Maria has lost track of how many times she has seen a healthcare worker over the past three years. But despite innumerable medical checks, she still does not have any clear answers as to what is ailing her.

“I have been sick for so long. I want to know why,” said Maria, who asked that her last name not be used to avoid possible repercussions at her Panama City workplace. “One doctor said maybe I have some kind of rare condition, but he did not say which.”

Now in her early 20s, Maria said she has been living with chronic fatigue, muscle aches and other symptoms for several years – and that they have been gradually getting worse.

“I like to watch the birds,” she told Al Jazeera from a bench in the city centre as songbirds flitted about in the shade of a nearby tree. “They help take my mind off everything.”

Push for answers

If Maria is in fact living with a rare disease, she may have more waiting ahead as a proper diagnosis can often take several years in Europe and longer in Panama. Even then, if Maria is diagnosed with one of the 5 per cent of rare diseases that has an approved therapy, she might not have access to it if Panama does not buy it for the public health system.

But a movement has been mobilising in the Central American nation to change that.

Patient- and parent-led Panamanian associations are joining forces to lead a push for concrete action to ensure early diagnosis, medical care and access to treatment for people living with rare diseases, and they officially formed an umbrella group – the Panama Rare Disease Network Federation, RedER – in November to have their voices heard.

“We are stronger when we are united,” said Alaisa Arauz, director of the Panamanian Hemophilia Foundation, one of the 10 organisational members of RedER, which also incorporates individuals with diseases so rare there are not enough patients in the country for a group.

Rare diseases are only rare when considered individually. Globally, an estimated 300 million people live with one or more of over 7,000 known rare diseases. Most rare diseases are genetic in origin, many are life-threatening, and 95 per cent have no approved therapy.

Haemophilia has an approved therapy in Panama, but it took 14 years of non-stop, patient-led advocacy in the country in the 1990s and early 2000s to pressure the government into acquiring enough Factor VIII concentrates to cover patients’ needs. Factor VIII is the missing clotting factor in haemophilia A patients’ blood.

“It was a huge achievement,” Arauz told Al Jazeera. “It was years of struggle. With every government that took office, we were there.”

Arauz has two sons who have been diagnosed with haemophilia, and she lives with Von Willebrand disease, another genetic bleeding disorder. But it was decades before she was diagnosed.

“It was [bleeding episodes] my whole life,” said Arauz, who also acts as the delegate for rare disease patients on an intersectoral, government-created committee tasked with ensuring access to treatment for such patients. “Imagine if I had had an early diagnosis. I would not have suffered for so long.”

Rare diseases law

Formally known as the Intersectoral Committee of Prevention, Diagnosis, Comprehensive Attention and Research for the Treatment of Rare, Uncommon and Orphan Diseases, the committee was born out of a 2014 Panamanian law that deals specifically with rare diseases – the only such legislation in Central America.

In Panama, as in the European Union, rare diseases are defined as those that affect fewer than one in 2,000 people.

The law aims to ensure social protection, diagnosis and treatment access for people with rare, uncommon and orphan diseases. But while the legislation has been on the books for more than seven years, it has yet to be fully implemented.

“It is a very good law, a very complete law, but as we have called it, a ‘decorative’ law,” said Arauz.

The law, for example, instructs the Ministry of Health to set up a national programme for buying medications for the treatment of rare diseases, “to enable immediate and equitable access for all patients”. But that key aspect has not yet been fulfilled.

One of the committee’s responsibilities is establishing cooperation agreements with governmental and private sector bodies to fund treatments for rare disease patients. But the committee was not established until 2019 and has made little headway since. Along with Arauz, it includes six representatives from different government entities, as well as a pharmaceutical industry delegate.

The obstacle, according to Arauz and other rare disease patient association leaders, is that the Ministry of Health, which presides over the committee, has switched its representative several times and those representatives also have other health ministry duties and are not solely dedicated to rare diseases.

The Ministry of Health was unavailable for comment before the time of publication, and the department has made very few public statements on the issue of rare diseases over the past two years.

In a statement from October 2020, the ministry noted some advances, including the identification of more rare diseases in Panama and a committee tasked with developing disease-specific management and treatment guides.

‘A full life’

But patient advocates say the longer it takes to implement the law, the longer people go without care.

“The law is not being fulfilled and patients are not being treated,” said Enma Pinzon, president of the Rheumatoid Arthritis Foundation of Panama and a longtime patient movement leader also involved with the National Federation of Associations of Patients with Critical, Chronic and Degenerative Diseases.

Pinzon told Al Jazeera that when rare diseases do get public attention in Panama, it is through charity and aid campaigns to improve the living conditions of people diagnosed with diseases for which there are no treatments.

That is important, but the focus ends up overshadowing the fact that there are some rare diseases with approved therapies and patients that need them, she said.

The focus of RedER will be advocacy to push the government to implement the law and other measures, added Pizon, stressing that the goal is to ensure everyone that needs medical care can get it.

“I have a chronic disease,” she said. “Thirty years ago, I had the luck of receiving medication. I had the luck of receiving an early diagnosis and here are the results. I have had a full life and that is what I am seeking for everyone with illnesses in Panama.”

TodayNG