A genetic disease that can erase your smile? Alba and Irene live with it (and there's no cure).

When she was little, Alba couldn't keep up with her classmates in physical education classes; she would tire and fall. One day, one of her teachers approached her mother to talk. "It's not normal for her to tire so quickly," he said. Her mother, already suspecting something, began a tour of several Madrid hospitals. She was diagnosed at a hospital in her hometown, Alcalá de Henares . Alba suffered from facioscapulohumeral muscular dystrophy .

This disease, also known as FEH dystrophy , is genetic and degenerative. It causes a loss of muscle mass through the production of the DUX4 protein , which is toxic to the muscle and often leads to mobility problems and dependency . It is a rare familial disease, with a prevalence of approximately one in 20,000 people, according to data from Orphanet, a rare disease database. Although they specify that the figure is "undoubtedly" an underestimation : "It often goes undiagnosed, it is the third most common form of myopathy."

Furthermore, the disease, which is celebrated World Day every June 20, has no cure. "Treatment is symptomatic and aims to prevent joint stiffness and pain through passive mobilization and the administration of analgesics. In severe cases, ventilatory support may be necessary. Surgical intervention consists of fixing the scapula to improve arm lifting. The prognosis depends on the extent of the loss of functional capacity . Life expectancy is not affected," Orphanet reports.

Alba , now 21, now needs a wheelchair and admits she has to constantly adapt: ​​" It increases resilience and ingenuity, since if I have trouble raising my arm one way, I have to manage another. I have accepted the disease quite well ."

When asked about the future, she speaks of uncertainty and stress, but emphasizes the support she receives from the Spanish association for these patients, FSHD Spain. In fact, Alba was able to attend the 32nd International FSHD Congress held in Amsterdam from June 13 to 15. "I'm positive because pharmaceutical companies are interested in us," she adds.

Regarding reduced mobility , she believes it should be included in education from school onwards : "There needs to be more awareness because then people look at me on the street and I feel strange."

Irene , a native of Badalona, ​​has a similar story because she also suffers from the same condition. At 21, she's studying a degree in East Asian Studies and will be leaving for South Korea on an exchange program in February of next year. She was diagnosed at age 13 , as she was constantly told her problems stemmed from scoliosis.

Until he started walking awkwardly, his right leg wasn't functioning as it always did . "I didn't improve with rehabilitation; I even tried some shoe inserts ," he says. An orthopedic surgeon took two lateral X-rays and decided a neurologist should review the results. "I walked in the door, and he said, 'I'm going to do an electromyogram , but I know what you have,'" he continues.

"I have difficulty walking and limited mobility in my right arm."

The surprise was that her diagnosis was followed by that of her mother and grandmother, as the condition frequently affects more than one family member. "I have difficulty walking and limited mobility in my right arm . I get very tired after exercising, and they're studying my heart because its function is somewhat limited," she says.

When she learned about the association, thanks to a doctor who told her about it, she felt relieved: " I can be 100% myself ; they understand me." "I live day by day; I know I won't be able to stop the symptoms. I don't know how I'll be tomorrow, but I'm fine today ," she concludes.

FSHD Spain emphasizes the importance of moving toward a possible cure: "Currently, there is no treatment , and those affected face progressive deterioration of their bodies, muscle pain, and ongoing fatigue . In many cases, it affects the facial muscles , so as it progresses, it erases the ability to smile," they explain.

The association is funded by membership fees from its 300 members and donations and is working to create a patient registry that will "provide key data for research" and thus attract clinical trials to Spain . They emphasize that "encouraging results" from ongoing trials and the planning of new ones have been announced in Amsterdam.

They also comment that numerous pharmaceutical companies have shown interest in this disease. "A cure could have applications in areas as common as the loss of muscle mass associated with aging . Right now, patients are in a race against time, as the drug must be developed in the shortest possible time to prevent the disease from progressing further. Funding is needed for this," they conclude.