The struggle of parents of a girl from Marbella with an ultra-rare disease: "We have to do big things for her"

José Carlos García

Marbella

When Isabel Pino from Marbella first heard about Multisystemic Smooth Muscle Dysfunction Syndrome in June 2025, it was precisely "the day before" her daughter Daniela turned four months old, because sometimes it's not hard to remember the day your heart breaks. The culprit has a name made up of a cursed sequence of letters and numbers: ACTA2:R179H, a genetic mutation first described in 1999, recognized as a syndrome the following year, and whose likelihood of occurrence makes it impossible to ask 'why me?'. Of the more than 8.3 billion people inhabiting the planet, only Daniela and about fifty others suffer from it. At least those are the diagnosed cases of this ultra-rare disease.

By the time Isabel first heard about MSMDS, the syndrome's acronym in English, she had already seen an uncountable number of doctors. "It was a normal pregnancy, until at week 34 an ultrasound showed that the girl had a very large bladder. The doctors didn't know if it was functioning properly or not, so they induced labor," the mother recounts at her home in Marbella. It functioned once every 24 hours in her first four days of life, until on the fifth day she did not urinate, but with the catheter the problem was solved.

Later, what seemed to be a murmur in her heart was detected, but it turned out to be a persistent ductus arteriosus, which causes abnormal blood flow from the aorta to the pulmonary artery. And later, everything focused on the eyes. "She was bothered by light, we even couldn't clearly see what color her eyes were, until we noticed she had very large pupils. It had always been like that, but the doctors hadn't realized it," Isabel says. In fact, those pupils were the definitive clue, because that is a common trait in everyone who suffers from this disease. But it was the clue that no one was looking for. "I don't know how many ophthalmology clinics we went to, and no one was able to tell us anything," until an ophthalmologist from the Materno-Infantil Hospital in Málaga "told us to do a genetic study," which a month later revealed the sequence of characters that explained the cause of all Daniela's health problems.

Towards Gene Therapy

The ACTA2 gene is present in all cells, but only used by one tissue, the smooth muscle, which is present in all organs with which we perform involuntary movements. In the bladder, it expels urine; in the blood vessels, it regulates pressure and blood flow; in the eyes, it manages pupil size; in the lungs, it controls airflow; in the intestines, it moves food; and in the uterus, it performs contractions during childbirth. Daniela's functions are not all affected because the organs where the disease manifests can vary. "Anyone who sees her today, sees a normal girl, but her body is fighting a daily battle," her mother says. Everything has to be controlled so much so that Daniela "can't even see a white coat or latex gloves, even if they're from the fruit vendor," and every visit to the Materno, because of her fear, becomes "something terrifying."

"Anyone who sees her today, sees a normal girl, but her body is fighting a daily battle"

In order for this to stop being the case, their hopes are pinned on the General Hospital of Massachusetts in Boston, the world's most advanced center for this disease. The genetic treatments that may be able to improve Daniela's quality of life cost tens of thousands of dollars, but if what is desired is a therapy capable of curing the disease, the figure rises to more than 12 million just to cover the cost of research, to which another $700,000 would have to be added for the individual treatment of each patient. However, this is only if the research bears fruit and the therapy is approved by health authorities.

Aware that it is "a very dangerous disease in childhood," Isabel and her husband, Daniel García, are trying to ensure their daughter reaches that moment "in the best possible condition" and have embarked on the task of starting to raise funds through an association they have just created named La Sonrisa de Daniela. A name with a positive outlook and hope, because they are clear that not fighting is not an option: "It's what we've been dealt. We have to do great things so that Daniela keeps smiling and give her the life we intended to give her before she was born."

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• Rare diseases
• Research
• Málaga
• Marbella