Alexandra, the only child in Spain with an incurable syndrome that accelerates ageing

José Antonio Guerrero

Girona

Monday, 14 October 2024, 16:22

At eight years old, Alexandra Peraut is a happy, bright child who speaks five languages, is learning to play the piano and the violin, dances and sings songs by Shakira and Rosalía, devours the books in the Isadora Moon series and has taken up horse-riding.

Alexandra has a vitality that is contagious to her parents, Esther and Cédric, and although her life is like that of any other child her age, she is not an ordinary child, she is one in twenty million as she suffers from an extremely rare condition that causes accelerated ageing and which was diagnosed when she was two years old.

Alexandra lives with Hutchinson-Gilford Syndrome (popularly known as progeria), a genetic disorder with no cure and a life expectancy of around 14 to 15 years. There are just 154 children with the condition in the world and Alexandra is the only case in Spain.

To raise awareness of the illness and to promote biomedical research to find a cure and improve the quality of life of affected children, Alexandra's parents created in 2019 the Asociación Progeria Alexandra Peraut, which has helped many families in the Spanish-speaking world.

Progeria made headlines last week with the death of Italian scientist Sammy Basso, the world's longest-living person with Hutchinson-Gilford Syndrome. He had graduated in Molecular Biology because he wanted to research his own genetic disorder and defied medical expectations by reaching the age of 28 with an admirable quality of life and spirit.

Although they did not know each other personally, Alexandra and her parents (Esther Martínez, 54, from Barcelona, and Cédric Peraut, 55, from France) had many chats with Basso since Carlos López Otín, one of the leading experts on ageing, put them in touch. "Sammy was an incredible person and a point of reference for us," they say.

The Peraut family moved a few months ago from Barcelona to Puigcerdá (Girona), a mountain village in the Catalan Pyrenees. The change has been very beneficial for Alexandra who, like all children with progeria, has to take special care of her cardiovascular health, which is regularly checked by the Sant Joan de Déu hospital in Barcelona, an international reference in paediatrics.

"The change has been very good for her, here we are at 1,200 metres above sea level, with fresh air and now her red blood cells are at full strength", says Esther with optimism, but aware that many complications of the illness have not manifested themselves because her daughter is still small.

Esther, who works in digital marketing which allows her to work remotely, and Cédric, who is an osteopath and can treat their daughter, try to live each day to the fullest, without letting sadness "for whatever has to come" extinguish their daughter's happiness. That is why they dedicate that golden time to creating beautiful moments, "because in the end they are the ones that will remain in the memory". They have all conspired to normalise progeria so that it does not mark the existence of their only daughter.

Until last year, Alexandra attended an international school in San Cugat del Vallés, Barcelona, where she learned English and Chinese in addition to the Spanish, Catalan and French she learned at home. This year she is 'homeschooling' through the French education system, as the Spanish system does not regulate this method.

"At this age they are sponges for learning languages, it is not something specific to children with progeria," says Esther, who does relate the vitality they exude to the syndrome. "They are children who have a great zest for life, who are very curious about everything and who like to learn. Alexandra loves books, music, dance... at school she did ballet, but where we live now we haven't found a dance academy yet". However, Alexandra has discovered an activity that has stolen her heart: equine therapy. "Now she only wants to hear about horses and as long as her condition allows it, she is in love with horse riding".

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Although physically healthy, Alexandra takes aspirin (acetylsalicylic acid) every day to prevent blood clots and her mother lubricates her eyes every night because they become dry when she cannot close them. In addition, because she has virtually no body fat, she gets tired when she walks for a while and, because of her fragile bones, she has some limitations in bending her joints.

None of this stops her, however, from playing with Àuria, Laia and Manuela, some of her best friends from school whom she can't see so regularly now. Alexandra comes in, goes out, socialises, laughs and enjoys herself like any other child her age. Inn short, she normalises her illness, as reflected in 'Una niña entre veinte millones' (a girl in 20 million, 14 euros), the book written about her by journalist Quim Miró, which has sold more than two thousand copies and whose profits have been donated to various research projects on progeria, including that of Dr. Vicente Andrés' team at the Centro Nacional de Investigaciones Cardiovasculares (CNIC).

Esther says that Alexandra is aware of her rare condition, "although there are other things that we will explain to her", and that when she arrives at a place where there are children who don't know her and ask her why she has no hair, she answers resolutely and without complexes: "Because I have a disease". A huge step towards making progeria more visible.

The other step, that of extending life expectancy, is something else. Research on mice, clinical trials on humans, a laboratory that dares to put up the money to develop a drug for only 154 children... "We know it's a long process. Do we have hope that a drug will arrive? Yes. Will Alexandra see it? Probably not. Time flies, and in her case quickly, but there is still a lot of life ahead of her, full of "beautiful moments". And bright ones.