Newly diagnosed (I think?)

[shellybean]

Hi all
I have recently been referred to Haematology as I have very low neutrophil count as well as low platelets. I have been put on iron and B12 supplements for the time being.

I had a bone marrow biopsy a month ago and have just had the results back.


When I first went for the result they said that the bone wasn't back, but they had blood test result from that day and also a liquid? (can't remember exactly what he said) result from the biopsy. The doctor said that those weren't showing anything abnormal, but they had to wait for the bone to come back.

When I went back the next time for the main result, they said that my bone marrow is empty, there aren't many cells and there isn't much activity for my age (24). The doctor sent me immediately for chest x-ray and has scheduled a 24 hour ECG, an ultrasound on my tummy (not sure if for a particular area or just general), and further blood tests to screen for certain things such as PNH. He said another biopsy will probably be needed.

When describing my bone marrow the doctor said it is what they call aplastic. I read up on this and aplastic anemia came up. Does this mean that he diagnosed me with aplastic anemia? I will ask him this next time I see him (next month), but I've taken this as a diagnosis but I'm not 100% sure if it is.
I'm assuming that this is what I have and that the tests are to rule out any other conditions.

Has anyone been through the same thing? If so what was the outcome at the end? Is it likely to be anything serious (such as leukemia) if the doctor said the blood test and liquid from the biopsy weren't abnormal?
I want to write down some questions before I go back next month, if anyone has any useful questions I could ask that would be great.

Thanks!

[Neil Cuadra]

shellybean,

Welcome to the forums.

The bone marrow test is actually two procedures: a bone marrow aspiration and a bone marrow biopsy. The former involves removing bone marrow fluid to study the cells inside. The latter involves removing a small piece of bone to study the structure of the bone marrow and the quantity of cells, called "cellularity". Confusingly, people often use the phrase "bone marrow biopsy" to mean both of these procedures, since they are done together.

It's typical that you get blood test results back quickly and bone marrow test results back days later, because the extracted bone marrow and fluid have to be examined by the lab technician, who usually writes up a report for the hematologist. You can ask for a copy of this report, but it's typically hard for a layperson to interpret all the jargon.

"Your bone marrow is empty" means that you have low cellularity, meaning the percentage of your marrow that consists of blood cells. At your age, normal cellularity might be 75%, 80%, or more. Ask the doctor what your cellularity measurement actually was.

Ask for your blood test results too, each time you have a Complete Blood Cell (CBC) test. Those numbers are much easier to interpret, since there are normal ranges for each type of blood cell. You'll be able to see which are low, how close to normal or far from normal they are, and how they change over time.

When you have low cellularity, you are low on the immature (baby) blood cells that mature in the marrow until they become mature blood cells in your circulating blood. When you have low cellularity, the doctor is likely to get fewer cells during a bone marrow test (there's just not as much in there to sample). That may be why they are talking about doing another bone marrow biopsy.

The word for "missing cells" is aplastic (they also say hypoplastic), and one explanation may be the disease called aplastic anemia. It does sound like the doctor described your condition as aplastic anemia but you'll want to ask to make sure. When aplastic anemia is suspected or confirmed, it's a good idea to check for the related condition called PNH, in which red cells are lost.

Many people have been diagnosed with aplastic anemia in their 20s. It can be treated, but it's still a serious illness, so it's important to educate yourself and make sure you have the support you need. In case you do have aplastic anemia, I suggest that you order the free information here. Choose Aplastic Anemia from the drop-down box.

You asked about preparing questions. That's an excellent idea before an appointment. Your goal should be to find out what the hematologist knows from your tests so far, if you have a diagnosis, what needs to happen next, and what choices need to be made. Here is a list of questions you might ask, especially after you have a firm diagnosis. Don't be shy about asking the doctor to explain something in terms you can understand. Reading educational materials and looking at websites will help you learn some of the terms, but a good doctor will meet you more than half-way in providing explanations you'll understand.

Feel free to post questions here too. Most forum members are patients or caregivers without medical training, but we know plenty about our own experiences.

Good luck.

[shellybean]

Hi Neil
Thank you for your reply, it has been helpful and has cleared some things up for me.

[shellybean]

So I had my results from the various tests they did and they are all normal.
Apart from the bone marrow biopsy, obviously. My doctor said that he doesn't know what is going on, but leukaemia has been ruled out so that's good. He said it could be aplastic anaemia but it doesn't all seem to add up. He is referring me to a professor in London, Judith Marsh. They'll do all the tests they need to do in one day so I probably only need to go there once hopefully, as it's a few hours away. Has anyone on here been referred to this specialist? Of has anything like this happened? It seems like I'm a bit of a medical mystery, and while I'm glad they've ruled out cancer, I am a bit perplexed that they don't know what's going on.

[Sally C]

Hi Shellybean,
These blood diseases can be very hard to diagnose. My husband's CBC was normal in March, 2008. We found out at the end of Nov., 2008 that something was wrong - but the bone marrow biopsy was inconclusive. Usually AA comes on fast like his symptoms did - and MDS is usually a slower process - which also led to the confusion. He started needing transfusions in Jan., 2009 (blood/platelets) but was not diagnosed with MDS until April at the National Institutes of Health in Bethesda,Md. It was then a year and a half before his marrow presented itself with definitive MDS. Sometimes MDS, AA, and PNH can overlap which also causes problems with diagnosis.
I wish you well!
Sally

[Hopeful]

Originally Posted by shellybean

So I had my results from the various tests they did and they are all normal.
Apart from the bone marrow biopsy, obviously. My doctor said that he doesn't know what is going on, but leukaemia has been ruled out so that's good. He said it could be aplastic anaemia but it doesn't all seem to add up. He is referring me to a professor in London, Judith Marsh. They'll do all the tests they need to do in one day so I probably only need to go there once hopefully, as it's a few hours away. Has anyone on here been referred to this specialist? Of has anything like this happened? It seems like I'm a bit of a medical mystery, and while I'm glad they've ruled out cancer, I am a bit perplexed that they don't know what's going on.

You are in good hands. Dr Marsh is an expert in AA. One of this forum's big success stories (squirellypoo) was treated by her.

[shellybean]

Thanks for your replies

[Shazza]

Hi Shellybean,

I saw Judith Marsh at Kings College Hospital for hypoplastic bone marrow 3 years ago. I'm sure you'll have Googled her & seen that she's one of the best!

I still attend Kings every 6 months for blood tests & monitoring. I've been neutropenic for around 16 years now but my hypoplastic marrow was only discovered in 2013.

They're not sure if it's a possible evolving AA or MDS. I believe my blood is tested for cytogenetic abnormalities etc. as this would confirm a diagnosis either way. In the meantime I remain pretty healthy with a cellularity of somewhere between 10-15%

Do keep us posted

[Neil Cuadra]

Originally Posted by Shazza

They're not sure if it's a possible evolving AA or MDS. I believe my blood is tested for cytogenetic abnormalities etc. as this would confirm a diagnosis either way. In the meantime I remain pretty healthy with a cellularity of somewhere between 10-15%

Shazza,

It's great to hear that you're pretty healthy despite neutropenia and hypoplastic marrow (meaning marrow that is emptier than normal). It's your bone marrow they'd test for cytogenetic abnormalities, not your blood, and unfortunately it's harder to get a good sample when marrow is hypoplastic.

[Shazza]

Hi Neil,

I'm told that blood testing is constantly evolving & improving - I was checked for the GATA2 gene mutation & telomere length from a blood sample recently.

Bone marrow aspirates & trephine samples are still used though - I think for more detailed analysis & staging of disease.

I've had 2 bone marrow biopsies & both times they weren't able to get any aspirate (the liquid tissue inside the bone). You're right, it was a very uncomfortable procedure due to this.

The team at Kings haven't been able to come up with an explanation or diagnosis for me yet but they appear to be actively searching for answers

[bailie]

Shazza, is the reason they are not finding marrow because of lack of experience or that there isn't any marrow? I have had 19 bone marrow biopsies. On one occasion they didn't hit the right spot and the doctor just moved to a slightly different area and they found marrow easily.

[Shazza]

Hi Bailie,

On both occasions they had a good old poke about! The second biopsy took place at King's a centre of excellence in London & was taken over by 2 other doctors when they couldn't find what they were looking for!

The 'dry tap' I suppose, just backs up the low cellularity findings in the trephine sample.

I've spent a great deal of time over the years, researching my neutrophil levels & bone marrow status. Have driven myself around the bend trying to self diagnose with the help of Dr Google!

I've now put my trust completely in the excellent haematology department at Kings College, London. Don't get me wrong, it's still very frustrating not knowing where I'm headed but I believe they're on the case & everything is being done to find me some answers. Due in part to it being a research facility who take on complex cases from around the UK.

However, I can't resist the occasional look on here to see if there's anyone else like me. There's also the possibility that with this being an international forum, the UK could be beaten to the post in the search for answers

19 BMB's Bailie? What a feat! From your signature I can see that you've been on one hell of a journey. I wish you a happy & healthy new year

[shellybean]

I saw Professor Marsh on Wednesday and she asked lots of questions and did a very thorough head to toe examination of me. After that they took 20 tubes of blood for testing and for research purposes, and then I finally had the biopsy. It was excruciating pain this time, much worse than the first one for some reason. I don't know what was different but by the time they did it I was absolutely exhausted so maybe that didn't help.

I got on a coach at 6am to travel for about 4 hours and there was a long wait at the hospital, so I had been awake for 9 hours by the time it happened and I was running on little sleep. My mom said I should be sedated for the next one, if there is one, as she thought it was too unpleasant to go through awake. But I'm just glad it's all done now and I feel like I'm in safe hands with Professor Marsh. I've got a follow up appointment in April to discuss the results and hopefully they will have a diagnosis for me.

[bailie]

I am really surprised you have to wait until April for the results. I get many of my results the same day as labs and all of the BMB results before 10 days following the BMB. For me it would be really bothersome to wait two months for results.

[Shazza]

Hi Shellybean,

Sorry to hear about your painful BMB.

I was at Kings last Wednesday too.

I have posted about my experience under the Bone Marrow Failure heading of the forums - I think you might find it interesting!

[shellybean]

Originally Posted by bailie

I am really surprised you have to wait until April for the results. I get many of my results the same day as labs and all of the BMB results before 10 days following the BMB. For me it would be really bothersome to wait two months for results.

The types of tests they were doing take a long time so they can't really give me the results that soon. It is frustrating having to wait so long but I guess they can't really rush whatever tests they're doing.

[shellybean]

I had my appointment yesterday and it has been confirmed that I do not have aplastic anemia. They are still unsure but are considering MDS. My bone marrow cells are ragged and they do not develop properly. They also found that the telomeres on my chromosomes are too short for my age, so they are doing further tests to determine if I was born with a faulty gene or not. The types of tests they are using have only been developed within the last 5-10 years so I'm lucky that they're available to me. These genetic tests are going to take a while so my next appointment isn't for 3 months. I may not get a diagnosis so if I don't I will join the 100,000 genomes project. My blood levels are low but not severe enough to require treatment, so that's good news. I'll be monitored every 3 months to see if my blood remain stable or to see if it changes. All in all it was a relief to know I am okay for the time being and won't need any treatment. Again it was frustrating not to get an answer, but this is obviously a bit more complicated than I first thought.

[KatailS]

Originally Posted by shellybean

I had my appointment yesterday and it has been confirmed that I do not have aplastic anemia. They are still unsure but are considering MDS. My bone marrow cells are ragged and they do not develop properly. They also found that the telomeres on my chromosomes are too short for my age, so they are doing further tests to determine if I was born with a faulty gene or not. The types of tests they are using have only been developed within the last 5-10 years so I'm lucky that they're available to me. These genetic tests are going to take a while so my next appointment isn't for 3 months. I may not get a diagnosis so if I don't I will join the 100,000 genomes project. My blood levels are low but not severe enough to require treatment, so that's good news. I'll be monitored every 3 months to see if my blood remain stable or to see if it changes. All in all it was a relief to know I am okay for the time being and won't need any treatment. Again it was frustrating not to get an answer, but this is obviously a bit more complicated than I first thought.

Hi shellybean.... our stories sound so similar.... been riding this bus since November 2014 and in a holding pattern of bloodwork every three months. My cellularity was 20% (I am twice your age so this number should be closer to 47%) at my last BMB and all my levels (WBC, RBC, platelets) are low, but holding (I call them my new normal). My telomeres are normal on one subset, low on two and very low on two.... not enough cells to determine the sixth subset. I have the soft diagnosis of moderate aplastic anemia with a small PNH clone (which I understand often happens). Going back up to Dana Farber in May to discuss the findings of the short telomeres and to discuss more targeted genetic testing. Generally speaking, I am in good health and I was in the best shape of my life when they found my numbers dropping. It has been a mental drain for the past couple years, but this forum has really helped stabilize me, knowing that there are others who are like me and others who are dealing with worse yet are so strong and fighting. I hope you find comfort in the support here.... and please do keep sharing. Don't forget to Live, Laugh and Love every day! Keeping you and everyone here in my positive thoughts and prayers.

[shellybean]

Just an update, the results came back and it says I do not have a faulty gene. My telomere length is <10 percentile but it is not due to any telomere genes having any mutation. They think it is more likely that the telomere length is secondary to increased proliferative pressure that the remaining stem cells are under due to the marrow failure.
I have another appointment mid December so I am going to ask questions then.
Does anyone have any insight into what might happen next?

[shellybean]

Originally Posted by KatailS

Hi shellybean.... our stories sound so similar.... been riding this bus since November 2014 and in a holding pattern of bloodwork every three months. My cellularity was 20% (I am twice your age so this number should be closer to 47%) at my last BMB and all my levels (WBC, RBC, platelets) are low, but holding (I call them my new normal). My telomeres are normal on one subset, low on two and very low on two.... not enough cells to determine the sixth subset. I have the soft diagnosis of moderate aplastic anemia with a small PNH clone (which I understand often happens). Going back up to Dana Farber in May to discuss the findings of the short telomeres and to discuss more targeted genetic testing. Generally speaking, I am in good health and I was in the best shape of my life when they found my numbers dropping. It has been a mental drain for the past couple years, but this forum has really helped stabilize me, knowing that there are others who are like me and others who are dealing with worse yet are so strong and fighting. I hope you find comfort in the support here.... and please do keep sharing. Don't forget to Live, Laugh and Love every day! Keeping you and everyone here in my positive thoughts and prayers.

Extremely late reply, but thank you for your kind message!