Our last clinic visit was May 3rd. We left there completely numb. It’s taken me a while 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 Sarepta to reinstate the Exon 51 Skipping Clinical Trial.
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. Well Peyton’s mutation is a deletion of Exon 45-50. The very first clinical trial that is making a difference in DMD kids is Exon 51 skipping. Basically the drug “skips” exon 51 so that in Peyton’s case, Exon 44 attaches to exon 52. All I know is that your exons have to remain in groups of 3 so the tail of one has to connect to the head of the other, hence 44 and 52. This is how I understand it.
When we met with our Doctors to discuss treatment they were very perplexed. It seems that Peyton’s DNA and RNA are not matching up. His DNA (according to the genetic testing) states that he is missing exons 45-50. Classic DMD and not Becker Muscular Dystrophy as we had believed. We couldn’t understand why all along it seemed he was producing Dystrophin so we had our clinic at UCLA test a piece of extra muscle we had removed during his biopsy. Seems that this test showed a different exon sequencing in his RNA. This showed that his RNA (not DNA) was expressing dystrophin in exon 1-44…ok…that in itself wasn’t a huge deal but what came next was. Exon 44 was connected to a RANDOM exon. An unidentified exon. What does that mean? Well a lot. Scientifically a lot more to the Doctors that it did to us. All we heard was that Exon 51 skipping might not work as Exon 44 is ALREADY ATTACHED to an exon. The random would have to be removed then 51 skipped for exon 51 skipping to work on him. Ethan and I are realistic enough to know that 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 he seems so mild.
We made the decision to have his DNA and RNA tested again through both the lab in Utah and UCLA. So after our poor boy had already given 5 viles of blood, he gave 4 more. 2 for Utah 2 for UCLA. My brave, brave boy!
And we wait…
(note: we got some of the results today but we need further analysis and I am not ready to share quite yet. It always takes me a bit to process the information. )
As always, thank you for your continued support.