New member- very scared!

[jmajjb]

Hello,
I am 49 mother of 2 young boys. I have been working on getting a diagnosis since March. Now it looks like I have Refractory anemia with ringed sideroblasts. Does anyone else on this forum have this diagnosis? Is bone marrow transplant an option?
My numbers have been steady since March.
Rbcs. 2.9
Hgb 10.9
Platelets 90,000
HCT 30.3
WBCs 5.2
I have tried 2 weeks on pyridoxine with no change.
What does this mean for me?
I live in Wisconsin. Have a second opinion at Mayo clinic in Rochester next week. Does anyone know where is the best place to go for this condition?
I am very scared... I don't have many symptoms. My tongue was inflamed and lost the sense of taste but seems to be coming back.
I don't have fatigue or headaches. What should I expect?
Any advice would be so appreciated!

[riccd2001]

If you use the "SEARCH" tab and insert "refractory anemia with ringed sideroblasts" you'll see 17 threads to read and perhaps answer some of your questions. Good luck!

[DanL]

jmajjb,

Very sorry to hear of your diagnosis. A couple of answers to your questions 1) the mayo clinic is a great place to go for a second opinion and complete diagnosis. 2) transplant may be an option and depends on the availability of a donor, your overall health, and the status of your underlying disease.

The hardest thing to do at diagnosis is to breathe, and accept that you are here today and probably in pretty good health and spirits. Bone marrow failure diseases are day at a time adventures, and you have to focus on the moment while planning for the future.

I am 40, it has been about 90 days from my unrelated donor transplant. It is not an easy path, but it is one that I would not hesitate to do again given the current state of medical technology and where the development of drugs has taken us thus far, meaning that my disease had progressed to the point where transplant was rapidly becoming the last best hope.

I wish you great luck when you head over to Mayo and that you receive the advice and information that you are ready for.

Dan

[jmajjb]

Thanks DanL
I am lucky in one way- I have an identical twin sister that is willing to donate if I need a transplant. I had a phone conference with Dr. in Florida today who recommended that both my sister and I collect and freeze stem cells for the future. I have a mild form he says that may not need a transplant but we could be prepared. I look forward to Mayo clinic to see what they say. My hematologist has not been very straight forward with information. He told me not to look anything up as there were some bad forms of sideroblastic anemia and mine wasn't one of them. That is all the information he gave. Today I was to fax my CBC results in and then have a phone conference. Turns out he and his nurse are on vacation until June 5th. His partner agreed to look at the results and call me but I still have not heard from him. Very disappointing.

[Chirley]

Hi, I'm sorry you've had to join this forum.

There are a couple of positives in a bad situation. Firstly RARS is one of the better categories of MDS to have and generally doesn't require transplant unless it progresses. Secondly, RARS can be a pseudo MDS meaning it is sometimes found to be a reversible MDS caused by malabsorption and nutritional problems. If the pyridoxine didn't work, I would suggest you have a copper AND caeruloplasmin level done. I was originally diagnosed with RA which rapidly progressed to RARS and then RAEB 1... I had 6 months of chemo (Vidaza) before I was found to have copper deficiency. I now have copper infusions and my MDS, while still "officially" still present in my bone marrow is almost completely gone. I'm a little more unusual in that I pass copper out in my urine and most people don't, so that's why I need continuing copper treatment. Most people with copper deficiency return completely to normal as soon as the copper level is normalised and they take oral supplements.

As I said, this CAN be a cause but you have to go to a reputable clinic and get a good second opinion. The blood test results would be very good to have with you when you go to the Mayo.

Best of luck.

[sstewart09]

I'm not sure how far you are from Chicago, but there are a few reputable transplant centers in this area. My husband had his transplant at Loyola, but there's also Northwestern, University of Chicago and Rush.

[jmajjb]

Thank you for the information!
Chirley I have asked 2 doctors for the ceruloplasmin level to be tested and both said not necessary. I have recently gone to naturopath Dr. who sent blood to Spectracell labs for nutritional workup. This measures levels of vitamins, trace minerals etc. in the lymphocytes, which supposedly gives a 3 month history of nutrition. Have you heard of this? Do you have any information on the ceruloplasmin that I could share with the Dr? I am sorry they misdiagnosed you- but so glad they finally caught it!

[Chirley]

All I can tell you is my experience. Caeruloplasmin is to copper what ferritin is to iron. You can have a normal or even high copper level but if the caeruloplasmin is low there is no way to transport the copper to the cells. Without copper, iron can't be utilised properly and tends to build up in the bone marrow causing iron deposits and ringed sideroblasts. That's why it's important to check both the copper level and the caeruloplasmin level.

I don't know about that blood test you were mentioning. We don't really get much choice with labs and tests here. The Government is pretty strict when it comes to regulating laboratories and the kinds of tests that can be performed.

With my misdiagnosis...I failed Vidaza. My counts were bad...blood transfusions every week or two, neuts either extremely low or zero and blast count increasing. I was in the process of being worked up for bone marrow transplant. I developed numbness of my legs, unsteady gait etc and after about 6 months was finally diagnosed with the copper deficiency ONLY because copper levels were tested for the neurological signs. I am permanently disabled (and deteriorating) because the neurologist decided to procrastinate and do a "watch and wait" on me as I got progressively worse. I also had a low B12 level and the combination of B12 deficiency with copper deficiency makes the Neuro problem exponentially worse and less likely to respond to treatment and more likely to keep progressing despite treatment.

What I'm trying to say is...be your own health advocate...be proactive...don't allow a doctor to downplay your concerns...if you aren't happy with their response, tell them....don't worry about annoying them....don't worry if your questions seem silly, a question is NEVER silly....don't have blind faith, if you want a second, third, fourth opinion...do it! You are more important than what your doctor thinks of you.

[jmajjb]

Thank you Chirley!
I will pursue my ceruloplasmin level!

[Caregive]

Take a little notebook in to the doctor's office and have your questions right there to ask. Make them let you have time to write in your answers. Read nonstop about your issues. I make sure all my husband's doctors have the info from one another. One doctor has poopooed my questions but I keep at it. Husband was tested for years till a diagnosis. I got copies of all blood work and doctor's notes in some cases so I have that info, diag and treatment in case we are out of town and need to see a doctor who is not familiar with my husband.

Let us know how you are doing and managing with resistent doctors. We all care.

[triumphe64]

A spreadsheet of meds and counts and dates will be very helpful, especially if you change doctors along the way.

[jmajjb]

I am happy with the Mayo Dr. He was very thorough and reassuring. My question now is this: he says I have mild anemia and will probably stay like this for decades. Does anyone else with mild anemia seem light headed or dizzy occasionally? Do you think this is normal?