A story for those feeling defeated

Hi, my son is 5 years old his name is Jeffrey and he has Erythromelalgia episodes. I fought for 4 1/2 years telling doctors there was something wrong. He couldn't walk long distances, couldn't walk up stairs, screamed at night due to hot red feet to the point he would shake and scream and cry and nothing helped him. I was told for 4 1/2 years that I was nuts. It was growing pains, kids grow and it hurts...not like this!

We saw his cardiologist (also has severe heart defects), pediatrician, cardiologists (again), rheumatologist (who said it was heart related), cardiologist (who said definitely nerves, rheumatologist (who said no definitely circulation related), cardiologist (who said growing pains or seizures), neurologist (who said no circulation = cardiology), cardiologist (who said absolutely not heart related! It's growing pains! BUT if we absolutely wanted to put him through an EMG and see a neuromuscular specialist even though they won't find anything we could. So we did), finally a neuromuscular specialist who after a 2 hour appointment figured out it was erythromelalgia.

We were sent for the SCN9A (that's the gene right? I feel like that looks right) test and told we would come back for results. After waiting 4 months for results I called and we had an appointment the next month. They called me and said there had been a mistake (the SAME day as appointment) that they were supposed to refer us to different neuromuscular specialist who knew more about it and our appointment wouldn't be until May. A full year after we had the initial diagnosis! I lost it, cried, broke down, I was so upset. They called next day with an appointment the next week.

We went, saw an amazing specialist who oh my gosh was just absolutely so sweet to us. He put us on Gabapentin. And, he still complains about legs being sore...but he is able to do so much more. I have now had two months of not waking up with him screaming due to the pain. Before that, I hadn't had an uninterrupted sleep since I was pregnant with him. He is able to climb now his bunk bed and able to sleep on the top bunk. He's able to run a bit and play tag. His school has said he doesn't need naps anymore because he's getting a full sleep at night. They said he's able to run and play tag with the boys, though still not as fast as others but he's able to do things he'd never been able to do before.

I just wanted to take a second to show everyone that there is hope. It may not seem like it on the late nights you guys are up in agony or the days you can't get out of bed because of this awful disorder but hope is out there for you. I hope you all find relief somehow, I can't imagine the pain you guys go through.

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ConcernedMomma you are a gem. Thank you so much for posting this. Particularly for the youngsters among our membership this story shows you should never give up trying and hoping.
Bless little Jeffrey. I hope he and all the family have a lovely Easter.

Thank you so much for posting your & young Jeffery's story - I know how you feel with the medico's - it took me 7 + years to get a diagnosis and I know the frustrations only too well and empathise with you and so heartening to know that Jeffery now has at least a chance of a near normal life and it must be a huge relief off your mind as well - it's the best news I have heard for a while and gives hope to us all and maybe one day there will be some sort of medication or treatment available to EM sufferers that will let us have our lives back and give the young ones a decent chance of having a fullfiling life ....

Bless you both - Take care

Greg - (frostbite)



In fairness, the doctors were often pushing you in the right direction. When the rheumatologist said it was a circulatory issue, they were technically right. When the cardiologist said it was nerve related, they were technically right, as well. Unfortunately, a "how" without a "why" is not very helpful.

I'm glad your son has gotten relief. That's great! You should know there are pharmaceutical companies working on medication that would target erythromelalgia, specifically the Nav1.7 sodium channel ion encoded by the SCN9A gene. Pfizer ran a phase II clinical trial last year on compound PF-05089771. A number of other pharmaceutical companies are also working on selective Nav1.7 blockers.





Thank you so much for sharing Jefferys story with us. It brought tears to my eyes reading this. I am so glad the Gabapentin is helping him do much. As carterdk said there is also another medicine in the works specifically for hereditary EM so when that reaches the market he could get even better!
you did good concerned momma. You just kept up the fight till you could find someone that could help. I call it the fight because that’s how I felt for 2 years with so many doctors appointments it could have been a full time job! All being told I was crazy But if that’s what I got I just went on to the next until I found someone that could help. I must have seen at minimum 25 to 30 different doctors minimum before I found some help.
I’m so glad Jeffrey has you to fight for him.

Dearest Ashlee,

Thank you so much for taking the time to let us know the good news about darling Jeffery. Gabapentin is a popular firstline therapy so hearing something positive is so uplifting :).Your fight has been inspirational. I think we can all take courage from your story to keep on battling - even if it seems against all odds. Never give up on that hope!.

Thanks for highlighting research , Carter. I think we often forget that we are not privvy to the research going on out there. Whilst its true that EM research is performed with essentially primary sufferers , the sodium channel blockers in development are for all types of EM. There is very good evidence that Nav1.7 is a key player in pain sensation in EVERYBODY with or without genetic mutation, and in primary, secondary or sporadic EM's. This is pretty true for the few of us who manage to secure the extant amine sodium channel blockers -mexiletine and lidocaine. Some of us have up to 30% reduction in symptoms and several remissions have been reported. EM research is happening slowly and rather silently, often under the guise of genetic , neuropathic treatments or refractory pain medications. Last year our community were involved in both genetic and epidemiological projects with Xenon :). 'Channelopathy' is the current buzz word , and most of the major pharmacetical companies are actively pursuing Nav1.7 as well as Nav1.8 and Nav1.9 as analgesic drug targets e.g. Xenon , Pifzer, Teva, Convergence etc... There are also several independent studies by Faber (Holland), Waxman (USA), Bennet(UK) etc. Last week we uploaded 2 new studies from France and Turkey. Significant developments are on a topical drug that targets a number of different sodium channels (Phase 2 b- neuropathic pain indications starts first half of 2015) ,and selective oral Nav1.7 inhibitors that target a number of different sodium channels.

EM research has never been so vibrant or hopeful! :)

Great response, mads. Yeah, sorry if my response made it sound like the Nav1.7 research is for primary EM only. Glad you made that clear. Many pharmaceutical companies are pursuing it because such a drug could be applicable to a wide number of conditions and very profitable.

I will never think well of the doctors we dealt with until the neuromuscular specialist. For 5 years I was told I was crazy. The only reason they would refer me to anyone was because I would lose it in the doctors office and say SOMETHING is wrong LOOK. I brought pictures and videos and logs that 3/4 of those doctors wouldn't even LOOK at because that would take too much work and they all thought it was growing pains. The only reason they kept referring me to different people was to get me away from THEM. They'd give me 'ideas' about what it was to try and get me off their hands. (If this is reading angry/mean I'm just REALLY still so angry about his doctors and the way they treated me.)

With the warmer weather Jeffrey has now complained the last two nights of leg pain but it was not the screaming intense pain it has ever been before and it was manageable with some light massaging and leg elevation.

It was definitely a fight Alina! It was awful, and heart wrenching. We were run pretty ragged. On top of his EM he has Double Inlet Left Ventricle, only half his heart is functioning so in between fighting for help for his legs we had 3 open heart surgeries, too many procedures and sedations to count, appointments, and extensive speech therapy (once a week) AND working full time. We were exhausted which is probably the reason I was such an emotional wreck at every appointment!

I'm glad that they're doing more research and more things are becoming available for people suffering with EM to try to help with the pain because just seeing what this pain is like is awful enough I can't even imagine FEELING it. I know what it's been like for my son to watch others walk and run and himself not being able to I can imagine it gets worse as you grow and emotions you feel are deeper.

Hi there Concerned Momma
We have been through so much of the same things that you have been through only not as long. My daughter Kensie began waking up two years ago at the age of four screaming at the top of her lungs crying saying though her tears my feet are hot they feel like there on fire. So we began seeing all kinds of specialists and yes they all looked at me like I was nuts. My sweet girl has not slept through the night in two years. Finally we were referred to dr.tarnpolsky and on to dr.baker. We have been for the genetic testing and she does not have the mutated gene. Based on the photographs I have shown doctor baker of her feet during a flare he defiantly thinks she has EM. We are currently waiting to see him for a follow up to discuss how we are going to treat this and possibly have some further testing done to try and find a cause but we are left waiting till January because he’s such a busy man. I just wanted you to know that there’s another mom out there who understands what you have been through. If you ever need an ear to listen I’d be happy to.