About 4 months out from my mom's aplastic anemia diagnosis...

[Marlene]

That doesn't sound right. Ask her doctor to set up a referral for you. Otherwise, look into Johns Hopkin, Dr. Brodsky or Cleveland Clinic, Dr. Majewski (sp?).


Try calling them directly.
https://www.nhlbi.nih.gov/science/he...ontact-the-lab

[Marlene]

https://www.hopkinsmedicine.org/prof...robert-brodsky

https://my.clevelandclinic.org/staff...jewski#reviews

Both are very experienced with SAA and both did a stint at NIH.

[Matthew42]

Thank you, dear Marlene.

My mother is not doing well. I am very upset. Her neutrophils have been staying up between 1100-1200, but her blood and platelets are terrible again. I don't know what's going on. Her current doctor admitted that she doesn't feel comfortable treating her anymore.

All the best to you!

[Marlene]

I am so sorry Matthew. I added Dr Young's contact info to my first post in case you didn't see it. It would probably be faster than asking for a referral.

[Matthew42]

Well, I just contacted Dr. Young's team. They agreed to review her case. The nurse told me that it is no guarantee that his team will her see her, though. If not, there are a few doctors who were trained under Dr. Young who would (Dr. Borsky, etc.).

She went on to say that her neutrophils going up is a good sign (+1000 and staying up), but she couldn't give me anymore information over the phone. She also said that it can take 1-2 years to get off transfusions with horse-atg when you are my mother's age (69). Older people often have very, very slow recoveries on horse-atg. Some older patients can take +15 months to get off blood and platelets transfusions, which we were never told. Dr. Young has to look at all trends in blood, bone marrow biopsies and reticulocyte counts to know what is really going on. He can tell, she said, if he thinks things are going to work within the next 6 months or so. So, the nurse basically said it could still end up being a longer waiting game (several more months of waiting) until we really know what is going on.

After a few minutes of talking about her condition, she said that Dr. Young may not take her as a full-time patient if he believes that her current treatment will end up working. He may just give her current hematologist guidelines on new medicines or dose adjustments of current medicines. However, if he believes that her current treatment may not end up working, he will probably take her on as a full-time patient.

I have to have records sent to him in the next few days.

By the way, she made a big deal about my mother's reticulocyte count, which has only been checked one time by mother's hematologist (one time a few months ago). When I go with my mother, she never talks about this. It was within normal range (low end) a few months ago. She said if her count is within normal range, that is a good sign (like the neutrophils) that atg will eventually heal the marrow, but that is all she could tell me. She can't give much info over the phone.

My mother gets some rises in blood and then very steep falls (between 6-7 in hemoglobin). She goes up to 9 or so on her own (one time 10) and then falls down into transfusion territory. As far as her platelets are concerned, she has had no improvement (always under 20).

I wish you all the best

[mola-tecta]

Matthew42,

I am glad you were able to get ahold of Dr. Young's team and got some things sorted out. This team will be the best for your mother to figure out the next steps going forward. It's great they already gave you some information and also agreed to review her case and all the records. It sounds like he will be able to take in all the relevant information and compare it to a lot of statistical data on AA recovery.

I'm hoping for the best for you and your mother. Maybe with the addition of advice from Dr. Young's team your mother's hematologist will be more comfortable continuing treatment as needed, especially if the plan will still be watching and waiting. I'm sorry you have to go through this, especially with feeling left out in the cold by her hematologist to find someone else.


Curious to know if Dr. Young's team only does this on referral or if they would be willing to review any patient with a relevant condition and history with bone marrow failure. Of course, I mean my mother It would be really helpful to have another expert look over the information. Apparently my mother's hematologist did his fellowship at the NIH so I can't imagine he isn't familiar with Dr. Young.


I don't really have much of an update for my mother right now - doctor is trying to schedule a bone marrow biopsy for some time late in February. My mother is not terribly thrilled about it as it causes her a lot of anxiety. I think it is due to trauma from having seen my father have one without sufficient pre-medication. She requests to have the CT-guided BMB. The hope is to see if the marrow is recovering properly. The first time she had 20% cellularity. Of course I learned that cellularity doesn't always mean results in the peripheral blood.

Neutrophils are still staying between 1.7 and 2.5 for the past few weeks, which seems good. Platelets have still not seemed to dip below 20 between transfusions (although she is still getting them), but in months prior they could dip to under 10 between transfusions very often. Still needing RBC about once a month.

Still worried about the creatinine and eGFR as well as bilirubin rising again. The hematologist knocked down her cyclosporine to 75mg x 2 a day now. For some reason her trough levels had started getting higher again. I am wondering if it's because of the brand of cyclosporine being changed. She is prescribed cyclosporine modified and usually gets whatever generic is available at the pharmacy, but in the past month has been receiving brand-name Gengraf. Not sure if it makes any difference. Hopefully knocking it down again will help with some of the side effects.

Enough rambling, I'm still losing my mind.

Wishing you all the best right now and hopefully not terrible weather this coming week!

[Marlene]

Glad you were able to connect with them and that they will be able to help. Recovery from aplastic anemia can be all consuming for both the patient and caregivers. Be sure to take care of yourself too and find some joy in every day.

[Matthew42]

I appreciate the kindness from you both. It's been a real heartbreaking experience for my family, as you both know. I know your pain, mola-tecta. And dear Marlene, you lived this many years ago with your husband. You know all about it. Bless you both.

To see Dr. Young's team, you make a call and explain the situation. You must have severe or very severe aplastic anemia. If you have moderate aplastic anemia, you can't be seen (was told that on the phone). If they agree to review your case, you must have your current hematologist send all aplastic anemia records (you have to fax them the info). That's all you have to do. If, then, Dr. Young's team thinks your current treatment will likely end up working, he may just consult with you online or with your current hematologist to make sure your dosage and medications are correct, or give recommendations based on your bone marrow biopsy. On the other hand, if he thinks your current treatment was not ideal, or that you might not get off transfusions with the current treatment, he will likely take you on as a full-time patient. That's what I was told on the phone. I was told he has a lot of tricks in the trade.

In addition, they told me that the neutrophils staying up for the past few months is a really good sign, but that's all. The sudden drops in blood and platelets could just be a sign of recovery, or just nothing at all. I am not to worry about it. It could be her body is "transitioning" (but not said with assurance). I was told very clearly that the "neutrophil line" is just as important as the blood and platelet lines. It signifies recovery as much as the others do.

@mola-tecta: your mother's neutrophil count is fantastic!! By the way, what is your mother's bilirubin and creatinine? My mother's hematologist told us not to worry about the eFGR. It's the creatinine that is most important. As long as it's under 2, it's nothing to worry about. It's the medicine that's elevating it. There is also the possibility of false readings, too, she said, which are very common with bilirubin tests. Finally, as long as the bilirubin is under 3.5, we were told not to worry. It's the cyclosporine and Promacta making it go up. If bilirubin starts going to 4 or more, then there might be a problem. Just telling you what we were told.

My mother's platelets are real low again (7), but I am not going to worry - I can't, as it won't change anything. Some man with ITP (autoimmune low platelet disease) has lived with a platelet count of 4 for over 25 years! No medicines help him. He refuses to live in fear, and he is just fine. We must stop living in fear.

All the best to you both.

[mola-tecta]

It is a very heartbreaking experience to go through. Especially when aplastic anemia comes out of nowhere, has no discover-able "cause" and is so rare most people have never heard of it nor do they have any actual frame of reference for what it means. Even if they don't know the ins and outs, most people have a general understanding of "leukemia" and what it entails. Vast majority of people have no understanding of aplastic anemia - even a lot of doctors! I was explaining to my PCP yesterday what my mom's treatment and needs entail. (Not that I expect her to know, it's not her specialty - but it's rare enough that many doctors have probably only encountered it in passing when studying)

Thank you for the information about Dr. Young's team. I'm going to be keeping that in my back pocket as we go forward. While it's nice to see my mom's ANC be in a good range and be told it's a really good sign, my mom's hematologist is definitely not a "small victories" type. All or nothing. He seems to be ready to say it's been a failure overall. Having another opinion from an expert would be very valuable depending on how things go.

As of the last bloodwork done on Monday, my mother's creatinine is 1.8, eGFR 30, bilirubin 2.1. Maybe these aren't terrible? I know right after the ATG treatment the liver and kidney numbers were a mess, as we were advised they would be, but after a little while they were actually normal, and had been normal levels right up until the introduction of Exjade. For example, right before it was introduced, her creatinine was 1.0, eGFR 60. I appreciate you telling me what you had been advised from your doctor as my mother's team doesn't really bring this stuff up. Currently they are just giving occasional IV saline to bring the creatinine down.

I very much understand the constant worry and stress it brings. You just never know what is going to come up with every blood test. I do remember a doctor in the hospital saying that there are people with ITP or other disorders that have sub-10 platelets and just live a normal life that way.

Letting go of the fear is hard. It was hard enough when my father had leukemia and passed away. Then we got blindsided by this. It sucks. (yes, I have a therapist) Having other people to compare stories with helps a lot.

Take care of yourself, remember to eat delicious things and live a day at a time.

[Matthew42]

Dear mola-tecta,

I am sorry that you've dealt with blood diseases with both of your parents. It is difficult to let go of the fear, considering your dear father had leukemia. I am so very sorry for your terrible loss. I really don't know what to say.

Different hematologists say different things. My mother's is not that great, but she does give some okay info at times, especially on things unrelated to aplastic anemia lol. During our last visit, though, I left her office, thinking that she knows knows little about her disease. It really hit me hard after she admitted that she is no longer comfortable treating her. She said that disease is very complicated and is "immune-mediated", putting it in a special category.

I do believe that your mother is on her way to a full recovery from the disease somehow. It still may be a while before it all goes away. My mother still gets blood a few times a month (2 to 4). Your mother is only getting blood 1 time a month, which is absolutely fabulous. Every aplastic anemic's recovery looks different. My mother's blood goes way up and way down, and is all over the place. Her platelets are now having trouble holding at 10.

I am here for you. We'll get through it somehow.

My mother gets blood drawn tomorrow and I literally get sick to my stomach when I read the results.

Best wishes to your dear mother.

[Marlene]

Mola-teca,

Just wanted share some experiences in the off-chance it could be helpful.

John eventually had issues with Exjade and had to stop. When he started, it was at a reduced dose of 500MG for the first 3 months, then up to 750 mg. During this time, he would have to take a break from it about every 3-4 weeks because it caused nausea. A year later, he upped his dose 1000mg and within one week, his creatinine increased to 1.5. He stopped it and took about one month for his creatinine to return to normal. He then started up again at a 750mg but his creatinine started to climb again. So he stopped it completely.

For many, stopping it until things return to normal, and then restarting it can resolve the issue. For your mom, it may be the cyclo causing the rise. There would be little risk in stopping the Exjade to see which med is the culprit. Unfortunately, you have the added complication of dealing with a doctor that is not very open to discussion. We were already 4 years out of treatment by then and had much more experience dealing with all the things this disease throws at you. Exjade was new and one of those medicines that we felt comfortable playing with since it wouldn't alter the course of the disease, like causing a relapse if stopped.

When it came to explaining or discussing Aplastic Anemia, we ran into the same problem of the lack of understanding of the disease. So we started to use more charged language to get to the point quicker. Like...catastrophic bone marrow failure called Aplastic Anemia. When you lead with Aplastic Anemia, many think you just need more iron. A common misconception. We were amazed at how many in the medical field did not take or understand the precautions necessary when dealing with someone with this disease.

For me, the stress and worry didn't get better. I'm very good at both unfortunately. But my handling of it did. Over time, my confidence grew by the experience itself, understanding that the body has a driving desire to heal and seeing how well John could recover from setbacks and other issues. It's still scary as ****.

[Matthew42]

We actually had medical professionals tell my mother to take iron supplements???

The lack of knowledge on the disease can have fatal consequences.

My mother's current hematologist is only positive on one thing: she said that most people with severe aplastic anemia do not have a major relapse, once they get over the "big obstacle" the first time (sometimes a 2-year process). Getting over it the first time is the real issue. Sure, she said there are cytometry changes that *can* happen where you get concomitant MDS/aplastic anemia hybrid (usually refractory MDS), but it doesn't really change much, if the person never becomes transfusion-dependent. It's really a disease like no other.

I think I am more worried about the disease more than my mother. My mother just goes with the flow.

Her neutrophils have stayed over a 1000 for 2-3 months, so that's a good thing. My mother's doctor said getting infections from aplastic anemia is one of the most dangerous things about the disease. I just want her off blood transfusions for good. That's what really bothers me now.

[Matthew42]

Dear Marlene,

If you don't mind me asking, how many red blood cell transfusions did your husband have before he got better? My mother has already had 58 or so.

[Marlene]

Hi Matthew,

I think you are right...caregivers can and do worry more than the patient. I know John could turn over a lot of that worry to me since I was looking out for him. I'm glad I could help relieve some of that burden so he could spend what little energy he had on healing. Also, he was too exhausted from the ordeal. The first year was the hardest. The second year became more routine but still consumed our lives.

I don't have an exact count of red cell transfusion but I know it exceeded 175 units over two years. I did not keep track of them when he was in the hospital. There were days he was getting them daily along with platelets. In the beginning, I did not realize the importance of tracking things so there's a gap. He was not making any and also had hemorrhagic cystitis from the cytoxan that took six months to resolve.

John's red cell threshold was 8.3 and when he needed red cells, they always gave him 2 units.

That's a lot of iron to deal with and it took years to get it off. Mostly because he couldn't take an aggressive approach. The drugs were too hard on him and phlebotomies were taxing on his bone marrow so he had to go slower than anyone would have liked. But he got there!!! It will be 20 years this April since he was diagnosed. I am so grateful to all that have helped us through this journey. Remembering the kindness of others can be emotionally overwhelming to this day.

[Matthew42]

Your story, Marlene, is so inspiring. It touches my heart and makes me cry. He persevered and went through so, so much. Bless his heart!

My mother is soon to reach 60 RBC transfusions (in 11 months), which is nothing compared to the amount many have had on here. Her levels were going up, but now they are dropping again. It's such a yo-yo thing now. Before, it was just always super low. She gets teased with rises in blood and then sudden, steep drops. Her neutrophils dropped down to 800 today, but they are still averaging over 1000.

I don't know how many platelet transfusions my mother has had. Her platelets have never improved. That's one line that gets an "F" (lol).

Thank you so much for all of your comments and help. It means so much to me, as you and your husband intimately know the hardships caused by this disease.

[Hopeful]

Hi Matthew,

I am glad that you got an appointment with Dr Young. Your mother's case seems unique in that she has dramatic rises and falls. It will be interesting to hear what he recommends.

Dr Young is paid by our taxes I think the only way you can be a "regular" patient is if you become part of a clinical trial. However, if your mother is on the path to wellness, he will be an amazing guide for both you and your mother's hematologist.

Good luck!

[Matthew42]

Originally Posted by Hopeful

Hi Matthew,

I am glad that you got an appointment with Dr Young. Your mother's case seems unique in that she has dramatic rises and falls. It will be interesting to hear what he recommends.

Dr Young is paid by our taxes I think the only way you can be a "regular" patient is if you become part of a clinical trial. However, if your mother is on the path to wellness, he will be an amazing guide for both you and your mother's hematologist.

Good luck!

Hello Hopeful,


You are right: Dr. Young's nurse at NIH said that he would help my mother, but his team would not take her on as a full patient unless he thinks she likely would be helped by some treatment he could give her in a clinical trial. Either way, he would get involved.

Her neutrophils are still averaging around 1100 for the past 3 months, going up as high as 1500 and sometimes down to 800. They said that is a really good thing. As to why she has such big rises and drops in blood, it is a mystery. It might not be explainable, she said, as this can happen with aplastic anemics while they are on the way to recovery. Dr. Young should weigh in on all of this. The fact that she does get rises is a good thing, but the sudden big drops is bizarre. Her platelets have never improved. We thought her platelets would hold at 10 a few weeks ago, and then her platelets ended up at 7 no long after we said that. LOL

Anyways, it may be a month or so until I hear back from the NIH (until all records are sent, etc.).

If Dr. Young's team can't take her on as a full patient, we still may end up switching to another hematologist like Dr. Brodsky at John Hopkins. Her current hematologist is no expert in the disease, which she now clearly admits.

Please take care.

[Matthew42]

My dad and I are pretty sure that pentamidine is behind the low counts these past two weeks (blood, platelets and neutrophils). My mother is not getting this again. We remember that real low counts came 3 months ago when she got it.

I have no idea why my mother is still getting it, when her neutrophils have been averaging over 1000. When I said this to her doctor, she said, "The ATG is still in her body for a long time, that's why." ATG, I know, can continue to be effective years later after it's given, but I still don't know what ATG has to do with getting Pentamidine. I just let it go. Talking to these doctors at times is mission impossible.

We're still waiting to hear back from Dr. Young's office.

All the best to you all

[Sally C]

Dear Matthew,
I have been following your journey with your Mother. Your knowledge of all is this so impressive but your love and loyalty to your Mother is even more so.
Like Marlene, I thought I would share my husband's story - I pray that it will give you, Mola-Tecta and anyone else in this situation more hope. I will try to condense as much as possible.
Our first hematology visit was 12/1/08. In 6 months my husband's CBC went from normal to concerning. While still trying to get a firm diagnosis he had to start transfusions in Jan., 2009 - he ended up needing over 125 blood/platelet transfusions. After all attempts at getting a firm diagnosis in our local area (some thought MDS, some thought AA), he was accepted for a clinical trial at The NIH. Dr. Neal Young is considered to be the top hematologists in the world. In a week they diagnosed Don with MDS and he started a clinical trial to knock out his immune system, which it did, as they thought it was autoimmune related. He received Campath and a month out, his neutrophils hit 0.0. At that point he was on our hematologist's death list. His platelets hit a low of 4,000. In the spring of 2011, NIH started a new clinical trial with Promacta - Don was the first MDS patient to receive it. Once his platelets hit 100,000 they stopped the med in the summer of 2012. At age 76 he remains transfusion free - recent check his platelets were 83,000. Platelets were the last to rise with Don but they eventually caught up. Right now his whites are normal and reds barely below normal. As an aside, it took his marrow 1 1/2 years to present with MDS - he also had a very strange case of a very strange disease.
I think it's wonderful that Dr. Young is willing to confer with your Mother's doctors. As I said, he is the best and we have no doubt that Don would not still be with us if it weren't for their guidance.
I wish you and your Mother all the best.
God Bless all in this situation. Keep the Faith!!
Sally

[mola-tecta]

Thank you again for those who have answered and shared their information in this thread. This forum is so quiet I wasn't sure if I would get any response at all. Glad to see this is not the case, and there are still some folks hanging around.

I didn't mean to try and farm pity with my dad's story, but I appreciate the stories and responses quite a bit. It also gives context as to why I'm so crazy when it comes to my mother's issue I wasn't really experienced or aware enough to understand why my father was going through what he did - so now I am all the more determined to have a better understanding. I also firmly believe my mother's advocacy for my father helped him survive far longer than he would have otherwise, so I want to at least try and offer that to my mother as well.

My mother is also going to the same hematology center my dad went to... although she is seeing a different provider there, and they have completely remodeled the clinic so it's much nicer. She did have to see the same hematologist my father did while she was inpatient, though. That was... weird. But he didn't seem to remember her or the name at all.

Trying to have some hope still, but in a measured way. As of 2/7 my mother's neutrophils were 2.5. Hemoglobin seems to be staying steadier than I expected. She last got blood on 1/11. In the past month the hemoglobin has only gone from 9.4 to 8.3, with a few tiny rises/fluctuations that probably don't mean much, but feels significant since it happens so rarely. Hoping to see platelet base level rise a little bit more to see if they will hold above 20 without transfusions.

It's nice to see that things are staying somewhat the same even though the hematologist dropped the cyclosporine to 75mg x 2. I believe my mother has stopped the Exjade for now. I didn't realize her hematologist had bullied her into trying the Aranesp again, hoping it would work. It feels like he wants everything to happen so fast and keeps throwing more and more medications in the ring but it's hard to see if that approach has better merit due to the amount of significant side effects it creates.

Matthew42, I am still very glad you were able to be in touch with Dr. Young's team. He is the #1 name I see listed for AA expertise and it's great that they can still offer support even if they are not able to take your mother as a full patient. The *one* good thing I've seen about this disease is that even if it is stubborn, they have Plan Bs, Plan Cs, Plan Ds, etc. I am surprised my mother is still getting pentamidine too. The best I can find to understand it is that ATG affects T cells, and T cells are a complicated part of the whole multi-tiered immune system. So even though the neutrophil levels can be good, the lack of T cells still leaves the body open to certain types of infections, including a type of pneumonia caused by a very common fungus.

Marlene, how is John faring now? Your forum signature is from 2017, just curious how he is holding up after 5 years from then

Sally C, thank you for your story. It's amazing to read back and see how much Promacta has changed the prognosis for people with AA and other blood diseases. It's thanks to folks like Don that we learned this information.

On a brighter note, I was able to donate platelets again Always impressed they get 3 bags of them out of me. Each bag is a single dose that could go to someone. It feels really good to be able to give something back.

Wishing the best for you all. Take care.

[Matthew42]

Originally Posted by Sally C

Dear Matthew,
I have been following your journey with your Mother. Your knowledge of all is this so impressive but your love and loyalty to your Mother is even more so.
Like Marlene, I thought I would share my husband's story - I pray that it will give you, Mola-Tecta and anyone else in this situation more hope. I will try to condense as much as possible.
Our first hematology visit was 12/1/08. In 6 months my husband's CBC went from normal to concerning. While still trying to get a firm diagnosis he had to start transfusions in Jan., 2009 - he ended up needing over 125 blood/platelet transfusions. After all attempts at getting a firm diagnosis in our local area (some thought MDS, some thought AA), he was accepted for a clinical trial at The NIH. Dr. Neal Young is considered to be the top hematologists in the world. In a week they diagnosed Don with MDS and he started a clinical trial to knock out his immune system, which it did, as they thought it was autoimmune related. He received Campath and a month out, his neutrophils hit 0.0. At that point he was on our hematologist's death list. His platelets hit a low of 4,000. In the spring of 2011, NIH started a new clinical trial with Promacta - Don was the first MDS patient to receive it. Once his platelets hit 100,000 they stopped the med in the summer of 2012. At age 76 he remains transfusion free - recent check his platelets were 83,000. Platelets were the last to rise with Don but they eventually caught up. Right now his whites are normal and reds barely below normal. As an aside, it took his marrow 1 1/2 years to present with MDS - he also had a very strange case of a very strange disease.
I think it's wonderful that Dr. Young is willing to confer with your Mother's doctors. As I said, he is the best and we have no doubt that Don would not still be with us if it weren't for their guidance.
I wish you and your Mother all the best.
God Bless all in this situation. Keep the Faith!!
Sally

Dear Sally,


You don't know how much I appreciate your kindest of words, and for sharing information about your husband's amazing recovery.

My mother still has classic aplastic anemia. She had a few abnormally shaped red blood cells in her last bone marrow biopsy, but the doctor said they can be normal in small numbers, even in people with normal marrow. They can be caused by a number of different things (high iron in blood, medication {Pomacta}, classic aplastic anemia, etc.). She said my mother has a small PNH clone with "empty" marrow once again in her bone marrow biopsy, which are the classic hallmarks of aplastic anemia.

What subset of MDS does your husband have, by the way, if you don't mind me asking?

Wishing your husband the very best of health.

Please take care.

[Sally C]

Matthew,
They called it MDS with Deletion 5 early on. I know at some point he had Trisomy 8 and something with his 20th chromosome but they would change along the way. He probably had 10 - 12 bone marrow biopsies and they varied but initially they said Deletion 5.
Please feel free to ask any further questions.
Keep the Faith!
God Bless,
Sally

I just found this in my files. It really gets in the weeds but it is someone's explanation of the designations with the chromosomes based on her personal experience. You may find it interesting to add to your storehouse of knowledge.

Cytogenetics from my personal experience:
I was extremely confused when I received my first cytogenetic report. I understood that I had "complex cytogenetics" meaning multiple chromosome abnormalities and that this was very bad news. After a lot of reading, this is my basic understanding of the notations in the report. Notations vary slightly from lab to lab. Anyone, please correct me if I'm wrong about any of this info. I have no medical expertise and don't want to give out misinformation.

Cytogenetics, for our purposes, is the study of chromosomes and their structure. We are not talking about inheritance and genetics. Each of our cells has 23 pairs of chromosomes or a total of 46. The term "karyotype" means the arrangement and structure of the chromosomes. If one has no chromosome abnormalities, it will be designated 46,XX for a female or 46,XY for a male.

The pairs of chromosomes are labeled 1 through 23, and each individual chromosome has two arms, the top or short arm is labeled "p" and and the bottom or long arm is labeled "q". Each arm has numerically labeled regions.

In damaged chromosomes, anomalies or defects are generally classified as deletions, additions, translocations or inversions.

Deletions:If an entire chromosome is missing, it is designated monosomy, such as "monosomy 7" or "-7"; If only part of a chromosome is missing it is designated del( ). For example a deletion of the entire q arm of chromosome 5 might be notated "del(5q)" or "-5q"; if only part of an arm is missing, there will be an additional notation showing which region, for example "del(5q21:33)" or "del(5)(q21)".

Additions: Sometimes there is an extra copy of a chromosome, called trisomy, such as "trisomy 8" or "tri(8)" or "+8". Sometimes instead of a copy, there is an addition of unknown origin, designated "marker" such as "mar(unknown)" or "+mar".

Inversions: Sometimes the arms of a chromosome are partially or completely inverted - all or part of the p arm is swapped with all or part of the q arm on the same chromosome. This is noted something like "inv(4)(p13q22)" to show which regions are swapped.

Translocations: Sometimes part of a chromosome gets swapped with or added to part of a different chromosome. This is noted something like "t(9;22)(q34;q11.2)" meaning part of chromosome 9 (region q34) is swapped with part of chromosome 22 (region q11.2).

Going back to my own report as a full example, here is what it showed:

46,XX,-3,del(5)(q14q33),-6,+8,+mar[14]/46,XX[6]

My sample size was 20 cells. Of these [14] were abnormal with multiple anomalies and [6] had no defects.

46,XX = each cell had 46 chromosomes, all female

-3 = monosomy 3 = one of the chromosomes in pair number 3 was completely missing

del(5)(q14q33) = region 14-33 of the long arm q of one of my chromosomes in pair number 5 was deleted. This is common in MDS. If it had been the only anomaly, my prognosis would have been good but combined with my other anomalies, it wasn't.

-6 = monosomy 6 = one of the chromosomes in pair number 6 was completely missing

+8 = trisomy 8 = I had an extra copy of one of the chromosomes in pair number 8. This may be associated with AML.

+mar = I had some extra chromosome material of unknown type and origin. Sometimes the material can be identified and offers clues to prognosis or origin. Mine did not.

After 3 cycles of Vidaza, I had the same abnormalities but only in 1 of the 20 cells sampled in my biopsy, so the report looked like this:
46,XX,-3,del(5)(q14q33),-6,+8,+mar[1]/46,XX[19]

I'm happy to say that I've had 4 bone marrow biopsies since November 2010, all with cytogenetics reported as 46,XX[20], i.e. no abnormalities.

[Matthew42]

Thank you so much Sally C!

Very interesting, all of that. I appreciate it so much. It's education for me, too.

We were told that things can "come and go" in bone marrow biopsies. An abnormality can just vanish in the next biopsy. This is the bizarre nature of aplastic anemia, PNH and MDS. They are all very unpredictable in this regard.

My mother's current hematologist told us that some people with bone marrow failure have "unknown" diagnoses. It's not technically MDS, aplastic anemia or any other bone marrow disease.

My mother currently has classic aplastic anemia, but who knows, really? She's almost 10 months out from horse-atg with only real lasting improvement in her neutrophil line. She has natural rises in blood from time to time, but she always drops back down into transfusion territory. And, as I often repeat, her platelets have always been under 20 a few days after a transfusion. Now, they're back in the single digits a few days after a transfusion. Not sure what is going on. We think it's the pentamidine drip she had two weeks ago. Who knows???

Give your husband my best wishes.

[mola-tecta]

I guess my last post wasn't noticed at all. That's okay, I just wanted to say that as of today, my mother's hemoglobin has somehow stayed stable at 8.3 for two weeks now. I feel a little bit more hopeful.

[Marlene]

Hi Mola-tecta,

You're correct...I completely missed your post. That happens on some of these longer, more active threads.

Glad your mom is holding at 8.3. And stopping the Exjade for a while is probably a good thing. If her EPO levels are low, I can understand him wanting to try Aranesp but if it's high (like over 200), I'm not sure it's worth it.

This year will be John's 20th year. He remains in a partial but stable remission. Red cells and platelets remain below normal but very livable. He sees his local hematologist annually. They still check for PHN which always comes back negative. The stress of blood draws will always be there....a bit of PTSD i'm sure.

Hang in there....M