my brother was recently diagnosed

[redslw]

Hello,
Like many others, I was in complete shock when he got the diagnosis. He started showing symptoms 2 years ago, he had just been diagnosed with Lupus, so naturally I thought his tiredness was due to that condition. (he also has Type 1 diabetes.) I've done so much research but I'm still confused.

The dr. in PA has started him on Dacogen. (1st treatment was middle July). He is RAEB 1 and has the ASLX gene mutation, which I know puts him in the high risk group.
Like many others, I am trying to do everything I can for him - but am met with resistance and impatience. He raises his voice with me frequently, but that's OK. I know he is upset.
He is only 58 years old and my only sibling. (both of my parents are deceased).

I guess I'm just looking for support here. Does anyone live in the Northern VA area? I would really like him to go to Johns Hopkins as they are a center of excellence and was wondering if anyone has been seen there. The dr. seems to think a stem cell transplant is not feasible, and I do not agree!
I am at work now but will try and check in later.

[Whizbang]

Welcome edslw,

It's good to see you taking an active role in your Brother's life, I'm lucky to have 5 siblings (both my parents have also passed away), and when I was diagnosed (also high risk), first thing my Brothers & Sister did was get tested for an HLA match... For you it's only a matter of a cheek swab, hopefully when they did his BMB they tested it for HLA markers...

I too just started Dacogen a few weeks ago, and hopefully the two rounds I will receive will knock down my blasts to between 0-2%, which will be optimal for my BM transplant (BMT); not sure why your brother wouldn't be a candidate for BMT if you happened to be a match?...

I'm sure it's harder to get details second hand, but hopefully you will be able to lend your brother guidance and support...

God bless you both...

[redslw]

My brother is being treated in a very small town in PA. I called the nurse there and she said they didn't conduct those tests in her office. Do you know where I can get my cheek swabbed?
Good luck to you!

[ssdavi71416]

I would definitely go for a second opinion at a center for excellence or a large teaching hospital. The NIH is also in your backyard at college park, MD.

[MagicBob]

Originally Posted by redslw

My brother is being treated in a very small town in PA. I called the nurse there and she said they didn't conduct those tests in her office. Do you know where I can get my cheek swabbed?
Good luck to you!

What area of Pa. does he reside?

MagicBob

[redslw]

He live in Oil City. He's being treated in Franklin, PA. I want him to visit Johns Hopkins, as I live so close, but he is content trying the dacogen.

[evansmom]

I agree you should get your brother to a centre of excellence and get tested yourself as a possible match. The thing is that with a successful BMT, your brother's lupus would resolve.

[MagicBob]

Originally Posted by redslw

He live in Oil City. He's being treated in Franklin, PA. I want him to visit Johns Hopkins, as I live so close, but he is content trying the dacogen.

Your brother is very close to the Cleveland Clinic, and Dr. Mihael Sekeres is a leading expert in MDS.

I would not hesitate a minute in going there......wishing your the best.

MagicBob

[Chirley]

Lupus gets better with transplant?

My brother has lupus, maybe that's why they weren't considering him as a BMT donor for me.

Also one of my cousins has BAD lupus. She's only 18 and has had numerous PEs, lung damage, joint problems etc. she has had chemo etc. Her life expectancy is limited. I wonder why they don't recommend BMT for her.

This is something for me to research, thanks.

[triumphe64]

Originally Posted by MagicBob

Your brother is very close to the Cleveland Clinic, and Dr. Mihael Sekeres is a leading expert in MDS.

I would not hesitate a minute in going there......wishing your the best.

MagicBob

I second this idea.

[Greg H]

redslw,

Some folks do get pretty upset when they find out they have MDS -- most folks, probably. And some get fatalistic.

And some who haven't spent much time dealing with doctors figure that one is as good as another. That is really not true with MDS, which is a very rare disease. Many community hematologists treat very few MDS patients, so they know the basic strategies, but aren't as well educated about the latest and greatest. You brother's doc might be fantastic; it's hard to know.

So, it's really important to get a consult with an MDS expert. Johns Hopkins is great, NIH is great (and free, if you qualify for a clinical trial), Sekeres at Cleveland Clinic is great.

Take Care!

Greg

[susanML]

You are so true Greg - the NIH is fabulous if you can get a study - I had my treatment thru Dr Sloand and she was fabulous! Loved her - never did find out what happened to her. I thought of them again if this appt doesnt go promising at Northside.

[redslw]

Thank you for all of the great advice. I will keep pushing and prodding him. I even said that I would drive 6 hours up and back and take him where he needs to go. He is incredibly stubborn. For people with problems with lupus, I can recommend Dr. Susan Manzi at UPMC. People all over the country go to see her and she is the only dr. that thought to test my brother for MDS.
She is fantastic!
Sharon

[sbk007]

I couldn't find anything about an ASLX gene mutation.
My local hematologist got the BMB results from a Lab. The Lab supplied the report and the Doc just reads it and explains it. In my case he suggested I get a second opinion from his bigshot buddies @ Cornell-Weill, his diagnosis was the same as my local and what was in the BMB report. I agree, you need someone that has clusters of MDS patients like all those centers of excellence mentioned above.

[LizR]

My husband had the new Next-Gen MDS Molecular Profile done from Genoptix. I don't know if other labs do it or not. It tests the five genes most likely to show mutation in MDS that would affect prognosis. The five genes were ASXL1, RUNX1, EZH2, ETV6, and TP53 and shows the mutations detected and if they are clinically significant.

I researched all the genes but it is a lot to go through. It seems not just the different genes/mutations are important but the mixture of the mutations can be too. If your insurance will cover it, it did explain things much better than a regular BMB. It can test from just a blood draw - no bone marrow.

[Chirley]

Hi, it seems as if BMBs only look for specific chromosome problems (FISH). I think this is why a lot of people are told they have no cytogenetic abnormalities. I had blood karyotype done and with a very narrow range of testing (only tested for genes on parts of chromosome 1, 15 and X) and I have mutations or deletions on all the genes tested.

My BMB cytogenetics always came back negative.

I think with gene mapping more people will get a definite diagnosis and more specific treatment.

[LizR]

Chirley, you're right. Bob's FISH comes back normal every time but the MDS Sequencing came back with 2 of the five genes mutated. The report explains each one and how it relates to the research in MDS and it's use in diagnostics. It shows a chart that compares Probability for Overall Survival for those with mutations and those without. Eye-opening for sure but if it helps with the decision-making for BMT or not, I'm all for it.

As with everything else it's just another piece of the puzzle.

[sbk007]

Thanks for catching that. I was looking for ASLX and Google wasn't smart enough to correct me. I didn't know about this test and now have something to ask the doc about.

[redslw]

My brother had his BMB at Genoptix as well. He has a diagnosis of RAEB 1 with a score of 1.5 which I know is not too good (intermediate). However, it does state that "a clincially significant mutation is detected in the ASXL1 gene. The presence of this mutation is associated with an overall survival rate similar to that of patients in the next highest IPSS risk category". This means that he is high risk MDS, correct? I try not to freak but the survival rate is really low.

He is going to the dr. again today for his blood results, crossing my fingers. He will probably have the 2nd treatment of Dacogen after labor day.
Thanks for all of the kind words. This site gives me hope!

[Greg H]

Hey Red!

It doesn't pay to get too freaked out about the average life expectancy stuff -- there's a huge variation among individuals with the same scores. However, those numbers can help convince folks that this is a disease that will try to kill you if you don't fight it aggressively.

Dacogen can improve blood counts and reduce or eliminate the need for transfusions, but it is, ultimately a temporary thing. There are some other treatments out there that. Could be tried once the Dacogen quits working. But none of them are a cure -- particularly for a 58 year-old who would like to live to a ripe old age.

I would guess your brother is headed toward a transplant, unless the lupus or other factors make him a bad candidate. So, even as he pursues the Dacogen, it would make sense to have a consult with a good transplant doc, to look at e options and get the ball rolling, so to speak. It would be a really bad idea to wait until the Dacogen quits working or he converts to AML and try to do all that transplant prep at crunch time.

Take care!

Greg