Research into rare diseases like PHTS is essential if we are to develop better treatments and improve people’s lives. It is challenging but there are things people with PHTS can do to help.
A rare disease is a condition that affects less than 1 person in 2000. This means that if there are 2000 people in a stadium, you could expect that maybe one person would have the condition. Compare this with a common condition like diabetes. In the same stadium, you could expect 117 people to have diabetes (source: Diabetes UK).
Many rare diseases are genetic disorders, and many affect much fewer than 1 in 2000 people. PHTS is a good example. It is unclear how many people have it, but estimates vary from 1 person in 4,500 to 1 person in 250,000. In the UK, for example, it is thought that there are 200 to 300 people living with PHTS.
Because so few people have PHTS, we don’t know very much about it. This is both the case for the underlying biology – what causes the disease and how it progresses – but also for the best way to treat it and whether it is possible to cure it.
Research can help answer these questions. It can enhance our understanding of PHTS and help scientists develop better treatments. This can improve outcomes for people with PHTS and give them a better quality of life.
Research has already led to many hugely important discoveries about PHTS, and continues to drive progress in helping to identify new treatments and understand the condition better.
Rare disease research is challenging because of the small number of people the disorder affects. This means it can be difficult to:
Researchers get around these constraints by collaborating with each other and pooling data. People with PHTS can help by getting involved in research and by raising awareness of the condition. The more people that know about PHTS, the more attention and money it will receive from funding bodies and governments.
People with PHTS can help by...
A patient registry is a database containing clinical information, systematically collected, about people who share a condition. They can be used to find people who might want to take part in clinical trials and to collect data on how people respond to treatments.