NEMO…mais oui, mais non?

This is the email I just sent to Alison, who was the first researcher who really stepped in to help…

I have a headache just being me some days.

I should have majored in biochemistry…

Begin forwarded message:

From: teddyleigh
Date: October 22, 2012 5:41:10 PM PDT
To: Alison
Subject: Fwd: More on NEMO


This is the email I sent to Ryan. I don’t want to be pushy, because I’m very grateful for everything he’s done. At the same time, I don’t want to stop here…

This reminds me of a similar situation I was in a few years ago…when I was really ill in the fall of 2005, I insisted on having a brain MRI. Because my symptoms were mostly infectious disease based, the doctor said, very rudely, “I think that’s barking up the wrong tree”, but I insisted on having one. And paying cash, I got one.

Then when the MRI showed extensive lesions, suddenly most doctors–including the doctor who had just told me it was barking up the wrong tree–now they all wanted to attribute everything that was happening to me to this brain MRI. All my symptoms which were infectious disease based were suddenly neurological. Except the neurologist, who said the MRI didn’t explain everything. But no one else was listening to him.

This time, while many of our clinical findings are similar to NEMO (but *not* exclusive to NEMO),

now I feel the sway is to ignore my family history, which definitely does not support a NEMO pattern of inheritance.

I think the current tendency in medicine right now, is whenever they find something significantly out of normal, is to then try and make everything connected back to that one rare finding.

Where the truth is,

people can have more than one rare finding. Most people who are ill aren’t lucky enough to have a million dollar work up (I’m very grateful…), so I think a lot of things could be found, but aren’t found due to limited resources.

As crazy as it sounds, what if we do have NEMO and something else. Maybe when my mom told dr. Pamela Zarick  I was 16 (who was alarmed that I had a severe ecoli infection with no fever and no elevated wcb), “oh, my daughter is just like me”, maybe my mom was right? At the time, I thought my mom was just blowing it off because she didn’t want to deal with it. What if I do get some of my immunological problems from her after all?

Either way, I understand I might be at the end of the road…while do have access to limited means to travel and to cover some tests (and that is more than many), but I know that’s not enough to cover the mucho expensive tests some of these immune studies cost…

I’m very grateful, but I also have to speak my mind with Ryan too…I hope he understands that I’m not being ungrateful, or that I don’t appreciate everything he’s done.

It’s just I don’t think NEMO is it. If I do have NEMO, then I have NEMO and something else…maybe an enzyme deficiency. (?) That would definitely explain the family history of very bad constipation too–


Begin forwarded message:

From: teddyleigh
Date: October 22, 2012 2:17:13 PM PDT
To: RG
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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