Friday, May 11, 2012

One in a million? Nope. More like one in billions.

So, we reported a month or so ago that we found out that Elinor has a "fairly unique mutation" of the Rett gene.  We had to wait weeks until we could get an appointment with her geneticist to discuss anything further.  This week we finally got to go up to Primary Children's and visit with her doctor.  As it turns out- when Dr. Carey says "rather unique" he isn't kidding around.  Her variant of rett (which occurs in the MECP2 gene) is labeled c.695dupG and apparently there is only one other case in the world.  He found one match in the database at the International Rett Syndrome Foundation, and found this case mentioned in a science article about the spectrum of Rett disorders in New Zealand.  So that is where the other girl resides.  I say girl, because this syndrome affects the x chromosome, so it is almost exclusively a condition for girls, and I say "case" because there is absolutely no info on this person (child?)  The article was written in 2009, so the youngest this person would be is about 5, but they could be like 40 too.  Who knows.  I do know that I am going to try my hardest to find this family, I would love to see how this girl is doing, and how she grows up, and what she can do and everything about her!  Now that I know there is only one case like Elles, I feel a tie to this other girl and would love to be able to contact them.  Dr. Carey is going to write to the author and see what he can find out.  I am going to patrol around the online Rett community and see what I can do.  I imagine they would be curious to know that Elle is out there too.

Anyway- because of the rarity, we can't really say for sure what Elinor's future holds.  On one hand it's nice to have a group of girls that have the same thing that have been studied, so you can project the future a little.  On the other hand- with Elle, the sky is the limit!  She gets to write her own future.  She gets to tell us what she is going to do and how many words she will say and when (not if) she walks.  We are going to write the book on what this unique little rett variant is capable of.  We are excited and hopeful and know this little girl is very special.  It was a lot of trouble for her little egg self to do the stuff it did to turn itself into the cute little one of a kind (almost) baby it did, so I know it was meant to be.  She is the person she needs to be on this earth and we are so loving the crazy little happy thing that she is.  I've been telling people for a long time now that whatever she has, it's a pretty good version of it.  I was right, I also started saying that she has "Elinor Syndrome" and I was kind of right about that too. 

I am also kind of excited about the possibility of maybe having an excuse to travel to New Zealand someday.  Thanks Elle- glad your double isn't in Detroit or something (just kidding- I don't mean to hate on Detroit or anything, I just have always wanted to go to New Zealand- it's always seemed so interesting and exotic.)