NEMO mutation. I think this is it.

Sometimes in life, the more you read about something, the more sense everything seems to make.

This is an email I just to David’s father about NEMO. My concern is (as it always is), that in the event something happens to me, that David will not get the medical care he needs in order to survive because the people closest to him do not understand the severity of his situation.

(Since we are cursed with looking healthy all the time, people, especially doctors, often underestimate the severely of our health problems.)

In my son’s father’s case, I’m also concerned his financial limitations will also keep him from making the right choices for my son. It already has, but while I’ve been alive, I’ve been able to intervene.

It’s time for both David and I to be on IVIG therapy…I just don’t know how to get it.

Begin forwarded message:

From: Teddy
Date: April 10, 2012 4:58:50 AM PDT
To: Luke
Subject: NEMO mutation–noah’s being tested for this


I just wanted to bring to your attention that David is being tested for NEMO (results take 4-6 weeks, but it got sent a couple of weeks ago),

and the more I read about this disease the more likely I think that this indeed is finally the answer.

What David needs as soon as we can get our hands on it, is IVIG–this is the immunogloblin therapy that has more than once saved my life over the last 7 years. Given the number of times he’s struggling with breakthrough infections, IVIG will help, and improve his quality of life immensely.

There are many different mutations of NEMO, some more extreme than others. Most are recessive in nature, but some (which would include ours), the gene is dominant.

David and I clearly don’t have the most extreme variation (like this boy in the article below I attached for you), but you can not underestimate the severity of this disease.

As evident by the number of times I’ve already almost died, in order for David to have any chance of living a long and normal life, he must have consistent and prompt medical care.

IVIG and antibiotic therapy very well might allow him to function normally (particularly the IVIG), but the only cure would be a bone marrow transplant (which has its own risks–too risky. I think medicine will have a safer solution in ten years, and IVIG will probably work until then).

But IVIG is extremely expensive.

The reasons I strongly suspect NEMO:

(combining both of what I’ve learned from both mine and Noah’s medical histories).

* recurrent sinus and respiratory infections, including pneumonia

* skin infections

* impaired ability to sweat

* heat intolerance

* failure to have an elevated wcb, even with a documented infection (in David’s case, pneumonia, my case, numerous infections).

* my severe chicken pox as a child (ever notice the scar on my forehead?), my issues with hpv.

* lack of a proper inflammatory response. This has been well documented in my medical case–all of my negative imaging studies but than a surgery reveals the problem. A normal person would have shown the problem in their imaging study, which is gaging inflammatory responses (among other things, like growths). But since we don’t create a proper response, we have false negative studies.

* impaired response to the pneumococcal vaccine (David has already had multiple ‘booster’ shots, more than the average child. He just had another pneumococcal vaccine last Oct when he was in the hospital. I flunked it even worse than David, probably due to my age. Immunity gets even worse as we get older.)

* but our responses to other vaccines are normal (just like other NEMO patients)

* and our antigen and mitigen tests have also been normal (like other NEMO patients)

* and our Ig levels and subclasses are usually normal (which some NEMO patients have as well, though I really wish they could test the function of our Igs–I’m sure they’d find lots of deficiencies there in NEMO patients, which is why IVIG therapy helps so much.)

Symptoms of NEMO we don’t have: the thin hair, the slightly unusual face structure, no skin pigmentation. But due to the number variations of NEMO, our not having these symptoms falls within a statistical normal of patients not exhibiting all of the symptoms of a given disease. In fact, its very rare (or impossible?) for any patient to exhibit all the symptoms for any disease. All of our bodies respond a little differently, and we all use different word choices in describing what’s happening with our bodies as well (complicating things even farther for doctors 🙂

No one has all the symptoms for any given disease.

In a nutshell, NEMO is it.

When I’m feeling a little better, I’m going to speak with David’s immunologists about starting him on IVIG therapy–I think it’s time, and it will help him with a lot of other problems as well.

IVIG has saved my life numerous times, but it’s expensive…

(IVIG is probably only about $1500/month at his age now, because of his size, but it will increase as he gets older because the medication is given by weight. Insurance never likes to pay for it, and a disease as rare as NEMO, I’m sure they will argue something to deny it.)

At the end of the day, even if David and I do not test positive NEMO, in the end our disorder is something very similar (too similar, which is why I think NEMO is the answer–)

I just can’t imagine having a set of symptoms like ours, which is so strange and specific (like the failure of pneumococcal, but then other vaccines are fine, for example), and then there being another weird disease out there like that too.

It’s NEMO.
(This article the case is more extreme, but you should read other case studies as well. Remember how David’s sinus infections didn’t start until he went to preschool in the fall of 2005? He was being partially protected at home.)

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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