1. < Chronic Pain

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

Posted by Faithwalker007 (Renee) @faithwalker007, Feb 13, 2021

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 .

Interested in more discussions like this? Go to the Chronic Pain Support Group.

Mentor
Ginger, Volunteer Mentor | @gingerw | Feb 14, 2021

@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

REPLY
4 replies
Faithwalker007 (Renee) | @faithwalker007 | Feb 14, 2021

You need to join RDLA, and become an advocate. NOBODY should have to wait and die or get a transplant. The FDA and scientists should be working on medications and a cure for you! Hop on board now!

REPLY
bustrbrwn22 | @bustrbrwn22 | Feb 14, 2021
In reply to @gingerw "@faithwalker007 Renee I have an ultra rare kidney disease, called Type III Collagenofibrotic Glomerulopathy. This is..." + (show)
@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

Jump to this post

I am so sorry @gingerw

REPLY
suzanne2 | @suzanne2 | Feb 15, 2021

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.

REPLY
1 reply
Hank | @jesfactsmon | Feb 15, 2021
In reply to @gingerw "@faithwalker007 Renee I have an ultra rare kidney disease, called Type III Collagenofibrotic Glomerulopathy. This is..." + (show)
@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

Jump to this post

@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

REPLY
1 reply
Faithwalker007 (Renee) | @faithwalker007 | Feb 15, 2021
In reply to @jesfactsmon "@faithwalker007 Hi Renee, I can't remember specifically who had a disease that was considered rare, but..." + (show)
@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

Jump to this post

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.

REPLY
Faithwalker007 (Renee) | @faithwalker007 | Feb 15, 2021
In reply to @kimcvi "Hi Renee- My name is Kim and I have Myotonia Congenita, had it my whole life..." + (show)
@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.

Jump to this post

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.

REPLY
Faithwalker007 (Renee) | @faithwalker007 | Feb 15, 2021
In reply to @rachel6 "I was diagnosed with CRPS type II from car accident injuries (plus a lot of other..." + (show)
@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.

Jump to this post

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

REPLY
Faithwalker007 (Renee) | @faithwalker007 | Feb 15, 2021
In reply to @suzanne2 "Don't know if hemochromatosis is considered a rare disease. Both parents need to carry the genetic..." + (show)
@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.

Jump to this post

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.

REPLY
1 reply
Faithwalker007 (Renee) | @faithwalker007 | Feb 15, 2021
In reply to @jesfactsmon "@gingerw Ginger, this is very sad to hear about, I am so sorry! You say it..." + (show)
@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

Jump to this post

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

REPLY
1 reply
View MoreView Less
Please sign in or register to post a reply.