Hello family, friends and fellow fighters,
Today I’m going to share the story of uncovering the genetics behind our girls’ Dravet diagnoses. Before sharing our story, I wanted to share the exact gene mutation and variant my two girls and I carry- SCN1A c.980dupT. From my own research (do not quote me, I am not a doctor or geneticist), this specific variant of the SCN1A mutation is VERY commonly associated/linked to Dravet Syndrome over other epilepsies. So, how did we find out about this? Well, to start I’d like to go over a bit of my personal background with seizures. As a toddler, I had a few febrile seizures with illness and never experienced a seizure again. When making the choice to have children, I (ignorantly) never knew they could inherit anything other than childhood febrile seizures. However, as the overly anxious person I have always been, I have always been fearful of seizures/epilepsy. I always worried I would seize again or people around me would have one. Before Nova, I had seen two seizures in my life- one a little boy in my elementary class experienced during a fire drill, and one was my high school cosmetology teacher. So, while I knew what a seizure looked like, I had never seen one in a little baby before my Nova. I knew immediately what was happening and went into fight mode instantly.
Nova had her first seizure at about 6 months old. When this happened, we were told based on my history, she would likely have febrile seizures through early childhood and outgrow them. Nova then proceeded to have 3 more status tonic-clonic seizures before she was officially diagnosed with epilepsy. We did her genetic testing and got a positive for the SCN1A mutation when she was about 10 months old. Her neurologist at the time told us she for sure would have lifelong epilepsy but assured us it wasn’t Dravet because she wasn’t developmentally delayed and because her EEG’s didn’t align with a typical Dravet patient. I don’t remember if he was the one that mentioned the term Dravet Syndrome first or if I had asked about it, but either way something kept pulling at me to do more research. The more I read, the more sure I was sure that he was wrong. Towards the end of September/beginning of October 2023 an appointment we had scheduled with her neurologist was moved to another doctor. That doctor told us to expect Nova to have Dravet Syndrome. At that point, we decided to see an epileptologist in our area, who also confirmed Nova had Dravet Syndrome.
A couple weeks after Nova’s Dravet diagnosis, I found out I was pregnant with Denver. Her experiencing the same thing as Nova was something that terrified me, so when I did my 8/12 week bloodwork, they also drew labs to see if I had the same genetic mutation. I carried the SCN1A mutation, but I thought I had a different variant than Nova. This made me feel relief, and I was told the chances of having a second child with Dravet were very low.
When Denver hit 6 months old, I felt so relieved. She had been sick and she was yet to have had a seizure. I felt like the waiting was past us and we were safe. But I was wrong. In March of this year, when Denver was approximately 8 months old, she had her first seizure. Denver’s first seizure was a lot different than Nova’s first. Denney’s head just kept dropping and she was losing muscle control in her upper body. This happened repeatedly for about 15-20 minutes. Denver then had a few days of these intense clusters before having her first status seizure. As soon as she had that, they did genetic testing in the hospital. In late April, when she was 10 months old, we got the confirmation that she had the exact same mutation and variant as Nova. Because at this point she had already had a few status seizures as well, my sweet little Denney was also diagnosed with Dravet Syndrome.
When Denver was diagnosed, I still hadn’t figured out I had the same variant as the girls. I think I had avoided looking too much into the genetics of everything because I wasn’t ready to process what I would find out. After my own research (again, I’m NOT a doctor or geneticist), I found out what I thought was a different variant on my lab work was actually the same exact mutation and variant. It was written differently because my lab work was done through a different lab than Nova and Denver.
So… what exactly does this mean? Well, as I stated in the beginning, this particular variant is VERY commonly associated with Dravet Syndrome. From what I have read, any future children I have will have a 35-45% chance of having Dravet Syndrome specifically. Normally with an SCN1A mutation, it can present in so many different ways-migraines, febrile seizures, general epilepsy, or no symptoms at all. However, this particular variant is really frequently presented as Dravet. Obviously, this will all have to be confirmed through a geneticist and Will and I can then make an informed decision for our future family planning. But for now, for us, this means taking a pause. It means enjoying, loving on, and being so grateful for the beautiful daughters we do have. It means praising God for giving us this life and trusting us with these precious girls. It means finding the BEST care possible and giving these kids EVERYTHING.
Keep Fighting,
Addi EpielpsyMama
