Update
 

Hi everyone,

Just wanted to post an update on my neuropathy. Still no clear indication of cause but a few things have developed. I've had to see a cardiologist -with regards to my heart symptoms and other horrible things. The description of my symptoms has led him to suggest I may have POTS. I definitely have autonomic dysfunction as these symptoms are overwhelming. I'm having a number of cardio tests- insurance aren't keen so requested further info before they will cover these.
When I saw the cardio guy and explained my whole history he then asked if I was flexible. I have great flexibility in my spine even with arthritis in it. I didn't realise alot of people can't easily touch the floor with straight legs. He then mentioned Ehlers Danlos Syndrome and hypermobility. Apparently a significant number of people with POTS are hypermobile. I'm not entirely sure about EDS as the cause but I know it can be behind numerous health issues including sfn. Not particularly happy about this as a diagnosis if it is that but I'm imagining worse neurological conditions than this so maybe best of a bad bunch, I don't know.

I went ahead with the muscle biopsy. The pain was not bad at all, I was virtually hyperventilating going in but it really was nothing. Awaiting results. I would not be at all surprised if it comes back clear,but also don't want to hear something awful.
Weakness and twitching is significant right now, I have to lie down and rest so much. I have to pace in order to make sure my son and I are looked after properly.

I really want a diagnosis for this as it is frightening me alot. Do any of you think it's worth pursuing a Spinal tap if biopsy shows nothing? I am seeing my rheumatologist in July and am going to beg for the lip biopsy - even just to help rule out sjogrens.

I also have developed horrid facial pain and pressure which has been so overwhelming when it comes on that I couldn't even talk through it.

Eating has been hard at times with stomach issues. Really enjoying special meal replacement drinks though so that's a positive.

Feeling so angry and cheated about all this right now. I am sick of watching people who are twice my age with better health and what this good health allows - comfort, financial security, relationships, not feeling afraid every minute of the day,not worrying whether you will raise your child to adult hood. This has impacted every part of my life, so upset about it all.

Hi Joanna, I know what you are going through. That is all I can say. This is all so difficult :hug: I posted my update as well.

Hi Joanna,

Yes, it is so difficult to have chronic conditions, life changing, and sometimes beyond current medical science to diagnose/treat.

The constant tests and questions are exhausting in themselves. Be sure to keep a record of your daily health (I do this first thing in the morning, with a reference to yesterday, of course). It often helps to take someone with you to medical appointments, as well.

I highly suggest How to Be Sick, by Toni Bernhard, a successful attorney and law school professor who was laid low by a mysterious virus that never left her body. It is really a prescription for living with disability.

Keep us all posted on your journey.

Hugs, ElaineD

Hey Joanna :)
 

I have SFN but never had the spinal tap so I can't give you an opinion on that. I had to chase my own dx and finally got it with a skin punch biopsy. I guess if that had not been positive I might have done the spinal tap.

I've had this going on 4 years.....I still can't get the 'pacing myself' together. When I feel halfway decent I want to do so much around the house....forget about going out.....I'm home 99% of the time. Frustrating and depressing that my life has turned out like this. I'm only 54 and without the help of my grown children and grandkids I have no idea where I would be.

I too get upset seeing what other people are able to do. I try not to but it's really hard sometimes. I try to pull myself up by my bootstraps but it's not always easy to do.

Can I ask how old your son is ? God love your heart, I don't have all the symptoms you have but I know you are a strong woman trying to raise that son of yours !

But......we do wake up everyday and get to see the sun shining in. That has to mean something :)
We've got to support each other through the good and the bad.

We're here.....such good people on here always ready to reach out with the right words to help me.

Keep us posted on your results of the muscle biopsy.

Debi from Georgia

Hi Healthgirl, I've just read all your update posts. Yes it seems our situations are very similar. Thank you for posting x

Thanks Elaine, I saw that book on my audible recommendation list. If you think it's worth a try I will definitely look to get it. I think you are right in that some level of acceptance is really important and this book title is kind of doing that. I've felt such hope in searching for treatments a d therefore the correct diagnosis. More recently I have realised I have to accept more as the roads virtually at a dead end. Thanks Elaine x

Hi Debi, yes I'm exactly the same with the pacing thing. I just want to do everything round the house I've been needing to do! Then you can suffer can't you, it's frustrating.
My son is only 4 and full of beans. Luckily his father is very involved and we have a very good friendly relationship despite being apart. I'm lucky in that respect as I can rest and take care of me without worrying about anyone when he is having fun with his dad. I really do try look on the bright side for the most part. I think chronic pain and exhaustion can make you feel so down that it's a fight to stay positive. I always always stay bright and cheery for my son as my worst fear is dragging him down.

I feel less alone knowing I'm not the only one not going out really living a normal life but it's sad to hear that too Debi. I'm glad you have the support of family. It can be really difficult to keep going sometimes and having others need you around can be the thing to keep on going.

I've had the skin biopsy, sfn is without question. I wondered whether the Spinal tap might rule possible causes out. Im being investigated for EDS but that's not certain yet.

Thanks again for your lovely message Debi :-) x

So glad you went ahead with the muscle biopsy. No matter the results, at least you'll know where you stand in this regard. Please update us when you get results.

The cardio tests for POTS is important. there are many treatment options for POTS, so again, good you have this coming up...as you are in need of some relief for your symptoms. Can you describe what is going on (cardio)? Do you have drops in BP upon standing? Did the cardio do any orthostatic testing (BP while laying down, sitting up and standing)? What about heart rate...any increases (racing with exertion)? And what about the opposite...slow heart rate?

Did they give you any idea of what tests they will be running...like tilt table, 24 hour BP monitor, holter monitor, etc?

Sorry for all the questions...just trying to get an idea of what you're dealing with, so I can offer suggestions. I have numerous (and severe) autonomic dysfunction and have learned over last 20 years how to deal with many of the symptoms.

Hi en bloc, thank you for all the info you have given me ref muscle biopsy, it did encourage me to go ahead. I fear I've made a mistake in that my tricep was biopsied. My legs are significantly worse but as I have developed strong weakness in the arms the surgeon said let's just go there. My symptoms are systemic so hopefully this isn't a bad choice. I was so worried about the pain and my leg pain is worse that I just went along with it. Will see what the results say.

Suggested cardiologist tests are tilt table, ecg, 7 day holter, cardiopulmonary exercise test. Think that's all. I can't tell what my hearts doing but it feels horrible. It's more than palpitations. I often feel it has missed beats and can feel electrical impulses almost setting it totally out of rhythm. Sometimes it's so severe I will jolt upright in fright and take a huge breath. My breathing pattern changes and I feel I cannot get oxygen in sometimes. This can keep me sat up awake all night. I get severe adrenaline rushes randomly which initiate feelings of overwhelming fear and impending death. It was so bad once I was sat with a relative begging to go to hospital and crying last week, I feel quite embarrassed about it all but it felt like I was dying literally. I laid down and focused on breathing and it calmed then. I don't know if my blood pressure is shifting on standing. It's always quite low and didn't seem to vary too much. I get chest pains and tightness and sometimes I can't lie down or on my side as I feel my heart can't cope in that position. It feels like my heart is struggling and not getting enough oxygen in. I worry that it's more than POTS to be honest. The cardiologist guy was at least fantastic in that he said docs underestimate how severe the symptoms can feel for those suffering autonomic issues. I really do hope for some meds to help this. I feel that my heart does actually go from beating way too fast to beating way too slow. I can't always tell what's going on. But I'm sure it alternates between the two.
My worst attacks which go on all night are if I do too much exercise like walking all day or if I ran somewhere. That would set things off for about 24 hours. Eating can also set things off. If I ate a lot in one go for example.

Because I am having fasciculations everywhere, even my neck, I fear this is what's happening to my heart,this is after all a muscle and all muscles are affected by something going on in my body. Sometimes when I'm twitching everywhere my heart jumps and jolts me upright. I try hard to just accept and not get frightened when it happens.

There are two horrid life limiting diseases that I think about and I want to know for sure I don't have them so I really hope I get some answers soon.

Thanks en bloc, it's great to hear you have managed autonomic issues for so long. Not that I'd wish that on anyone x

I completely understand that your heart FEELS like it is in bad shape...but I'd be willing to bet that it really is just POTS and other aspects of autonomic dysfunction. Most of the autonomic symptoms come from the heart...whether it be BP related, racing heart rates, slow heart rate, or cardiac vasospasms. These few things that can go wrong WILL have a huge impact on how you feel. Literally, you are lacking in oxygen (as you said) when your BP drops...because not enough blood is getting to your brain. This will make you feel lightheaded, dizzy, and can even make you pass out. it can also cause chest pain (even in the center of your back). The racing heart rate will feel like palpitations gone crazy...as it is not uncommon for those with POTS to have a heart rate over 200 at times. Slow heart rates are just as problematic as fast rates...just in a different way. You may feel run down, without energy, and also lightheaded. And lastly (but NOT least), the cardiac vasospasms feel just like a heart attack...because it literally can cut off blood supply when a large artery clamps shut in a spasm. this can last from a few seconds, up to a minute. It is an unbelievable feeling as the spasms can (and often will) repeat over and over so you feel as if it will never end. The symtpoms can be just like a heart attack with chest pain, left arm pain, neck pain, lightheadedness, sudden sweat, and shortness of breath. The symptoms are brief, but again, they can repeat over and over.

Thankfully, there are medications that can help all of these symptoms/problems (except slow heart rate), and get your heart working in better unison with the rest of your body. Slow heart rates cannot be fixed with medication...only a pace maker (IF they are slow enough to warrant such a device). The tests you will undergo will help determine what is happening.

I'm so glad you are having all these things addressed. Stay positive that they will find out exactly what is going on and fix it for you.

Thanks en bloc. You describe it really well. It's of some comfort to know that the symptoms aren't reflecting heart failure, even though it feels that way. You mirror what the cardiologist said in that the symptoms are extremely dramatic. It's of comfort to know that there are options for slow heart rate too. I recall you have a pace maker. It sounds frightening to have that. Does it give you comfort to have it? I would love to know how you have managed with this for so long.

I'm so grateful to have this group. The mental and emotional loneliness of this sort of thing is excruciating at times.

Hey JoannaP79, I'm KATO. New here.to the forum
I'm also newly diagnosed with SFN and Autonomic Nueropathy. I've had it for at least 3 years but did not know what it was. I seen in a post lower on the page you responding to questions about your heart. In the year 2000, I had an ablation. I had sever heart issues. The doc said 10 years earlier I would have had to have open heart surgery. I have always had a low heart rate
Resting rate around 40, active rate around 60. It was very hard.for me to get my rate up for the stress test (I didn't ever get it high enough ). My heart would beat so hard that body would shake with every beat. I wore heart monitors on several occasions but did not get recorded symptoms until I wore one for 30 days. The first attack I recorded my heart rate was over 300 beats per minute and lasted 3 to 4 hours. I thought I would surely die. After an E Study and mapping, I had an answer. It was explained to me like this. I have a natural pace maker in my heart (we have several ) that was miss firing. Instead of the electrical current going from top of my heart to the bottom of my heart the current was going in circles in the top part of my heart. The bottom of my heart was not working during these attacks. The doctors got me to the hospital quickly and done the ablation. I think it saved my life. I had the symptoms for a few years before it was diagnosed. They thought I had micro valve prolapse and several other malities that were ruled out. One doctor even said I needed to see a psychiatrist. I indeed felt verified when the real answer to my problem was vetted. I now only have mild attacks occasionally. I also was told whole life until I developed arthritis nearly all over, that I was double jointed. My knee caps would go almost to the back of my knees. I could dend my elbows in the wrong direction, as if I had broken wings. I could bend my thumbs backwards and touch the back of my hands. I could do several things such as this. I've never thought much of it. I now read about you and Healthgirl and you subsiquint diagnosis and I wander if I should be investigated for the same genetic disorder. While.i was having the heart problems and after, and some now, I would pass out for no reason. I would be standing and talking to someone and just fall down unconscious. I would guess I passed out 18 to 20 times? I also what I called blacking out nearly every time I stood up. My vision would go black and I could hear but could not speak or move. I am still blacking out. Does this sound like it could be due to the Autonomic Nueropathy? If it is, then I have been suffering from this for a lot longer than I thought. I am also having bowel issues. I take Miralax every day and now I have to take stimulate laxatives morning and night just so my bowels will move. I have been in excruciating pain for over a week and a half in my joints. It feal like they are separating and I cry out in pain. This and the bowels are new symptoms. I also have been dizzy, had blurry vision and have been stumbling. I have to set in the floor or on the ground wherever I'm at because I'm about to pass out. Can either of you or anyone, please lead me in the right direction. What should I ask my neuro, does all of this sound like the genetic disease that Healthgirl is suffering from? I know your not doctors but you seem to know as much as one. I still have not heard from my blood test and currently do not have a neuro appointment. I've called them 4 times requesting test results and an appointment because of new symptoms but have not gotten a return phone call. Please help me. Thank you, God bless you all. KATO

Does anyone in your family have similar but milder symptoms as you? Have you been checked for mixed connective tissue disease?

My daughter, grandaughter and my mother. We are all a little different but share a lot of symptoms. I by far the worst. Thanks. No, I have not been tested, as far as I know. Still haven't heard from blood test.

My father also had parkisons. I don't know if that is beneficial knowledge or not.

There is no blood test or DNA test yet for hEDS. It is clinical and is proven by a series of criteria and depending on questions asked about your family.
So I assume that your female relatives have symptoms worse than yours... maybe minus the neuropathy. Would you mind telling me what their symptoms are? It would also be to your benefit to compile a list of symptoms of theirs and yours for the doctors so you can be seen by a geneticist as they are hard to get into. I will be happy to share any information and answer any questions that I might be able to help with on this long journey. It is hard to find someone who is in such a similar situation.

Yes it is for genetics. It is neurological, so that would lead them to check for scn9a- 10a mutations.

Hi Kato. From what I'm reading it sounds like autonomic neuropathy. But it's hard to always know as I've been so confused by what is happening inside.
Id say it is definitely worth seeing someone about the flexibility. I'm not diagnosed with this yet. The next step are tests to confirm POTS. The cardiologist I saw about POTS said a very high proportion of people he sees with POTS have hypermobility. So it is definitely worth seeing someone else. I doubt a Neurologist will help. You will need to find a good rheumatologist who knows about EDS. I have a rheumatologist who told me not to go looking for it. That's no good for anyone. So look online to find recommendations. I've just joined the EDS Facebook group. You will get recommendations for people to see for a diagnosis on there. I've found it really helpful.