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Peyton's one of a kind

First-Person

Posted: June 29, 2014 2:00 a.m.
Updated: June 29, 2014 2:00 a.m.

 

Our last clinic visit was May 3rd. We left there completely numb.

It’s taken me a while to process the information. We were coming off such a high.

Our families, friends and co-workers rallied behind us to get the 100,000 signatures needed for the government to take us seriously. That campaign ultimately led to the FDA working with a biopharmaceutical company to reinstate a much-needed clinical trial we thought would help Peyton.

We were actually excited for our appointment at the clinic. We were going to ask a million questions to see how Peyton could be part of this trial. We knew from his diagnosis that he was eligible.

Insert squealing brakes with smoke flying from the tires here….

Nothing with this disease goes as planned. Let me backtrack for just a second and give you a quick and very rudimentary lesson in genetics.

In our community we talk about mutations: “What mutation is your son?” It’s kind of how we connect.

We made the decision to have Peyton’s DNA and RNA tested again through both a lab in Utah and UCLA.

So after our poor boy had already given five vials of blood, he gave four more: two for Utah and two for UCLA. My brave, brave boy!

Well we thought we knew Peyton’s mutation. But when we met with our doctors to discuss treatment, they were very perplexed by the new results.

It seems that Peyton’s DNA and RNA are not matching up, and his specific kind of mutation makes him a weaker candidate for the clinical trial than we thought. Ethan and I are realistic enough to know Peyton was not going to be high on the list of drug company priorities.

What is more, if this is the case, Peyton would be the only person in the world with this genetic mutation.

The only thing I could say to the doctors was: “Well, if he’s going to have a rare disease, it might as well be really rare.”

All Logan heard was mutation and asked if Peyton was a mutant. Leave it to the older brother.

I told him that wasn’t nice and he told me: “No Mommy, in a good way, like Wolverine.”

Now, we also know this might be the reason his symptoms seem so mild.

And we wait…

 

For more information on how to help Peyton and the Marquez family, visit their website or Facebook page.

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