Saturday, August 13, 2016
Reagan got a pretty good night's sleep last night. She fell asleep laying beside Daddy. When I went to hook her up to her formula, she would open her eyes for a few seconds and then close them. She woke me up around 5:30am and I then moved her to her chair. I kept it dark in hopes she would go back to sleep, but I don't think that ever happened. Her nurse got here at 7:30am and found her wide awake and laughy. She's had the crazy laughs off and on today. If you encourage it, she'll go on and on, to the point of almost tears (so we try not to encourage it). She's been pretty sensitive today to us talking and almost cried several times when we were just trying to have a conversation but forgot about her sensitivity! Oops. Excuse us, Miss Reagan! Her body is still pretty tense and crunchy. I would love to see her mellow out and loosen up soon. She's been tense for quite sometime now. So yesterday, right around 6pm I got a call from Reagan's pediatrician. Apparently some geneticist from Baylor had contacted him about Reagan's whole exome sequencing. There was a mutation that had been found that had been linked to "intellectual disability" and upon reanalysis it was mentioned that it was possibly a "damaging" mutation but neither we nor our geneticist were sure what that meant. We weren't sure what other symptoms had been found in patients with this mutation and if it could have anything to do with Reagan's health issues (which are way more concerning than her developmental delay). Well, as it turns out, this geneticist has been collecting information on several patients (4) that have this exact same mutation as Reagan c.892C>T (p.R298W) in the NACC1 gene and all of the kids had both infantile spasms/epilepsy AND cataracts. Now he wants to get more info on Reagan so he can see if there are any additional similarities that Reagan has with these other patients. So this may actually be the "cause" of all of Reagan's issues. Neither Mike nor I have this mutation (and neither does Ryan) so this is something called a de novo (new) mutation ("de novo mutations may explain genetic disorders in which an affected child has a mutation in every cell of the body but the parents do not and there's no family history of the disorder"). Now does this mean that Reagan doesn't have mitochondrial disease? Yes and no. It means that she probably does not have primary mitochondrial disease, but we know from her muscle biospy testing that she does have mitochondrial dysfunction. So at this point I think she'd be considered to have secondary mitochondrial disease. These are all things we will discuss in Sept when we have an appt with the Geneticist in Houston who is running the EPI-743 study. Of course we are going to consent to participation in this new study and hopefully we will find out more about the other kiddos that have this exact same super rare mutation.