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Esther’s story (born 2009)

Esther was born full term on the April 25, 2009 at 16:15,  she weighed 2.69 kgs and measured 45 cm. My pregnancy was normal with extra monitoring as the babies growth was slow.

She was exclusively breast fed for the first 5 months. At 11 months she contracted bronchiolitis. She has always eaten well but gained very little weight.

Esther has followed the growth curve (weight, height and head circumference) -3 percentile until last year when she was in the 2nd percentile.

Esther enjoys fresh vegetables, meat and fish. She loves food with strong flavors although she does not like fruit.

Initially she slept very little but from five months she began to sleep more and now is a great sleepyhead (minimum 10 hours) sleep.

At 6 months she was not sitting so we began to stimulate and strengthen her motor skills at home and in the daycare she attended from 5 months.

In October 2011 she had her first seizure which resulted in an ICU admission and a long hospital stay began. The first EEG was pathological and other tests (CT, MRI, lumbar puncture, blood) came back normal. She left the hospital with anti-epileptic medication and diagnosis of developmental delay and febrile seizures.

In December of that year we went to a center for early intervention. After evaluating Esther, she began early stimulation and physiotherapy.

She started walking at 19/20 months (weighing 8 kg) but before hospital admission already stood up and walked clutching a finger.

In February 2012 the anti-epileptic medication was withdrawn. Then in June, after rising fever, and convulsions Esther was again admitted to ICU. She left with the same anti-epileptic medication which still takes today.

Since the first visits to neurology, endocrinology and rare diseases. The tests conducted have always come back normal.

After several visits and not having a clear diagnosis we requested a second opinion. Thus we arrive at the service of genetics HU La Paz, for which I will always be grateful. May 20, 2014 we went to his inquiry and came up with a clinical diagnosis for Esther and a new light in our lives.

On September 22nd 2014 the geneticist called to report that he had received the results of genetic testing and confirmed that Esther has Nicolaides Baraitser  syndrome.

Esther has attended a special education school specifically for children with epilepsy since the age of three years. She receives physiotherapy support and speech therapy.

This year we have tried to stimulate her communication and social interaction. She goes to music therapy, a therapeutic dance program, swimming and horse therapy. She likes all animals but loves in a special way the horses.

Esther is a very happy and loving girl, sometimes stubborn and headstrong. She is very bold and daring, loves all animals and is not afraid, while very cautious and observant.

She does not have oral language or bowel control and is beginning to feed herself. She makes herself understood with gestures and sounds.

She has eyes capable of moving mountains and a smile that can light the darkest night.

esther footerThis story was translated from Spanish to English.