Rare diseases: the liaison office and the official registry

It is the law that gives a named door to a problem that usually has none: a Liaison Office inside the Department of Health, dedicated to people with rare diseases. Its value is in what the law orders it to do: orient patients, families and health professionals; facilitate access to specialised services, therapies and orphan drugs; and develop economic, social and psychological support programmes for patients and caregivers. It also creates an official registry, with confidentiality required by law.

The law sets no eligibility criteria and no enrolment procedure. What it does define is what counts as a rare disease: “those health conditions recognised by the Office of Rare Diseases Research through the Genetic and Rare Diseases Information Center.” That definition points to a federal source, not to a Puerto Rico list, which is why we do not publish a list of conditions here.

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   Step 1: There is an office with a name and an owner

   It is the first thing it solves, because in rare diseases the problem is usually that nobody knows whom to call. “The Liaison Office for the Support and Registry of Persons with Rare Diseases is established, which shall be attached to the Puerto Rico Department of Health.” It is directed by an Executive Director appointed by the Secretary of Health, and the law provides it shall have personnel specialised “in areas such as medicine, social work, legal counselling and administrative functions.”

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   Step 2: What it owes you

   Of the list of functions, these are the ones with a patient’s face: “facilitate access to specialised medical services, therapies and orphan drugs”; “provide orientation to patients, families and health professionals about rare diseases and their available treatments”; and “develop economic, social and psychological support and assistance programmes for patients and their caregivers.” The last expressly includes caregivers, who are almost never named in a law.

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   Step 3: What counts as a rare disease

   The definition matters because it decides the scope, and it points to a federal source: rare diseases means “those health conditions recognised by the Office of Rare Diseases Research through the Genetic and Rare Diseases Information Center.” There is no Puerto Rico list of its own in the law’s text.

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   Step 4: What an orphan drug is

   The law defines it and anchors the definition in two federal statutes, which helps when speaking with a health plan or a pharmacy. Orphan drugs means “those drugs or biological products intended to prevent, diagnose or treat rare diseases, whose low prevalence limits their development and investment,” and adds: “Those recognised by the Federal Food, Drug, and Cosmetic Act, 21 U.S.C. §§ 301-399 (1938) and the Orphan Drug Act, 21 U.S.C. §§ 360AA-360FF (1983) are considered such.”

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   Step 5: The registry, and its confidentiality

   The law creates the Official Rare Diseases Registry, which “shall contain detailed and updated information about the patients diagnosed with these conditions” and shall be used “for planning and executing public health strategies, as well as for coordinating scientific research and developing patient support policies.” And it sets a limit in its own article: “The collection and use of data in the Official Registry shall be subject to strict confidentiality and personal data protection rules, in accordance with current legislation.”

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   Step 6: Who advises, and why it matters to you

   Because there is a seat for patient organisations. The Rare Diseases Advisory Committee is made up of five members: the Secretary of Health, who chairs it; a geneticist; “one (1) representative of patient organisations”; an academic with research or public health policy experience; and a health professional with clinical experience managing rare diseases. The Committee advises on the design, implementation and evaluation of public policy “and may issue recommendations for the adoption of new measures or programmes.”

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   Step 7: Outside Puerto Rico too

   A detail that matters when the diagnosis or treatment is not on the Island. Among the Office’s functions is “establishing cooperation agreements with research centres, universities and specialised hospitals inside and outside Puerto Rico,” and also “fostering the development of scientific and clinical studies on rare diseases on the Island.”

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   Step 8: What this law does not do

   Worth saying before someone arrives expecting something else. The law creates an office, a registry and a committee; it creates no enforceable right to a treatment or a medicine, sets no eligibility criteria, and provides no claim procedure and no penalty. If your problem is a health plan denying you a medicine, that route is a different one and has its own guide here.

The Liaison Office is attached to the Department of Health, and that is where it lives under the law: it is directed by an Executive Director appointed by the Secretary of Health. The law publishes no address, phone or registry enrolment form, and we do not invent them. If your immediate matter is a health plan denying a medicine, or coverage of a condition, those have their own guides here; if it is the newborn screening that detects hereditary conditions at birth, so does that.

• Expecting this law to force coverage of a treatment: it creates an office, a registry and a committee, not an enforceable right.
• Not asking for the orientation: the law imposes it on the Office for patients, families and health professionals.
• Forgetting caregivers: the law orders developing economic, social and psychological support and assistance programmes for patients and their caregivers.
• Assuming there is a Puerto Rico list of rare diseases: the definition points to the Genetic and Rare Diseases Information Center.
• Fearing for the registry’s privacy without knowing the article: the law subjects it to strict confidentiality and personal data protection rules.
• Ruling out help from outside the Island: the Office may establish agreements with centres, universities and hospitals inside and outside Puerto Rico.

These are the government pages this guide is based on.

• Departamento de Salud de Puerto Rico

  Salud

  bvirtualogp.pr.gov