Hi Folks,
I have been low key for a while as I haven’t had anything else to add, Emily has started a raw Vegan diet and is using Organic Spirulina & Chlorella. Three and a half weeks in no massive improvement. She is now also on Duloxetine.
Appointment on Friday to discuss a Sympathetic nerve block as it her feet that are by far and away the most affected.
With respect to Ice I would also advise against its use, it relieves but causes more issues than it resolves such as chill blains poor circulation.
Anyhow below is the reply we received from Xenon today, slow progress but they are on the case. All I can say is hang in there
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Hi David,
Your email was passed to me. I am a genetic counsellor and research project manager here at Xenon.
It sounds like it has been a very difficult time for your family and I can appreciate how important it is to learn as much as you can about EM. I hope you have the support of a good care team who is helping Emily find medications that may help to relieve her symptoms.
In regards to Emily's SCN9A result, we should be getting the information back from her gene test in the next week or two. Then it will take us about a week to generate her result. We know that a small portion of individuals are found to have a mutation in SCN9A that explains why the individual has EM. This means that majority of people are not found to have a mutation in SCN9A. For those that do not have a mutation identified, there could be another gene involved, the test may not have detected a mutation or it could be due to environmental factors. When we mail out her result to her doctor, we will indeed email you so you can schedule an appointment to receive her result.
Our EM genetic research study is going well and we are grateful for the communities help. We reached our goal of having over 200 individuals participate with us and we are in the process of generating the SCN9A results for those that wish to receive them. The next stage will be to see if we can identify new, or novel genes that might be contributing to this condition. This type of gene discovery research is important in that it will hopefully teach us more about the causes of EM, aid in diagnostic measures and potentially give us an ability to develop novel therapies.
I hope this helps to answer some of your questions. Please feel free to keep in touch.