New here...Questions about MDS del5q

[Honeybun]

Hi all,

I have been reading your forums since I was recently diagnosed in June with MDS del 5q with 7t chromosone as well. I am currently on a watch and wait, and told I will require transfusions then a SCT.

I am not really getting any answers at Royal Perth regarding what to expect, as I see different registrars that don't seem to know much and I don't see the Consultant who does (except on diagnosis).

I can't seem to find much information on del 5q with 7t. I read that mutations with chromosone 7 was not as good as if I just had del 5q. The registrar didn't tell me I had the 7t on diagnosis, I read it later on my doctors letter. He did confirm it on the next visit as I thought it was a typo.

He also was very doom and gloom about the future SCT, emphasising more on people dying than surviving that it has put the wind up me!

Can anyone shed any light on del5q, 7t and it's progression please. Any info would be appreciated.

Oh I'm 45.

Thanks

[Whizbang]

Honey,

You really need to get yourself to a Center of Excellence (COE), for your treatment, if the dr. is telling you that half the people die after SCT, then he is probably referring to his experience, and not what reality is with today's statistics (run don't walk away...) Find yourself some experts...

Many advancements have occurred in the last decade in BMT/SCT, and many factors go into accessing your final risk:
Age
General Health
Support group
Transplant team
Donor match (do you have siblings that might be considered a match?)

These are just off the top of my head, do research on this forum, and you'll learn a lot...

I too am 45, and if my odds were 50/50, I'm not sure I would proceed with a BMT either (although I might)...

You can follow my progress here (there are many here with positive outcomes):
http://forums.marrowforums.org/showthread.php?t=3792

It's won't be a smooth road, but if you line up the correct path, odds should be in your favor...

God bless...

[sbk007]

If You go to bethematch dot com you'll see the survival stats for
SCTs by disease for MDS the 1yr rate is 60%. The data is from2001 to 2010 but from the reading I have done its about the same in 2013. Don't mean to scare anyone but your doctors should be telling you the odds 1yr, 2yr,3r,etc.
In any case 50 %, 40%, 30% is better than Zero.

[Chirley]

Hi Honey, sorry to see you're getting the public hospital run around. Can you see a consultant haematologist privately in his rooms using Medicare and then just attend the hospital for any treatments or investigations you might need?

I know Perth hospital has a good reputation but like all public hospitals you only get to see the consultant if something is wrong and you don't want that.

For the benefit of our international friends on this forum.....Perth is over 3000 kilometres away from the nearest specialist cancer centre.

Australia's population is only 23,000,000 spread over a huge land mass and Perth is the greatest distance from the east coast and most of the specialist cancer services.

Honey, have you joined the Leukaemia Foundations "Talk Blood Cancer" telephone forum? If not, I suggest you Google it and email them. People with MDS from all over Australia can get together and talk to each other once a month for the cost of a local phone call. They also have guest speakers on various topics from time to time.

Hope to speak to you soon.

[Honeybun]

Thanks for the replies

The registrar didn't give me a percentage of living or dying with a SCT, he just talked about the negative, that being dying, then being positive or just not saying anything at all. This was about 5 mins after receiving news of my MDS. So was still a bit in shock. But you have given me something else to look up.

Chirley I have read many of your posts and find them very informative..thank you. I have thought of going privately and asked the registrar last appt, but he said the consultant was one of the best, it's just I don't see him. The "doom and gloom" registrar has gone off on another rotation so will have some one else in September. I will ask again and see how it goes this time and probably do as you suggested, if I am not satisfied.

I did meet my Leukaemia co-ordinator last visit who gave me info about the phone chat. I will consider it when we get a land line as I only have a pre paid mobile at the moment.

Does anyone know anything about my other question about del 5q 7t?

Thanks again all. I really appreciate it.

Honey

[Greg H]

Hi Honey!

(Typing that makes me feel like a waitress in Baltimore, where they call everyone "hon.")

Generally, mutations in chromosome 7 have been associated with a poorer prognosis than some other mutations, and having multiple mutations is also not as good as having a single mutation.

However, at least one study found the opposite about 7:

http://www.mdsbeacon.com/news/2011/01/28/mutations-in-chromosome-7-are-associated-with-better-mds-prognosis-than-other-chromosomal-abnormalities-ash-2010/

It make be hard to find much solid research specifically on the combo of 5&7 mutations. I'm not exactly sure what 7t means. In US nomenclature, each chromosome has a long arm and a short arm. The long arm is q. So del 5q means the long arm of 5 is missing. The short arm is p. so del t5p would mean the short arm of p is missing. I think t is used sometimes to indicate a translocation -- when a piece of one chromosome gets glommed onto another chromosome, but that typically looks like t(8;14)(q24:q32), which means "Chromosomes 8 & 14 have swapped out sections 24 through 32 of their long arms."

So, you might need to ask you doc what 7t or del 7t really means. Or maybe someone else here knows.

If you aren't in a position to be having transfusions, and your counts aren't dangerously low, then watch and wait makes excellent sense.

In the US, it's pretty standard practice to treat folks with (lenalidomide) when they have del5q and begin to need a lot of transfusions. But I don't knwo whether that drug is available in Australia. It may also be, since you are so young, your doctor figures a transplant makes more sense than a drug that is only going to work for a finite period of time.

Still, might not hurt to ask.

Take care!

Greg

[Honeybun]

Thank you Greg

I probably wrote it wrong I admit, not up with all the codes just yet . I know I have del 5 q deletion of the the long arm of the 5th chromosone with a translocation of the 7th chromosone. So I hope that is clearer now.

The consultant will recommend me for lenolidomide, but at this stage it is not available on the PBS in Australia and will cost over $5000 a month if I want to pay for it. The consultant thinks it may be available in December, but I will still need to qualify. So no guarantees yet. Just have to wait and see.

Honey

[Cheryl C]

Hi Honey

Welcome from a fellow Aussie. It's a big shock to be diagnosed with MDS isn't it. I'm sure all of us vividly remember that and empathise with you.

Australia doesn't have "centres of excellence" for MDS that I know of. The major hospitals in each state would unofficially fall into that category though. I see a private haematologist in Sydney where I was living when diagnosed and she referred me to the Royal North Shore Hospital BMT specialist when I was seriously ill in 2011. I have found both specialists to be excellent. I'm pretty sure Lenalidomide is available via drug trials. Have you been advised about accessing them? I personally am avoiding using any drugs until I have to but I have a different variety of the disease from you.

My best advice would be to do as much research for yourself as you can. There is a lot of information on the web. If you haven't visited it yet, the Aplastic Anaemia and MDS International Foundation website is very helpful - http://www.aamds.org/about/MDS - and even Wikipedia has a surprisingly detailed webpage on MDS.

Re the BMT/SCT yes there are major risks attached and you need to go into this with your eyes wide open. However age is on your side. GVHD (Graft Versus Host Disease) is one of the biggest risks, and sadly we have had people on this forum this year pass away from GVHD after a successful engraftment. Take a list of questions with you when you visit your specialist. This Mayo Clinic document has some suggestions: http://www.mayoclinic.com/print/myel...l&METHOD=print

I wish you all the very best as you continue to learn more and to make major decisions about your treatment.

God bless
Cheryl

[Chirley]

Honey, someone on the Leukaemia Foundation forum is on Revlimid. Celgene granted compassionate use.

If you contact the LF they may be able to put you in contact.

[Greg H]

Originally Posted by Honey

I probably wrote it wrong I admit, not up with all the codes just yet . I know I have del 5 q deletion of the the long arm of the 5th chromosone with a translocation of the 7th chromosone. So I hope that is clearer now.
Honey

Hi Honey!

I have to look up the codes every time myself. I figured the "t" was probably for translocation.

Ouch! On the cost of Revlimid. If it turns out that's a reasonable option for you, maybe the group Chirley suggests cold help.

This disease always seems to involve a lot of tough decisions between a variety of unpleasant options.

Take care!

Greg

[Honeybun]

Has anyone started a thread with all the acronyms on it? Sort of a dictionary even including other definitions such as the type of drugs etc. It's like doing a cryptic puzzle lol working out members signatures and reading some posts. It would be very useful for newbies like me....although I feel quite clever when I work one of the codes out on my own

Honey

[Greg H]

Honey,

Excellent idea. Here's a start. Maybe if other folks add to the list, Neil will eventually collect it all together in a big long list and put it someplace appropriate.

MDS - Myelodysplastic Syndrome
AA - Aplastic Anemia
MAA - Moderate Aplastic Anemia
SAA - Severe Aplastic Anemia
VSAA - Very Severe Aplastic Anemia
PNH - I can neither spell nor pronounce what this is.
BMB - Bone Marrow Biopsy
BMT - Bone Marrow Transplant
STC - Stem Cell Transplant
MUD - Matched Unrelated Donor
del5q - when the long am of chromosome 5 is absent
8+ - Trisomy 8 when there are three copies of Chromosome 8
7- Monosomy 7 - when there's only one copy of Chromosome 7.
(del, +, - can be applied to any chromosome)
NIH - US National Institutes of Health "Big Place, Lots of Smart People"
RA- Refractory Anemia
RCUD - Refractory Cytopenia with Unilineage Dysplasia
(Only one cell line is hinky)
RCMD - Refractory Cytopenia with Multilineage Dysplasia
(More than one cell line is hinky)
RAEB - Refractory Anemia with Excess Blasts
AML - Acute Myeloid Leukemia
PRBC - Packed Red Blood Cells
TX- Transfusion

Okay, my fingers are tired. Someone else take over!

Take care!

Greg

[Honeybun]

ooooo you forgot TERT. That one has been bugging me on your signature. So I am cheating and asking for the answer.

[Chirley]

Honey here is the email address for the MDS coordinator LF. Her name is Rebecca.

MDS@leukaemia.org.au

If you go to Talk Blood Cancer, click on forum, scroll down to MDS, then look for posts by Rachael.....you will see her story with del 5q and how she was helped to get compassionate use of Revlimid.

Last I heard from Rachael she was doing very very well on the Revlimid. When people stop participating online or on the telephone forums its a good sign that they are feeling well.

Chirley

[Honeybun]

Thank you Chirley....I will go have a looksie now.

[Greg H]

Originally Posted by Honey

ooooo you forgot TERT. That one has been bugging me on your signature. So I am cheating and asking for the answer.

Hi Honey!

TERT is telomerase reverse transcriptase. It, along with TERC (telomerase RNA component) and DKC1 (dyskerin) make up the enzyme telomerase, which tacks some nonsense DNA onto the ends often chromosomes in your bone marrow stem cells whenever they divide to reproduce (and make blood cells).

When chromosomes divide, they don't necessarily do it cleanly, and the ends get shortened with each division. So, the chromosomes have some nonsense at their tip ends called telomeres. That way, the stuff that gets shortened isn't important genetic information.

Most cells can only divide a fixed number of times before the telomeres get too short and the cell stops dividing. But bone marrow stems cells have to keep on dividing over again. So, the telomerase enzyme adds back some more telomere after every division, so the blood factory can keep cranking out cells. Even with all that, your bone marrow telomeres get shorter as you age.

I have a mutation in TERT that messes up this whole telomere repair system. When measured a couple of years ago my white cell telomeres (they measure the white cells because here are no chromosomes in platelets or red cells) were the length of a normal 95 year old. Some other folks around here have a TERC mutation, and, like me, are participating in an NIH clinical trial of Danazol, a synthetic testosterone that gives the telomerase system a kick in the behind.

I was having transfusions every two weeks, but have now gone more than a yer with no transfusions.

This whole telomere, TERT, TERC thing is a very rare cause of a rare disease (some folks in the trial are diagnosed with MDS and some with AA). You can read some more explanation in this thread.

Take care!

Greg

[Chirley]

I've missed you around Greg. Wish I was as eloquent as you.

[Honeybun]

You do just fine Chirley.. I enjoy your posts very much.

Thank you Greg for your post, I feel like I will be entitled to an honourary graduation in Medicine when I come out the other end, there is so much to learn.

[billyb]

http://ghr.nlm.nih.gov/

[Honeybun]

Whizbang I did look up if we had any COE's and there is one in Melbourne and one in Tasmania in Australia.

We do have an option to transfer east temporarily with Bjay's work, but it would be to New South Wales as Bjay's family is there and that would be good for support for both of us. I am not sure what Sydney's hospital is like? We would be based still several hours from Sydney in Canberra if we moved, and about 6 hours from family. Just another option.

Does anyone have any advice on Sydney's or Canberra's hospitals.

Honey

[Chirley]

I'm not sure but didn't Olivia Newton John just open a new cancer centre in Sydney....maybe it was a breast cancer centre seeing as that's what she had? But then you remember that Doctor O'Brien who used to be on RPA and died from brain cancer? I think it was his dying mission to get a cancer centre up and running in Sydney too.

I don't know much about the hospitals in Sydney but that news item about that 17 year old girl lying on the floor in the ED waiting room for 9hours while waiting to see the doctor for her appendicitis does make me wonder about the state of NSW hospitals. Apparently it's not uncommon in their hospitals.

Chirley

[MDSPerth]

Originally Posted by Honey

Thanks for the replies

The registrar didn't give me a percentage of living or dying with a SCT, he just talked about the negative, that being dying, then being positive or just not saying anything at all. This was about 5 mins after receiving news of my MDS. So was still a bit in shock. But you have given me something else to look up.

Chirley I have read many of your posts and find them very informative..thank you. I have thought of going privately and asked the registrar last appt, but he said the consultant was one of the best, it's just I don't see him. The "doom and gloom" registrar has gone off on another rotation so will have some one else in September. I will ask again and see how it goes this time and probably do as you suggested, if I am not satisfied.

I did meet my Leukaemia co-ordinator last visit who gave me info about the phone chat. I will consider it when we get a land line as I only have a pre paid mobile at the moment.

Does anyone know anything about my other question about del 5q 7t?

Thanks again all. I really appreciate it.

Honey

Honey, I notice you are from Perth Western Australia. My partner Paul was under the care of Julian Cooney at Royal Perth Hospital. It can be frustrating at times when you only get to see the Registrars, and they seem to be of varying degrees of informative.

I understand that Royal Perth Hospital is the only place in Western Australia that deals with SCT.

You can contact me privately if you would like to chat more.

Sandi

[Cheryl C]

For BMTs Royal North Shore Hospital and Dr. Will Stevenson are really good if you end up in Sydney. He doesn't pull any punches but I like that in a doctor.

[Honeybun]

Thank you Billy for the link.

Sandi I did send an email, perhaps it didn't get through. I am still on L plates navigating around the forums. I will PM if I did not get a reply from you.

Cheryl, Bjay is familiar with that hospital, so we will look into your suggestion should we relocate.


Honey <===== thinks the forum family are AWESOME!

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(¸.•´ (¸.•` ¤ Thank you!