Victoria was born on September 24, 2017 at 7:45 p.m. at the Puerto Montt Hospital in Chile. She was born at 40 weeks gestation, experienced a normal delivery without any complications. A few days later we were discharged and we went home thinking that everything was normal.
Two weeks passed and Victoria began to have seizures. When I realised that they were epileptic seizures, I decided to make a video recording and immediately showed the video to the neurologist, Dr Alexander Peter,
who examined Victoria shortly after her birth when it was noticed that her head circumference was one centimeter below normal (this figure was not of concern at the time as Victoria's height and weight were in the normal range). The video was seen by more than two neurologists who concluded that Victoria was definitely having epileptic seizures. The next morning Victoria was hospitalised and in the afternoon the first electroencephalogram (EEG) was carried out, which detected up to four seizures in the span of an hour.
Victoria was immediately transferred to the ICU where she was started on an anticonvulsant called phenobarbital. After a week without observing new seizures, we were discharged and returned home.
Two days later, the seizures returned and we had to go to the hospital again; this time the neurologist added a second anti-epileptic drug called levetiracetam and we were able to go home for a short time.
The next few months we spent going back and forth to the hospital until Victoria was 6 months old. At 4 months our doctors detected a pulmonary micro-aspiration and decided to introduce a nasogastric tube to prevent the aspiration from worsening and after a month they performed a gastrostomy. At the same time, the geneticists decided to carry out a genetic test where it was discovered that Victoria had a very rare genetic mutation that affects the WWOX gene located on chromosome 16.
We knew that Victoria´s case was the only one in Chile and that there was no treatment or cure for this genetic condition, but I also knew at that moment that nothing was going to bring us down and that I was going to get ahead with my daughter.
We had a long stay in the hospital and during this period we received the support of a physiotherapist, physiatrist and other therapists who helped me with Victoria's care.
Victoria did not have any head control so our doctors did not have high expectations, they said that no medication was going to help improve this situation. Victoria has taken many different anti-epileptic medications and for the last two years she has been on phenobarbital, levetiracetam and pyridoxine, which have decreased the intensity of the seizures and in some way have helped to improve her psychomotor ability.
Victoria has been fighting this condition for 3 years now. Today she can walk with the help of someone holding her hands, she can pass a toy from one hand to another, knows how to play hide-and-seek and laughs all day. She can also say a few words, she knows who the people around her are, sometimes she tends to eat through her little mouth and every time she learns more things that surprise us!.
Today we continue to fight this disease, getting ahead and telling the doctors that she is braver than they thought.