Birdlady

With me and my husband, we both think he had chronic health problems for years but he could still carry on for the most part. Most of his issues were digestive. I just think as he aged, his problems became worse and more apparent. I don't actually think my husband caught POTS from me. In many ways we have completely opposite symptoms, but the main underlying issue is some sort of chronic illness like CFS, POTS etc. His POTS symptoms have been more mild lately, so I think in his case he actually had a case of the temporary POTS you get while really sick or bedbound. There was another woman on here whose husband did get a POTS diagnosis, but I don't know whatever happened. She made a post about it a while ago. You may be able to find it in search.

Spinner, Definitely sounds like you were on the verge of a full blown Addison crisis. It can be scary stuff, so I'm glad you made it into the ER ok. You can't think right or anything at all. I can't tell you what to do, so ask your doctor about what dose would have been appropriate in your situation. I learned from several failed attempts that if I got that bad, I always needed quite a lot more than I thought to pull through. We can't give medical advice, so please run this by the doc prescribing your HC.

Spinner, you are one heck of a fighter. I dont' know how you work with all of that. Bless your heart! The only suggestion or thought I have is you might have gotten a bit low in HC? I used to have to take it for years, but was healed of it. Thank you Jesus. I know whenever I needed some, I'd have this weird muscle cramp or pain in my stomach. I have no idea if that compares to what you had, but just wanted to throw that out there.

I cold called an EP that is listed on this website. I told him I had POTS and wanted a TTT. He was like...hey not so fast there. I told him if he did not want to do it, then I'd go to someone who would. I was not about to go through all of that stuff again. Before I knew it was POTS I got the run around for sure. I simply did not understand how I could have so many symptoms. I gave up for many years seeking help and then eventually after knowing it was POTS, I decided to finally go ahead and get the dx. None of the doc I've seen over the years have been especially helpful. Not even POTS docs.

SpinnyC, I seem to have pre-syncope at times even though my BP is normal. At one of my doc visits, I told the nurse to take standing vitals. I was feeling a bit lightheaded and I told her that, but when it came back as 130/80, she actually took it again because she didn't believe it. Now there are times my BP does go a bit too low and I'll have pre-syncope. When I'm feeling my worst, honestly my BP is totally normal like 115/65 or something. There's def more to it than blood pressure and heart rate numbers. That's what makes this so hard to deal with and treat.

Sue every so often, I'll have what you are describing on the top of my head. It feels like someone is moving my hair. It is the same pattern, repeated every 2-5 seconds. I don't take midodrine, so I know it's not that... I probably have SFN, but I wasn't tested for it.

Oops!! Sorry I totally missed the SSI part...I apparently cant' read very well...lol I'd still appeal.

Since you are 18, I assume you are applying under your parent's work credits? If so, then you absolutely need to appeal this and get signed on under them. I was never able to work enough to even be eligible for SSD. I would try to explain that to your parents. The longer you wait, the worse off you are going to be in the end. There may be a time when you will really need this money and you won't be able to get it and won't be able to work. Hire a lawyer and let them figure out the best way to show you really are disabled. They know what works!! Good luck!!

^This. I was going to post that my sister and I used to dye each others hair. Simply standing on my feet in a single spot is what was the issue for me. I do miss my dark cherry brown hair though.

Lauren this thread might be helpful to you. I listed the RS ID's you can check for most of the missenses. This isn't all of them though because I accidentally missed a few back then. http://forums.dinet.org/index.php?/topic/20829-possible-cause-for-pots-mutation-on-net-gene/

This is great news Sue! If you ever figure out what helps heat intolerance let me know....haha!

It depends on a lot of different factors like where it is on the gene, has it been studied much and there's honestly a lot we just don't know. Typically most damaging mutations are autosomal recessive. That means you need two "bad" copies in order for it to be a problem. There are exceptions to this and those are called autosomal dominant mutations. An example of that would be the A457P NET mutation. The single bad copy actually destroys the good copy of protein in those people. This PDF might help to just give an overview of things. It talks about this type of stuff. http://www.genetics.edu.au/Information/Genetics-Fact-Sheets/Changes-that-make-a-gene-faulty-FS5 Typically heterozygous results (that's having 1 "good" and 1 "bad" allele), doesn't affect the gene in such a way that you would have problems. Since you have one working copy, it's usually fine especially in SNPs with a very high occurrence in the population. Many heterozygous results are synonymous. Anything over 20% in the population and I don't even think it's worth discussing unless we find more data to prove otherwise. This is where more research needs to be done on specific SNPs and genes. You may find a rare SNP in your data and it may mean nothing at all. My dad and I have about 120 discordant SNP's in our data. Those are the types of things that can be interesting to look it. It can suggest there are microdeletions in your DNA. Even these are common and probably don't cause problems. haha Our DNA is very resilient in a lot of ways and yet at the same time very fragile too. It makes me wonder about that family with the A457P mutation. How did that one start? Probably a 1 in a million de novo mutation which has now been passed down the family. It would make me think twice about having kids.

T283M is a novel missense found in that study, so an RS number has not been assigned. This study alone is why I think Vanderbilt needs to jump off the A457P wagon and start looking at these other missenses on the NET gene. Figuring out the "bad" allele can be tricky at times. You won't really know if an allele change is significant unless it is tested in a study. Typically though if you are looking at a disease causing allele it will be the less common one in the population. The Minor allele frequency (MAF) will be a low number. On this page it tells you which allele causes the change in protein. It's only easy if it's a missense though. This is the T283R missense from that study, but it is not tested on 23andme. http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=rs45564432 This website shows all of the missenses on the NET gene. When I was doing research this site was amazing. If you click on the variant link next to each, it will show you the RS number at the top (if there is one assigned). http://snpeffect.switchlab.org/sequences?Disease_op=contains&DisFilter=&MutationType_1=&UniProtID=&GeneName=SLC6A2&dbSNP=&items_per_page=30&group_DIF_TANGO=All&group_DIF_WALTZ=All&group_DIF_LIMBO=All&group_Dif_Stability=All Here's a link to all of the RSID assigned SNP's on the NET gene. http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?showRare=on&chooseRs=all&go=Go&locusId=6530 Things in green are synonymous. Yellow are introns. Red are in important parts of the gene. It's hard to explain how to figure out the risk allele in most cases. You kind of just have to play around with it, learn what the different words mean. Wild type, Synonymous, Non-synonymous, missense, frameshift, polymorphism vs mutation etc It will help to get a feel for it. Just because there is an allele change doesn't mean it changes the function of that protein or that it is a bad thing. Some allele changes causes people to have blue eyes instead of brown etc. Others make you have a different blood type and there isn't a good or bad blood type, so it's good to keep things in mind like that. I was hoping someone else would take the baton in this area once I disappeared from researching

In this study from 2009, it showed another mutation on NET T283M was seen to cause higher heart rates upon standing. This study also talks about the mutation I have V245I, which affects both NET and DAT. Looks like it affects DAT to a higher degree. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2801604/ "We have previously identified and characterized a NET mutation, A457P, that associates with a familial form of orthostatic intolerance, characterized by an abnormally elevated and sustained heart rate displayed upon standing (Hahn et al., 2003; Shannon et al., 2000). In order to assess the influence of T283M on tachycardia, we collected supine and standing heart rates following five minutes of standing in a subset of our samples in the Vanderbilt group. Group mean heart rates for supine, standing, and change upon standing were 84.3+15.4, 94.4+18.0 and 10.1+16.4 bpm, respectively (Fig. 2). The T283M proband demonstrated an increase in heart rate upon standing of 49 bpm (Fig. 2). This change in heart rate was the highest of all subjects and was greater than two standard deviations from the mean. We also administered autonomic function tests to the mother of the proband. We measured heart rate and plasma norepinephrine levels following 30 minutes of upright posture. In adults, the diagnostic criteria for orthostatic intolerance used at Vanderbilt are a standing heart rate change of greater than 30 bpm and a plasma NE level of greater than 600 pg/ml. The heart rate of the mother increased 26 bpm, whereas her plasma NE levels were elevated to 595 pg/ml, very close to the cutoff for orthostatic intolerance diagnosis."

My doctor was not interested (out of his league more like it) and I never heard back from Vanderbilt on it at all. I kind of just gave up after that... lol The lead on this paper Maureen is who I emailed.

Hmm. I think Vanderbilt needs to move away from this single mutation and run with a larger theory that would include more of us like an epigenetic concept. Only 1 or 2 families in the world have this mutation, so I don't really understand why they keep beating a dead horse. We already know about this one. Does anyone else feel that way? There are 16 missenses on the NET gene. The lead researcher on this paper has done a few for ADHD in the past, which did show some disruption in transport. But for whatever reason they are SOO focused on the A457P mutation. It's useless and nothing new...

Tanzanite (i love that name! My husband and I both were salespeople at jewelry stores in another life, so I have an appreciation for gems!) Maybe I missed that post or I wasn't around here yet. I haven't taken any PE for a week if not longer, but my sinus issues are coming back, so perhaps I will. I took a beta blocker earlier today, so it seems so counter intuitive to then take PE on top of this, but then again taking PE seems odd in the first place. haha! Rama, How did your latest trial go?

My first TTT was done while being hooked up to Saline IV for about 30 mins or so. It made no difference in my symptoms, heart rate or anything. I know I'm a weird one here with this, but that is my experience with saline. If it gives that much relief, then consider me jealous!!

I have taken this test a few times. Those who haven't done it, this is the one with a lot of questions you have to answer. http://www.humanmetrics.com/cgi-win/JTypes2.asp If I'm feeling better and able to get out more, I am a ENFJ. When I'm more sick and not able to socialize, I become a INFJ. I don't think it's about sickness inflicting the same personality types, I think the sickness is changing our personalities. Edit: I just took it again and I'm showing as ENFJ.

I have not thought about the longer acting one. I'll have to see. In the US I Have to sign my life away when I buy PE. They take your ID number and everything. I finally got rid of this sinus infection with a zpack, so I am ecstatic right now....lol I'll have to see how I do on PE when I don't have massive amounts of congestion in my nose. I wonder if it will make me feel any different.

I have no idea...Do you know which test would show that?

Very interesting! I have a few questions if you don't mind... How long did you have the scotoma? Where was it in your vision? How long after taking B12 did it go away? I assume they saw absolutely nothing on your exams. Did they do any other scans? Unfortunately I have been eating B12 tabs and I gave myself an injection to see if it would make any difference and it hasn't. Maybe I'll do my last injection today just to be sure. I have had issues with B12 in the past so that was one of my first thoughts. It never caused vision loss for me though. I'm following about 4-5 other people who have this acute presentation of a scotoma and we have been bouncing ideas back to each other. The other woman has had it for a few weeks longer than me. One lady has had it for 8 years I think. Both of them actually report POTS like symptoms, but are not diagnosed.

I agree I have no intentions of taking this every day. It is definitely an interesting find. Yesterday when I took it, I noticed my appetite was weaker than usual. This whole experience is such a weird thing to stumble upon, but I have no idea what this means or where this leads me...haha

Phew I'm glad you did ok on it Rama. I didn't want to hear you had some horrific experience. Yes it does not last very long. 2 hours sounds about right to me. I did end up taking some yesterday and I think it aggravates my eye problems. I finally gave in and am now taking antibiotic for my sinuses. I'm becoming addicted to the phenylephrine sinus spray! It's not good at all. I have no idea if this makes any sense with NET deficiency...I was trying to figure that out too. Most people on here do absolutely horrible on these kinds of drugs. Someone just made a post about a nasal spray making them awful and here I think they make me feel great. What makes us different? haha

Here's a few links if you are interested. You may have already come across them though. I'm actually surprised more people with POTS don't have this. I can't imagine having vision loss near the center vision would go unnoticed in most people. But who knows! haha http://journals.lww.com/retinalcases/Abstract/2013/00720/ACUTE_MACULAR_NEURORETINOPATHY_ASSOCIATED_WITH_THE.9.aspx http://www.ncbi.nlm.nih.gov/pubmed/1841003 http://www.ncbi.nlm.nih.gov/pubmed/2629043?dopt=Abstract&holding=npg http://www.ncbi.nlm.nih.gov/pubmed/3428103?dopt=Abstract&holding=npg Good luck with your pseudo journey. I may have to take some today because my sinuses are a mess.