Genetic Sequencing and PMR

Hi @jfannarbor, Thanks for starting this discussion. I've done the Mayo Clinic GeneGuide which is no longer available and I think has been replaced by Helix (https://www.helix.com/). I haven't had genome sequencing done which I think is used to look at genetic mutations in unhealthy cells. My PMR is currently in remission. I was not familiar with pathogenicity for calpainopathy so found the following article on the topic in case others want more information.

"To date, all individuals diagnosed with autosomal dominant calpainopathy have inherited a pathogenic CAPN3 variant from a heterozygous ..." --- Calpainopathy: https://www.ncbi.nlm.nih.gov/books/NBK1313/

I do have aches in the shoulders and hips most every day when I wake up but it's nothing like the PMR pain which like you say disappears within a few hours with the prednisone dosage. I find that some mild exercises help me and I try to do them on a daily basis. When I miss a day or two, I definitely feel the aches more in the shoulders and hips.

@kenc, @oldkarl and others may have some information or thoughts to share on genome sequencing.

@jfannarbor and @johnbishop; yes, I have some thoughts on genome sequencing: Now that sequencing and other formats of research have begun to take a huge dip in expense, I am amazed at just how poorly educated and experienced the mass of USA doctors really is. Here is what tells me this. 1. Medicare and most other insurance (AARP, UHC, etc) require that orders for any genetic workup come through (as Medicare puts it) someone with MD or DO after their name. 2. In the past year I have requested this order from at least 20 MDs and DOs. I have paid for from my own funds 4 exome (small pieces of one's whole genetic package, all showing a variety of various genetic issues including Gelsolin, LGMDr23, etc; but much needed additional genome info (99%) has not been produced. EVERY pro I have approached has said something like "I really can not do that because I am not an expert in the field." 3. In easier words, "I do not know how to pick up my telephone and call either NIH, an insurance company, or a professional lab such as Nebula or Dante or GeneDX and talk to someone." Or, "I can call you, oldkarl when you miss a payment, but not call the pros when some medical service is needed." The only positive responses I had when I requested the process with Medicare coverage through the insurance company was simple. "We will gladly do this after you send us a huge amount of money." One large and complex organization wanted $7,000 up front, and another (last month) wanted $3,000, and I would still have to make another 5,000 mile trip at my own expense to get the work done. Sorry, but if you want the work done, you would best go to the bank and borrow $10,000 for expenses. Then, send the money to Purina for Cat-Scan food. You will likely need a few more cat scans before you die. Anyway, I could not resist that. You should know that my Primary, whom I have worked with for about 20 years, was one of those who turned me away. I think he is just lazy. And he sent me to the guy who wanted $3,000 and my 5,000 mile trip. Or you can send a small portion of that to Sequencing.com, Ambry, etc, or another lab not working through insurance), and get the work done right the first time.

I have talked to three MDs about getting my genome sequenced and or to act on the information that I got related to LGMD2A via my variant of interest after sequencing: 1. He did not recommend it. Before I got my genome sequenced 2. I am doing so "well" with PMR and or LGMD2A that I should be happy I am doing as well as I am. 3. There is so little information about my variant that he doesn't feel we have any strong evident to treat in any specific way. I am still looking for someone who wants to take an interest in LGMD2A variant of interest and its possible relationship to PMR.

@jfannarbor Sounds like your doc is trying to protect his own income. I spend a lot of time going through my data, looking for and finding info and support and recommendations for living with what I have. There is a pile of stuff on the 'net for me and my LGMD and other diseases. Some of the best sites are Sequencing.com, Wikipedia, NIH, OMIM.org, HPO.org (human phenotype ontology) Mayo, Johns Hopkins, Harvard, Cleveland Clinic and City of Hope (LA) You might find some interesting reading in my Yachats Syndrome, which I am including totally free and without strings of any kind. But read whatever you can get, and make your own decisions. I have multiple forms of LGMD, including r23, FKTN, FKRP, etc. oldkarl