Need help so that I can help my 5 year old

First, thanks for adding me to the group. Here is a little background for out story. My daughter, Caelyn, is 5 years old and was officially diagnosed with EM earlier this month. Doing what research I can, I completely agree with the diagnosis. While it is peaceful to have answers to her bizarre symptoms, I am lost of what exactly is going on because there is just not a lot of info out there. First problem is she is five years old so she also has trouble expressing what is going on and how she is feeling...Second the rheumatology doctor at Texas Children's that we saw has a very strong foreign accent. While I am so thankful that she is familiar with what is going on, I am lost sometimes with her answers in person and through email. We left our first appointment with the following conclusions:
she definitely has EM and the doctor documented in her chart that is primary; all her autoimmune blood test came back normal so that was not causing the EM, she is double jointed in her middle fingers (explain more about that later), to increase her salt intake to help her blood volume and to get moving in the morning, we are seeing the nuerologist in two weeks, follow up also with the geneticist, and a NEVER before diagnosed heart murmur with an echocardiogram scheduled. The heart murmur blew my mind because we have seen doctors throughout her five years and no doctor has said anything about this and the rheumatologist and her intern thought the murmur was so obvious. My daughter is very active so this scared me till we found results.

When the doctor shared the echo results, her comment was that "she has two leaky heart valves but her heart was functioning normally. This leads to more evidence that she has loose connective tissue disorders." There was no mention of loose connective tissue disorder.

When I asked for some info on why we are increasing the salt and was it related to the sodium channel errors, her response was basically, the principal of osmosis that where salt goes water goes...increase her blood volume to make her feel better. I do believe that the increase in salt is helping alleviate some of her symptoms because we have had much better days (especially since we started the long days of kindergarten Monday.) Our main way of increasing her salt intake is with homemade gatorade. Nurses and her teachers are involved and on board with the gatorade and encouraging drinking throughout the day. Monday (first day of school) she came home obviously hurting and her hands were flaming red but still excited about school at least. Her gatorade cup was mostly full. Tuesday and Wednesday she was much better after school and her gatorade was gone. Also to add to the salt story, she went with our family to cub scout camp and slept three nights in a tent in Texas in July and did great despite the heat...I packed three gatorades per kid per day because I was so worried about dehydration. She did awesome with no complaints of her normal symptoms. Plus, it was processed cafeteria food that I am sure was high in sodium.

I think our doctor is on the right track but she has such confusing responses.

So here are some of my first questions after all the rambling...

1. Has anyone else experience a correlation between heart murmurs and EM? In our daughter's case, there was no diagnosed heart murmur before the symptoms of EM.

2. Has anyone else responded well to increases salt?

3. Could the loose connective tissue (double jointed issues) because causing the EM or the other way around? Is that just another "normal" symptom of EM?

I really appreciate everyone's time in helping us. I just want to help Caelyn have better days. Just yesterday morning she asked "is the red finger disease ever going to go away?" That one hurt...

I don’t have any answers to the above. I have seen great relief from Venlafexine. Might want to check with dr.

Just a thought .... whether you could write in follow up to the consultation with this otherwise excellent doctor to ask for clarification? Her written response would (hopefully) be clearer and not delivered through a strong language accent.

Hope you get some answers soon and some relief for Caelyn.

For hard to understand doctors, you should ask your doctor to clarify herself in writing. I also have a doctor that is hard to understand what he is saying so I ALWAYS ask him to write down what he is telling me. Concerning your questions 1-3, I have not heard any mention of any of these on this website. That does not necessarily mean there is no correlation or connection with these and EM. It means you need to dig deeper and do more research. I have had EM now for 3 years and I have seen 5 doctors and not one of them has ever heard of EM. I have yet to be officially diagnosed but nevertheless, I am 100% certain that I have EM with all of it's classical symptoms.

I am an ex-smoker and therefore like more salt than "normal" people so extra salt isn't helping my symptoms at all. Just how much extra salt are you giving your daughter?

One last comment....EM can commonly be related to another disorder. My EM started right after my spine injury 3 years ago. I am having corrective surgery in 10 days so I am hopeful that my EM symptoms will go away or at least be lessened.....

I hope you find your answers...good luck and God bless..

This sounds strange to me. She might have EM, and it sounds like that, but the salt helping her seems strange to me. Many have to limit their salt intact. I'm just an average person so don't take my comments as medical advice, just my layman opinion. I think as many as 20% of the population have heart murmur's as children, so that's not necessarily a rare condition or a sign that she has EM from her heart. Some EM may be due to blood flow and circulation issues. Some may be do to nerve damage or as a secondary issue from some other disease. There is a whole list of possible causes that may cause nerve damage and have EM side effects, so it's difficult to say what is the cause with any patient.

If she had a flare from putting her hands in warm water and heating the hands and gets relief from the chilling of her hands in cold water, that's a classic sign of EM.

People who develope EM when they are young may have it from a genetic defect as you probably have read of the sodium channel nav 1.7 gene. This according to one conversation I had with a person answering the phone who are working on the NAV 1.7 has affected only about 30 family groups in the entire world, so far. So it's rather rare. Because she has EM at a young age or may have it, you might want to have her genetically tested to see if she has the Nav 1.7 genetic mutation. That test costs about $1000 and I don't think most insurance companies will pay for that test. People with the genetic defect may get it when they are younger. Women get it more than men and women pass the genetic defect to their offspring.

Wikepedia talks about what causes EM in the article and common causes are listed here and on the net as well.

Some more rare causes of the disease are more difficult to find but knowing the cause doesn't necessarily help much, if it's a rare primary form of the disease, in other words from autonomic disorders or nerve damage. It seems that helps figure out how the patient got the disease but doesn't address how to help it.

The good news for those who have the genetic form of the disease is Mexiletine hydrochloride, USP is an orally active antiarrhythmic agent. Mexiletine (is an oral lidocaine) might help them. The typical dose of it is 1/10th the dose for those who use that older drug for heart pulse changes. This drug was used to stabliize or change the heart rythm of a persons heart. Those who have primary EM from genetic defects respond well to this Sodum channel blocker, but it's a broad band blocker that turns down all the sodium channel signals. The research team targeting the NAV 1.7 genetic defect are working on creating a specific channel blocker that only blocks the narrow sodium channels which cause EM pain in a patient with that form of EM.

I find it interesting that she has a heart murmur, from the perspective that the Oral Lidocaine changes heart and corrects heart arrhythmias.

The normal dose for heart patients is 10 times more than the dose for treating neuropathic pain. So the typical dose one would find of Mexiletine for heart patients is to strong for treating EM and is much more risky. A typical dose is 150mg to 250mg and in a capsule form at a local pharmacy. To strong for EM treatment. The medication does come in a powder form however and a chemist pharmacist that creates unusual doses of a medication can be used to create the smaller dose. For my mom for example a dose of 10 to 15 mg per dose instead of 150 to 200mg might be prescribed. We have not tried this for my mom, but we could potentially try this. To get that we'd have a doctor right a script for that and try it. With a 5 year old the dose would be perhaps even smaller. It might affect the heart beat patterns of the heart of course, so it would be up to your doctors to determine if this would be a good route and when to try this and how she would be monitored when the drug treatment was tried. Our home health care MD/doctor stated the smaller dosage for treatment of neuropathic pain like EM was so small there would be virtually no risk at all to the heart from it.

If one has the Sodium channel defect it can be determined with a genetic test, but the more affordable way to see if that is a problem and if Mexiletine can help is to try the pill before you get the test as that will cost. It probably would still be a good idea to get the test, but one won't know if the Mexiletine would work until it's tried on the patient. Whether one has the genetic version of the disease or not, one cannot tell if the Mexiletine will help unless they try it on the patient.

Hope this helps some and provides some food for thought. I can only speak from the experience of witnessing EM in my mother and have never met another person in person who had EM. So I'm speaking from my experience in seeing the disease. There is a lot of good information out there.

A couple other things you can do. You can measure the skin temperature of her pain flares using a $30 IR skin temperature reading device. Available at CVS pharmacy for example. You may be able to check her blood pressure with an automatic blood pressure gauge and take readings to determine how her blood pressure is during a flare. My mother has higher blood pressure on the side of the flare. One drawback is testing this on the arm while a flare is happening on the hand might cause a lot more pain, so I'd consult with your medical professionals before checking blood pressures during a flare. I don't know if the blood pressure reading is very beneficial, but it's more data that might provide more information. My mother has higher blood pressure on the side where the flare happens when one side flares more than the other side. Blood pressure can be higher from pain and stress. Blood pressure may vary a bit from one side to the other. My mother had low blood pressure and a slow heart beat before she had EM. She has high blood pressure now and takes blood pressure pills. Under extreme pain the heart may increase blood pressure.

In the old days someone injured in battle with a broken bone, (in the middle ages for example) could die from a blood pressure spike that would cause a weak blood vessel to burst for example. The broken bone didn't kill some, the pain from it did. A blood pressure spike can be dangerous and a result of pain. With EM blood pressure can increase with a flare or perhaps cause a flare. There are discussions about that elsewhere on this board.

I thought I put out a second post but maybe it was moderated and the post is being held up.

Another thought is that a person may have extra beats and the heart become inefficient when they have a rapid heart beat due to lack of electrolyte. If that is the case, dehydration and electrolyte loss could be causing rapid heart beat to the point of it affecting the circulation. If that happens and blood isn't pushed well through the body, the blood flow could be not returning from the hands and they could be swelling up from a circulation issue. Drinking gatoraid could provide the fluids and electrolyte necessary to allow the heart to return to a better and more efficient beating pattern and it would become efficient again. Just a thought. I have had heart attack like dizziness and symptoms from fatigue and lack of fluids. Because I was dehydrated I felt dizzy and had pain in my stomach. Thought it was a heart attack and my heart was checked. It was likely dehydration. It could be that she is simply having a fluttering heart that is not pumping blood from her hands and it pools there. In that case fluids and gatoraid would help restore normal heart function. It sounds like you should check up on that prospect as well. As most EM patients get worse when they have more salt as far as I know and have read.

One last thought but I don't want to alarm you. People who have bad hearts may have circulation issues, the elderly of course with a heart that is failing may have a heart that fails to pump blood and fluids efficiency. They may end up with edema, a swelling of the hands and feet due to their heart. It sounds to me, as a layman like the heart issue with heat beating are likely from some kind of imbalance and that is causing the swelling. It sounds to me like this isn't EM. But this is just my guess from your post.

One last thought. People with heart murmurs are at more of a risk of having the heart beat rapidly out of control when they are dehydrated. Even a strong professional tennis player in the past died of a heart attack due to fluid loss and the heart going into a dangerous irregular heart beat. So this is possible. I had a heart murmur my self and a leaky valve diagnosis. I also used to play tennis and would get dehydrated and at times my heart would go into a rapid heart beat mode. I had to drink a lot of liquids. So this kind of stuff can happen with a heart beat. And a lot of children have heart murmurs.

Thanks for your reply. I really appreciate it. Here is what we learned since that posting. We have seen a pediatric neurologist twice through Texas Children's. In his observation, he cannot see any neurological issues present at the time. He and I discussed the genetic testing but decided against it for multiple reasons - price, would it really change any diagnosis, etc. He warned me on our first visit that she would have trouble when the weather started changes. Not sure where you are from but we live just north of Houston and this time of year is crazy for weather issues. For example, we started the day off last Sunday with 80 degree humid weather, we returned home through the cold front and dropped to 50 and she flipped out. She was laying on the couch fussing and complaining about her body hurting and getting hot...He says her behavior was typical of a nerve issue. He said we could do the nerve testing so see how well her nerves are functioning but we both agreed why bother with all of it since we are holding steady at a "happy" spot. He suggested maybe doing it when she has more "problems".

We have seen a cardiologist and had an echo-cardiogram, ekg (I think that was it - electrical impulses in the heart) and a physical examination. She said she no evidence of anything but an "innocent" heart murmur typical of children. She said that she would consult her medical information to make sure that she wasn't missing anything but she was confident that everything is fine with her heart except for the leaky valves.

I understand the confusion on the salt intake...I googled and googled about that too. I saw most people said that had more flares but there were a few people that said it improved their symptoms (this was on people's personal blogs). There is no doubt in my mind that she has EM. Before we had a diagnosis, I would google her symptoms and nothing fit just right. When we received the EM diagnosis and I researched what I could, she fit perfectly. Here is what we have observed and the rheumatologist agreed...her flare ups seem to be tied to her emotions, specifically anger...she has the classic symptoms of a full blown flare up when she gets really, really mad at her brother where her hands look like all the pictures. It is not tied to being crazy excited - for example, she road all the thrill rides a 48 inch tall child could ride at dollywood this past summer with no complications. But if I am combing her and she doesn't want to stand there for all the knots...she will tell you I am getting hot and complain about her hands going crazy...next she is on the couch with ice packs. We have also found that topical lidocaine in the aloe for sunburns and the new aspercream calms her complaints in her limbs. We actually first figured something was wrong with a thermal scanning thermometer. I thought she was crazy hot when she complained about her limbs but then I would take her temperature under her tongue and it was normal but her body was crazy hot.

Here is how we stand today. We have had only one issue when the weather did the major flip flop the other day. Otherwise, we practice calming down and breathing slowly when we get mad and we have pretty much yet to have a real flare up since the summer. We got a chillo-pillow and she loves it. We drink one cup of homemade gatorade a day that has the equivalent of 3/4 the amount of salt of a real gatorade. We have not had any flareups or "getting" hot or red finger disease as she says. Between the neurologist, her regular pediatrician, and me, we are coasting happy so why rock the boat. We are following up with everybody every 6 months. We all agreed that if salt, calming down and a cooling pillow makes my six year old happy, we are rolling with it until that changes. She is happy again and feels better - like before all the crazy symptoms started. We still have some symptoms but there are manageable now. She no longer cries because her hands or legs hurt...she rests well now and falls asleep with minimal complaints. Maybe there is an underlying minor orthostasis issue causes more flareups and the salt helps circulation but the doctors are happy, I am happy and she is happy (the most important!) so we are riding this wave right now.

Edgemoor77, that was a brilliant reply! Really well written and I am so pleased that things are going well at the moment.

You also have a sensible neurologist which must help.

I really like the neurologist! You are so right about a sensible doctor! When I first posted this discussion I was at the end of my rope on the confusion everything going on. All I can say now is I am sleeping at night instead of spending hours googling to find answers. We also have an amazing pediatrician. We had not seen her since the diagnosis till last month and she gave us that pat on the back that we needed. She said if it works roll with it and she would do whatever we can to help my child including writing a lengthy note so that she can go to camp! My daughter wants to go for two nights to daisy girl scout camp (without me - yikes! she just turned 6!) and the pediatrician was all on board. She said she would write up a "medically necessary" letter if it insures that my daughter is happy and can be a "normal" child doing "normal" things! Of course, what is normal in a 6 year old's life!

You are so lucky to have people like that. I wish I had I just spend like you ages Googling things and going to all sorts of different specialists without getting anything sensible out of them. I can see that you must be worried about your daughter going away only being 6 years old, but the paediatrician is right she needs to live a "normal" life. Great that she is doing the right up so that people in control know exactly what's going in if needed.

Wow very interesting. Truly there are a lot of different versions of EM and it sounds like this is one type of it from what you have said.

A couple thoughts. Getting excited and stressed can often trigger it. Perhaps with a "minor form" of it a person isn't always triggered when they are excited but blood pressure being elevated could bring it on. Gotta wonder if when she is excited if the distraction causes her to ignore symptoms when she is distracted enough by something she likes or if her hands swell each time she gets a flare and it's noticable.

The heat and temperature of the skin being different are interesting as well, sounds like classical EM there.

I can't speak for everyone or even a small sample of EM patients, know basically what I've read out there and what I've seen with our own strange case here. I'm wondering in some cases if this could be triggered as a secondary flare from the arthritis, it seems to me that that can at times trigger EM as well. Which might in your case not show any nerve type of damage that could be discovered.

There is obviously a lot of guess work on my end as a layman, so it's often better to go with the doctors.

I can't say how she'd react to various nerve tests, but I can say that my mom had nerve velocity tests by a neurologist and my mom has some hyper sensitivity to touch and her EM causes her feet to be very sensitive but she almost always has a kind of low level flare. That could be a sign that my mom has a lot of nerve damage compared to some cases. But in the case of my mom, when needles are put in her leg for any kind of test, she later complains about pain where the needles were in, even 8 or more years after she was tested with needles for nerve velocity tests she has at time complained about the pain or sensation from those tests. So my opinion, which can almost be worthless but is just based on our experience is be conservative on the tests involving needles and nerve velocity tests.

Every person is different of course, but perhaps some like my mom are more affected by drugs that pass the brain blood barrier. Those kinds of drugs are sometimes more useful in targeting pain related to nerve conditions, because they can get to the nerves affecting EM. But those drugs could also damage the neurological system perhaps in some way. Perhaps not for most EM patients, but for a subset of them.

The cream helping her sounds interesting some creams help EM patients and finding the right one can benefit. In some cases creams like the one you mentioned may hold in the heat, because they are more greasy than others. We have not had luck with some numbing creams because of heat buildup. Once you find a good cream that works, there is no harm in sticking with it. For my mom creams like Hawaiian Tropic with Aloe will hold in the heat and cause as much pain as relief if not more, because heat retention hurts her, but she probably has a much more severe form of the disease than your daughter. My mom has luck with lanacaine and we often mix it with Camille Backman's french vanella cream. The Lanacaine is available anywhere, and the Camille Backman's cream is found around here at a Hallmark store and one hardware store, although it can be ordered online. We mix 50/50 but at times we have put lanacaine on her foot without the mixture and it works as well or better sometimes without a mixture. The other cream helps moisturize the area of my mom's foot as well so that's what works for her without heat buildup.

I wonder, but this might not matter for flare ups if a lidocaine pain patch would help. I find it interesting that lidocaine type numbing agents can help many patients, maybe that is natural and based on the pure effects of those being able to numb the area a bit, but perhaps it's a sign that they would respond well to other lidocaine based treatments.

If you can afford it, I'm not saying of course you must, but I'd wonder strongly if she has this from the genetic defect. Being so young and having that is a sign that it's from the Nav 1.7 genetic defect. If she had it from that you might have good luck with the Mexiletine treatment, but then again being young perhaps just dealing with flares as they happen could be enough. If she is being treated for arthritis, does she experience flares when that pain happens as well? I wonder how much of this could be possibly a secondary relation to perhaps this other condition. Also have you put her hands in warm water and seen flares result? I'm assuming you have as heat almost always generates a flare.

The Chinese version of EM which was caused by a pox virus affected students who were sleeping in cold conditions in one case. So the cold weather was thought to trigger it in some mysterious way. But I don't know how rare that condition could be and if anyone in the western world has every been found to contain a rare pox virus to cause their EM. One article stated that it was a damage to their autonomic system which is some kind of damage to the nerves that automatically regulate the nerves. I'm also wondering, but this is more of a general question the the group as a whole and might be a better subject for a stand alone topic, if patients who have EM flares experience strange pain in their hands or legs which have flares if the hands or feet are brushed in different ways with a soft brush. I find it interesting that my mom has pain from a soft brush on her feet, and wonder if other EM patients have the same kinds of reactions. Is that a sign of some kind of neurological defect? I'm just wondering as a casual observer of EM symptoms here, not as a medical professional of course. When it doubt, always ask a professional.

In our case of course as with many EM patients we end up asking a lot of questions of different doctors and this of course can be very time consuming for them. So in our better visits we have a list of the more important questions and will ask them. In our meetings with the doctor where mom goes off into other ailments and tangents, sometimes we leave with virtually no new answers to some EM related questions. In our case, but I'm getting off the subject, the habits to avoid pain triggers have caused other health problems, so we end up with secondary problems in mom's health due to the adaptive changes in lifestyle to avoid pain.

In my opinion, but this is just my lay opinion if I had any young person with a confirmed case of EM happening, I'd get the genetic tests. I really want to test my mom as well, but we just haven't done that and people who develop EM late in life often are not tested for it as they are falling out of the pattern of the genetic defect. The best reason to test is to get some kind of other confirmation and because she is so young. We have thought about whether my mom's is some rare form of genetic related primary EM. And we often wonder is her's due to the genetic defect. Some say if the patient is not young or more than one relative doesn't have it, you're better off not testing for it. I wonder however, should I wait for my younger sister to possibly develop it later in life before we get my sister tested? Should we just try an oral lidocaine first? Or should we get the test first? They are really two different questions and supposedly the oral lidocaine can help some, perhaps even those without the genetic version of primary EM. It's more likely that oral lidocaine however will work with a genetic version of the disease.

In either case you can always do the genetic test later. Perhaps her flares will go away over time or treatment for other conditions will help and if it's minor and something you can deal with you an always do the tests later.

KEEP GOOD NOTES

One of the best things you can do is keep a diary of things you've noticed. It can perhaps give a clue. Have it with dates and details that you notice, as long as it doesn't totally consume you're life, you'll find such a diary could be helpful if the disease and problem lasts for years and years.

(If a doctor tells you why one of your theories or questions is wrong, it's a good idea to jot that down fairly soon in a diary as well. I think more notes are better. Doctors will of course offer different opinions and ideas on how to treat a rare disease. They may end up with a list of treatments and options which they will run through over time to see what works and what doesn't. I have to wonder out loud here, does every EM patient respond well to lidocaine creams and numbing creams?) I'd also say beware of steroids for a young one if it ever comes down to that. Although rare, a side effect to steroids could have a major impact on a young person's life. I know of one friend who had steroids when he was ten and it caused major stunting of his growth. He developed a disease/reaction from the steroids. That caused a massive change in his health as it stunted his growth. He stayed at the size of a ten year old. So heavy duty drug treatments can cause heavy duty side effects in rare cases, so be careful with your young ones.

Of course changing one thing at a time, if you're trying to determine what will help is better if one has the chance to do testing of things that can help. If one changes to many things at one time, it could be difficult to determine what helped. As an example my mother had a nerve block but also received a vitamin shot. If she experiences some kind of side effect where did it come from? That may be a bad example. But in the cases of medication of course, most doctors will not load a person up with a lot of new drugs, because they can't tell what interactions are going to happen and which drugs were actually effective. So adjustments in treatment may take time.

And keeping good notes can be valuable. We have had some drugs that didn't work and we noted them down, but others we talked about and we may have discussed them for a while and thought the side effects would remain in our collective memory. Then years later when we are told about a drug from a new doctor which already had bad side effects, due to a lack of organized notes we had to search our memory and wonder the exact side effects that happened with some of the more rare drugs we have tried.

This is also common sense, but it's also a good idea to prioritize the questions you have to the doctor and have a really brief question for each point, so as not to waste their time to much. I've been in appointments where both parents and I could go off on tangent points (kind of like my posts at times. . . ouch) and that wasted to much of the doctors time. I've gone to a neurologist with five to seven questions on a short list and only had three or four of them answered. To prioritize the questions and ask the more important ones is an obvious common sense good idea in preparing for an appointment. Sorry but I'm starting to get a bit off topic.