New to this site-Daughter with SCN9A gene at age of 9years old

We found this site as we were searching for support, answers, questions etc. Our 9 year old daughter has a long list of diagnosis most now being linked to finding we have the SCN9A gene. Anyone else have this genetic gene? I know you can have disease without it , but most Doctors are wondering if being with the gene the disease is worse and affects more of the body. In our case they are proving that the case :-(

Please anyone with knowledge or experience with a child going through this we would love to talk!

I copied this from some medical journal - don't know which one.

Mutations in the SCN9Agene can cause erythromelalgia. The SCN9Agene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. NaV1.7 sodium channels are found in nerve cells called nociceptors that transmit pain signals to the spinal cord and brain.

The SCN9Agene mutations that cause erythromelalgia result in NaV1.7 sodium channels that open more easily than usual and stays open longer than normal, increasing the flow of sodium ions into nociceptors. This increase in sodium ions enhances transmission of pain signals, leading to the signs and symptoms of erythromelalgia. It is unknown why the pain episodes associated with erythromelalgia mainly occur in the hands and feet.

I have never read or heard anywhere that the severity of symptoms is different whether you have the gene mutation or not.

hi ! My daughter has this Scn9A. She is 6 years old. She also has a disease name Paroxysmal extreme pain disorder. We are from Canada, Quebec.

She also has small finer neuropathy… And other condition. We can talk privately and I can tell you on what medication she is. She has been hospitalised for 8 months. She is actually getting out today :slight_smile:

Hello hope4Hae. I have been tested but haven’t gotten my results yet. I am waiting for results fr I m a research study I participated in. I wasn’t aware there was suposed to be a link with the gene and the severity though mine is quite widespread. I am so sorry to hear your little one has it and so severe too. We recently started a group here called parents of children living with Erythromelalgia. It’s just started so parents are c still joining. It is a group b specifically for parents caring for children with EM where you can go to reach specifically other parents in a more private environment some parents may feel comfortable sharing more in. I invite you to join us there. Especially while this group is still growing it is still helpful to post in both forums as a lot of parents aren’t aware of the new group yet and may not see your questions.
My invitation goes out to you too Roxy1976cg. I am so sorry your daughter is suffering too. 8 months is so long for any one let alone a small child to be in the hospital. I am so glad she is coming home . congratulations! I am assuming she has found something to help her and that is why she is comming home today. I hope I am right and that is the case.
Take care,
Alina

Sorry she has been in hospital so long. We were in and out 8 times so far this year so know the frustrations :( I am not sure yet how to private message on here- if you know how to feel free to anytime. Prayers are with you all and hope you get her all settled at home.

Roxy1976cg said:

She also has small finer ... And other condition. We can talk privately and I can tell you on what medication she is. She has been hospitalised for 8 months. She is actually getting out today :)

Thanks I will look into this as well. We are in a research study as well with Xenon because of not knowing the variant of this gene they were willing to do research study with Hae. Hopefully you get all your answers very soon :)

Alina Delp said:

Hello hope4Hae. I have been tested but haven't gotten my results yet. I am waiting for results fr I m a research study I participated in. I wasn't aware there was suposed to be a link with the gene and the severity though mine is quite widespread. I am so sorry to hear your little one has it and so severe too. We recently started a group here called parents of children living with Erythromelalgia. It's just started so parents are c still joining. It is a group b specifically for parents caring for children with EM where you can go to reach specifically other parents in a more private environment some parents may feel comfortable sharing more in. I invite you to join us there. Especially while this group is still growing it is still helpful to post in both forums as a lot of parents aren't aware of the new group yet and may not see your questions.
My invitation goes out to you too Roxy1976cg. I am so sorry your daughter is suffering too. 8 months is so long for any one let alone a small child to be in the hospital. I am so glad she is coming home . congratulations! I am assuming she has found something to help her and that is why she is comming home today. I hope I am right and that is the case.
Take care,
Alina

Dearest members,

I am so very sorry to hear your daughters have this miserable syndrome. We have a parent- child group if you would like to join. http://www.livingwitherythromelalgia.org/group/parents-of-children-livingwitherythromelalgia

We can also put you in contact with other parents - children to befriend, Please just message us asap for their details.

You guys are inspirational!

God bless

mads

Hi have grown up since the age of 3 years old with this mutated genetic gene passed on from my mother.
The gene is part of the sodium channel and the mutated gene stops the voltage gait working like it should.that’s all I have learnt in so many years.
So far thats it and it’s just keep trying different tablets and sit at home with my fan on in all weather’s.I wish you luck Tina x

I could be wrong but I have understood from what I have read and that EM caused by the mutated gene is an inherited condition, starts in childhood and is more severe than idiopathic EM or EM caused by neuropathy, medication, toxins, diabetes etc, etc, etc.

Don’t shoot me out of the water anyone. I know there are people with extreme pain who don’t have the gene, but by and large that’s what I thought was the case.
I am sad every time I hear of these little ones having to struggle with EM, some of them from babyhood. I hope you mothers will join the group for parents so that others can benefit from your experience and knowledge.