At a loss, multiple consultations still no answer...any idea?

Thank you so much if anything comes out of this I hope I can help just one other person I’ve been fighting for myself my whole life I’m not gonna give up but I do admit that it’s getting harder and harder if you need help with an expression or something to say to somebody I’m your girl, I’m so logical and can explain myself so good sometimes It scares me. A lot of my doctors have done what I’ve told them to do. Tell me that’s not scary

Thank you! I bookmarked the website. I’ll check it out. I signed up for the All of Us Research Program - https://www.joinallofus.org/. You can get a DNA analysis. The closest to me currently is Boston, so I’ve not done it yet. They said they’re expanding their partners through. It’s free and they share the results.

@change25 I don’t know about the States, but in Canada a primary physician has to order some tests based on your symptoms, before sending a referral to a specific specialist. The results of the tests gives your physician a better idea as to which specialist you need to see. The referral to the specialist is accompanied by these test results and a brief note on your medical history.

@athenalee I guess only US residents are eligible to join ...?

I’m not sure, but it is US government funded. However, I believe the researchers through the program are from around the world. I’d recommend contacting them, they are very responsive.

Life is going to get even harder when you are at the age where Medicare almost forces you to use a dr who participates. First of all,very few in the profession are willing to acept the Medicare approcved amount. Second, if you have to travel 5o miles in order to get to a dr who participates you may not want to go to a Medicare dr at all. Third, your choice of doctors is very limited,so finding a "good" one may not even be possible. If you are well off you may not be a captive of the system because you can visit a non participating dr and pay full price. Thank the federal government for creating a system that takes the monthly fee for Medicare out of the pocket of old folks who may not be able to bebefit from it.

@change25 Just been looking at the photos, and I have some comments. You may not have the same diseases, GSN and FKTN, with RyR2. But the same symptoms.
*Pulsating headache, difficulty focusing. #Me, too. Especially behind the forehead, in Brodmann 24 and 9 brain areas. My experience? Gelsolin
*Weak eyes where they feel droopy along with being dry and painful. # Me, too. Same. Upper Eyelids now sagging down to where they are beginning to comer the pupils.
*Dry and sore mouth. #Me, too. Sjogrens, with Gelsolin. Use a good night-time mouth and throat moisturizer.
*cheek and jaw pain. #Me, too. Gelsolin, probably also the FKTN. GSN gets into joints and into teeth. The teeth become brittle and crack easily, often with no other cause known. Even brushing hard, or going from cold to hot or hot to cold rapidly. Then they crack, and eventually rot easily. Make sure you are good friends with your dentist and technician. Same problem with finder and toe nail. Splitting long-ways, right in the center. Toe nails also very brittle, break off easily. And bones. Broke one toe putting on socks.
*Changes in pigmentation, face appears gaunt. #Red Cheeks, on cheek bones just below eyes, with swelling. Swelling like half-egg shape and size just below ends of mouth. Very hard on skin. Anything that disturbs the skin will show for years. Mayo techs at Phx took five blood samples along one vein in the summer of 2016. Those five 3/16 inch gray dots are still easily visible on my arm, just below the elbow. Both lower legs have 10 inch bands of dark gray to purple or black, halfway between ankle and knee.
*Back pain. #Me too. With me, Ankylosing Spondilitis and Spinal Stenosis. Much facial pain. Gelsolin is very hard on the face with cutis laxa, sagging skin, even to the point of the eyebrows sagging down to rest on the upper eyelids. The Red below the eyes is tiny blood vessels breaking / inflamed just below the skin. Worst pain is in the Limb Girdle areas. Hips, thighs, upper arms, shoulders. And feet and hands.
*Odd tingling sensation present in hands and feet. #Me, too. Distal Polyneuropathy. It is not a skin issue, but nerve and liquids. Use 1/4 tspn turmeric powder in 1/2 cup of warm water. Actually, the DP shows up anywhere. Hands, face, feet, thighs, neck spine.
*cold hands along with an odd rash present on hands and knuckles, which is a deep purple. #All over my hands and face. From red to gray to black. I Use Gold Bond Psoriasis Creme with Aspirin each night and Noxema Cream each morning. Occasionally I use Clobetasol, or Dovonex or other. Spread it on thick and rub it in. Then I always wear a warm stocking cap (day and night, often with gloves) to keep the scalp, face and hands warm. I also have a heavy paste dandruff, which I can only clean with Pine Tar Soap. I use Grandpa's Tar Soap from Cincinnati area.

Many Cardiomyopathy Genes and syndromes. Now over 40 cardiac procedures, including caths and stents, 2x bypass, etc. Maybe there are some ideas here you can use for relief.

@lacy2 I think it’s a Canadian thing - I too have trouble speaking up. lol. But in my case, I’m dealt a double whammy because I also come from a cultural background where I was raised not to question those “in authority”.

That's great, thanks Karl. I hope you've managed to find some relief as that's a lot of symptoms to manage. Yeah, I'm clueless as to what I'm dealing with. I've definitely noticed my teeth becoming more fragile, I've got a large cavity that needs sorting asap. I'm trying not to pin my hopes on these bloods, as many have stated the difficulty of identifying the condition.

Hi @lacy2 it’s Becky again. You mention not having a doctor and needing to rely on a walk in clinic. Have you looked around for a new primary care doctor? He/she is the ‘gatekeeper’ for medical care
Will you find one and make an appointment?