a second opinion. GP said we should ask the consultant to do it, my response was that hubby had bern to GP for help as was very symptomatic but even with diagnosis he wasn't having anything to help & still felt awful, she soon referred him & thank god. I can't say the new hospital are fantastic, they aren't all the time & leave me frustrated but they up graded his diagnosis & started him on a different care plan. They immediately had picked upon the same thing in his results as I had.

Your consultant might be right but you obviously are lacking a bit of trust now, will you always doubt them? That won't make for a good mental health so I'd suggest getting a second opinion just to put your mind at ease. Good luck & stay safe x

[ConniesDad in reply to Chaz1]

From what I managed to get out of the consultant he specialises in MPN’s and has years of experience. He also does stem cell transplant as well.

I think the issue is communication and my elevated expectations!!

I am going to press my gp for a second opinion just for my own reassurance and hopefully if my consultant’s diagnosis and care plan hold up then I will stick with him going forward.

Thanks for the advice and I hope yr hubby’s hospital experience improves too

Garry

[mhos61]

Hi Garry,

You deserve a rant!

We all understand the difficulties hospitals are under at the moment, but equally how this is impacting patients. I can empathise with how you’re feeling right now, as a newly diagnosed patient you need answers.

I find it concerning that you had to point out to your Consultant that you were indeed symptomatic. Did the Consultant explain the significance of the ASLX1 mutation?

If you’re not happy with the way things proceed from here, you are entitled to a second opinion, but unfortunately this will involve a wait too. I note from a previous post you attend the Sheffield Hallamshire Hospital. This would indicate you’re not too far from Manchester. There is an MPN Specialist (Professor Tim Somervaille) at the Christie Hospital in Manchester, which wouldn’t be too far for you to travel. I have heard very good reports about him.

Mary

[ConniesDad in reply to mhos61]

Thanks Mary. I feel better after a good nights sleep and getting it off my chest.

I think the fact I had to point out my current symptoms was the trigger in my failing trust.

The consultant did talk through the implications of the aslx1 mutation and the increased risk of progression to AML. He also spoke about the transplant option and the possible risks with that too.

You’re right I do attend RHH in Sheffield and Manchester isn’t too far away. I was initially intending asking for a referral to Prof Harrison at Guys but recognise she’s probably in extremely high demand and so had considered asking for Prof Somerville instead as I had read somewhere that he is also very experienced and well respected in the MPN world too.

Thanks for your support

Garry

[mhos61]

Garry, ‘getting it off your chest’ is what’s great about this forum. We get it!

It’s in your best interest to get a second opinion with an MPN expert. Your haematologist shouldn’t be offended by this, more guided by their expertise.

I’m familiar with the RHH, my husband used to attend the Rheumatology clinic there, but now sees his Rheumatologist at the Graves health and sports centre. So much better for parking!!

Good luck with your decision.

[hunter5582]

You have every right to be disappointed and perturbed over the response you received. You deserve to have your docs give you a prompt and thorough explanation of what you results mean. Here is a terrific KISS explanation of the different types of mutations.

www2.csudh.edu/nsturm/CHEMX...

It is a fundamental truth (that I learned the hard way) that assertive patients receive higher quality care. Passive patients do not. The docs work for you, not the other way around. If you are dissatisfied with the response you receive, then you can do something about it. It is not up to the doc whether you get a second opinion. It is up to you. If you want a second opinion, it would be unethical for a physician to dissuade or refuse to provide you the opportunity get one.

Here is a list of patient-recommended MPN-expert docs

mpnforum.com/list-hem./

Note: you need a doc who is both and MPN expert AND has good patient relationship skills. The latter is just as important as the former. The best docs are those who are knowledgeably in the science of medicine and gifted in the art of healing.

Glad you weighed in on your concerns. We all deserve to feel heard. All the best to you.

[ConniesDad in reply to hunter5582]

Thanks Hunter

I’m still trying to get my head around the genetic mutations and what they mean for me. Hopefully the link will help me make sense of it all.

I will be taking an assertive stance with regards to my ongoing care but I do need to have a haematology consultant who is open and honest and able to give me good advice too. I’m going to press my gp to get a referral for a second opinion

Thanks for you support

Garry

[hunter5582 in reply to ConniesDad]

The genetic mutation link I sent you is a primer. It should help you start wrapping your head around it. Truly understanding it requires a more detailed understanding not only of genetics, but physiology, cellular biology, proteomics (study of proteins) and more. They key is to get the basic biology of how a mutation like CALR affects the kinase pathways and just how wide-reaching these effects can be. Getting the kinds of answers and understanding I would like may require going back to graduate school!

Glad to hear you are going to move forward assertively with a second opinion. This is not a "can I" get a second opinion situation with the PCP. This is "I require" a second opinion. "No" is not an option. There is "Yes sir" or there is "You are fired." That may sound a bit harsh, but to docs work on our behalf and at our pleasure. Certainly we all want our docs to collaborate with us in managing our own care and we need to foster a positive relationship - but never at the expense of accepting less than what we need.

All the best to you.

[redumbrella]

Hi Garry, like some of the other posters I would advise you to get a second opinion there is nothing worse than feeling that you are not being correctly looked after. I had a bad experience myself a few years back at clinic and it left me feeling very vulnerable. It was only on speaking to my Consultant some time afterwards that it was resolved. It was one of her support Doctors who caused the problem in the first place.

Wishing you all the best,

Garry