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

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.

Hi I agree as ageing and more illnesses; I am in Ontario Canada and thankful (even tho I complain sometimes) that majority of medical is paid, plus have extended health care from when I worked; my husband's extended health care terminated when he retired but luckily my employer keeps both of us on it til I pass away; for instance paid $45 for ambulance I took couple of weeks ago paid full amount; but its the prescriptions. Mine aren't too expensive but husband has 12 a day and majority is paid either by government or my health care plan.. not sure what we would do without help paying... probably he would have to cancel some of the drugs or find alternative.
Not sure about this but I think this is why Canada doesn't want to go to a 2 tier health system where we can pay the doctors if we can afford or choose to; but think I read that all our "good" drs. would want to move to the private pay where they could make a lot more income, leavng the not so good or maybe new family doctors for those who cant pay... again, not sure if this is accurate. Am not sure if this is so in UK.
My issue now is not having a fam. dr., and using a walkin clinic... they have been very good, but then on top Covid and after having a very bad spell (3) now have to wait until August for a phone conversation with a neurologist out of town; although to be fair, the clinic did have a ct scan done on me which was normal. I was told over phone by a specialist and husband heard on speaker phone, he said that many doctors are "hiding in their homes" during covid and he said, I must admit I am too!!! So that hasn't helped waiting tiimes....I waited 11 months just to have an ENT phoned me and he didnt sound happy either and ended up telling me his problems and didnt ask about mine (true)... Heavren Help Us All !!! J.

@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 could be it,not sure, I was born in UK and came here alone in 1962 at age 18. In those days we were raised not to say "boo" to a bird!!! I was bossed round at work started when I was 16, and 9 year first marriage verbal and mental abuse.... I suppose it stays with you. I was recently yelled at over phone by ent I had waited almost a year to talk to and I didn't dare speak up. However, did write a letter a week later nicely explaining and hoping I hadnt prompted his behaviour type thing; he phoned week after after and said he was glad I wrote the letter, said I taught him a lesson and that his famiy said he does this.. but he still went on about himself! However my husband also does not often speak up for himself, but when he does, look out!!! p.s. I think we should be able to question those in authority if it involves our health and wellbeing, but it's a path I am not happy going down....in case of reprisal! J.

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?

Do yourself a favor, @change25..... take some deep, cleansing breaths, blowing out your mouth slowly. Do this several times. Allow your muscles to relax in your face and head and neck, then shoulder, and go down the muscles in your body. Do this and other relaxation, mindfulness exercises. Listen to calming, enjoyable music. Do some good things for yourself. Ck out the What's outside your picture window..... and, ck out the various groups discussions to see if there is something you might find interesting, helpful, fun. I think you've done an excellent job doing research with Connect and met some folks who can really help with your questions. But, I think you have a plan now and the best for you to do is relax a bit, change your focus from fighting for answers, to learning to deal with my body as it is. Not to say it won't get better! It may well get a lot better as you travel along this path, but it's important you us to learn to deal differently as we go into the chronic illness part of life or at least a different lifestyle.

I found a youtube video by the psychologist in charge of the Mayo Florida Pain Rehab Clinic. They work with patients to help them learn various techniques for pain control and to help get your life and mind and body in sync. They guide you to understand what part your brain plays in all the different areas of your body that are declaring war. Ck out cognitive behavior, central senstization videos from dr. Sltetten. @rwinney, another patient, attended the clinic and posted some interesting comments.

I'm not suggesting you need to attend the clinic, although it may prove helpful in the future, but more than that we all need to look for ways to improve our thinking about our illnesses, our bodies and the way we are right now. Acceptance of ourselves with these changes is very important to begin the healing process. You can't be at war with yourself and expect to be calm, at peace, in healing mode or acceptance if you're fighting all the time....I've been in the fight/flight mode most of my life, trying to make this body behave! Well, that isn't how it's done, so I've been fighting and making my body worse and certainly making my attitude and thinking less productive.

So, maybe it's time to take a step back, think quietly about these issues and move gently forward to find what right and best for you. Then, soon, you'll have the bloodwork tests back. you and your doctor will sit down and chat and you'll get his input and opinions. Then, next step, is dependent on what he says. I suggest he may well refer you to a rheumatologist as you requested, or a neurologist, depending on the test results.

If you take these days to begin to learn how to work on your thoughts and brain to improve your health, you're begiing the healing process before seeing the doctor who will work to help you heal!

Get going and change yourself for the better, begin healing and get on your way. @colleenyoung and @rwinney and @ becsbuddy, @gingerw, @sueinmn and so many others are here to help guide you to the place of dealing with your life well, of healing..... You will find answers from the upcoming bloodwork and this doctor, and from whomever he refers you to see, and from all the folks on these sites. Now you are learning how to live and heal. Blessings on this journey...elizabeth

at becky - icon not working ...thank you, have been on list for a new fam dr where I live since Sept. 2019, about 400 of us in this 54,000 small city and outskirts; even been on waiting list for nurse prac., but still waiting. The drs at walk-in clinic/phone have been good, its just I have to get copies of everything such as blood tests and such to show a doctor at emerge; or specialist, and I have papers and files all over..... had I known this would happen I would not have left my last doctor of 20 yrs but he was getting sloppy and gave me antibiotic without proper testing and i got P.N. thing is he looked it up in his big black b ook (a book!!) and said: side effects headache and nausea...whereas there were 3 pages of notes with meds from pharmacy so we had a chat and i decided to try new dr... and he left town. Thank you so much for caring. J.