Hi @sjjs. I have had stable and asymptomatic CCUS for many years with DNMT3a and TET2 mutations. Both had high VAFs (the frequency at which a variant/mutation is detected in a specimen). For many years my Platelet count was in the 90-120K range. (Normal is 150-450K). Five or so years ago, my platelets dropped into the 90-100K range. I have recently acquired a new mutation (CUX-1). Along with the new mutation, my platelets have decreased to the mid-70 to 80K range over four months in a row. Other than fatigue, I still have been asymptomatic. I have seen many hematologists over the years due to change in job/insurance; MD retiring and/or leaving the practice. I’ve been to both BI/Lahey and Dana Farber for my care. (Dana Farber exclusively now for close to 5 years). I have also seen a hematologist for second opinion at Sloan Kettering. Everyone has told me the same thing you describe above. Unless something suddenly or dramatically changes in bloodwork or symptoms, a wait and see approach is standard of care. This is because treatment has the potential to make an otherwise asymptomatic person become sick. Since you are receiving EPO injections monthly, it seems you are anemic/ have a low hemoglobin. Watch your numbers for hemoglobin and hematocrit. If they change dramatically, it is time to do something more. You can have a test called NGS or rapid heme panel. This test was developed at DF for clinical decision making for patients who have CCUS/MDS. “It is a high-tech genetic test that provides an unprecedented amount of critical information to aid in the choice of treatment in a matter of days.” This can be done with a simple blood test. If your doctor isn’t ready to repeat the bone marrow biopsy, you can request this test. First be sure you are covered by your insurance, as this test can be expensive. You mentioned you are interested in learning more on Epigenetics. You may want to read the Biology of Belief, by Bruce Lipton. It is an excellent resource. Best wishes to you.
Hello and thank you Audrey for such a detailed response.
Even with living in LA, personally, I feel there is no finer medicine than at the 2 institutions you mentioned. -DF and MSK. DF is on my radar.
I am very familiar with Boston, at least I was until 1996 as my son Jason had a very rare genetic liver disease and the best care for him was at BCH. Jason was born in 1970, and we were up and back from BCH from 1973-1996. Along with another family (also from LA), we started a foundation with Harvard. We changed the trajectory of a disease that barely had a half page in a medical book to a community where the kids are living today (many sub-types identified) throughout many parts of the world 🌏.
(Jason passed away in 2021) our story is on the history link of Fiberwater dot com if you are interested.
I mention this because the world of medicine, especially being in uncharted waters, is not new to me—it's just that it has not been me.
Right now I have several members of my immediate family that have serious life threatening medical needs so I am focused on their care.
Casey O’Connell MD is considered a top doctor in this space and she is at USC Keck. (my alma mater)
Hemotologist Ron Paquette and David Hoffman (also a friend) are at Cedars.
Embarrassingly I forgot the doctor's name at UCSD but he is also well known and with San Diego only a couple of hours south of me we drove there for his presentation. Nothing earth-shattering in education however we met some wonderful people both on the medical and patient side.
Really my only decision at this time is how low to allow my hemoglobin to go before I take an EPO injection and are they is “dangerous” in the long run —-potentially causing other problems.
I wish you and everyone the very best as we travel the not-so-traveled road in relatively uncharted waters
Suzanne
Hi @pixiesusan
Thank you for explaining this. It makes more sense now. However, I still feel strongly that it is time to discuss treatment options. Your quality of life is unacceptable. I urge you to get a second opinion. And, yes, you can absolutely request sedation for your bone marrow biopsy. Good luck!!
Well, my quality of life has other aspects, too. I have spinal stenosis, which gives me sciatica at least once a week, and my back hurts to some degree every day. I do acupuncture for it, which helps so much, BUT my insurance company won't pay for it even with my primary saying it's the only thing that helps me, so I can't get it as often as I like. My Dr at Dana wants to hook me up with a back surgeon at the Brigham, but I'm just not sure I'm up for back surgery (not to mention I'm terrified by it). And money and logistics are always an issue. I'm 1.5 hours away from Dana Farber.
My doctor at Dana felt my exhaustion was too much, given that my bloodwork is good (other than platelets, which have been low since 2014; previously, they have caused some tiredness, but it's worse this year). So, per her request, my primary checked my thyroid, which was low. They started me on the lowest dose of thyroid Rx, and tomorrow, I get my first follow-up bloodwork to see if it's in the normal range now; if not, they will up the dose. So that may make a difference in my exhaustion.
Yesterday, I had a good day. I walked the dog 1.5 miles. Just for the record, I'm also a senior citizen. 😉
Usually, the first line of defense for low platelets is steroids. I've done that, and I'd rather not do it again. Getting transfused with platelets is uber expensive, and I'm not sure my insurance will pay for it, especially since I don't have any bleeding issues. Or do you mean treatment for CCUS (is there any)?
I'm sure you have a life outside this forum, and I greatly appreciate you answering so often and so quickly, but don't feel you have to answer immediately.
Hi @sjjs
First, please accept my condolences for the loss of your son, Jason. I am a mother of four and cannot imagine anything more tragic than the loss of one of my children. Your having developed a foundation for other children who have the same diagnosis Jason did is a phenomenal and selfless gift of love. Those children and their parents have been truly blessed by your kindness.
I'm sorry to hear about your family and the difficult time you all are going through. Be sure not to forget yourself in all of this. It is important to stay on top of your labs, with further testing if and when needed.
Hemoglobin levels can get quite low before people become symptomatic. If you start dropping below 10 for two consecutive visits, are getting more fatigued than usual or having unexplained shortness of breath, it is time to see your hematologist for further workup. And of course, even without those parameters, you should reach out to him/her any time you feel unwell.
Well, my quality of life has other aspects, too. I have spinal stenosis, which gives me sciatica at least once a week, and my back hurts to some degree every day. I do acupuncture for it, which helps so much, BUT my insurance company won't pay for it even with my primary saying it's the only thing that helps me, so I can't get it as often as I like. My Dr at Dana wants to hook me up with a back surgeon at the Brigham, but I'm just not sure I'm up for back surgery (not to mention I'm terrified by it). And money and logistics are always an issue. I'm 1.5 hours away from Dana Farber.
My doctor at Dana felt my exhaustion was too much, given that my bloodwork is good (other than platelets, which have been low since 2014; previously, they have caused some tiredness, but it's worse this year). So, per her request, my primary checked my thyroid, which was low. They started me on the lowest dose of thyroid Rx, and tomorrow, I get my first follow-up bloodwork to see if it's in the normal range now; if not, they will up the dose. So that may make a difference in my exhaustion.
Yesterday, I had a good day. I walked the dog 1.5 miles. Just for the record, I'm also a senior citizen. 😉
Usually, the first line of defense for low platelets is steroids. I've done that, and I'd rather not do it again. Getting transfused with platelets is uber expensive, and I'm not sure my insurance will pay for it, especially since I don't have any bleeding issues. Or do you mean treatment for CCUS (is there any)?
I'm sure you have a life outside this forum, and I greatly appreciate you answering so often and so quickly, but don't feel you have to answer immediately.
Hi @pixiesusan
I too have Hypothyroidism and it can certainly cause extreme exhaustion when untreated. Do you know your TSH levels?
Have you explored Epidural Steroid Injections for your spinal stenosis? I would ask your insurance carrier if they are covered. I would strongly advise against back surgery. This is not always the best option and most likely not even an option at all with your platelet level.
Hi @pixiesusan
I too have Hypothyroidism and it can certainly cause extreme exhaustion when untreated. Do you know your TSH levels?
Have you explored Epidural Steroid Injections for your spinal stenosis? I would ask your insurance carrier if they are covered. I would strongly advise against back surgery. This is not always the best option and most likely not even an option at all with your platelet level.
Yes, we know that my platelet levels are too low for surgery, but I was told we'd work it out if it was needed. I do know 2 people with my back problem, in the same area of the back, who have had surgery. One said she wished she had done it 20 years before; the other said it's better than it was but still has some back issues. I'm not on the back surgery wagon train, but I thought I might get a Zoom (or whatever they use) consult as I had an MRI on it about 7 months ago and was told we could use that.
I have to tell you the thought of an epidural injection is not something I'd like to entertain, if possible. I do have osteopenia, and it has gotten worse over the past 10 years. I was told when I tried rehab that I could only get a certain amount of injections because the steroid is bad for your bones - although I believe getting them injected in a specific spot is less damaging to your bones than taking them orally.
I'll get my new TSH levels when I see my doctor, but I believe 6 weeks ago it was 5.580, which I know I didn't describe correctly; I said low where it's actually high, but it means my thyroid isn't working as well, as it should, is that correct? And t4 Free was .88, which I think was in the normal range.
As an aside, health care when I live, I feel, is iffy unless maybe you can afford concierge health care, which I can't. Over the past few years, it's scary how many doctors around here have gone that route. My doctor used to be good, and he probably still is, but because we have a HUGE shortage of primary care doctors here (and nationwide), he doesn't have much time, and I feel that at times, my care isn't what it should be. But there is no way I'd be able to find another primary, so I feel like I can't change. An example is my exhaustion; months ago, my primary said, "Well, you're pushing 70, it's normal." And it wasn't until my doctor at Dana sent him a letter about the TSH tests that they were done.
Yes, we know that my platelet levels are too low for surgery, but I was told we'd work it out if it was needed. I do know 2 people with my back problem, in the same area of the back, who have had surgery. One said she wished she had done it 20 years before; the other said it's better than it was but still has some back issues. I'm not on the back surgery wagon train, but I thought I might get a Zoom (or whatever they use) consult as I had an MRI on it about 7 months ago and was told we could use that.
I have to tell you the thought of an epidural injection is not something I'd like to entertain, if possible. I do have osteopenia, and it has gotten worse over the past 10 years. I was told when I tried rehab that I could only get a certain amount of injections because the steroid is bad for your bones - although I believe getting them injected in a specific spot is less damaging to your bones than taking them orally.
I'll get my new TSH levels when I see my doctor, but I believe 6 weeks ago it was 5.580, which I know I didn't describe correctly; I said low where it's actually high, but it means my thyroid isn't working as well, as it should, is that correct? And t4 Free was .88, which I think was in the normal range.
As an aside, health care when I live, I feel, is iffy unless maybe you can afford concierge health care, which I can't. Over the past few years, it's scary how many doctors around here have gone that route. My doctor used to be good, and he probably still is, but because we have a HUGE shortage of primary care doctors here (and nationwide), he doesn't have much time, and I feel that at times, my care isn't what it should be. But there is no way I'd be able to find another primary, so I feel like I can't change. An example is my exhaustion; months ago, my primary said, "Well, you're pushing 70, it's normal." And it wasn't until my doctor at Dana sent him a letter about the TSH tests that they were done.
Sorry, @pixiesusan Strike that thought. You would not qualify for Epidural steroid injection with your platelet level. I said that without taking your levels into consideration.
You are correct. 5.580 is not a number I understand within the context of TSH. You may have the number written incorrectly. TSH, or thyroid stimulating hormone is elevated when you have an underactive thyroid or hypothyroidism. This is because when you are not producing enough thyroid hormone, the gland is stimulated (high TSH) to make more.
I would like to make it clear to you and all other patients on this forum, that although I am a nurse, I am speaking only from my own experience as a CCUS patient myself when I talk to people in this support group. Please don’t take my advice over the advice of your doctor. Instead, please use my knowledge to help you make more informed decisions for yourself.
I am heading out for the night, but glad to talk to you more if needed. I hope you will get answers you need very soon.
Sorry, @pixiesusan Strike that thought. You would not qualify for Epidural steroid injection with your platelet level. I said that without taking your levels into consideration.
You are correct. 5.580 is not a number I understand within the context of TSH. You may have the number written incorrectly. TSH, or thyroid stimulating hormone is elevated when you have an underactive thyroid or hypothyroidism. This is because when you are not producing enough thyroid hormone, the gland is stimulated (high TSH) to make more.
I would like to make it clear to you and all other patients on this forum, that although I am a nurse, I am speaking only from my own experience as a CCUS patient myself when I talk to people in this support group. Please don’t take my advice over the advice of your doctor. Instead, please use my knowledge to help you make more informed decisions for yourself.
I am heading out for the night, but glad to talk to you more if needed. I hope you will get answers you need very soon.
I fully understand you are not giving medical advice; you are speaking from your own personal experience. No worries there. I'm not going to learn something here and demand that my doctor do it; however, having this information does allow me to figure out what questions I need to ask at my next visit. And it's nice to know that I'm not the only person with this problem, which is really so comforting.
My TSH test says: Normal range: 0.460 - 4.680 uIU/mL. It's shown as a bar graph with that range in green, and I'm in the yellow range at 5.580. So, that means that my thyroid isn't working well. Let's hope the Rx I'm taking is helping.
I fully understand you are not giving medical advice; you are speaking from your own personal experience. No worries there. I'm not going to learn something here and demand that my doctor do it; however, having this information does allow me to figure out what questions I need to ask at my next visit. And it's nice to know that I'm not the only person with this problem, which is really so comforting.
My TSH test says: Normal range: 0.460 - 4.680 uIU/mL. It's shown as a bar graph with that range in green, and I'm in the yellow range at 5.580. So, that means that my thyroid isn't working well. Let's hope the Rx I'm taking is helping.
I'm not used to seeing it documented that way. Yes, your thyroid function is decreased. It is only slightly out of range.. a small dose of thyroid supplementation should be helpful. It will normally take about three weeks for you to start feeling the effects of the medication however. This is does to the way the medication is metabolized in your body.
Hi @sjjs
First, please accept my condolences for the loss of your son, Jason. I am a mother of four and cannot imagine anything more tragic than the loss of one of my children. Your having developed a foundation for other children who have the same diagnosis Jason did is a phenomenal and selfless gift of love. Those children and their parents have been truly blessed by your kindness.
I'm sorry to hear about your family and the difficult time you all are going through. Be sure not to forget yourself in all of this. It is important to stay on top of your labs, with further testing if and when needed.
Hemoglobin levels can get quite low before people become symptomatic. If you start dropping below 10 for two consecutive visits, are getting more fatigued than usual or having unexplained shortness of breath, it is time to see your hematologist for further workup. And of course, even without those parameters, you should reach out to him/her any time you feel unwell.
@sjjs Please understand I am not trying to give you medical advice.. only arm you with the info you may need to help you make informed decisions about your care.
I'm not used to seeing it documented that way. Yes, your thyroid function is decreased. It is only slightly out of range.. a small dose of thyroid supplementation should be helpful. It will normally take about three weeks for you to start feeling the effects of the medication however. This is does to the way the medication is metabolized in your body.
I've been on it for 6 weeks, but someone (not a doctor) told me that different people react in different ways, so we'll see what the new test results are this week.
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Hello and thank you Audrey for such a detailed response.
Even with living in LA, personally, I feel there is no finer medicine than at the 2 institutions you mentioned. -DF and MSK. DF is on my radar.
I am very familiar with Boston, at least I was until 1996 as my son Jason had a very rare genetic liver disease and the best care for him was at BCH. Jason was born in 1970, and we were up and back from BCH from 1973-1996. Along with another family (also from LA), we started a foundation with Harvard. We changed the trajectory of a disease that barely had a half page in a medical book to a community where the kids are living today (many sub-types identified) throughout many parts of the world 🌏.
(Jason passed away in 2021) our story is on the history link of Fiberwater dot com if you are interested.
I mention this because the world of medicine, especially being in uncharted waters, is not new to me—it's just that it has not been me.
Right now I have several members of my immediate family that have serious life threatening medical needs so I am focused on their care.
Casey O’Connell MD is considered a top doctor in this space and she is at USC Keck. (my alma mater)
Hemotologist Ron Paquette and David Hoffman (also a friend) are at Cedars.
Embarrassingly I forgot the doctor's name at UCSD but he is also well known and with San Diego only a couple of hours south of me we drove there for his presentation. Nothing earth-shattering in education however we met some wonderful people both on the medical and patient side.
Really my only decision at this time is how low to allow my hemoglobin to go before I take an EPO injection and are they is “dangerous” in the long run —-potentially causing other problems.
I wish you and everyone the very best as we travel the not-so-traveled road in relatively uncharted waters
Suzanne
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1 ReactionWell, my quality of life has other aspects, too. I have spinal stenosis, which gives me sciatica at least once a week, and my back hurts to some degree every day. I do acupuncture for it, which helps so much, BUT my insurance company won't pay for it even with my primary saying it's the only thing that helps me, so I can't get it as often as I like. My Dr at Dana wants to hook me up with a back surgeon at the Brigham, but I'm just not sure I'm up for back surgery (not to mention I'm terrified by it). And money and logistics are always an issue. I'm 1.5 hours away from Dana Farber.
My doctor at Dana felt my exhaustion was too much, given that my bloodwork is good (other than platelets, which have been low since 2014; previously, they have caused some tiredness, but it's worse this year). So, per her request, my primary checked my thyroid, which was low. They started me on the lowest dose of thyroid Rx, and tomorrow, I get my first follow-up bloodwork to see if it's in the normal range now; if not, they will up the dose. So that may make a difference in my exhaustion.
Yesterday, I had a good day. I walked the dog 1.5 miles. Just for the record, I'm also a senior citizen. 😉
Usually, the first line of defense for low platelets is steroids. I've done that, and I'd rather not do it again. Getting transfused with platelets is uber expensive, and I'm not sure my insurance will pay for it, especially since I don't have any bleeding issues. Or do you mean treatment for CCUS (is there any)?
I'm sure you have a life outside this forum, and I greatly appreciate you answering so often and so quickly, but don't feel you have to answer immediately.
Hi @sjjs
First, please accept my condolences for the loss of your son, Jason. I am a mother of four and cannot imagine anything more tragic than the loss of one of my children. Your having developed a foundation for other children who have the same diagnosis Jason did is a phenomenal and selfless gift of love. Those children and their parents have been truly blessed by your kindness.
I'm sorry to hear about your family and the difficult time you all are going through. Be sure not to forget yourself in all of this. It is important to stay on top of your labs, with further testing if and when needed.
Hemoglobin levels can get quite low before people become symptomatic. If you start dropping below 10 for two consecutive visits, are getting more fatigued than usual or having unexplained shortness of breath, it is time to see your hematologist for further workup. And of course, even without those parameters, you should reach out to him/her any time you feel unwell.
-
Like -
Helpful -
Hug
1 ReactionHi @pixiesusan
I too have Hypothyroidism and it can certainly cause extreme exhaustion when untreated. Do you know your TSH levels?
Have you explored Epidural Steroid Injections for your spinal stenosis? I would ask your insurance carrier if they are covered. I would strongly advise against back surgery. This is not always the best option and most likely not even an option at all with your platelet level.
-
Like -
Helpful -
Hug
1 ReactionYes, we know that my platelet levels are too low for surgery, but I was told we'd work it out if it was needed. I do know 2 people with my back problem, in the same area of the back, who have had surgery. One said she wished she had done it 20 years before; the other said it's better than it was but still has some back issues. I'm not on the back surgery wagon train, but I thought I might get a Zoom (or whatever they use) consult as I had an MRI on it about 7 months ago and was told we could use that.
I have to tell you the thought of an epidural injection is not something I'd like to entertain, if possible. I do have osteopenia, and it has gotten worse over the past 10 years. I was told when I tried rehab that I could only get a certain amount of injections because the steroid is bad for your bones - although I believe getting them injected in a specific spot is less damaging to your bones than taking them orally.
I'll get my new TSH levels when I see my doctor, but I believe 6 weeks ago it was 5.580, which I know I didn't describe correctly; I said low where it's actually high, but it means my thyroid isn't working as well, as it should, is that correct? And t4 Free was .88, which I think was in the normal range.
As an aside, health care when I live, I feel, is iffy unless maybe you can afford concierge health care, which I can't. Over the past few years, it's scary how many doctors around here have gone that route. My doctor used to be good, and he probably still is, but because we have a HUGE shortage of primary care doctors here (and nationwide), he doesn't have much time, and I feel that at times, my care isn't what it should be. But there is no way I'd be able to find another primary, so I feel like I can't change. An example is my exhaustion; months ago, my primary said, "Well, you're pushing 70, it's normal." And it wasn't until my doctor at Dana sent him a letter about the TSH tests that they were done.
Sorry, @pixiesusan Strike that thought. You would not qualify for Epidural steroid injection with your platelet level. I said that without taking your levels into consideration.
You are correct. 5.580 is not a number I understand within the context of TSH. You may have the number written incorrectly. TSH, or thyroid stimulating hormone is elevated when you have an underactive thyroid or hypothyroidism. This is because when you are not producing enough thyroid hormone, the gland is stimulated (high TSH) to make more.
I would like to make it clear to you and all other patients on this forum, that although I am a nurse, I am speaking only from my own experience as a CCUS patient myself when I talk to people in this support group. Please don’t take my advice over the advice of your doctor. Instead, please use my knowledge to help you make more informed decisions for yourself.
I am heading out for the night, but glad to talk to you more if needed. I hope you will get answers you need very soon.
I fully understand you are not giving medical advice; you are speaking from your own personal experience. No worries there. I'm not going to learn something here and demand that my doctor do it; however, having this information does allow me to figure out what questions I need to ask at my next visit. And it's nice to know that I'm not the only person with this problem, which is really so comforting.
My TSH test says: Normal range: 0.460 - 4.680 uIU/mL. It's shown as a bar graph with that range in green, and I'm in the yellow range at 5.580. So, that means that my thyroid isn't working well. Let's hope the Rx I'm taking is helping.
Hi there. @pixiesusan
I'm not used to seeing it documented that way. Yes, your thyroid function is decreased. It is only slightly out of range.. a small dose of thyroid supplementation should be helpful. It will normally take about three weeks for you to start feeling the effects of the medication however. This is does to the way the medication is metabolized in your body.
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1 Reaction@sjjs Please understand I am not trying to give you medical advice.. only arm you with the info you may need to help you make informed decisions about your care.
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2 ReactionsI've been on it for 6 weeks, but someone (not a doctor) told me that different people react in different ways, so we'll see what the new test results are this week.
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1 Reaction