Finding NEMO: maybe dreams can come true

Unfortunately, I’m suffering with a horrible headache right now so I don’t have the energy to write all the details of the day…and what a day it was–what a really great day. I’m so grateful to Dr. Hanson and his team for everything. I’m still lying here trying go digest all of the information.

I’ve never spend an entire day with the same doctor–I’m usually the one who feels like I’m coming on too strong, and today I was the one who was worn out by the end of the day!

I learned a lot about how generic mutations work, and how we all have lots of mutations that may or may not cause disease. With David’s NEMO mutation, they don’t know for sure whether or not it causes disease, which is why they would like to study David and David’s family history completely in order to figure out how to best help him.

That’s a big task. There’s a huge sea of A T C G in each of our cells. Instead of an A, David has a T in one of his sequences. At least I think that’s what the change is (?). But it’s literally one letter off. That’s more than a needle in a haystack. That’s like trying to study grains of sand in the ocean.


So we talked a lot about our medical history, and then they also did a skin biopsy of David. This is the part that’s really cool–they’re going to grow his skin cells and then turn them into other cells in his body to see how they behave.

David was a little spooked about doing the skin biopsy, but in the end he was a trooper. He thought the little vial of pink liquid was kinda cool ‘is that going to feed my cells so they can grow?’ He’s a smart cookie 🙂

Tomorrow I’m going to get registered into the system, and then they’re going to do a skin biopsy on me and then draw blood on both of us. First thing they’re going to do, is test me for the mutation to confirm that I do indeed have it (Noah could have a spontaneous mutation, in which case our problems are rooted elsewhere in our immune system).

But I would be *severely* surprised if I don’t have this mutation. Too many things are making sense.

I think what surprised me the most about today, was just the degree of time that everyone spent with David and I. They were leaving no stone unturned. And because I’m not the greatest historian, I kept having to add things, ‘oh ya and there was also the time xyz happened’. I feel bad I didn’t come better organized. I just didn’t realized the extent of the commitment they’ve made to David’s case.

And they’re extremely committed to helping David…and in order to help him the best, they need as much information as possible from everyone in his family as possible. Both sides. I was a little taken back by how geared up they were to give David such an thorough workup. It was almost like my midnight wish was coming true.

My father (not surprising) was being extremely pig headed and not helpful when I spoke with him tonight. In addition to me, he’s the guy in my family with all the health problems (hence where I got it), and he’s now being a complete jerk about it. ‘I don’t know why you’re even taking David there. He’s fine. You should just stop taking him to doctors.’. Well, they already found the mutation, and that’s why we’re here. ‘Well, you should just stop anyway.’

Now how does that make any sense?

I don’t think I’ll ever understand the psychology of cruelty that exists deep within so many families. Don’t you think people would be happy for David and I? Happy now that David might have a chance at a normal life?

Maybe because they all wanted to believe I was just somehow making this up in my mind, and now that they are being confronted with the reality that yes, indeed I have been suffering for all these years,

and now they can’t just readjust?

I’m not surprised my father is being difficult though. He’s been difficult his entire life. I just tracked him down a few years ago, in order to get answers to what was wrong with me. His brother, my Uncle Bobby, was extremely helpful with that. Without Uncle Bobby’s help, my father never would have opened up with details from time to time. My father only talks and shares some medical records because Uncle Bobby started first. I share this moment with Uncle Bobby.

I hope my father is not so selfish that he won’t give blood for a family study. That would be even particularly cruel. I haven’t even spoken with my mother yet. I can’t imagine that it can be worse.

This is million dollar workup that they’re offering to help David get cured so he can live a normal life. And they’re offering it to David for free.

I might just have to go back to Ottawa and get the blood myself.

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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