More on NEMO

Now that they have my father’s saliva, we should be able to figure out how much this NEMO mutation might be responsible for our problems.

If my father has the mutation, it’s looking much stronger of a possibility. If he doesn’t…

I have a feeling it’s something else…I can’t shake it–

Begin forwarded message:

From: teddyleigh
Date: October 22, 2012 2:17:13 PM PDT
To: RG at CHOP
Subject: Re: More on NEMO

David and I went and saw Dr. Eric Hanson at the NIH about NEMO…honestly, he seemed very excited in some ways (there’s not many people who have been diagnosed in the world so far),

but he was holding back because he wanted to test me first ‘we haven’t confirmed if you have the mutation’. He’s definitely taking a step by step methodical approach, and they’re open to all possibilities, but I got the impression they felt all signs pointed to NEMO…it is the diagnosis on the table to be disproven.

(That’s why we were there 🙂

I agree, David and I very well might have NEMO, but that doesn’t explain my paternal grandfather to father connection, and we don’t even know if my father has the mutation yet. (When do you think you’ll have the answer to that?)

Given my 14 year old half sister on my mother’s side recent bacterial and viral infections (they determined she had mono as well), and my maternal grandmothers strange brown spots on her skin, I wouldn’t be surprised if you end up telling me I got the NEMO mutation from my mother…

Since the mutation David and I have is a poorly understood mutation, they might end up discovering there might be big variation of disease in those with NEMO. This mutation might end being a little ‘mild’–and not explaining he entire story with David and I–

If I did get this mutation from my mother, then that means I definitely got something else from my father.

Since NEMO sounds right, and everything about NEMO gives us clues–that should help us–

Like for example, it definitely sounds like we have a signalling problem of some kind.

By instinct, I used to always say to doctors, David and I have an immune system, it just seems to be half asleep on the job. It gets activated, but it’s a delayed reaction and not as strong of a reaction as a normal person.

(Though some things do get activated normally, like our responses to tetanus vaccine.)

I also have always felt that David has what I have, but only worse, but a doctor recently told me that genetic mutations tend to get worse generation to generation. David being slightly worse then might not be X related after all.

In the end, David and I very well might end up having two rare immune deficiencies. I know that might seem bizarre, but if you think about the small isolated towns my family comes from (my mother totally rebelled of course, so my sister and I grew up near big cities),

but given how close knit these communities were for generations, it’s possible to share two rare immunological diseases.

My half sister on my father’s side who was put up for adoption, Charlotte, born in 1969 who lives in Toronto, hired a private detective and spent ten years trying to track my father done because she was having strange health problems and was hoping to get some answers.

I can’t forget about that.

Does my father have the same NEMO mutation? (Does a lot of the general population have it?) It still would never explain the genetic connection between my paternal grandfather to my father…

Can we dig up my paternal grandfather’s grave? I know where he’s buried. I wonder what the procedure is to do something like that. He was only 46 when he died of colon cancer, and his brother died of pneumonia at 17 (but I don’t know where he’s buried)…


On Oct 22, 2012, at 1:18 PM, RG wrote:

Hi Teddy,

See the response below from one of my colleagues. We are still following up on it. Also, I’m curious about the doctor that requested NEMO being sequenced. Did they ever follow up on this? What was the outcome of the followup?


About hopeforanswers

Some kind of rare immune deficiency, yet to be determined. A lifetime of infections without an elevated white cell blood or fever. Very grateful to be alive, very thankful for the friends who’ve supported me and for access to literally millions of dollars worth of medical care. I’m not the bubble child, I’m somewhere in between.
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