Missense Mutations

It's funny how you can put things on Facebook, but forget to put them here.
Remember these guys? I can still sing the theme song.For medical record, we got the results of the genetic testing back for Brian and I. It seems that I have the exact SCN1A mutation that Cole does. Unfortunately, we don't get cool special powers to transform into lean, green, fighting machines. Now, what does that mean in real life?

I do not have Dravet Syndrome. It is a spectrum disorder, as is epilepsy; meaning that everyone is affected differently. I could have something called Generalized Epilepsy with Febrile Seizures Plus (GEFS+). Cole still has Dravet. He fits the clinical diagnosis, as well as having the mutation. I do not.

Here is the Readers Digest version of an incredible presentation given by a friend of ours that helped us to understand our lab report more:
Each base pair of a gene is made up of a bunch of codons, each with three letters. For example, GAG. These letters make up a code to send to the body to make amino acids. Each base codon can be seen as a bead in a necklace. If one is out of order, no one will want to buy the necklace. The color and pattern has to be just right, or there is a "mutation". There are different kinds of mutations, ours is called a Missense mutation. The letter G was replaced with an A making the necklace change. Instead of creating Glutamic Acid, it started to make Lysine (AAG). A really short version of a really complicated detail. Our SCN1A necklace is broken. Obviously, it affects us each differently. The wikipedia version is here.

How does this change things? Most kids with Dravet have something called a De Novo (new) mutation. It is not inherited from either parent. This, is not the case with Cole. Having seen how the mutation can work differently in two different people, it is still not the end all be all. Like I mentioned before, Dravet is more of a clinical diagnosis. The mutation just confirms it. It is safe to say that with ME having this mutation, there is a 50% chance that we could have our next child have this mutation-most likely with some type of seizure disorder. The same goes for each pregnancy since I have the mutation and Brian does not. We do know that there are at least 6 families out there that have two children with Dravet Syndrome. Something that we would knowingly not want. So how do we plan for the future?

We could undergo something called Preimplantation Genetic Diagnosis (PGD). We could create an embryo, just like regular Invitro Fertilization (IVF), and test it before implantation to make sure that it has Brian's good SCN1A gene. This is very expensive and time consuming. Plus, you can never be sure that you won't have a child without seizures, as there are other genes involved and many more yet to be discovered. The field of genetics changes everyday, and they still don't know a lot about epilepsy in general. However, PGD is an amazing resource and can help to avoid a host of genetic diseases. All those who do it have had someone in their family affected tragically by some genetic disease or illness and, obviously, do not want the same for their child.

We could try and get an egg donor, and have a child that is biologically Brian's, but not biologically mine. I could still carry the pregnancy, after IVF, but the baby's DNA would not match mine.

We could always adopt. I know there are many mothers out there who feel their adopted children were theirs in the first place, they just came to them in a different way.

This is a lot to think about. We are not jumping on any of these trains anytime soon. As Cole takes the majority of our energy anyway; adding someone else to the mix right now might just be plain craziness :) We're grateful that we have a diagnosis early. A lot of parents had to wait for years, to find a name for what was happening with their child (hello, Kent and Tami!). It is funny to be able to shake my head and say, "THAT'S why I do this!" for certain things. Being freezing cold at all times, having a regular low body temperature (around 96.4 for normal), blue fingernails, cold hands and feet, sensitivity to the sun-not just because I wear contacts! All of things can be related to sodium channels. Crazy, huh? We just thought I was weird! Okay, so I am kind of weird; but it is nice to know that because of some random thing happening with some random gene-I feel or act this certain way. Science is incredible.

We met with the genetics team at Primary yesterday. They confirmed everything and let us ask a lot of questions. The incredible doctors gave us options for our future, but ultimately the decision is ours. If we pursue more genetic tests for Cole, it is going to get expensive and they do not feel that there is something secondary going on besides Dravet Syndrome. At least something worth a whole bunch of money and a whole bunch of blood. It is still an option for the future, especially if we are participating in research, but it is not practical to do tests right now that are not going to change our diagnosis or the way we move forward with treatment.

So, we forge ahead with some new knowledge. I probably have a name for something after 30 years. Cole still has Dravet. We have at least three options for more children in the future. Well, four, if you count the good ol' fashioned way ;) We might not have special skills with nunchucks, but we do have more information.