First Spanish patient to receive treatment for her rare disease: "30 years ago a medication changed my life"

Updated Thursday, February 29, 2024-02:12

Lucía Badía is one of the three million people who suffer from a rare disease in Spain.

But unlike most, she hardly notices it.

She has no pain, after-effects or symptoms that reduce her quality of life.

For her, the

Gaucher disease

she suffers from is "something that walks with me", a reality that is there but does not create obstacles or barriers.

This 47-year-old Aragonese woman feels lucky - "I was born with a star," she says - because although she knew the bitterest side of the disorder, she soon had tools available to deal with it.

30 years ago, Badía was one of the first people who was able to benefit from the

first treatment for a rare lysosomal storage disease

, a therapy that radically changed her present and her future.

He remembers precisely the exact moment the illness came into his life.

She was 16 years old and had no idea what was going to happen to her.

«My mother was sewing and I began to notice that a phalanx on one of her fingers hurt.

I told him about it but we didn't give it any more importance and I went to sleep," she recalls.

The next morning, the pain was already gripping his entire body.

«

I couldn't even get up.

I fell to the floor and crawled as best I could to my parents' room.

There began an adventure that has been very ugly in some aspects but also very beautiful in others," he says.

The worst thing, he says, was

the uncertainty of the first moments

, the fear of seeing that no one knew how to identify what was happening to him.

«I have a horrible memory of being at school and having to leave class because of the severe pain.

I saw everyone scared.

"I was afraid of dying right there," she recalls.

Fortunately, Juan Ignacio Pérez Calvo, a specialist in the Internal Medicine service at the Lozano Blesa University Clinical Hospital in Zaragoza and a friend of the family, was fully involved from the beginning in the task of finding the diagnosis.

"Juan is the superhero of this story

," Badía emphasizes.

«He always says that in 92, when my illness began, he knew the meaning of the word frustration because finding out what was happening to me was a very complicated process.

But he got it.

He managed to find out that what he had was a rare disease.

"It was very hard," confirms Pérez Calvo himself, who not only had a hard time finding the diagnosis, but also finding more information about that disorder of which "only 15 or 20 lines were indicated in the manuals."

Through a nascent internet he contacted a team from the Mount Sinai hospital in New York, where they confirmed the diagnosis and opted for the drug against the disease that the pharmaceutical company Sanofi had just developed.

«In that hospital they gave me the first infusion of the treatment.

“I was a guinea pig but I was never afraid to treat myself,” recalls Badía, who emphasizes that the therapy was a success.

«From the beginning he tolerated it wonderfully and

the improvement was very rapid

.

It was a radical change from night to day," confirms Pérez Calvo.

The therapy, which became available to Spanish patients in 1994, meant saying goodbye to pain, extreme fatigue, lack of platelets... and also to all the restrictions that Badía had to endure to protect his body.

«After the diagnosis I had to stop skiing, which was something I loved, because my bones were weak and there was also a high risk of bleeding.

I was 16 years old, I was in the 2nd year of BUP and I had to be very careful in general with everything.

But thanks to the treatment I was able to recover a normal life," emphasizes the Aragonese, who also wants to highlight the role that her family played in her success story.

"The other superheroes are my parents who did not stop until I was able to treat myself in Zaragoza with a drug financed by Social Security," she says, excited.

And she continues: «I often think about what would have happened if I had not had Juan or my parents by my side.

Thanks to them I have been able to live my life like anyone else.

A toxic accumulation

Type I of Gaucher disease, the disorder that Badía suffers from, causes the accumulation in different cells and tissues of substances from lipid metabolism, which, among other disorders, can cause bone problems, blood disorders , such as anemia and low platelets, poor liver function, enlarged spleen and liver, etc.

It is caused by mutations in the GBA gene, which is responsible for giving instructions to the body to produce a key enzyme when breaking down a fatty substance, called

glucocerebroside

, which, if it accumulates in tissues, can be toxic.

The first therapy that was developed against the disease was, precisely, an enzyme replacement treatment, a drug designed to provide patients with the tool that they lacked due to an error in their DNA.

«In the beginning, a natural synthesis of the product was done.

From there, development has continued and right now there are

six treatments available

for lysosomal storage diseases," said Salvador García, medical director of Specialized Medicine at Sanofi Iberia in a press conference organized on the occasion of the drug's 30th anniversary.

One appointment every 15 days

To this day, the only thing that reminds Badía that he has a rare disease is the medical appointment he has every 15 days to receive treatment.

«At first I needed about two hours to receive the infusion but that has also changed a lot.

Now it is much faster and in about half an hour it is ready », he explains.

«I have it completely integrated into my routines.

I have tried other treatments but they have not worked, so I assume that I will continue to prick myself every 15 days for the rest of my life," adds this Aragonese woman who has lived for 12 years in La Palma, where she works as a notary.

When he was in high school, the disease changed his future plans.

"I wanted to be an architect, but I had to move to another city to study and at that time I didn't know if it would be possible to receive the medication elsewhere, so I stayed in Zaragoza."

She did Law and later took the exams to become a Notary, a decision that she is now delighted with.

«It's a job that I love, I wouldn't change it.

I feel that life has been taking me and I feel very lucky.

With everything bad that could have happened to me, things have turned out very well, I have been very lucky," she says.

In that sense, he calls for more investment and more support for research into rare diseases, to find solutions that, as in his case, turn these disorders into a trait that does not mark the lives of those who suffer from them.