Trying to get a diagnosis

[Jeevie]

I've been reading posts here for a while and this is my first post. I've been sick for 3 years and can't seem to get any answers. It started with me needing a blood transfusion because my RBC and hemoglobin were very low. Since then, my doctor keeps sending me for iron infusions which have not been working. Even when my ferritin is at 100, my hemoglobin is still low and the same level as when my ferritin is 15. He wouldn't listen to me, so I wound up getting a second opinion. My new doctor thinks it is a blood disorder. Specialists have ruled out autoimmune disease, thalasemia, and low iron. Have had endoscopy and colonoscopy which came back clear. I am waiting to see a hematologist. I'm worried this might be MDS. Unfortunately, I'm in Canada and wait times for specialists are so long. I'm thinking of maybe seeing a doctor in the USA and asking for a bone marrow biopsy.

What symptoms and blood test results did people have before they were diagnosed?

[bailie]

Jeevie, first I wish you the best and hope that this is not serious for you. I was diagnosed with MDS when my blood test (CBC) showed my platelets at 48, WBC at 5.2, RBC at 3.75 and HGB at 12.6. The doctors immediately had me have two bone marrow biopsies within two weeks. This confirmed RAEB-2. At the time I was feeling perfectly normal.

Definitely you should see a hematologist as soon as possible. I went from seemingly no problems to MDS within about three months. My numbers were going down very quickly.

p.s. I have had 14 bone marrow biopsies with no problems and very little pain.

Good luck !!!

[triumphe64]

Only red cells?

[Data]

Jeevie,
First of all I don't consider myself an expert but I can tell you what my symptoms were that led to a diagnosis of MDS. My RBC, WBC, Platelets, Hemoglobin, and Neutrophils were all decreasing to the point I was concerned and started graphing them. My primary care manager (PCM) had been running multiple tests to determine why when she was transferred to another clinic. The ball kind of got dropped until I was scheduled to have lithotripsy for a kidney stone. The urologist called me and said my platelets had dropped to 29 and that I should go see my PCM. The PCM was at a lost for what was causing the drop in all the CBC values so I was referred to a local hematologist. She ran most of the tests again and finally came to the conclusion that "it looks like you might have aplastic anemia but you should get a second opinion". Those were her words. I did go for a second opinion at the VA Hospital and now have a diagnosis of MDS and am getting excellent care. My doctor works at the VA Hospital in Gainesville and is a professor at one of the Center's of Excellence in the US - the University of Florida at Gainesville. The bone marrow biopsy done at the VA Hospital was the telling factor in the diagnosis.

I can tell you how to do it but I would suggest if at all possible get a bone marrow biopsy at an institution that is familiar with blood disorders and in particular MDS.

Good luck!!!!

Data

[Jeevie]

Thank you for all of the information

My problem is only with my red blood cells. They are misshaped, and have low hemoglobin. I'm glad I've finally found a doctor willing to look through my test results instead of just dismissing it as iron deficiency. But the wait to see a specialist isn't helping my nerves. I had to have a blood transfusion 3 months ago, but now my numbers are starting to drop again. Retics are always normal but high ESR and CRP. I always feel fluish and like I have a fever. No matter how much rest I get or how well I eat.

[Marlene]

Since your iron was low, what were/are you B12 (along with homocystien and MMA), Folate, B6, copper and zinc levels? Those should have been checked also.

You say you've been sick for 3 years. Is that in addition to the low red cells?

[Jeevie]

B12, Folate, B6, copper and zinc levels were all normal when last checked. My hemoglobin hasn't responded to iron infusions. My CBC results are the same whether my ferritin is 100 or 15.

The not feeling well started the same time as the problem with my red blood cells. Its starting to feel worse lately. I constantly feel like I have a sore throat, coming down with the flu and episodes of feeling feverish. But I don't actually get a full blown cold.

[Cheryl C]

It must be frustrating not knowing what is causing your symptoms Jeevie. I recommend you request a bone marrow biopsy and get your serum globulins tested as well (if you haven't already). It takes a few weeks for results to come back from a biopsy, so the sooner the better.

[triumphe64]

Any mention of PNH?

[Jeevie]

The hematologist had a cancellation so I get to see him September 28th. I am making a log of all of my symptoms and have all of my blood test results going back to when I first got sick. Hoping to get some answers.

[Jeevie]

Bone marrow biopsy scheduled for next week. I am nervous.

[Cheryl C]

Great you had an appointment yesterday. Please try not to be nervous about the BMB Jeevie. Yes, it can hurt a bit, but not for long. I guess your doctor will have advised you on pain medication to take prior. Just remember this is the only way to see what's going on in your marrow and knowledge is power!

[HughHC]

I have had a history of abnormal counts in HG, WBC and platelets for approximately 13 years. I began to see a hematologist about nine years ago. She suspected AA but had me visit every six months. There was fluctuation in my numbers but not significant. Eventually I convinced her that my numbers had been normal previously. She then ordered a BMB which showed no definitive diagnosis but I was told that there was evidence that MDS was a possibility and that it was necessary to monitor it.

I have moved to another section of the country and established myself with an excellent Cancer hospital They did see some change in my CBC numbers and scheduled another BMB. This time there was a definite diagnosis of MDS but I was listed as a very low risk.

The BMBs are not painful and I have had mine under local anesthesia. If your numbers have not dropped significantly please be patient, It may not be MDS but rather a treatable disease by a qualified team, Best of luck

[traceyn11]

Good luck on the BMB Jeevie! If your dr. does not do it under gen. anesthesia, you could ask for them to give you something that you could take before to make you more relaxed. I have had 3 BMB. The first one hurt a lot, but I don't think the dr. used enough local anesthesia or didn't wait long enough for it to take effect. The 2nd and 3rd ones weren't bad at all, but I was prescribed an Ativan which I took about 30 min. before my appt. It helped take the edge off. The drs. that did those also used more local anesthesia.

[bailie]

I guess I have been lucky. I have had 14 BMBs with very little pain on any of them. I had a local and then IV of Fentanyl.