by Assunta Ginanneschi
Recently Cathy, a friend of mine, asked me “what do you mean by “rare diseases”?” That’s a very good question! Rare diseases are considered rare because not many people have them.
Actually the precise amount depends on the jurisdiction: the European Union, for example, defines a rare disease as one with a prevalence of no more than 50 people per 100,000 population, whereas the United States sets a numerical maximum of fewer than 200,000 people in this country.
Moreover, some conditions that initially are classified as rare eventually outgrow that categorization. Previously under-diagnosed diseases, Asperger’s syndrome for example, turned out to be much more common than originally thought.
Sometimes a disease is considered rare in a certain geographic area and not rare in others,
depending also on the relative incidence of that specific disease within the local population.
The first step in dealing with a rare disease is getting a proper diagnosis. Rare disease day was founded to make rare disorders known to the public, to raise awareness around them and not to forget they are rare but present, a possibility to be taken into account. Knowing about rare diseases can make it easier for those who need treatment for it.
Her next question was: “What causes rare diseases?” Roughly 80% of rare diseases have genetic causes; just a handful are infectious diseases.
As evolution theory indicates, genetic mutations occur randomly. Sometimes the modifications fit with the environment and an individual better fits in that context, a signifying step forward for the species adaptation to the surrounding conditions. But sometimes the genetical modifications provide no advantage, at least not apparently, and result in what we consider a genetic disorder or rare disease.
The variation may concern one or more genetic location and involve several aspects of a patient’s life. The process genetic code → proteins or enzymes → body function can be illustrated like this:
Sometimes these modifications are relatively minor and have little impact on the person’s health and appearance. For example, in Lucas’s Story , the genetic mutation is recessive, related to the sex-chromosomes, has a long history and allows a good quality of life as long as the patient is aware of the potential risks and follows precautionary measures.
This diagram shows how an X-linked recessive disease, like favism, can be transmitted from parents to their children.
Other rare diseases have been just recently discovered. Like in Noemi’s story, filamin C myopathy follows a dominant pattern, is related to the non-sex chromosomes and leads to debilitating conditions.
This diagram shows how an autosomal dominant disease, like filamin C myopathy, can be transmitted from parents to their children. Any child in this family would have a 50% chance of inheriting the gene that causes the disease.
Because suitable treatments have still to be found, maintaining a healthy lifestyle is essential to keep the disease from progressing too fast. Another purpose of Rare Disease Day is to bring attention to all those diseases, like filamin C myopathy, that need research and funding to find a treatment.
4.0% of 7’400’000’000 people in the world means that approximately 300’000’000 people are directly affected by a rare disease.
Despite this massive number, people with a particular rare disease often have difficulties finding treatment and support. There is a lot of coordination work to do: correctly identify the pathology, find the treatment and access to the right care and support institutions. Umbrella organizations, such as the NORD (National Organization for Rare Disorders), have been created for supporting the patients and for informing them about their condition and available resources, as explained in this video.
CheckOrphan is also working to raise awareness and keep people informed via:
- News – Largest orphan drug / rare disease news database (over 90,000 articles)
- Rare Disease Pages – over 6,900 rare disease pages with disease information, news, videos, clinical trials, research and more – consolidated on one page for your convenience
- Videos – Largest orphan drug / rare disease video database
- Access Programs – First database ever of Access Programs
- Treatments – Largest database of products in development or on the market
- Clinical Trials – Only orphan drug-filtered database for clinical trials
- Events – largest calendar of events focused on rare diseases and orphan drugs
For affected people it is highest priority to quickly get the right diagnosis, as well as to connect with patient associations and keep updated about treatments. So we invite you to be part of Rare Disease Day. Rare Disease Day takes place the 29 of February, a rare day!
We invite you to send us your story or your input for the:
- News & Events: firstname.lastname@example.org
- Videos: email@example.com
- Announcement: firstname.lastname@example.org
- Access Programs: contact email@example.com
Share your experience with the rare disease community. CheckOrphan’s purpose is to inform the audience about the disease and the treatment options. Your personal data (name, age, address coordinates, etc…) will be treated as strictly confidential.
Or post your story in the comments section below. We would love to know what you are doing for Rare Disease Day!