The birth of a child is often awaited with much anticipation, preparation and excitement. But when parents give birth to a child with a serious illness that has not treatment or cure, excitement soon turns into disappointment, anxiety and grief.
World Rare Disease Day is an annual observance day held on the last day of February each year to raise awareness for rare diseases and improve access to treatments and medical representation for individuals with rare and genetic diseases and their families. Today, Friday 28 February 2014 marks the seventh annual World Rare Disease Day. A variety of awareness raising activities around the world are planned for this day. One activity is to have a day where everyone in your organisation or institute is asked to wear a ‘Wear that you care’ sticker and their favourite pair of jeans to work for the day. The website www.globalgenes.org has more ideas.
What is a rare disease?
A rare disease is any disease that affects a small percentage of the population.[i]
- There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day.
- It is estimated that 350 million people worldwide suffer from rare diseases.
- 80% of rare disease are generic in origin, thus are present throughout a person’s life, even if symptoms do not immediately appear.
- Approximately 50% of people affected by rare diseases are children.
- 30% of children with rare diseases will not live to see their 5th birthday.
- Rare diseases are responsible for 35 % of deaths in the first year of life.[ii]
Thabo was born at a community health centre in Bloemfontein but did not cry or breathe. He was immediately transferred to an academic hospital, where, after numerous tests, his parents were told he suffered from a rare neurological disease affecting his brain and muscles. There was no cure or treatment for his condition and he was on a ventilator to support his breathing. After long discussions, his parents agreed to remove him from the ventilator but Thabo continued to breathe. He was then referred to the palliative care team which initially kept him in their in-patient unit because his parent’s house did not have water or electricity. After a month his parents were enabled to care for him at home, supported by palliative care trained community health care workers. Seven months later Thabo died peacefully at home in the arms of his mother, as a result of the support provided by the palliative care team support for him and his family.
Palliative care for rare diseases
Due to their nature, rare diseases are often misdiagnosed or diagnosed late and there’s often no treatment as a result of lack of scientific knowledge and information[iii]. This often results in immense suffering of the child and family which may last for many years. If the condition is life threatening or life limiting, palliative care should be offered to these children and their families in order to relieve their suffering.