Saturday, September 7, 2013

A Full Week...

I'm sitting up in bed, listening to the hum of Max's fan, and roar of his ocean machine.  He's sleeping, and his dog, George, is feeling far too snuggly for my liking.

This moment feels like the first time this week I have stopped to relax.  We've known for some time that the paper would be publishing "any day now."  We've been in pretty consistent contact with the research team, and communications department at the University of Colorado, preparing for the release.

It just so happened all the interviews, press release, and subsequent hoopla fell on the same week as starting our latest adventure, nursing care for Max.

In between interviews with newspapers, and local tv stations, regular therapy appointments, and school for Max, I was training Max's new nurses all week.

So far, the nurses are wonderful.  Max is warming just fine to the idea of some new friends to hang out with at night.  Steve is great at finding them tasks to take off our nightly routine.  And I'm ever so slowly trying to let someone help with Max's care.  I think everyone agrees it will take me the longest to get used to. But, I will get there. . .and until I'm there, I will just sleep with one eye open...and master the skill of hovering.

We have another interview next week.  One which I'm not sure where it will show up, as they produce medical news for dozens of stations nationally.  If you've missed the videos or news articles, here they are in links.   We will put them on the publications tab once soon.

The press release with photo on CU/Denver's webpage.  

Local NBC station, 9news report by Chris Vanderveen.

Local Fox31 station report by Tammy Vigil.

Front page of the Denver Post.

McGill University Press Release, The doctor at McGill University initially got Max's skin biopsy to find which type of cobalamin complementation he had, and assisted the discovery of the additional 13 boys through the work in his lab.

NIH National Human Genome Research Institute press release.  Max is a part of the study at NIH, the doctors at NIH are who first pieced together Max and his brother from another mother being so similar, and ultimately sharing the same gene.

Some questions we've gotten as news has broken, that may be missed in the articles:

- How many cases in the world?
14, Max was the first identified case.  Max is 1 of 14 known cases in the world with CblX.

-Why is it only boys?
I passed the bad gene, HCFC1 on to Max. That flawed gene is on the X chromosome.  Since I have 2 X's, I have an extra to compensate for the flaw.  When I passed it on to Max, he did not have an extra to compensate, causing all of his medical problems.

-Poor Max, too bad this won't help him.
This has been said in one form or another after each press article comes out.  This absolutely helps Max.  No, it's not going to take away the damage that's been done, but it will mean the start to finding ways to improve his life through treatment, and the lives of every new son born with CblX.  And if I've said it once, I've said it a million times...there is no room for pity here.  We love our lives, and our son makes it an exceptionally beautiful one to live in.

-Do you know any of the other cases?
Only online, Subject 2's mom and I have been talking for a while.  We will get to meet next weekend, and see the boys together!  We are hoping more of the boys' families will find us, as they are notified of the new disease!

-Are you tired of the attention yet?
We usually keep pretty quietly to ourselves, so having all the extra activity in and out of our lives is a bit hectic.  BUT, it's important.  In each interview, I make it a point to say just how rare of a disease this is, and the reason we are doing the interviews is to inform more of the world about these rare diseases.  That bit never makes the cut...but I'll keep saying it.  The more exposure to the human side of research, the more the public will see it's not just slides under a microscope.  The way all of the reports have come out have done a great job of showing the human element to this discovery.  We couldn't be more fortunate to have the team of researchers we've had working on this project.  Dr. Tamim Shaikh helped me write up the initial announcement blog-post, and has talked us through the "science part" of our interviews.  We're very happy to be getting the word out, and if that means a bit of my introvert tendencies are challenged, then so be it.

-Will anything change for Max's treatment?
Not that we know of, as of now.  We will go on treating Max as we have for the past 9 years.  If his doctors think we need to change something we will, but right now, Max is doing well so we let him guide how treatment will go.

-Do you feel guilty that the gene came from you? (yes, this was a question more than once posed to me by reporters)
No.  What good will that do?  I could have passed on any number of genes that could have mutated. Anyone who knows me well, knows that I am a firm believer in everything happens for a reason.  In one of the reports, I said how everyone wishes for their children to change the world, and Steve reiterated it in another report. Max has done that.  That's not just a fluff response, he has absolutely changed the world by just being born.  And that's something good that I brought into this world by passing on our special gene.  I am relieved it is just in me and Max, and not a possibility in anyone else in my family to pass on. Do I wish it hadn't affected him so severely, and made him have such a rough go at times?...absolutely.  But that's not a fault of mine.  That's a faulty gene that just messed up.  Maybe it's not faulty at all.............maybe that's our super-hero gene.

-What's next for Max?
More of this amazing journey.  Follow along and you'll see.   Same Max time, same Max channel.

1 comment:

Elizabeth said...

It's all so wild. I almost can't handle it all at once, so I can imagine how you must feel!