We don't have any familiar relationship.
We have a 4 year old girl called Isabella, and she is a healthy and normal girl. Actually she is ending her first
year at school.
Our second daughter is called Sofia and she was born the 23rd of February of 2001. Sofia's pregnancy was normal,
she was born at time and in perfect conditions. Her life went on 'normally'. We (Carlos and me) work during the
day, and meanwhile both of our daughters remain home under the care of people in whom we trust.
Sofía kept growing and what is expected to a 4 month baby's development she was reaching the development '
At the month of June Sofia had an illness that afected her gastrointestinal system: she suffer of a very long
period with diarrhoea, and from those days, we started noticing in her few and very sharp changes and backing down her development. We stared noticing that she cries easily when se was dressed, when she was held in arms, and even when we touched any part of her body. She started showing dificulties with her eyes fixing, to the point that she have her expression absent just as if she wasn't focusing. We noticed that very day she laughs less, and I started feeling that we where taking about something else than a viral process. Weeks were going through, when finally in August I had a very strong feeling that something was going wrong.
I remember it was a Friday night in August when I felt the very strongh need to talk with someone, and I went
upstairs, where Jorge (my daughter's pediatrician and her wife) live. We where at the family room with Sofia.
Jorge started evaluating Sofia and we try to resume all what we saw on her development. Next day, we met Jorge
at the emergency service of Fundación Valle del Líli (www.clinicalili.org) , a private hospital with no profit
aim with very high speciality that we have in the region, so we could take her a Brain CAT.
That day we had the most dramatic change in our entire life: the Brain CAT results put us at the doors of a very
big abyss. An abyss that confiirmed what I was suspecting as mother, and we found some results that were only the
starting point of this winding path of 10 months. After all the exams we took her: we were every minute more
surprised and less strongh to face it. Time have been going on while we do lots of exams to Sofy. Doctor Gloria
Saavedra, who was the team leader of the Nueropediatrician searching, was the person who talked us about the
posibility of approach to the Aicardi-goutieres Syndrome. She is Neuro-Pediatrician, and she put us in contact
with Professeur Lebon and who finally did the diagnosis to Sofy.
In this desperated search to find a diagnosis and treatment to our baby, we have looked many and variated opinions
about her illness going from the traditional medicine to alternative ones. We have learned and we have consulted many neurologist, neuropediatricians, and else.
The most important test results are:
Brain CAT - moderated atrophic changes werw found at parietal, occipital and temporal lobe.
Brain RNM with angiography: atrophic compromise at parietal, occipital and temporal lobe were found with
compromise of the white substance. A small compromise of the right side is insinuated.
EEG- presence of difuse lentification specially at the left side without being any epileptic discharges.
Somato-senorials Potentials. Absence of registration on the compromited side and lower in the opposite.
Reuslts on later tests:
Brain CAT with calcifitaions in the basal ganglios.
Positive results of the interferon alpha done by Pr. Lebon, in France.
This diagnosis of aicardi-guotieres was done to Sofy some weeks ago. When the posibility of facing a AGS appeared,
we started searching the web and every time we read about this rare illness we felt that she was closer and
closer to this kind of children. She has many of the symptoms described there.
Just as you all can imagine at this recent diagnosis period, we are facing a very hard moment in the path: we are
feeling very sad and depressed; many questions without concrete answers, many doubts, many ideas...
We want to support this program in what information is needed, we would do whatever we can, we want to share and
contribute information to the investigation so we can do big approaches in this rare and cruel illness.
What we can share about costs, this had been a very hard moment because Sofia rehabilitation program had demanded
economics goals very hards. Rigth now I m working part time so I can attend Sofia's rehabilitation, but it need
Our needs are finding support from families and try to offer this support when this pain let us the courage of
At this time we send you all a very charmy and fraternal hug to all those parents that are going through this and
lots of kisses to all those childrens that are living this illness.