14/05/2025

On the occasion of World Mucopolysaccharidosis Day, a rare lysosomal pathology, we spoke with Jordi Cruz, director of the MPS Lysosomal Association, and Chema, a patient of this rare disease who, through his story, shows that life is undoubtedly a matter of attitude.

For decades, mucopolysaccharidoses (MPS) and other lysosomal diseases have been considered exclusively as pediatric pathologies. It was not a question of medical classification, but of vital reality: most patients did not reach adolescence. Jordi Cruz, director of the Lysosomal MPS Association, remembers this starkly: "Patients did not reach puberty. It was a time without effective treatments, without early diagnosis and with a future practically sealed from birth.

But something has changed for some time now. Scientific research, therapeutic advances and, above all, the tireless struggle of families and associations have turned the script around. Today, more and more people with MPS are reaching adulthood, building their lives and demanding a voice in the decisions that affect their health, their bodies and their future. "It used to be the parents speaking; now they're speaking," Cruz points out. And one of those voices that is now being heard has a name: Chema.

Chema: an example of a determined life

Chema is one of those references who embody the transformation of prognosis into hope. A patient with mucopolysaccharidosis type 1 (MPS1), today he is almost 39 years old. He is married, has two daughters and leads a group of adult patients within the MPS Lysosomal Association. In spite of the physical sequels that the disease has left in his body, his ideas are clear and his will is intact.

She was diagnosed with MPS1 when she was just two years old, after a long road of doubt and mistrust of maternal instinct. "My mother noticed that something wasn't right. She would change my diaper and see that my hips didn't open my legs the same. I was kind of more still, I wasn't moving as much," she recalls. But in the 1980s, in a small town in Extremadura, that wasn't enough. "The doctors said, 'It's just a mother's thing. That they imagined it. That I would get over it.

The definitive diagnosis came almost by chance, thanks to a conversation between his father, a forester, and a doctor from Madrid during a hunting trip, completely by chance.

From there, and referred to a hospital in Madrid, a geneticist identified the disease as soon as she saw him. "This boy has this disease," she said, almost without running any tests. Shortly afterwards, and following all the protocols, the biopsy confirmed it, and also the prognosis: "The prognosis for life was 10 years. There was no treatment. They just told me to do a lot of sports and not to sit still, and look where we are," he recalls.

MPS1: a progressive disease

MPS1 is a rare genetic disease caused by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is responsible for breaking down certain mucopolysaccharides (glycosaminoglycans), which, in the absence of the enzyme, accumulate in cells, progressively damaging organs, bones, joints and the nervous system.

Chema explains it naturally: "Residues accumulate... call them musculopolysaccharides. And the joints become a little stiffer. With malformations too. This naturalness does not minimize the impact of the disease. From an early age, his body showed him that it didn't work like everyone else's. But he never let it define his life. But he never let that define his path.

"I've practically led a half-normal life," says Chema. And he says it with full rights. He has practiced motocross, boxing, swimming, climbing, and even played on a wheelchair basketball team. He has lived alone, driven since he was 18, worked, traveled, and raised a family. He has done it all with effort multiplied by a thousand and with physical pain as a constant companion.

"The prognosis for life was 10 years. There was no treatment. They just said to do a lot of sports and not to sit still and look where we are now."

His body has undergone multiple surgeries. "I have had surgery on my back from the mid-dorsal area to the sacrum. My cervical spine is affected. I suffer from canal stenosis and painful contractures." And although another operation is on the horizon, he continues to move: "If I stop playing sports, I notice it. Everything hurts more. It's harder for me.

In his daily life, he has learned to adapt: he uses glasses with handles, shower trays, adapted utensils, and takes special care with lighting after losing vision due to a corneal injury. "Before I had corneal surgery, I couldn't go out alone at night. I was disoriented. I was afraid.

A life without 'stop

But if there is one thing that has changed his life completely, it has been his family. At the age of 32, after surviving a coma induced by complications during an operation, Chema decided to take a trip to the Dominican Republic to meet the woman who is now his wife. "I told my father I was going. It was Sunday, and on Tuesday I got on the plane." They married two months later and had two daughters, after being genetically assured that they would not inherit the disease. "My children are carriers, but they don't manifest it. We had them genetically tested before they were born."

His fatherhood has not been without its fears, especially in the beginning. "When they were very small, I was afraid to bathe them. I was afraid they would slip away. But I changed diapers, dressed them, fed them. Now I bathe them too.

Currently, Chema lives on a pension that allows him some stability. But his eyes are set on what is to come: "We live in a two-story house. But I know there will come a day when I won't be able to climb stairs. We'll have to move to a one-story house." He carries a crutch for safety, is awaiting surgery for two hernias and a damaged meniscus, and follows weekly treatment at the hospital in Cáceres. "For us, a cold can lead to pneumonia," he warns. "For us, a small problem can get much worse."

And even so, he never ceases to repeat what for him is a vital maxim: "I have never allowed anyone to set a limit for me. I have always set my own.

Lysosomal MPS: partnership as a driver of change.

From the other side of this reality, Jordi Cruz brings the collective vision. As director of the MPS Lysosomal Association, he has seen the growth of an organization that started out focused on basic research and is now committed to comprehensive care for people. "What did not exist before can now be built," he says.

The association brings together nearly 1,700 members and covers more than 70 different lysosomal diseases. Headquartered in Esplugues de Llobregat (Barcelona), it operates as the nerve center of a national and international network. From physiotherapy to humor workshops with monologists, the goal is clear: to improve people's quality of life. "We try to make them laugh, to make them live, to make them feel good," he sums up.

The job, he acknowledges, is not easy. Many MPS have neurodegenerative components, which complicates autonomy and requires an individualized approach. That is why the testimony of patients like Chema is so valuable: because it shows that it can be done. "We need support," Cruz insists. "Because empowering patients is not just about listening to them; it's about giving them the tools to finally lead their way."

Chema's story is not the story of a rare disease, but the story of an exemplary will. It is the story of a man who has chosen to live fully, not in spite of his limitations, but with them. "Many things that even people without my disease have not been able to do, I have been able to do. If I had always listened to the doctors, maybe I wouldn't be the way I am. Sometimes I've done well, sometimes I haven't. But I am the way I am. But I am the way I am.

And in that "I am as I am" there is a powerful statement. Because, as Jordi says, "what did not exist before, can now be built". And Chema, with every step, every effort, is building it.