Hello, I am Raquel Omedes, Daniela’s mother, a 6-year-old warrior who fights against a rare disease called Dravet Syndrome and Delegate in Catalonia of the association ApoyoDravet. Today I want to tell you a little bit about what Dravet syndrome has meant to my family and me.
Daniela was born on Tuesday, May 13, 2014, she was a child apparently healthy and very loved and dreamed of by us and her sister, everything seemed to be going well. At last, we had managed to create our family of 4… Until on December 9, 2014, the first epileptic seizure appeared, there were 4 days left for Daniela to make her 7 months of life. It was 4:30 in the morning when we were all asleep when a strange noise woke us up, it was like restless breathing. I thought it was a dream, but no! It was the beginning of the worst nightmare we were going to have. We didn’t know what was happening. We’d never seen anyone convulse before, it was all chaos, panic, terror… I think it was the first time I saw my husband cry!
We ran to the hospital, I, with Daniela in my arms, told David that this was not good, it was not normal, something serious was happening to our little girl. I remember on the way to the hospital, Gisela (her sister) with just 5 years, she told me… “don’t worry mom, she will be fine” (she consoled me!!!). When we arrived there were nurses at the door to whom I asked for help and when they saw the state that Daniela was arriving they tore her from my arms and I only saw doctors running. “How long has she been like this?”, I don’t know, we were sleeping but since we figured it out until now it must have been almost an hour.
In the box there was no way to stop the seizure, I asked them to please save my little girl and they said “we’re doing our best, Mam!” At that moment I thought I was losing her, so I stood next to her and kissed her goodbye (it was the greatest pain I had ever experienced in my life). They finally managed to stabilize her! I think that the crisis lasted for about an hour and 15 minutes. That was our first take, the first of many more to come. I remember they ran tests and more tests – a tac, an EEG, blood tests – everything went perfectly. “It was an atypical febrile seizure because of the length of time the seizure lasted and because she seized only on the right side, but it will most likely not happen again. 4 days later it was repeated, and at 8 days, and 12 and 16… 21… to never stop again.
Then came the pilgrimage of doctors to find out what was happening to Daniela, was it epilepsy? The doctors told us it wasn’t! It must be atypical febrile seizures, febrile plus seizures… but why? Why does she convulse with fever? Why is it that, as soon as the first speck appears, she convulses? The specialists didn’t know what to say to all the questions (if they didn’t know, imagine how scared we were to know what kind of problem we were dealing with). We’d been like this for a year and didn’t know what was wrong with Daniela…
Until one day I did what the doctors told you not to do!!! I looked it up online. I saw a lot of weird names, lots of syndromes, I don’t know how many diseases… Until I found something that matched what was happening to my princess, several of the symptoms she had!!! Dravet’s Syndrome!!! I don’t know why, but the name of that syndrome was burned into my memory, so it was time to ask the specialists who were treating Daniela.
Could it be Dravet Syndrome? No, Daniela doesn’t fit Dravet’s Syndrome, but we’re gonna do a genetic test to rule it out. After 8 very long months, we had the result of the genetic test, the neuro pediatrician who was treating Daniela at that time gave us the result… She opened that envelope and with a smile from ear to ear told us… It did come out that she has a mutation in the SCN1A gene. The way they gave us the news tore us apart, I had to tell him that, please, they weren’t telling us he had bronchitis! Anyway, I think it was basically a lack of empathy.
What we were very clear about was that we had finally given a name to what was happening to Daniela, after two very long years we were giving her a name and a surname! It was hard, very hard, your world is falling apart, suddenly everything that we had dreamed of and had managed to build fell apart like a house of cards, I had to throw myself into Daniela and everything that comes with illness, therapies, doctors… One day a neurologist, another nutritionist, a pneumologist, a speech therapist, a physiotherapist… I had to give up my working life to throw myself into it, into her and Gisela. Gisela had a great desire to have a sister, she imagined herself playing with her, sleeping together in the same room, fighting over toys… Like we all have done with our brothers! Of course, they play! They play, laugh, cry, fight… But it’s not what Gisela dreamed of or what we dreamed of as parents, but Gisela always knows how to get a smile out of Daniela and vice versa, they have a passion for each other.
But putting a name to the disease, no matter how much it hurts, is very important. The moment you know what you are facing, you see that you are not alone, that there are families who are going through the same as you or even worse! What made me keep my strength and start seeing the light was to talk to other families who were living the same as me. I started researching and investigating and I was very lucky to find ApoyoDravet, they helped us from the first minute and they gave us hope! Being able to be involved in one way or another in trying to find a drug, a device that will make Daniela and all the children and adults living with Dravet syndrome, or other epilepsies, able to have the best quality of life possible is what gives me energy. To be able to build visibility and fundraising events in order to continue with the research of Dravet Syndrome, knowing that I am doing something for her is what keeps me fighting. I cannot cure her, it is not in my power (I wish it was) but I can be a part of finding a drug that controls the crises or, why not, even THE CURE.
