What is it like to live with a rare disease?

The European Union defines a rare disease as one that affects less than 5 in 10,000 people in the general population. Around 1 in 17 people will be affected by a rare disease at some point, meaning about 3.5 million people in the UK will be affected.

With 6000 – 8000 rare diseases already identified, and five new diseases being discovered every week, the number of people living with a rare disease continues to grow. However, unlike more common conditions with established support networks, many people living with a rare disease can feel isolated. With this in mind, we’ve highlighted 5 rare diseases below to try and raise their profile and make others more aware of the people living with these conditions across the world.

Mesothelioma – 30 out of 100,000 people affected worldwide

We’re all aware now that Asbestos is dangerous. However, what is perhaps less well known, is exactly how common exposure to Asbestos used to be, and what the consequences of that exposure are within today’s society.

This material, once widely used for insulation, can release fibres which are small enough to be taken into the lungs. Once in the lungs, they interfere with cell division, which leads to genetic mutations causing Mesothelioma. However, Mesothelioma usually occurs about 40 years after exposure, and is a particularly unpleasant rare disease. With only 7.5% of patients surviving 5 years or more, and a median survival rate of 10 months, Mesothelioma is a very deadly cancer. Britain has one of the highest rates of Mesothelioma, with around 30 per 100,000 people a year being diagnosed. However, this number is largely only kept low because of improved regulation surrounding Asbestos use and removal.

Charcot–Marie–Tooth disease – approx. 1 in 2500 people affected worldwide

Although not technically a rare disease, as it affects 1 in 2,500 people, it is certainly an underappreciated one. In fact, it is one of the most commonly inherited neurological diseases, but very few people know its name, or its symptoms.

Charcot-Marie-Tooth can cause enough pain that those living with the condition cannot effectively carry out their day to day tasks. Although the condition itself starts to appear in childhood, the symptoms can often not show up until middle age. Dysfunction within the nerve cells can lead to a loss of sensation across the body and difficulty controlling it. Symptoms can vary significantly from person to person, but the earliest signs are in the feet, quickly progressing to cause difficulty walking due to constantly curled toes and muscle wastage in the leg. Other symptoms include general loss of body control, such as involuntary grinding of teeth, difficulty breathing and spasms in the arms, hands and neck. This can also include impairment to both hearing and vision.

The outcome for Charcot–Marie–Tooth disease is also unusually varied. Researchers have concluded that it in fact does not have an impact on life expectancy, as even identical twins with the same condition can have a radically different experience living with this illness.

Fields’ disease – 2 people affected worldwide

This condition is so rare that only two people in the world are known to have it - the Field’s twins. The rare disease is unique to these identical twins and was therefore named after them. This unusually rare, progressive disease causes neuromuscular degeneration, which first appeared in the girls at the age of nine, causing them difficulty when walking. Over time, the degeneration has become worse, leading to an association with nerve problems, which means that the girls now also live with tremors and involuntary muscle movement. Although this particular condition is about as rare as it gets, the support Network SWAN (Syndromes Without A Name) estimates that 6000 children a year are born with a syndrome so rare that it cannot be diagnosed.

Fibrodysplasia ossificans progressive (FOP) – approx. 1 in 2 million affected worldwide

This is a particularly graphic rare disease which often damages a person’s body slowly over time. It is caused by a rare genetic mutation which means that muscle tissue and connective tissue in the joints are gradually replaced by bone. Any trauma to muscles can cause swelling which is then also replaced by bone during the healing process.

Considering the restrictions in mobility that occur when joints become inflexible, the risk of regular injury and thus inflammation increases massively over time. Mobility continues to reduce until the person becomes completely reliant on external support. As medical tests and interventions often cause some superficial skin/muscle damage, it’s been known for some healthcare professionals, who are unfamiliar with this very rare disease, to initially make it worse. FOP also makes it very difficult to chew and swallow, which can eventually lead to malnutrition. This condition affects approximately 1 in 2 million people worldwide, with only a few hundred cases ever reported.

Epidermodysplasia Verruciformis – 200 people affected worldwide

This is a particularly visible rare disease, and has gained notoriety in the western world for turning Indonesian carpenter Dede Koswara into the ‘tree man’. HPV, the class of virus known for increasing the risk of cervical cancer, is very common. In fact the types associate with this disease are found in about 80% of the general population. But an unusual, genetic susceptibility to this causes the growth of scaly tissue around the hands, feet, neck and body.

Although relatively well known in the media due to its distinct appearance, it is extremely rare with only 200 verified cases reported in medical literature.

From the strange to the deeply moving, rare diseases affect the lives of people around the world every day. Through research, communication and a great deal of hard work, people come together to form support networks and make the everyday challenges of those living with a rare disease a little bit less daunting. By raising awareness of rare diseases people everywhere can better understand the challenges others face, which can only help those who are experiencing some of the rarest conditions in the known world.