Charlotte truly is 1 in a million. I have the genetic tests to prove it.

As May 9^th approached, I was looking forward to celebrating Charlotte being 1 month seizure free. Last month, so much had happened, we were exhausted. We had 2 seizures and went to Le Bonheur, there was also a friend’s wedding thrown into the mix and Case had a race. Our follow-up visit with Dr. Fulton went without a hitch, and all was well. We even happen to visit on the day that Disney was giving away free toys to all kids in the “Magic Room”. Charlotte and Papaw went and got a doll and a basketball goal and 2 balls! Charlotte loves balls. Thank you so much Disney for your toy give-a-ways, when you have a sick whiny kid, it really does mean a lot to us to give them something to look forward to, it gives our kids something to help take their mind off the medical procedures going on. We go back home and life is good and is chugging along. May 24^th passes, and again, we are seizure free! There was a small scare for about 2 days, but a new prescription to help calm C down and some Motrin to help with any POSSIBLE fevers, and we got over that small hump. Then, on Friday June 7^th, I get a phone call from Dr. Fulton. HE called me personally, not the nurse.

On Fridays, I usually don’t leave work until after 5pm. I am often trying to make up time for earlier in the week and I am extremely exhausted from staying up late and getting up early. The joke around the house is “you can sleep in on the weekend”, except that doesn’t happen either because someone has to get up and keep the baby on her usual 7am medication schedule. On this particular Friday, I am walking out the door from work about 4:45, and as I am leaving I see that I had JUST missed a phone call. It had a 901 area code so I knew it was from Memphis. I call them back to see who called and what they needed, Dr. Fulton answered. “Gena, I am so glad you called me back. How is Charlotte doing?” I tell him how great she is doing and all the new words she has picked up. I also thank him for calling to check in on us, it is really impressive for the Doctor to call us to talk. He then tells me he wants to discuss the results of Charlotte’s genetic testing. Wait, what? I thought we were done with all of that, I thought we were out of the woods and in the clear? WHAT GENETIC TESTING? I thought all of our results were in. My world of ignorant bliss is shattered in this moment. I am devastated and it ranks right up there with the moment that our nurse walked into our hospital room and told me that they admitted my new born baby to NICU. As soon as the door shut behind her, I squalled. As soon as I hung up the phone with Dr. Fulton, I squalled and drive the long way home trying to find my composure. 

I am still not sure what to tell people. I have mixed feelings about all of this. 

Here are the facts. Charlotte has a frameshift mutation on Chromosome 2 of her SCN1A gene (I have the SPECIFIC location but most of you aren’t interested in that). This gene codes for the proteins in her cells that help to regulate the action potential of her brain cells, specifically sodium.  Your brain works by using little bitty electrical charges. These charges are generated from the charges on specific ions: Sodium, Potassium are 2 popular ones that our brains like to use. When you get an EEG, these little electrical charges are what they are measuring. In normal healthy people, there are proteins in the membranes of our brain cells that regulate these charges, similar to a gate. When needed the allow the charges to come in and out. Charlotte is missing some of these little protein gates in her cell’s membranes. Without these little Sodium gates to regulate the charges in her brain, the charges go haywire and you she gets an electrical “storm” in her brain (a seizure).  She is actually the only person ever tested to have THIS specific mutation. This is known as a “Sodium Channel deletion”. Case and I are going to have the same genetic study done to see if either of us have this same mutation. I PRAY one of us does. If we do, that means a better outcome for Charlotte. If neither of us does, and this mutation is hers alone, the Doctors don’t even know what to tell us. Right now, they can only compare her to children with a similar mutation when gauging her outcome. Those children range from normal with occasional febrile (seizures associated with fevers) seizures, to the kids you see in wheelchairs staring off into space(profoundly disabled having 100’s of seizures a day which medication can’t control). The fact that she is responding to her first line medications is a BIG plus for her future outcome. The fact that she is so far advanced from some of her peers is also a good indicator of a positive future outcome (she already says about 30 words, at 10mo old). The fact that she is learning new things every day is a good indicator of a positive future outcome (she understand the concepts of puzzles although she doesn’t always get them right. She knows where her hair is, eyes, ears ,nose and mouth.). The more days we can go being seizure free, the more seizure free days we will have and the better her outcome (likewise, the more seizures she has, the more she will continue to have and a poor outcome will result). Should her seizure pattern change or she continue to have seizures through her medication that will not be  good news. The possibility remains for her to have developmental delays because she is having too many seizures. So we have to stay on top of her development and keep her learning as much as she can, as quickly as she can. The possibility exists for her to grow out of this, or really; just adapt better. It isn't very likely. For now, these results don't change her diagnosis (Benign Myoclonic Infantile Epilepsy). She will be a candidate for gene therapy, when it becomes available. There are some promising things going on with Muscular Dystrophy and gene therapy, but they currently aren't doing much in the way of Epilepsy. She will be grown before that will be a serious consideration. That is about all we know until we return to Memphis on July 22. Those are the facts, the good and the bad. The facts are far simpler than the emotions this stirs. 

From this point on, my emotions go absolutely crazy.

I now have exactly what I was looking for, a cause. I always imagined that I would feel relieved after finding our cause for her seizures, I am FAR from relieved. I spend every moment of what little free time I have researching what this all means. When I got off the phone with Dr. Fulton, he asked me if I had any questions and I said no, I told him I would later after the new sunk in and I would call him back. A week goes by and I look up and familiarize myself with everything there is to know about SCN1A gene mutations. The week after that I spend in a physically sick state of depression. I read all of the horror stories on the internet, just as Dr. Fulton had instructed me NOT to do. All of this information encompasses me. Story after story of kids that were “perfectly normal until their 2^nd Birthday”, I am sick. Kids that have passed away from SUDEP (sudden unexpected death in epelipsy) nocturnal seizures. My relationships suffer. My productivity at work suffers. My marriage suffers and last but not least, my relationship with my own daughter begins to suffer. How sad is it that I am so hung up on these test results that I am having a hard time enjoying the good moments that I have with my baby. I can’t enjoy them for the fear that they may be my last good moments that I have with her. I cry every single day, for 2 weeks straight. I am already grieving a future that is only probable (how silly). I grieve the daughter I wanted: sleep overs, swimming parties, river days, vacations, prom, dates, dances, college, marriage, and grandchildren; verses the one I have which complicates all of these things, if they are even possible. I grieve these things, and at the same time beat myself up for feeling this way, how horribly selfish of me. I am embarrassed for myself. It isn’t like Charlotte can help the way she is. She is what she is, and in the words of Lady Gaga, she was “born this way”. I feel bad for feeling this way, I am ashamed but still very sad. It is really weird feeling.  I go a read up about these kinds of things and realize I am normal, many special needs parents go through these same feelings. I am not alone, that helps but isn’t a cure for my own sadness. I contact our nurse to set up a phone conference with Dr. Fulton. I am armed with a long list of questions; none of which I actually ask him once he returns my call. I am just short of breaking down into tears when he calls me back. I waited all day, forgoing lunch and even waiting as long as possible between bathroom breaks.  I apologize for taking up his time to call a worked up mom who did exactly what he had told me not to do, I read the internet. I toss all of my questions to the side and I tell him, “Please tell me the good things about Charlotte. Tell me how amazing she is and how she is far superior to some of your other more handicapped patients. I did what you told me not to do, I read the internet and I now have one of Charlotte’s feet buried in her grave. I am sorry, I need your help.” He chuckles, but he takes me seriously, he goes on to tell me basically everything I already know (good and bad), but it just seems different hearing it from the expert. He leaves me with “she is doing well, but we still just don’t know. So long as she keeps on doing well, and her seizure patterns don’t change, life is good”. I am now content. I go home that day and take Charlotte out to eat. She loves going out to eat, she loves seeing all of the other families and the different atmosphere. We have a great time. We follow it up with having fun all weekend. I gather myself up enough to realize that nothing else matters than her happiness. Sickness or health, so long as she is happy, all is well. I can’t do anything to stop the seizures, but I can make her happy. Thank god for my Daddy. He finally pulled me off to the side and gave me a big hug, I sobbed my eyes out on his shoulder. It was father’s day, I was supposed to be his support, not the other way around.  This was exactly what I needed this whole time, someone to hug me while I just let it all out. I am not a big touchy feely person, but every so often, I just need a hug and cry too. 

I am still unsure what to say about this publically, if I should say anything at all. I have told most of the family by now, but I am still not sure what I want to say to my friends. Nothing is “official” until it is “Facebook” official, so I haven’t mentioned it publically yet. Silly to say that on a public blog, but so few people read this, I am betting that only the people who are truly interested in Charlotte are still reading this blog at this point anyways. Do I announce my daughter’s difference at the top of my lungs so everyone knows, what are the implications of that? Not everyone is as accepting as others and people may treat her differently if they know she is different. On the other hand, I don’t want to keep Charlotte’s condition a secret either. I don’t want her to ever feel like the way she is something that needs to be hidden. I think she would be a great example for others with children going through a similar situation, and being an example of Epilepsy could help raise awareness locally. Our family loves Charlotte no matter what, but the rest of the world isn’t always so forgiving. If we announce her condition from the tree tops, will people be afraid to spend time with her, and be her friend. Sadly, yes. I would be lying if I didn’t say there were moments when I was afraid of my next moments alone with her. WHAT IF SHE HAS A SEIZURE? Other people will feel the exact same way. HA…..well isn’t this funny. It sounds just like the thoughts and feelings our family might have if Charlotte came to us and told us she was gay. I think I will take a lesson from the gay people I know , and follow what they have taught me. The gay people that walk around with a sign tattooed on their head that says “I’M GAY, LOOK AT ME, I AM DIFFERENT, BUT I STILL EXPECT YOU TO NOT ACT LIKE I AM DIFFERENT, BUT I AM” seriously annoy me. Why does your sexual orientation need to be my business? I don’t care. On the other hand, the people that I know that are gay but are living their lives like they have some horrible secret to hide, are just really sad. You can’t even ask them about it. I think I am going to take the same approach with Charlotte, at least until she is old enough to decide how she would like to handle her difference. I am not planning on parading around with a sign tattooed on my head that says “MY DAUGHTER IS DIFFERENT, HER RECORD SOMETIMES SKIPS”.; but if people who are interested ask, I will tell them what is going on. I think that is a good decision for now. 

I still have mixed emotions and feelings. Being a planner, asking me to “just live for today” does not compute. I can’t help but worry about what Charlotte’s future holds. I try not to think about it and instead focus on teaching her something new, EVERY DAY! Some days are great, some are very challenging. Just yesterday she had 4 small seizures; but it was past her nap time, and I have a feeling these new molars coming in are giving her a harder time.  I can’t help but worry. I really hate giving my baby all these medications, but our alternative is worse. I imagine I will do battle with myself about this for a very long long time; maybe even the rest of my life.