Spotlight on AHC Champion Eva (Chile)

Spotlight on AHC Champion Eva (Chile)

AHC Champion EvaRight after birth Eva had some severe fits of crying which worried the doctors, but after a few extra days in the neo department, we were sent home with the diagnosis laringomalasia. She kept having these fits of crying over the next few months, and at three months old she had her first episode with stiffness and nystagmus. We got worried because we were planning to travel by airplane and did not know if it was safe to do so, if she had some sort of condition. We went to see a neurologist. He sent us for a routine EEG which showed normal activity, so he asked us to film the next episode.

We did that when she was four months old and went directly to the ER. The neurologist, who saw her, became our neurologist from that day on. She based her diagnosis on the video and an episode Eva had in the ER room: epilepsy. She was hospitalized and they did an EEG, which again showed normal activity. Even so the diagnosis was the same and she started taking anti-convulsive medication. Over the next months, her attacks became worse and she was hospitalised sometimes more than once a month. She was up to 5 different drugs and a lot of tests that came back negative. She began having paralysis after the attacks. We got seriously worried when she got paralyzed without prior warning at 8 months. When she was ten months, out of desperation to find out what the real diagnosis was, we decided to change doctor, and that was when our neurologist said AHC.

At first we did not want to study what that was, but finally we did. And all the symptoms fitted what we were experiencing. It was a horrible, horrible moment. Since I’m Danish and the condition was unknown in Chile according to our neurologist, I travelled to Denmark with Eva right before her first birthday. The specialist there saw us, did a gene test and unfortunately confirmed the diagnosis. Our world fell apart. Eva’s father was back home in Chile because he had to work. We decided I stay some month in Denmark until she was well into the Flunaricine treatment. She started physical therapy because she still did not crawl very well and could not get up on her feet by herself. We realized she had been completely doped by the anticonvulsant drugs and she became a completely different child – much more awake and connected. She started improving her physical skills little by little. I saw different alternative doctors and started her on coconut oil and some special exercises and vitamins, no gluten and no milk products. We kept that for a long time but did not really see any improvement, so now she eats normally but drinks no milk.

Even though we were receiving excellent treatment I n Denmark, we decided to go back to Chile so we could be together all three of us. It was a very good decision. In Chile we were received in a rehabilitation centre called Teleton, and they have supported us ever since in every aspect, both parents and child. She mainly does physiotherapy and speech therapy. We also have a private physiotherapist and private speech therapist.

What I recall is that Eva has learned absolutely all her physical skills with therapy, from sitting up, to crawling, to getting up on her feed and walking at age 2.5. It was such a big day!!!! And only two months before her baby sister was bornJ

She is now almost five. Right now her episodes are mainly one-sided paralysis every two weeks for 7-10 days. She sometimes has painful dystonia but only for seconds at a time. The left side is the worst. Most days she manages to walk with a limp, but some days she is completely paralyzed and cannot even swallow – that can last up to two days. The first couple of days of an episode are the worst with almost permanent paralysis and then gradually the moments of paralysis become less and less until she is completely ok. And then we have two wonderful weeks with normal activity. Luckily we have not had to hospitalize her ever since our visit to Denmark.

She can walk, run, dance, and participate in the day care as all the other children on good days. She loves performance and dancing and she is the star of the show every time the day care arranges shows for the parents on Mother’s day, Father’s day, etc. We are very proud of her drawings and other art work. Her speech is limited, but she is very communicative. She is very unstable and her fine motor skills are weak compared to other children her age, but when I think of how limited her physical abilities were at age 1 and see her now, it is incredibly how far she has come. She is a true hero and so determined. She has the patience and perseverance to keep trying until she succeeds. She is the happiest, sweetest little girl who steels everybody’s heart.

My hopes are so high for a cure that can make every day be as on a good day. I dream of not seeing her suffer anymore. Please support us to get to the cure!!!

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