28 Sep Eva Maria’s Superhero Story
Eva Maria is a SLC13A5 Superhero. Here are a few fun facts Eva Maria’s family shared with us!
- Name: Eva Maria
- Age: 13
- Homecountry: Romania
- Eva is daring and adventurous! When on her bicycle, she ignores advice to take the smooth paths and always takes the bumpier roads! Same with swimming! She gets bored if she isn’t allowed to do jump and dive with her head under water. Eva is strong willed and adores challenges — if she wants something, she will insist until she succeeds — and then expects compliments afterwards. If you forget to give them she’ll try to remind you by applauding herself.
- She loves to be the center of attention and does anything for it – funny faces, funny sounds, puts things on her head, all the tricks in the book to make you laugh. Eva is also a good actress and uses this to get what she wants, like pretending she has a wound to be pitied and to get a KISS!
- Eva has many nicknames like Patrata (square), Lamaia (lemon), and Miezaurica (kernel)
- Eva is a fashionista! She is obsessed with clothes, watches, and shoes. Her favorite brands are Underarmour, Nike, and Adidas!
Eva Maria’s Medical Journey
Back in December of 2008, my husband and I were getting ready for our winter vacation, which it usually was the longest one in the year. In my country the winter is long and cold and I love warm and sunny places, therefore for that time we chose to go to Venezuela. A day before our departure I had my first pregnancy test ever. It came back positive, something I wished for a very long time. I was so happy, I almost couldn’t believe it, however my husband appeared a bit off, somewhat confused.
That vacation was one of the strangest we ever had as a couple, there were so many mixed emotions. My husband was quite irritable and worried and strangely enough I felt lonely. A vacation of mixed feelings, panic, arguments, reconciliations, sadness, happiness, clues, dreams, sleepless nights that I thought were all hormonal due to my pregnancy. Upon our return home my husband told me that he decided to break up with me.
After 8 years together this shocked me to the core, it was a very difficult time for me. I tried to stay strong so it wouldn’t affect my job. At that time, I had a successful career as corporate executive. My first ultrasound confirmed that I was 10 weeks pregnant and later on I found out that I was going to have a little girl!
Little by little I started to get better and be more optimistic. I started to imagine how my life would look after my baby girl was born, how we could travel together, talking about anything and everything, how we would laugh and eat cookies together, how we could dress the same. I always talked to her and listened to music while I was pregnant. Eva, my baby girl was already my best friend, the most valuable moral support and the strongest motivation. I always smiled just by thinking of her. I had an easy and beautiful pregnancy. I worked until July 31st, 2009, and nothing prepared me for what was about to happen in 4 days.
The longest day
In the sunny morning of August 4th, 2009, I drove myself to the hospital, parked my car and went inside the hospital happy and confident. Due to some personal health issues my doctors convinced me to have a C-section with general anesthesia (for many years I thought that was one of the reasons for the coming birth complications).
The delivery was very easy, Eva was born with a perfect Apgar score (10), she was very strong, with perfect height and weight. Later on, after I woke up from the anesthesia, I was able to hold and breastfeed her. She looked small, but she had long hair and an adorable face! After feeding her they took her to the nursery along with the other babies. I was so happy, I couldn’t wait for the next feeding time so I could hold her in my arms again.
Seventeen hours later, after midnight, there was a lot of commotion in the hospital hallways and the doctor came in to talk to me. Eva had her first seizures. I didn’t understand what was happening, even the doctors didn’t know the reason. They did lots of tests, EEG, MRI, genetic and metabolic tests. Everything came back normal, but it wasn’t normal, so the doctors called in Dr. Craiu, the best neurologist/seizure specialist in the country.
The following days she had more seizures. Eva was sedated the entire time and with proper medication the doctors managed to stop the seizures. After a week, I still didn’t know why it had happened, but we went home with all the medications that I needed to keep the situation under control. Two weeks later, we went back to the hospital, and Eva had been admitted to the ICU with little hope.
Searching for an answer
The first year of her life, she had many episodes of seizures and many trips to the hospital. Every time I was watching in horror when my baby’s body would get stiff and her arms and legs would move uncontrollably as if she was fighting to breathe.
I had so many sleepless nights looking for answers, reading everything possible in the medical field related to her symptoms while I went to work during the day praying to God for her to not have any seizures while I wasn’t home (she mostly had them at night). My mom moved in with me from the first day I brought Eva home and to this day (she is now 74-years-old), she is my greatest help, but she still has a hard time emotionally when Eva has seizures.
I learned to remain calm and monitor everything closely until the seizure stops. Unfortunately, one day, her seizure episode didn’t stop even when I gave her the rescue medication…she had her first life threatening seizure for 45 minutes. I was desperate, after 10 months with still no diagnosis. The doctors were very good, but the hospitals were in poor condition (and still are), so I decided to look for answers in Vienna, Austria. After many tests she still had seizures. I also tried Dubai and Turkey, but still no answer so I started to accept the situation and think of what to do next.
The Diagnosis – liberating or not?
While in Dubai, Eva went to a center for acute rehabilitation where she had 4 hours a day of Physical Therapy, vs. in Romania where she only had 4 hours every week. Her progress was tremendous, she was able to sit up for the first time in her life and walk while holding a bar. Therefore I realized that regular PT is more important than searching for the actual diagnosis, so I put all my efforts into rehabilitation.
Upon returning to Romania, I diversified her therapy (psychotherapy, OT, logotherapy) and increased the number of hours per week. We started going to a private center with other kids with similar conditions.
She still had seizures every month, or sometimes even daily or multiple times a day, but we kept it under control with her medication. It was a way of life for us. We continued our visits to the neurologist as well, and at the beginning of 2014 the doctor told us that she participated at a conference about genetic seizures, SLC13A5 in particular. She told me this because she observed some similarities with Eva’s condition and asked me if I was willing to test. So all 3 of us (Eva, myself and her father) tested positive, therefore we finally got a diagnosis!
Living with SLC13A5
While everything seemed hard to imagine for us, it became a way of life. During all of this time, I put all my efforts and resources into her rehabilitation and to keep her in the best possible shape. Since 2014, I gave up my career and I became a freelancer, taking small projects so I can spend as much time as possible with Eva, even though it is very stressful at times being a single mother and not having a revenue at all times. She is homeschooled, but it is a struggle, because in Romania there are not too many therapists and special ed teachers or proper rehab centers comparing to other European countries. Our government doesn’t offer any help for people with disabilities, and there is no special education for them.
Eva continued to have seizures until January 2018. While she continues to have other symptoms of SLC13A5 Epilepsy, for the past 4 years and 9 months, she has been seizure free.
Two years ago in 2020 we found an amazing therapist, a real magician if I may say, who showed us that anything is possible. Since then, he is my daughter’s personal therapist and because of him, she made huge progress, she exercises a few hours every day and she is always looking for new challenges. Even though she is not walking by herself, this summer she was able to swim alone for a long time in the sea and I truly believe in her, she is absolutely amazing! In a few weeks, she will have a big surgery that will allow her to walk without help and we are looking forward to that!
I will never stop hoping that one day there will be a cure for her condition! I believe in her with all my heart!