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oldkarl
@oldkarl

Posts: 604
Joined: May 25, 2016

Rare Disease Day and Involvement

Posted by @oldkarl, Wed, Feb 28 10:08am

Today I received the latest message from NORD.Gov. It speaks of today being International Rare Disease Day. The point is to recognize that there are many diseases or disorders which are built into the lives of less than 200,000 Americans, or less than one in 100,000 or so around the world. I don't know the exact definition of "rare" here. Part of the confusion around Amyloidosis is that there is actually no consensus definition of the disease name, but NORD seems to estimate that about 3,000 persons are diagnosed each year. I think this means that, actually, about 100,000 Americans actually are host to this misfolded protein disease, but only about 1/30 of them are diagnosed. Doctors seem to do what they can to protect the disease from modern information and technology. The demand by Medicare to peg the whole diagnosis on biopsies is ridiculous, given that only about 60% of otherwise proven patients show positive in any biopsy, and some of the biopsies show only about 10-15%, according to Mayo Clinic. My form seems to be Gelsolin, a form in less than 1 in 1,000,000 persons, originating in Finland during the time of the Vikings.
Most doctors will never see a patient with one of the more common forms of Amyloidosis, hATTRwt, or others like it. Yet one of my doctors, a cardiologist, bragged he had seen "Hundreds of Amyloidosis patients".

REPLY

Dear oldkarl,my simple way of trying to help is this: the doctors have no backup help or coordination from any source to address this issue. Much is not known of how to address this issue. they would be sticking their neck out to be ridiculed or put down by all other medical practicioners. Who is keeping any and or all medical files on this condition?. Money wise, what could be gained with this knowledge? Quite a bit I suppose. I am just a layman so forgive any inadequate writings. i may have submitted. But, i am very, very curious as this could help many people with their sufferings.

@peach414144

Dear oldkarl,my simple way of trying to help is this: the doctors have no backup help or coordination from any source to address this issue. Much is not known of how to address this issue. they would be sticking their neck out to be ridiculed or put down by all other medical practicioners. Who is keeping any and or all medical files on this condition?. Money wise, what could be gained with this knowledge? Quite a bit I suppose. I am just a layman so forgive any inadequate writings. i may have submitted. But, i am very, very curious as this could help many people with their sufferings.

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@peach414144 Hi, Peachy. You are right, of course. Who do you know, besides me, who keeps their hospital and clinic and lab records about their rare diseases? Because it is a rare disease (hATTRwt) I have even put it out there for folks to download and see, especially if they match some of my or other's symptoms, signs or markers. (https://bit.Ly/1w7j4j8 under "Amyloidosis Dossier) I even update it every few days, just to be as much help as I can. But guess what. I have passed it on to a dozen doctors, and only 3 that I know of have looked at it. I really do not know how to do a better job than this. Well, I guess one more thing. When I see a doc, I have along a thumb drive with my file on it, in .pdf, so they can have it then if they want it. I change the formate often, as I see things that could be done better. At least I have the experience of thinking through the matter, and at least making an educated guess and some help in the conversations with docs. And I have about 70 years of experience now to share.

@Dear Oldkarl, thank you. You are correct. What is going on with the doctors and their relations with their patients? As an example here is a good one going on right now. Went to neurologist Monday 2/26/18 told him of the GREAT PAIN i cannot continue to live with. It has been two months now and has gotten worse with time. I am now in a wheelchair as i cannot stand upright with the pain which is worse when standing. Upon examining me he stated there are three major problems, lower spine , knee miniscus, and another whatever. Sent me immediately to MRI of spine, the next day 2/27/18 MRI of right knee and leg. WAS THEN TOLD I WILL HAVE A NERVE DETECTION TEST SOMETIME IN APRIL! From February to April? Whoa! Went home and took the Tramadol he prescribe which did nothing for the pain. Again took more Advils (my ulcers are screaming at me). Called him the next day and spoke with one of the staff (are not allowed to speak to the doctor) Also as a matter of fact you can only leave a message and will be called back withln 2 to 3 days. My god! I continued to call over and over again until a person answered the telephone. They will not give me a follow up appointment with the doctor until after the nerve conduction test. I called back crying stating I am becoming suicidal because of the pain. So please give me the write ups for the two MRI tests and I will go elsewhere to another neurologist. So, tomorrow 3/2/18 i was told go to the doctors office for what I do not know/ Either they will fit me in for the nerve conduction test or will give me the results for the two MRI tests and then dismiss me from the doctors service and i will have to go elsewhere. I do not think the doctor knows how his telephone service is set up but if he does it is not just cruel it is deadly. I need help and advice. Excuse me for crying. I am mentally stable but for how long with this horrible pain. Sincerely. Peach

@ Dear Oldkarl. Back again today 3/2/18. Went to neurologist,. they conducted the nerve conduction test and another test. The findings were: two swollen disks in the lower spine, one pinched nerve and forty percent loss with neuropathy. Will put me on Gabapentin and try another pain pill (to be picked up at the pharmacy when it will be ready later today.). Three days from now, (Monday) will be given an injection in the spine for the pain. I will then ask if physical therapy will be part of the treatment. After two months of this pain i now know why some people would become addicted and why other people would commit suicide. This horror should be addressed NOW and why has it not been? To me it appears the American Medical Association is falling apart. It is callous, hurtful and harmful. This is a shame on us Americans. And think of our veterans).

I saw an interesting Mayo Clinic video by Dr. Martha Grogan on what is amyloidosis and how does it affect the heart on Facebook this morning that I thought I would share here.

Cardiac Amyloidosis – What is Amyloid and How Does it Affect the Heart

What is amyloidosis and how does it affect the heart? Dr. Martha Grogan, an amyloid expert and cardiologist, reviews what everyone needs to know about cardiac amyloidosis – why it occurs, how it is diagnosed, and treatment options. https://mayocl.in/2yqEHyJ

Posted by Mayo Clinic on Saturday, September 29, 2018

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