Around 300 million people live with rare diseases around the world (according to the Global Genes Project), which affects not only their own lives, but those of the people who love and care for them. A disease can be classified as ‘rare’ when it affects fewer than one in 1,500 to 2,000 people, although precise numbers vary for country to country in these calculations. A condition can also be called rare if it is unusually severe, or there are very few adequate treatments available for it. Most rare diseases are genetic and present throughout the person’s life, even if symptoms do not appear until puberty, adulthood or older age. They can be chronic or incurable, although there are several short-term medical conditions that can be classified as rare diseases as well.
Due to their lower publicity profiles, treatments for and research into rare diseases can receive far less funding and attention than other health conditions. Rare Disease Day is an annual initiative that aims to promote the issues associated with living with a rare disease and it takes place this year on 28 February around the world
Some examples of rare diseases
There are several rare diseases that, despite not being prevalent in a larger percentage of the global population, are still well known. These include Ehlers-Danlos Syndrome (EDS), which affects the connective tissues of the skin, the joints and blood vessel walls, leading to fragile skin that bruises or scars easily, hypermobility, joint pain and fatigue. Some types of EDS can come with life-threatening complications, such as the risk of rupturing major blood vessels. Concerning symptoms or incidents can be recorded on Care Vision to help track patterns and prevent recurrences of symptoms.
Sickle Cell Disease is another well-known rare disease that changes the shape of red blood cells, making it harder for the haemoglobin inside to carry oxygen around the body. This disease is more common in people from African or Caribbean descent and can cause severe pain, frequent infections and anaemia, leading to fatigue and shortness of breath. Pregnant women are routinely screened for sickle cell disease and methods of symptom management can range from drinking lots of fluids and taking antibiotics to blood transfusions and vaccinations to protect against infections.
Haemophilia is another rare disease that affects the blood due to genetic factors reducing the number of clotting factors it has. So, any cuts or injuries sustained become far more serious, as it takes the body a lot longer to form clot s in order to stem the flow of blood. Haemophilia can also cause blood to leak into muscles and joints even without an injury having occurred. Regular injections of the missing clotting agent help, as well as taking steps to prevent injuries and cuts. Care Vision has a suite of effective monitoring tools to help care staff work to avoid falls, accidents and injuries in the care home.
Finally, cystic fibrosis is characterised as a rare disease, caused by a flawed gene that affects how water and salt move in and out of cells. This flaw results in a build-up of stick mucus in the body’s passageways, especially in the lungs and digestive system. It affects children and adults and is progressive, making the body more prone to infections and other issues such as poor growth, weight gain and shortness of breath. Care Vision’s Nurse Call alert tool helps people raise the alarm in the middle of the night if they are experiencing problems with breathing or pain and can receive immediate medical attention.
How else can Care Vision help those looking after people with rare diseases?
Care home residents living with rare diseases like those listed above can often find it hard to manage the symptoms alone, particularly if they have other co-morbidities also requiring treatment. They can require frequent hospital stays, sometimes as an emergency admission, so having their medical records and details of their rare disease readily to hand via Care Vision can, quite literally, be life-saving. Care Vision can also help keep track of medications and dosages to monitor progress and record side effects. The system can store details of any food requirements to help manage the rare condition and schedule therapy sessions and external appointments for ongoing symptom management.