Kinder looks at rare diseases

Sandra Fdez. Chelvi

(EFE) on the street.

On the occasion of the celebration of the World Day for Rare Diseases on February 28, a book is presented in Bilbao that does not pretend to be a sales leader, nor is it presented as a treatise on medicine or psychology, but rather wants to give visibility to this type of pathologies as exceptional as they are harsh, with the aim of achieving a more inclusive society.

Maite Villabeitia, author of the book “You are not like other girls”, has explained to EFE that writing is her refuge and has gathered the entries that she has uploaded to a blog for years since her daughter June was one year old and they told her that he suffered from a rare disease that thirteen years later has no name or prognosis.

She does not transmit anguish but “a lot of love” to her girl because she already feels in “a phase of acceptance” of her reality, but she did want to narrate her personal journey from the pain of the news when June was still a baby, a moment that at remembering it still excites him.

Then came the insecurity of not having a label for his illness and the fear that it could get worse; the journey of medical tests and trips in vain to see specialists all over the world who, until today, have not been able to diagnose it.

Genome sequencing.

Parents have assumed the economic cost to determine their daughter’s genome because 8 out of 10 rare diseases have a genetic origin and, for doctors, sequencing the patient’s complete genome represents a diagnostic opportunity. Naming June’s disease could refine her treatments and therapies, and improve her quality of life.

At their own pace.

So far they have ruled out that he suffers from a whole list of “terrifying and terrifying” syndromes, many of them degenerative. The girl “for the moment is evolving” at her pace and now she is making an effort to maintain her balance on her feet and learn to walk.

“The doctors told us that if one day they manage to make a diagnosis, it will have my daughter’s name” and “although we are not going to see a cure, it could help other people,” Maite pointed out.

Eternal little girl, not only because of her psychomotor retardation but also because her height is too, June communicates by gestures and putting her little hand to her mouth to ask for water or to her ear if she wants to listen to music, which she “passes on”, but she doesn’t have language.

painful reality.

When the little girl was born, Villabeitia had very recent what her eldest daughter’s baby stage had been like and for this reason, the pediatricians did not reassure her when they advised her to give June, who had been premature, a little more time than her sister. to support the head and sit down. Inside her, Maite was painfully aware that her child was not like the others.

It took June years of therapy to achieve any of these small milestones in her development, and she continues to receive rehab at a high cost paid for by her parents.

In addition, every day he goes to a special classroom in a regular school in Bilbao, along with four other children with different problems, such as a girl with butterfly skin and another boy with cerebral palsy. “We are very grateful to that center, but that classroom is like a ghetto” and he hardly has any relationship with other children.

Looks that hurt.

“She is a very happy and pretty girl,” considers her mother, who boasts of a blonde daughter with blue eyes and no physical features that show a neurological problem. But she, she “is scandalous” with her outbursts of laughter and also when she yells, which is her way of expressing her disagreement with something, “and of course the people on the street look at us.”

Some are “surprised” looks at a disability; sometimes “you perceive empathy or tenderness”, but there are also looks “with a certain reproach and obvious rejection, and they have even told her that she is very lazy for being so old in a child seat”.

Looks of all kinds that “make us feel as if we had neon lights” and “this curiosity, particularly to me, hurts me,” he has confessed.

And they look at them because “it’s something rare, that’s why it’s so important to make these realities known” and the lives of people like June. “Show the diversity” of society to lose fear of those who have less normalized lives and thus be able to offer them “more compassionate” looks, she has requested.

Kinder looks at rare diseases.

Maite regrets “that we are such a non-inclusive society” and also the lack of public investment in research into rare diseases, but above all she is sorry for the lack of institutional support for those who suffer from them, often with disabilities that require help in their lives daily. “They make you feel that you are very alone,” she reproached.

Personal acceptance process.

With her book, Maite exhibits her experiences, the denial of the principle, her fears and her personal process.

“I hated the doctors who talked to me about my daughter, but I allowed myself to cry so that I could later learn from that sadness” until “I realized what June did have and began to enjoy her, her tenderness and her innocence” , has exposed, because it intends to help other people with similar life situations.

Now he lives with “serenity”, but “it has not been an easy journey” nor is “a positivism washed out by reality” imposed and, being aware of his daughter’s illness, he sometimes breaks down and gets angry with her, but tries to put order back in their feelings to recover “certain harmony”. EFE