Living with Rare Disease and Chronic Pain: What's your story?

Posted by Faithwalker007 (Renee) @faithwalker007, Feb 13 1:21pm

Hello everyone, Renee (Faithwalker007) here. I know many have felt the impact of the “War on Opioids” and the subsequent blanket lowering of dosages of their pain medications, but I’m speaking to those who have been diagnosed or are being treated specifically for a rare disease. If you don’t know if your disease or condition is rare, go to GARD, the Genetic and Rare Disease Information Center at the NIH (National Institutes of Health website.)

Rare diseases and conditions may or may not be curable, although most are not. They may or may not involve chronic pain. However, for the sake of this discussion, we are speaking of those that are incurable and involve no cure and severe chronic pain.

THE DISCUSSION TOPIC QUESTION is as follows:

HAS THE REGULATION AND GOVERNMENTAL AUTHORITY IN THE REALM OF HEALTHCARE AND THE DISPENSING OF OPIOIDS AND PAIN MANAGEMENT IMPACTED YOUR QUALITY OF LIFE AS A RARE DISEASE PATIENT and if so, HOW? Do you have any suggestions to make?

This is RARE DISEASE MONTH and I’m determined that our battle is heard but first I need to know from you the impact .

@gingerw

@faithwalker007 Renee I have an ultra rare kidney disease, called Type III Collagenofibrotic Glomerulopathy. This is a disease of the kidneys, where a type of collagen is building up on the filtering components of my kidneys. There is no school of thought where it comes from; there have been less than 50 ever diagnosed worldwide, and there is no cure. Eventually the progression is to end-stage renal disease, resulting in dialysis and transplant. I was diagnosed in early 2015 with it by Keck USC hospital, with second opinion by Cedars Sinai Hospital. Repeated kidney biopsy in late 2019 re-confirmed it. Right now I am Stage 4 kidney function.

I have no overt pain related to it, thankfully. There is nothing to be done, no cure. Because of the low number of confirmed cases, there is no research being done, as there is no money to be made there. Sad, but true.
Ginger

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I am so sorry @gingerw

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Don't know if hemochromatosis is considered a rare disease. Both parents need to carry the genetic makeup for the child to get it. My father had it and my mom carried it but was recessive in her. It was discovered that I had it after I started menopause.

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@gingerw

@faithwalker007 Renee I have an ultra rare kidney disease, called Type III Collagenofibrotic Glomerulopathy. This is a disease of the kidneys, where a type of collagen is building up on the filtering components of my kidneys. There is no school of thought where it comes from; there have been less than 50 ever diagnosed worldwide, and there is no cure. Eventually the progression is to end-stage renal disease, resulting in dialysis and transplant. I was diagnosed in early 2015 with it by Keck USC hospital, with second opinion by Cedars Sinai Hospital. Repeated kidney biopsy in late 2019 re-confirmed it. Right now I am Stage 4 kidney function.

I have no overt pain related to it, thankfully. There is nothing to be done, no cure. Because of the low number of confirmed cases, there is no research being done, as there is no money to be made there. Sad, but true.
Ginger

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@gingerw
Ginger, this is very sad to hear about, I am so sorry! You say it can be remedied by transplant? Do they know if that would cure the problem, i.e. the new kidney would not develop a similar condition? Just wondering. My heart goes out to you, what awful luck to be the one to get this! My best to you, Hank

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@jesfactsmon

@faithwalker007
Hi Renee, I can't remember specifically who had a disease that was considered rare, but I know for a fact just from my own reading of posts here on Connect that there are SO MANY that have said (as you intimated) that their doctor had arbitrarily reduced the amount of pain medication they were getting, or were cut off altogether, like Jen @bustrbrwn22 for example and lots of others. The folks this is being done to are often frantic and in a panic over their sudden and surprising situation. In no way is this the right policy!

It's obvious that doctors are feeling the heat coming down on them from the Federales with the badly executed "war on drugs". It dumbfounds me how the thing is run with such total insensitivity to the chronic pain sufferer, and for no good reason that anyone in charge can explain. Best, Hank

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Well, Hank now you can say you’ve met many with Rare Diseases! And you’re right, the damage being done across the board by the government is horrendous. For those with rare diseases it’s especially dangerous because we have little to no therapies or treatments available for our conditions at all.

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@kimcvi

Hi Renee- My name is Kim and I have Myotonia Congenita, had it my whole life and never got diagnosed until 4 years ago when I fell at work. My PCP got me in the Mayo and that is where I was diagnosed. I always thought it was just me.

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Absolutely not! You are part of an entire family! You may be one of a few with your disease but not with a rare disease. Many share in your plight if no cure, little to no treatments and no available specialists to understand what or how to care for you.
RDLA is where to gain or advocate if you need a mission.

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@rachel6

I was diagnosed with CRPS type II from car accident injuries (plus a lot of other health issues from the same cause) and it’s severely painful. Costochondritis is another and the list goes on.

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When it rains it pours but at least you know how to get an umbrella. You’re here!

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@suzanne2

Don't know if hemochromatosis is considered a rare disease. Both parents need to carry the genetic makeup for the child to get it. My father had it and my mom carried it but was recessive in her. It was discovered that I had it after I started menopause.

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I don’t know either but refer to the list in NORD to find out. There are over 6000 rare diseases. If it’s genetic it is probably on the list.

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@jesfactsmon

@gingerw
Ginger, this is very sad to hear about, I am so sorry! You say it can be remedied by transplant? Do they know if that would cure the problem, i.e. the new kidney would not develop a similar condition? Just wondering. My heart goes out to you, what awful luck to be the one to get this! My best to you, Hank

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What a good question! I never would have thought about that. I know my uncle couldn’t get a heart transplant although his heart was complete mush because of something to do with the chamber around his heart?
Anyway, would your disease be a contraindication or a cure for your disease @gingerw

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@gingerw

@faithwalker007 Renee I have an ultra rare kidney disease, called Type III Collagenofibrotic Glomerulopathy. This is a disease of the kidneys, where a type of collagen is building up on the filtering components of my kidneys. There is no school of thought where it comes from; there have been less than 50 ever diagnosed worldwide, and there is no cure. Eventually the progression is to end-stage renal disease, resulting in dialysis and transplant. I was diagnosed in early 2015 with it by Keck USC hospital, with second opinion by Cedars Sinai Hospital. Repeated kidney biopsy in late 2019 re-confirmed it. Right now I am Stage 4 kidney function.

I have no overt pain related to it, thankfully. There is nothing to be done, no cure. Because of the low number of confirmed cases, there is no research being done, as there is no money to be made there. Sad, but true.
Ginger

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@gingerw I didn't realize how bad your ckd was I'm so sorry

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@faithwalker007

What a good question! I never would have thought about that. I know my uncle couldn’t get a heart transplant although his heart was complete mush because of something to do with the chamber around his heart?
Anyway, would your disease be a contraindication or a cure for your disease @gingerw

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@faithwalker007 @jesfactsmon @bustrbrwn22 @lioness There is one documented case of a transplant for a patient with this condition. I am not in pain, so there is no opioid or pain med issue.
The hitch-in-the-git-along, for me, presents an interesting dilemma. I also have multiple myeloma, and start treatment next month [we were waiting for me to get the Covid vaccine doses before starting treatment]. I cannot be a "normal patient", gotta be a challenge. Hey, I have been a rebel all my life, why wouldn't it be different now?

I cannot be considered for a transplant until after a round of chemo, a Stem Cell Transplant, then wait at least a year. My sister bless her heart, offered to be evaluated as a living donor, but now it looks like it would be 3 years before a transplant opportunity. She will be 77 then. My case is unusual, as the mm is not the cause of the kidney issue, or vice versa. It seems all my health concerns are autoimmune, so my body is quite literally at war with itself. I am blessed to have a great care team, and hope my situation may lead to answers for someone else.
Ginger

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I don't have any rare disease but my story some of you know but for the new people I have 2back fractures Impinged nerves , fibromyalgia and had by pass surgery which will be 25 yrs old on the 18 Feb I had my 1st covid inj and on 22my second I'm concerned now as I have had s.o.b when walking low grades never had any problems before . I have Macular degeneration and Glucoma also I don't know how my heart will react to my next shot 🥺 We are all pain warriors but this concerns me because of my heart That's my story Growing old isn't for sissies .Good luck Ginger and us all

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@gingerw

@faithwalker007 @jesfactsmon @bustrbrwn22 @lioness There is one documented case of a transplant for a patient with this condition. I am not in pain, so there is no opioid or pain med issue.
The hitch-in-the-git-along, for me, presents an interesting dilemma. I also have multiple myeloma, and start treatment next month [we were waiting for me to get the Covid vaccine doses before starting treatment]. I cannot be a "normal patient", gotta be a challenge. Hey, I have been a rebel all my life, why wouldn't it be different now?

I cannot be considered for a transplant until after a round of chemo, a Stem Cell Transplant, then wait at least a year. My sister bless her heart, offered to be evaluated as a living donor, but now it looks like it would be 3 years before a transplant opportunity. She will be 77 then. My case is unusual, as the mm is not the cause of the kidney issue, or vice versa. It seems all my health concerns are autoimmune, so my body is quite literally at war with itself. I am blessed to have a great care team, and hope my situation may lead to answers for someone else.
Ginger

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You are definitely at war. Good thing you aren’t fighting this war alone! May I use your case for as an example of asked for one at the RDLA meeting in DC at the end of the month?

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