MDS undiagnosed for 7 years?

[Bossywife]

In 2008 my husband (50 yrs old at the time) was admitted into the hospital with rigors and fever. He hadn't been feeling well recently, and had some blood work done the day before. His doctor had been trying to reach us all day to tell us he had diabetes.

In the hospital, we also discovered he had low Platelets, WBC, and RBC. He was put on 3 kinds of anti-biotics and the fever went away and he was released with no explanation of what had happened.

Through the years, he gets his CBC done with his AIC (diabetes) every 3 months, and his platelets have always been low (between 40-90) as well as his WBC and RBC. This has always bugged me, but his doctor just always told him that "some people have low platelets".

Flash forward to 2014 when his wife (me) has had enough, and insists on seeing a specialist. I started noticing he looked pale, and was losing weight (he is not a big guy). We saw an Internal Medicine doctor in July 2014 who also said it was probably nothing. Then we saw a Haematologist in Dec 2014 who told us right away that he suspected my hubby had Hairy Cell Leukemia. It was ruled out a week later. Then we waited for a Bone Marrow Biopsy. He works at the Cancer Clinic and happened to be there on a day when one of the doctors had room to do one, and shuffled him in.

First one March 15 - dry tap
Second one March 30 - dry tap, but able to diagnose MDS RAEB-1 with moderate fibrosis and unspecified blasts

SO, here we are. Waiting for the Haematologist to come back from vacation so we can see if he's going to start Azacitidine (the oncologist wants to start it asap).

I've been reading and studying everything I can about this thing, and freaking myself out about prognosis numbers. I realize that this is mostly a disease of the elderley, so the prognosis numbers are quite skewed that way. My husband is young in comparison, healthy and still plays hockey and works around the farm. He has no bleeding or brusing, and he feels fairly good except for some unexplained tiredness.

I'm confused about something with the Azacitidine... if it fails, I'm reading that prognosis is poor. 4-6 months. Would he be better off not doing it? he seems to be fine as is. Does anyong know anything about this?

[PaulS]

Hi Bossywife -

Take a breath and don't panic. Your husband is relatively young and fit and that is all good. I don't think the expectancy numbers you are citing are accurate or especially relevant. Sounds like he's been living with MDS for some time.
I do have a couple of concerns/suggestions/questions -
First, understanding his blast percentage is important. They also should have - or should do cytogenetic studies to see if there are any gene mutations - some mutations effect treatment options and prognoses. I am somewhat concerned that it took so long to get you to a hematologist, and it seems to be taking a while to get a full BMB report and treatment plan. Is there a separate oncologist and hematologist? In my experience the hematologist is also the oncologist. Where are you? You mentioned farm and hockey - does that mean rural Canada? Do you have access to an MDS specialist in a big hospital somewhere? There are many great centers in America but I don't know about other places - but if possible - I'd try and see someone with a lot of experience with MDS - at least for a consult.
Vidaza and a related drug Dacogen can be used to put the disease in remission - maybe reduce blasts, mutations and increase blood counts. Its not a cure. Its sometimes used to get the disease into remission in preparation for a stem cell transplant. Based on what you describe, I'd think your husband would be a good candidate for such a procedure - and again you'd want a consult at a really really good hospital where they do such procedures often. A transplant can be rough but does hold out the prospect of a cure.
I'm 56 and had lower risk MDS for three years - probably several years before that. I recently tried Vidaza but it didn't seem to help much and the disease seems to be getting worse - and the doctors are now recommending a transplant. Nobody is saying I only have four months to live - but rather if all goes well 6 months to be skiing again. If you can find good doctors you trust and develop a good treatment/transplant plan then there is every reason to be optimistic - and staying optimistic is very important! Here is a link to a good presentation that describes the disease and treatment options. https://www.pathlms.com/aamdsif/cour...tions/8075AThe website for the foundation where the presentation is, and the foundation in general may have other helpful links and resources
All the best to you and your husband. Paul

[italianburrito]

I understand completely where you are coming from since I have had to deal with this recently in the past 3 weeks with my dad. I would personally see if he can be seen ASAP at another clinic with another doctor because time is critical. My dad found out about this diagnosis on a thursday and started chemo that monday. Dr. M always said starting early is the best thing to beat this disease. With his age being relatively young, there are many options out there to actually put this disease in remission or even cure. Please have hope! easier said than done but how you feel affects how he feels.

[steve_ky]

Having the right medical team makes all the difference with these disease. First, it's rare and very hard to diagnose. Second, there are many treatment options to manage the symptoms, but only one (risky) option with the potential to cure it - a Stem Cell Transplant (SCT). This website publishes a list of hospitals with MDS expertise: http://www.mds-foundation.org/mds-centers-of-excellence. Please visit an MDS center of excellent to confirm the diagnosis.

[Bossywife]

Hi Paul,

We live kind of rural in Northern BC, but we have a brand new Cancer Clinic here (where my husband works). The Hematologist we first saw in Vancouver in December was Dr. Luke Chen (http://www.vchri.ca/researchers/luke-chen). The doctor who scheduled his Bone Marrow Biopsy was Dr. Rubin (Oncologist/Hematologist) in the Cancer Clinic where we live. He kind of got involved just because of the Bone Marrow Biopsy. He asked my husband if he could treat him and my husband said yes, but we're waiting for Dr. Chen to come back from Vacation (May 19).

The bone marrow biopsies (there are 2) were both dry taps and they were not able to get an accurate blast % because of that. The Final Diagnosis of the second Biopsy says this:

1. Hypercellular marrow with panmyelosis (cellularity 80%)
2. Megakaryocyte atypia.
3. Focally increased blasts (5-10%)
4. Moderate reticulin fibrosis (MF grade 2 out of 3)
5. Overal findings most suggestive of MDS subtype RAEB-1 with myelofibrosis.

Comment: Unfortunately the lack of marrow aspirate for morphologic analysis limits the ability to assess for dysplasia and precise blast percentage, but given the increased marrow fibrosis, additional repeat marrow aspirate attempts are unlikely to be successful.

When Dr Rubin talked to my husband about the results, he told him he had "Early Leukemia" and that there were "cancer cells in his blood". One of the other doctors in the Cancer Clinic told him that she thinks they might just "watch and wait" with him, because he has no symptoms and feels good.

The closest MDS specialist I can find is in Toronto, back east. I am not sure how you go about requesting to see a MDS specialist, but i'll look into it. Dr. Rubin said that he has MDS experience and we even found out there is a MDS support group in town. My husband seems content having Dr Rubin treat him, as they have known each other a while and my husband respects him greatly.

It's hard as a wife, because my husband tends to just let things slide and believe what the doctors say. After the first bone marrow results, the Internal Medicine doctor said to us "oh, well the blood reports look good, nothing to worry about!" and I said "um, did you read the part where it says the test is indicative of MDS?". He said "oh? where? show me.. ". I still have the copy where he underlined it. My fear is that if I wasn't there, he would have gone home and we wouldn't have been referred back to Dr. Chen. It is scary. I work for the Health Authority (regional cancer) here too, and have respect for doctors, but as a patient, I feel like you really need to keep informed and do your own groundwork and research.

I'm trying to stay postive for him. These past few years, we have lived a charmed and blessed life and as a compulsive anxiety freak, in the back of my mind I have been waiting for the hammer to fall. I think that's why I'm so scared. No one deserves to be this happy for too long, right?

[PaulS]

Hi Bossy -

Try not to get too gloomy - I have a bad habit of worrying and focusing on the negative (to the extent my doctor makes fun of me for it) but its really not helpful. You have a lot of reasons to be hopeful and I'm sure you and your husband will be happy for many years to come. Of course you deserve to be happy. Sometimes a life threatening disease helps focus you on how blessed you really are.

You've mentioned low platelets - but also other low blood counts - how low is the hemoglobin and WBC? If he feels good and the counts are low, watch and wait (or watch and worry) may be OK - but I'm concerned about the blasts and the lack of a definitive diagnosis. The doctor in Vancouver didn't seem like he had expertise in blood cancers in general or MDS in particular - unless a I'm missing something. The local hematologist may be a good place to start, especially if you feel comfortable with him and he has access to other specialists if he doesn't have an answer for something. If you can figure it out a consult with an MDS expert could be very helpful.

All that said, I'm not sure how good the BMB results are - finding a good pathologist to interpret the results can be very important - its a difficult skill. I've had dry taps and they seem able to identify dysplasic cells, although less reliable at counting blasts. Also important is doing cytogenetic studies - if they haven't done that you should find out why. Don't know if you looked at the link to the video presentation I sent, but there is a lot of information in it - a good place to start.

Seems to me you need to try and get a more definitive diagnosis - perhaps you can have the BMB samples sent to Toronto or another MDS center of excellence. I Don't know if its possible, but the Hutchison Center in Seattle is as good as it gets, if you can get a consult there. If the pathologist was local you may want to find a way to get another BMB and/or analyses by a pathologist more experienced with MDS.

They used to call MDS smoldering leukemia or pre-leukemia - but that isn't really how its looked at now - its a somewhat rare and very variable disease. It doesn't always lead to leukemia - but its good to treat it if there is a high risk that it will. All the best,
paul

[Bossywife]

Paul,

I did see the presentation, and i'm going to show it to my husband tonight. It is probably the best one i've seen so far, so thank you!

Just heard that the Oncologist wants us to go to Vancouver to see Dr Chen now. So, i'll write all my questions down and off we go. On May 27th. More waiting... ugh.

Laura

[Neil Cuadra]

Laura,

You might take along this checklist too.

[Bossywife]

Thank you Neil!! that's a great checklist!

[PaulS]

Glad you have a plan. Hopefully you'll get some questions answered. Stay positive! Best, Paul

[Bossywife]

Paul,

His last set of bloodwork was:

WBC 3.3
RBC 4.36 (which is the highest it has been in a while... and within normal range)
Hgb 130 g/L
Hct 0.39 L/L
Platelets 54 - the highest platelets he has had in the past 7 years is 73 or 93. I can't remember which.

Like i said, he has no symptoms, so maybe we should watch and wait

We watched the video together last night, he loved it. I think he knows more about his syndrome now. Do you know where the second part to the seminar is? He wanted to watch that too.

Laura

[PaulS]

wow - those numbers look pretty good. Sounds like he's been stable or seven years.

I'm having trouble with my computer/internet and I"m not sure where to find the second part of the presentation - I got the first part at the aplastic anemia/mds international foundation website - if you get there and search for Roboz you should find it.

Good luck!
paul

This link may help.
https://www.pathlms.com/aamdsif

[Hopeful]

Here's the second part:

https://www.pathlms.com/aamdsif/cour...entations/7749

[Cheryl C]

Best wishes as you continue the MDS journey with your husband, Laura. He is very fortunate to have you!

After my blasts dropped I was offered chemo or watch and wait. I was a little bit nervous about watch and wait but now nearly 4 years since diagnosis (and probably about 6 years into the disease) I'm glad I chose that option. Like your husband I feel well most of the time. However I get the impression that you need more information, eg cytogenetic testing, in order to make a really informed decision about what to do. There are people with serious MDS who feel really well.

One important fact to remember about cytotoxic therapy (chemo) is that it can cause MDS, thus defeating its purpose, so its a big decision to make that needs careful consideration. You might want to check out http://www.mds-foundation.org/wp-con...nQuestions.pdf if you haven't already.