It’s been a long few weeks

[+ FreshFluff]

This is so crazy, but it’s easier to explain it in bullet format. Long story short, I’m suspected of having a rare blood disorder.

-In December for a run after not running for a while.

-Ouch, quads and hamstrings are sore for a whole. Pain at the back of the left knee persists.

-Knee MRI ordered. Shows moderate to several patellofemoral syndrome, unusual for my age and size. I start PT

-I am referred to ortho. but I keep asking why the pain is mostly back of the knee

-One ortho says it sounds like sciatica. Lumbar spine MRI ordered

-No real problems on the lumbar spine...except that the bone marrow signal is low.

-Labs are ordered, including a smear. All negative except for platelets, which are 2 points over the top of the normal range.

-Referred to two general oncoligists who dismiss it. I hoped they were right, but I wanted to make sure.

-I set a phone appt with my old hematologist across the country. He says the comination of this MRI finding and w/no iron deficiency means a rare blood disorder (caused by acquired gene mutations) needs to be ruled out.

-He orders a few genetic and other lab tests for this rare disorder.

 

-I can’t help but go into my 23 and Me raw data. Took me a while to sort it out, but looks like i have one of the mutations and thus the rare blood disorder. Assuming the 23 and me lab didn’t screw this up, looks like I have this rare blood disorder, which can cause clots and sometimes eventually morphs into leukemia.

 

I’m hoping 23 and Me is wrong, but I have a bad feeling about this. I’m pretty upset. You all have been very supportive so I thought I’d talk about this here.

 

Edit: I really appreciate the support. I don’t want to present this as something it’s not. Depending on what this is, it may not affect lifespan. But it certainly puts me at higher risk.

Edited April 12, 2021 by FreshFluff

[+ FrankR]

This is so crazy, but it’s easier to explain it in bullet format. Long story short, I’m suspected of having a rare blood disorder.

-In December for a run after not running for a while.

-Ouch, quads and hamstrings are sore for a whole. Pain at the back of the left knee persists.

-Knee MRI ordered. Shows moderate to several patellofemoral syndrome, unusual for my age and size. I start PT

-I am referred to ortho. but I keep asking why the pain is mostly back of the knee

-One ortho says it sounds like sciatica. Lumbar spine MRI ordered

-No real problems on the lumbar spine...except that the bone marrow signal is low.

-Labs are ordered, including a smear. All negative except for platelets, which are 2 points over the top of the normal range.

-Referred to two general oncoligists who dismiss it. I hoped they were right, but I wanted to make sure.

-I set a phone appt with my old hematologist across the country. He says the comination of this MRI finding and w/no iron deficiency means a rare blood disorder (caused by acquired gene mutations) needs to be ruled out.

-He orders a few genetic and other lab tests for this rare disorder.

 

-I can’t help but go into my 23 and Me raw data. Took me a while to sort it out, but looks like i have one of the mutations and thus the rare blood disorder. Assuming the 23 and me lab didn’t screw this up, looks like I have this rare blood disorder, which can cause clots and sometimes eventually morphs into leukemia.

 

I’m hoping 23 and Me is wrong, but I have a bad feeling about this. I’m pretty upset. You all have been very supportive so I thought I’d talk about this here.

Sounds like an emotional rollercoaster. Hopefully you can get a definitive answer and a treatment plan lined up soon. Be well!

[+ WilliamM]

Hugs, @FreshFluff and prayers. You are one of the most liked member here, for excellent reasons. You are a very nice woman whom I was able to get to know a little by email one Summer.

 

Please let us know!. PLEASE.

 

Godspeed

[+ AntonGraza]

Hey Fluff - Sorry you are having aches and pains.

As for the 23 data, it was not set up to generate data under ISO 17025 testing methods and be a medical diagnosis provider. You are doing the right thing, seeing various specialist and gathering data.

Try to stay off the computer and looking at medical diagnoses. I know it is hard, but there are SO many articles that are generalized, with the pertinent information not explained very well. Get your own tests and listen to your experts.

I am a big fan of PT, they fix me up, tell me what movements-activities will result in pain/ problems, and help me adjust my life into these new parameters. When I hit a year or two over 40, I noticed I had a marked decrease in flexibility and could not "iron man" weekend warrior -work for long periods of time like I once had and bounce back pain free.

Try not to worry and let us know how you are doing.

Take care - Anton

[BSR]

I just hope you get a diagnosis soon. No matter what your problem turns out to be, not knowing is even worse. At least once you know, even if it's bad news, you can take the bull by the horns & deal with it. Best wishes for what lies ahead.

[Guest]

Pain in the back of the knee is not from PFS, even though you may have some inflammation due to sudden change in activity levels. Two points above the reference range for platelets is almost certainly normal. Worth rechecking in a few months. Follow your doctors' advice. It's highly unlikely you have some rare illness. In the future, make sure to change any activity levels gradually.

[+ tassojunior]

what did we have to worry about before 23 and Me?

 

hoping all is normal.

[+ FreshFluff]

Pain in the back of the knee is not from PFS, even though you may have some inflammation due to sudden change in activity levels.

 

Yes, everyone seems mystified by this. That’s why the ortho thought it might be sciatica, but that was ruled out.

 

Two points above the reference range for platelets is almost certainly normal. Worth rechecking in a few months. Follow your doctors' advice. It's highly unlikely you have some rare illness. In the future, make sure to change any activity levels gradually.

 

I thought the same thing at first. Platelets of 403+bone marrow finding= Myeloproliferstive neoplasm? It seemed unlikely, particularly when I was dehydrated and the phlebotomist struggled to draw the blood. I figured that would inflate the count. But then I looked at the lab order and located the CALR mutation in my raw data. I very much hope this is wrong.

Edited April 12, 2021 by FreshFluff

[Guest]

For God's sake, you do not have essential thrombocythemia. Your OP said "platelets, which are 2 points over the top of the normal range," but I'm betting that the lab report said "reference range," not "normal range." The reference range just means that 95% of normal controls are in that range. Which means, guess what, 5% or normal people are outside that reference range, especially when you're less than 1% off. I don't know about your MRI report, but if there was anything even possibly worrisome about the report, the radiologist would almost certainly have advised further workup. The official tree of radiologists is the hedge, and they will advise ruling out some pretty outlandish diagnoses if there's anything consistent with the readings. An MRI doesn't "rule out" sciatica, but your history might. If the pain is only in the back of your knee, it's not sciatica. If the pain goes from your buttocks down the back of your thigh to the back of your knee, that is quite suggestive of a pinched nerve, somewhere. It could be from the piriformis muscle, not the spinal cord. Did your doctor consider repeating the CBC before jumping on the thought of a CALR mutation? Two oncologists told you not to worry about this, so you contacted a 3rd? Perhaps obsessiveness is the problem...

I haven't examined you, but has anyone considered simple hamstring tendonitis? Perhaps you're spooking your own doctors? In medical training, we are taught that 80% of the diagnosis comes from history, 15% from exam, and 5% from other studies. MRI's don't provide diagnoses. Good clinicians do.

[+ FreshFluff]

I very much hope you’re right, Unicorn, and that the hematologist is ovely cautious. What drove all this was the low bone marrow finding on the lumbar MRI; I would not have given a second thought to the lab results. The hematologist had treated me previously for anemia, and I went back to him after the other two told me they didn’t see a lot of blood cancers. I did my best to avoid spooking him; I briefly told him the history and asked what he thought. He said he sees the low bone marrow finding often and usually doesn’t work it up. But because my platelets have been on the high end for a while and anemia has resolved, he wanted to rule out MPNs and rheumatoid arthritis. I thought for sure he‘d say it was nothIng amd that would be the end of it.

 

As for the knee pain, my PT thinks it’s likely related to the muscular asymmetries that caused the PF syndrome . There is nothing to suggest sciatica here. TBH, I was limping for a couple of weeks,, but the pain improved.

 

If I’m scared, it’s because I’ve been on the wrong side of the statistics several times already. My seen-it-all pain doctor was stunned to see moderate/severe patellofemoral syndrome on someone my age and weight. When I had horrible arm and scapila pain, my GP was stunned that a presumed muscle spasm turned out to be severe multi-levels cervical spine stenosis. I still remember the confusion their voices (both were over the phone) as they told me. I have managed to beat the c-spine issue without surgery so far and hope I can continue that.

 

Again, I’m grateful for the support.

Edited April 12, 2021 by FreshFluff

[Guest]

...the other two told me they didn’t see a lot of blood cancers...

I guess it's possible they don't see "a lot" of blood cancers, but a heme/onc specialist has to go through 3 years of fellowship training even after finishing a residency, and must pass some pretty difficult tests, so it's pretty unlikely they wouldn't know how to work up some pretty common lab tests and MRI findings. Cervical spine stenosis is incredibly common as well, not some esoteric diagnosis. I've seen more patients with cervical spine stenosis than Fabio has hairs on his head. I'm glad you didn't have the surgery. Am I recalling correctly that I discouraged that at the time?

My best advice to you: stop relying on MRI's to try to answer your questions. This will likely lead to more trouble. If you'd had the surgery, you'd be in worse shape, most likely.

Edited April 12, 2021 by Unicorn

[+ Lucky]

Best wishes, @FreshFluff.

[+ sync]

The waiting is always an excruciating drain. I hope there is something/someone available to provide some distraction/amusement/comfort for you in the interim.

 

Your forum fans are rooting for you.

[Guest]

...But because my platelets have been on the high end for a while and anemia has resolved, he wanted to rule out MPNs and rheumatoid arthritis. ..

So it sounds like not only are your platelets stable, but they've actually obviously come down, if they're now essentially in the reference range. RA is a symmetrical polyarthritis involving primarily the small joints. While it is certainly possible to have RA without rheumatoid factor or CCP (ACPA) antibodies present, the diagnosis does require certain diagnostic criteria which you don't have (unless you're holding back on describing your symptoms to us), so you do not have RA (or essential thrombocytosis or other myeloproliferative disorder).

I'm wondering why all of your physicians seem to be jumping to MRI's so soon. MRI's are always rife with incidental and irrelevant findings, and can be particularly dangerous when dealing with patients with tendencies towards hypochondriasis. It looks as though you may be doctor-shopping to find doctors who will feed into your anxiety and jump to MRI's and esoteric diagnoses. Most patients would be comforted by their primary care physician telling them that their platelet levels are not concerning. Some might need a hematologist consult. But you not only weren't comforted by two hematologists, but you went to a 3rd.

Unless there's an important part of the history you're not telling us, if that 3rd hematologist thinks you might have RA, he certainly appears to be lacking in clinical skills. Neck and one-sided knee pain are not what one sees in RA. These are the diagnostic criteria for RA (it's more common to call the ACPA antibodies CCP antibodies):

 

Also much more supportive of RA would be morning stiffness on awakening, which improves markedly in one hour, typical findings on X-ray (or MRI, I suppose), and a symmetrical quality to the joint pain (such as wrists or knuckles in both hands).

 

Please, do yourself a favor, and put some trust in the many years of training and clinical experience of your physicians. Having one copy of a genetic disorder does not give you that disorder. Most of us carry one copy of a lot of genetic disorders, but most of the time two copies are needed (which is why it's a bad idea to have children with relatives). Again, unless there's something you're not telling us, I would dump the 3rd heme/onc doctor, and stick with one of the first two, who appear to be more level-headed. Good luck.

[+ azdr0710]

Hey Fluffy.....

 

I can't keep up with the excruciatingly detailed medi-chat upthread (!), but can figure out how to keep you in my mind with thoughts of your steady recovery.....

 

and remember, there's always El Paso!!!

 

[+ José Soplanucas]

I send you love and a bear hug, @FreshFluff , let's hope for the best.

[+ sniper]

You could have the mutation and not have the disorder if it's recessive. Good luck.

Unicorn your bedside manner leaves something to be desired.

[+ FreshFluff]

@latbear4blk,@sync, @FrankR, @AntonGraza,@Lucky, @BSR : I appreciate the outpouring of support. I really hesitated to post this when I have no idea what's going on, but this rare disorder sounded so scary. A few years ago, I thought I would be fine for a long time. Since then, I've had so many early onset issues (BCC, knee, neck), that almost nothing seems unbelievable now.

 

@Unicorn and @sniper

 

Based on what the heme said, the mutation for this particular issue are somatic/acquired rather than germline. The diagnostic algorithm he described presumes you have the disorder if any of the mutations are found.

 

That said, I realized after I posted this that one of the CALR mutation is a deletion. They list it at "-" or "TTAC" or whatever the sequence is. So it's unclear from the 23 and Me raw data whether , say “TTAC/TTAC” means “TTAC deletion“ or “noemail sequence with TTAC present.” mutation/deletion. As many of you have recommended, I'm just going to wait for the real lab to get back to me.

 

@azdr0710 Thanks for that, truly. I'll go to that railroad platform in El Paso with you any day!

Edited April 13, 2021 by FreshFluff

[+ purplekow]

A few things: 1. CALR positive patient with MFN actually have a better prognosis than those who do not have it if they are negative for other markers such as JAK 2.

2. As we age, the sites of bone marrow decrease in size and intensity in each of us. If you are younger than expected for the level of bone marrow loss, it may be a natural process and not carry the significance of MFN.

3. That your other blood tests are normal or essentially normal, suggests that this is not a condition that has reached a level where intervention is necessary even if you should have MFN.

If you were my patient, and I had the full details of what was going on, I would be able to give you more details about your condition. At the very least, a JAK 2 test would be done. If that is present, then there is greater reason for concern but that alone will not give a definitive diagnosis. SED rate and CPR are tests for inflammation and may be of benefit in a general way.

 

I would also tell you, that until you have all the results, worrying about the outcome is natural but ultimately without benefit. You have gotten all the good you can out of worrying when it led you to seek out medical care. Any further worrying is not productive. Alternatives to deal with your worry might include meditation and exercise (as permitted by you knee pain, which btw, may be piriformis syndrome as Unicorn mentioned).

 

As with anyone with an unknown health situation, I hope for the best for you. If this turns out to be MFN, and you are just CALR positive, that portends a better prognosis. That all your other tests are normal also portends a good outcome. Treatments for conditions such as MFN are improving all the time. Until you are sure, do not stress yourself further and once you are sure, determine the best path to take to insure the best outcome you can have.

[+ honcho]

All I can do is keep you in my positive thoughts, and hope the best possible for you.

[+ FreshFluff]

A few things: 1. CALR positive patient with MFN actually have a better prognosis than those who do not have it if they are negative for other markers such as JAK 2.

2. As we age, the sites of bone marrow decrease in size and intensity in each of us. If you are younger than expected for the level of bone marrow loss, it may be a natural process and not carry the significance of MFN.

3. That your other blood tests are normal or essentially normal, suggests that this is not a condition that has reached a level where intervention is necessary even if you should have MFN.

If you were my patient, and I had the full details of what was going on, I would be able to give you more details about your condition. At the very least, a JAK 2 test would be done. If that is present, then there is greater reason for concern but that alone will not give a definitive diagnosis. SED rate and CPR are tests for inflammation and may be of benefit in a general way.

 

I would also tell you, that until you have all the results, worrying about the outcome is natural but ultimately without benefit. You have gotten all the good you can out of worrying when it led you to seek out medical care. Any further worrying is not productive. Alternatives to deal with your worry might include meditation and exercise (as permitted by you knee pain, which btw, may be piriformis syndrome as Unicorn mentioned).

 

As with anyone with an unknown health situation, I hope for the best for you. If this turns out to be MFN, and you are just CALR positive, that portends a better prognosis. That all your other tests are normal also portends a good outcome. Treatments for conditions such as MFN are improving all the time. Until you are sure, do not stress yourself further and once you are sure, determine the best path to take to insure the best outcome you can have.

 

 

I appreciate the reassurance, @purplekow. This was precisely what was on the lab order. JAK2/CALR/MPL, BCR/ABL1, SED, C-reactive protein, Rheum arthritis factor. The latter was added because my ANA tests have turned out mixed pos/neg in the past. As I said, despite somad bad news over the past few years, I was stunned that this testing cascade ended up with a zebra like MPN.

 

You are right that I have gotten everything possible out of worrying. As many have recommended, I'll deal with it when it comes. I'm trying to walk as much as possible. The knee has improved a great deal.

[+ purplekow]

I appreciate the reassurance, @purplekow. This was precisely what was on the lab order. JAK2/CALR/MPL, BCR/ABL1, SED, C-reactive protein, Rheum arthritis factor. The latter was added because my ANA tests have turned out mixed pos/neg in the past. As I said, despite somad bad news over the past few years, I was stunned that this testing cascade ended up with a zebra like MPN.

 

You are right that I have gotten everything possible out of worrying. As many have recommended, I'll deal with it when it comes. I'm trying to walk as much as possible. The knee has improved a great deal.

Hoping for the best for you. Keep us informed. If there is something that the forum can do, I am sure the forum will do it. That certainly applies to me.

[+ FreshFluff]

Negative. That’s not an absolute rule out, but he said none of the non-genetic tests gave reason for concern either After all, he said the basis for this work up was soft in the first place. If platelet count increases, then I should come back to him, but there’s no reason to expect that.

 

Thanks for all the help, everyone.

Edited April 20, 2021 by FreshFluff

[Guest]

... After all, he said the basis for this work up was soft in the first place...

You can say that again. For your own sake, really, try to trust your doctors in the future. And be very careful of MRI's. They can drive a person crazy if one is always looking for a worst-case scenario. There was an interesting study a few years back (I can probably look it up if anyone's interested): people who get MRI's early on when they have back pain or sciatica have significantly worse outcomes than those who don't. Try to find calm, knowledgeable physicians rather than those who are quick to order tests. Ordering excessive tests can often be a sign of a physician with marginal clinical skills.

[bostonman]

Negative. That’s not an absolute rule out, but he said none of the non-genetic tests gave reason for concern either After all, he said the basis for this work up was soft in the first place. If platelet count increases, then I should come back to him, but there’s no reason to expect that.

 

Thanks for all the help, everyone.

 

Very relieved to know. Hoping all just gets better from here.