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Rare Disease Day - Awareness of The Rare

A rare disease is a health condition affecting a small number of people compared with other diseases commonly identified in the population. According to the World Health Organization,(WHO) to date there are between 7 000 and 8 000 known rare diseases worldwide, with a recent study indicating that an estimated 400 million people globally are living with a rare disease.

Some are easily recognised, such as cystic fibrosis or Lyme disease. Many others are less known, such as trisomy 18 or cat eye syndrome. Doctors and researchers are continually finding new methods in managing symptoms of those with rare diseases.

Rare diseases can have many causes. The majority (72%) are found to be genetic, caused by family history, congenital disabilities, or changes in chromosomes. Of those, 70% start during childhood. 

Here we explore a mere few RD’s (Rare Disease) of the many identified globally.

PWS:     Prader-Willi syndrome is a genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes.

MFS:      Marfan syndrome is a rare multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have overly-flexible joints and scoliosis.

FOP:      Stoneman syndrome is a very rare connective tissue disorder with autosomal dominant inheritance. The disorder is characterized by malformation of great toes, thumbs, progressive heterotopic ossification of skeletal muscles, and connective tissue.

DMD:    Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. DMD is one of four conditions known as dystrophinopathies.

TS:         Tuberous sclerosis is a rare, multi-system genetic disease that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system and can result in a combination of symptoms including seizures, impaired intellectual development, autism, behavioral problems, skin abnormalities, and kidney disease.

While only a small number of pharmaceutical companies are engaged in investing in fundamental research for rare diseases, public-private partnerships are key in view of new therapy development. Patients with rare diseases are scattered across countries with the consequence that medical expertise on each of these diseases is a scarce resource. Most physicians will never hear of most rare diseases and even less have a chance to diagnose an affected patient.

Nursing Centres of Excellence that deal with Rare Disorders? “Based on the above statistics we can identify that there is a need for this.”   This infrastructure is necessary for performance of clinical trials for rare diseases and subsequent monitoring of the newly authorized products.  A whole new generation of more targeted therapies, like stem cell therapies, gene therapies or therapeutic gene modulations (exon skipping, antisense drugs, RNA interference) is in development and new products are becoming available. To allow these targeted therapies for smaller patient groups globally to become more common practice in the future.

"The existence of rare and unusual medical conditions highlights how much we still have to learn about the human body."

Indeed, there is a need for intensive work related to making the public aware of the importance of treating rare diseases. The problem, however, does not merely regard the health professionals’ lack of knowledge of all the diseases – but what is necessary is to raise the awareness that statistically more than every twentieth patient suffers from one of the rare diseases and therefore may require a specialized, non-standard approach.

At Cromwell Medical, we acknowledge that nurses need help to stay strong which is why we provide emotional and psychological support for all our nurses. If you’re looking to join a team that looks out for your well-being, browse through our jobs or get in touch- we’d love to hear from you!


- Urs Eiholzer, in Encyclopedia of Endocrine Diseases

- Report on the State of the Art of Rare Disease Activities in Europe

of the European Union Committee of Experts on Rare Diseases