lthomas521

EDS is hereditary. Does anyone else in your family have it? Your relatives might have a milder form, or you could be the "lucky" person in whom the mutation started.

Hi Linda: I was relieved to see that you are only 24 years old. You have plenty of time! Did the doctor figure out why you aren't having periods? There are several possibilities. Since you have had at least one period in the past, that rules out a lot of the rare conditions. The most likely explanation in someone your age is polycystic ovary syndrome (PCOS, also known as Stein Leventhal syndrome). In women with PCOS, the egg-containing follicles within the ovary stop their development at some point before ovulation, so you can see all sorts of little cysts in the ovaries when you look at them by ultrasonography. PCOS interferes with fertility, because the women with the syndrome ovulate only a few times per year, if at all. No one really understands PCOS, but it is associated with excessively high levels of insulin and male hormones. Women with PCOS tend to be overweight and have excessive facial hair. There are several approaches to treating infertility in women with PCOS. Some studies have shown good results with weight loss and use of metformin for control of blood sugar. Women with PCOS can also use follicle-stimulating hormone to induce ovulation. Even if you don't want to become pregnant right away, the doctor should really figure out why you aren't having periods. If you have PCOS, that means that you are probably at higher risk for blood lipid problems, diabetes, and heart disease in the future. If you are overweight and/or your blood sugar and blood lipids are high, you might want to ask for a referral to a nutritionist. The dietary interventions can make a huge difference, but doctors tend to have little confidence that their patients will actually adhere to them. They might also tell you to exercise, but I would be very cautious about following that advice. A woman in her early 20s should not be having unstable vital signs. If she does, then the problem is definitely more than just inactivity. Exercise probably won't fix the problem and overexertion could make it worse. Best of luck.

Whether you can work with POTS depends on two things: (1) how sick you are, and (2) what kind of work you do. I was able to work even while I was pretty desperately sick, but I do a completely "sit-down" kind of job. If I had a job that involved standing up or (worse yet) bending over and standing up, I wouldn't have been able to work. Housework was pretty much out of the question. The other thing in my favor was that I had developed really disciplined work habits when I was reasonably healthy, so there are a lot of work-related tasks that I can do more or less on autopilot. The problem was that my job took up all my energy, so all I did was work and sleep. I had no real life. If I could have worked only part-time, that would have improved my quality of life immeasurably. POTS can be seriously disabling. I don't expect that someone with a bad case of it would be able to hold anything other than a desk job, if that. I believe that a really sick person shouldn't even be trying to work for pay, especially if doing so would endanger his or her health further. That's why we have disability insurance.

My MRI showed more cortical atrophy than I'm supposed to have at my age. My internist was disturbed when he saw that, because I was complaining about how spaced out I was. However, I was only spaced out because I'd stopped my thiamine supplementation for a few days so that he could run some tests. I was fine after a day or so back on thiamine. I told him that I wasn't surprised about the cortical atrophy. You can't keep cutting off the circulation to someone's brain over and over again on a daily basis for years without there being some consequence. I still regret that my commitment to nonviolence precluded me from slapping the moron endocrinologist who told me that I was "catastrophizing" by imagining that my severe orthostatic hypotension (on the order of 48/48 mm Hg on a bad day) might be causing brain damage. Maybe, if my circulatory problems don't improve, my brain will ultimately shrink until it is as small, and as unconvoluted, as his. MRI's are useful for finding structural problems (e.g., tumors and cysts) and damage resulting from inflammation, etc. However, if your problem is purely chemical (e.g., no norepinephrine reuptake), it wouldn't show up on an MRI.

Every week, I check the New England Journal of Medicine to see if the article has come out yet. Maybe Ramakentesh will give us a heads-up when the article is accepted for publication. In the meantime, here are some other, related articles: Mandela P, Ordway GA. The norepinephrine transporter and its regulation. J Neurochem. 2006 Mar 15; Shannon JR, Flattem NL, Jordan J, Jacob G, Black BK, Biaggioni I, Blakely RD, Robertson D. Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency. N Engl J Med. 2000 Feb 24;342(8):541-9. The Shannon article discusses the identical twins with the loss of function mutation in the norepinephrine transporter. They had POTS and the norepinephrine spillover because they had norepinephrine transporters that didn't work properly. From what Ramakentesh has told us, the folks at the Baker Institute theorized that some of the rest of us have a normal NET gene but no expression of the gene. She explained that they used several different independent methods to document the abnormal expression. Very encouraging. It makes sense that people with POTS would have less anxiety than normal people. A friend of mine is a psychiatrist who works in antidepressant research. When I told him about the norepinephrine transporter theory of POTS, he said, "How can you live like that?!" I said, "Not well, obviously." He said, "It would be as if you are on a huge dose of antidepressant." I said, "Well, then it's no wonder I'm so stable emotionally!"

Hi Roselover: Sorry to hear that your bp is so low. The really bad thing is that your pulse pressure is so low. You have to have more than around 10 or 15 mm Hg difference between the systolic and diastolic pressure in order to get blood to your brain. What you are describing is what my nephrologist called "decapitation" (i.e., the blood supply to the brain is essentially being cut off). Has your blood volume been measured? There are highly accurate ways of measuring blood volume now. If oral fluid loading and Florinef, etc. is not doing the job, you might ask for some transfusions of albumin or some other colloid. A colloid will stay in your vasculature longer. There's at least one woman with POTS who is doing much better after she started albumin infusions. I haven't had the problems with pressure that low since I started taking the huge doses of B vitamins. I started to feel better within a day after starting the thiamine (500 mg/day). If your red blood cell mass is low, you will probably need to take extra B vitamins and iron in order to make more blood, even if you start taking Epogen. You might ask about trying the B vitamins and iron before you start Epogen. Best of luck.

They're probably not looking for cancer. There are some rare tumors that secrete catecholamines, but only about 10% of them are malignant. One theory of POTS is that it is due to abnormal norepinephrine reuptake. Nerve cells in the autonomic nervous system secrete norepinephrine into the synapse (the gap between one nerve cell and the next) in order to send a message to a neighboring cell. Then, the norepinephrine is usually picked up by a special protein (called a norepinephrine transporter) on the surface of the nerve cell and brought back inside the nerve cell. If you don't have normal norepinephrine reuptake going on, then the norepinephrine "spills over" from the synapses and into your bloodstream. So you will have high catecholamine levels when you stand up. (Norepinephrine, also called noradrenaline, is a catecholamine.) There are several reasons why norepinephrine reuptake might be subnormal. Some drugs (notably some antidepressants) block the norepinephrine transporter, which is evidently why they have orthostatic hypotension as a side effect. Also, a few people have been born with a mutation in the gene that carries the recipe for the norepinephrine transporter. Lately, researchers in Australia have been pursuing the theory that lots of people with POTS have a normal NET gene, but the gene is switched off, so it is not making norepinephrine transporters. Genes get switched on and off for various reasons, which is why different types of cells look and behave differently, even though all of your cells have the same DNA. Now if we can only figure out why our NET genes have been switched off!

If you think that the dead flu viruses in a flu shot pose a problem, imagine what the live flu viruses wildly reproducing themselves in your body can do to you if you don't have the antibodies against them. Flu is so common and so easily spread that you will probably be exposed to it if there is a bad outbreak. There are two main reasons to get a vaccination: (1) to protect yourself from a disease (2) to protect other people whom you might otherwise infect. The woman who cuts my hair gets a flu shot every year because many of her clients are elderly or have health problems. She doesn't want to miss work from being sick, and she doesn't want to make her clients sick, either--especially because a bad case of flu could be lethal to them. There is one major reason not to get a flu vaccination: if you are allergic to eggs. The flu viruses that go into making the vaccine are grown in fertilized chicken eggs. I get a flu shot every year, unless there is a serious shortage of flu vaccine.

I have gone through those stages of grief numerous times, almost always during the course of a single doctor's appointment: Denial I can't believe that this idiot can't figure out what's wrong with me and doesn't even believe that I'm sick. Anger Plus, the idiot is rude! Bargaining Doctor, could you please measure my blood volume, or at least put me on a tilt table, or even just take my pulse while I'm standing up? Pretty please? Sadness/Depression I came all this way/paid all this money/waited so long for an appointment, etc., all for nothing? What a bummer! Acceptance Okay, so this one's an idiot. But the law of averages suggests that the next one I see won't be quite this stupid. Fortunately, I have smart doctors now, so I haven't had any grief lately.

The tryptophan product that was contaminated was produced by genetically engineered bacteria. Unfortunately, the bacteria were also producing an amino acid that no one had ever observed before and that proved to be toxic. When journalists "pooh-pooh" food activists who question the safety of genetically modified foods, they conveniently forget this story. Down the memory hole it goes. http://www.i-sis.org.uk/tryptophan.php Also unfortunately, all tryptophan products were taken off the market, even though it was only the GMO-produced product that was a problem. I've worked for a pharmaceutical company that makes a recombinant drug, but that drug went through all sorts of chemical analysis, safety testing, and postmarketing surveillance. I wouldn't worry about using a genetically engineered drug, but I wonder about the safety of some of the genetically engineered foods, which haven't undergone anywhere near as much testing.

Hi Laura: You had it together enough that there actually were baskets and eggs, etc. You probably even had a fresh videotape and charged-up batteries for the video camera. That's very high functioning for someone with POTS. I recommend taking pride in that accomplishment, rather than feeling guilty for getting sick. The only possible thing that you could reasonably feel guilty about is if you KNOWINGLY went beyond your limits. But it doesn't sound as if you did. It sounds as if you were probably running on empty by Easter morning. I'll bet that the bending over and standing up involved in hiding the eggs probably did you in. At my house, we call that the "Japanese drinking bird maneuver." (http://www.sciencekit.com/category.asp_Q_c_E_755940) I find that it is particularly important to avoid extreme orthostatic stress like that when your condition is already marginal from being overly tired or emotionally stressed. My spouse has learned not to let me do stuff like that, and to reel me in when I'm overextending myself.

I haven't fainted for years, but when I did, I didn't actually lose consciousness. I couldn't see, and I lost muscle tone and fell down, but I was still aware of what was happening.

Interesting. Also, people with mitochondrial disorders may benefit from B vitamin supplementation even if they don't actually have a deficiency.

If you POTS is really bad, forget singing until your POTS is under control. The increased pressure in your chest interferes with venous return to the heart and thus with the flow of blood to your brain. This is very bad for you, as you can probably tell by the fact that it makes you feel wretched. If you insist on singing, do so sitting down. If you sing while standing, the orthostatic stress along with the Valsalva maneuver is a double-whammy, and you risk fainting and falling down and hurting yourself. Even if they don't find a cure for POTS, you may be able to improve well enough with conservative measures and Florinef and so on that you can resume singing. When I was at my sickest, I filled in as rehearsal piano player for a community theater production of The Mikado. If I tried to play two days in a row, I got struck down by a serious migraine. A person has to know her limitations.

Drugs with anticholinergic effects can make it difficult for you to pee. Don't forget to ask the pharmacist whether any of the drugs you are taking could be contributing to the problem.

Here's a wikipedia article about minocycline: http://en.wikipedia.org/wiki/Minocycline It says that the side effects may include dizziness. (How would any of us notice that? ) I also saw some Web sites about the use of minocycline in the treatment of ALS. Very encouraging. What dosage are you using, dianaD? Have you made any other changes that could account for your feeling better? Please keep us posted on your progress.

How do I keep a positive attitude? Denial, generally.

Yasmin contains drospirenone, which has diuretic properties. Probably a really really really bad idea for someone with POTS. It is contraindicated in people with kidney or adrenal problems. Lupron is a synthetic imitation of gonadotropin-releasing hormone (GnRH). Normally, the hypothalamus (part of the brain) secretes GnRH in bursts, about 90 minutes apart, into the vein that runs from the hypothalamus to the pituitary. The GnRH then causes the pituitary to secrete follicle-stimulating hormone (FSH) and luteinizing hormone (LH). In women, these two hormones cause your ovaries to produce eggs and secrete hormones, including estrogen. In men, they cause the testes to produce sperm and sex hormones. However, if your pituitary gets a steady exposure to a GnRH agonist, it initially secretes a lot of FSH and LH but then stops listening to the GnRH and dramatically reduces the FSH and LH secretion. Your menstrual cycle stops, and you stop secreting sex hormones. You get menopausal symptoms from the estrogen withdrawal. Lupron is generally used to stop sex hormone secretion in people with sex-hormone dependent cancer (e.g., some women with breast cancer and men with prostate cancer). It is sometimes used to treat endometriosis. It is also used to control the LH secretion and thus prevent premature ovulation in women who are getting FSH-containing drugs to make them produce lots of extra eggs for in vitro fertilization. If you just want to make your periods less horrible, a regular hormonal birth control method (pills or the vaginal ring) is worth asking about. If you just want to skip periods, the doctor might suggest a continuous regimen of regular hormonal contraceptive.

Lopressor (metoprolol) is a beta blocker. It's the same active agent as in Toprol-XL. The purpose of the beta blocker in the management of POTS is to slow down the racing heartbeat. A pacemaker could also slow down your heartbeat. But before you can make an informed decision about what to do, you need a lot more information. Do you have POTS, or do you have something else? The three most important steps in managing any illness are diagnosis, diagnosis, and diagnosis. Have you had a tilt-table test? If you do have POTS, have you tried all of the "conservative" (i.e., nonprescription) measures first? Salt and water loading, pressure stockings, vitamin supplements, etc.? They help enormously. Have you tried fludrocortisone and midodrine (which are prescription drugs)? These things are far cheaper and less of a hassle than a pacemaker. Plus, a pacemaker has to be implanted surgically. Ouch! My doctors have been of the opinion that my fast heartbeat is physiologic--that my heart is compensating for hypovolemia and beating really fast to keep adequate amounts of blood going to my brain. If we expand my blood volume enough, the heart will slow down on its own--without starving my brain of oxygen. I've known people who have gotten a lot of benefit from pacemakers, but they didn't have POTS. I don't know of anyone with POTS who has gotten benefit from a pacemaker. I guess it all comes down to what your diagnosis is. Best of luck

A cold that won't go away? Could be hayfever, on top of other things. It's tree pollen time in the US. www.pollen.com Allergies hit POTS patients especially hard. As soon as juniper pollen shows up in the pollen counts, I get severe tachycardia. Sometimes without even a sniffle. Ask the doc (and the pharmacist) if you can take some antihistamine.

It's tree pollen season. Could be allergies on top of everything else. Check out www.pollen.com

A while back, someone from Morocco asked about Florinef and other possible alternatives. Recently, I asked an Arabic-speaking coworker how to say "licorice" in Arabic. He said that "soos" is a licorice tea that people commonly use to break their fast during Ramadan. Kind of makes sense, doesn't it? So, if anyone from the Muslim world is having trouble with POTS, we can tell them about soos.

Do they have a Flat-D with sound-deadening qualities? If you are wearing waist-high pressure stockings, it is difficult to "sneak one out" noiselessly. By the way, anyone with serious gallbladder problems or intestinal problems should probably be tested for celiac disease.

Helpful hint: Before you go in for an evaluation, stop whatever conservative measures that you are using to try to counteract your symptoms. For example, I stopped salt and water loading and ate and drank like a normal person for a couple of days before I went in to get evaluated at Mt. Sinai. I took my pressure stockings off before I got on the tilt table. So my results were very abnormal at my baseline assessment. If you go in loaded to the gills with saltwater and licorice tea and wearing pressure stockings, you might look deceptively normal. Ask your regular doctor if you can go off your prescription medications (e.g., beta blocker) before you go in for an assessment at a referral center. The doctors there need to see how abnormal you are, not how well you are doing under your current regimen.

The other really good thing about V-8, and tomato products in general, is that you can put huge amounts of sodium in them without it tasting too bad. You can also hide large amounts of salt in mashed potatoes. However, mashed potatoes have a high glycemic load, which is bad if you have poor glucose tolerance.