Rare diseases were challenged in California this week as part of a global movement. The worldwide Rare Disease Day movement will hold a public event at the California State Capitol to raise public awareness of a situation that affects one in ten people. The event is supported by Assembly Member Kevin Mullin, and the aim of the day is for the people of California to learn more about these conditions, talk to professionals from assisting organizations, speak with representatives and health care industry officials, and hear from those living with rare diseases.
The US interprets a rare disease as one that affects less than 200,000 people, which means 7,000 diseases fall under this banner. In turn, the 7,000 rare diseases in the US affect almost 30 million americans.
Nearly all of these conditions are caused by faulty genes. Genes being the molecules in DNA that we inherit from our parents. The meeting is intended to make sure everybody knows that they have at least one person with these issues amongst their friends, and probably many more in their community.
The majority of people suffering from these diseases are children, and they are forced to cope with a condition which is typically serious and lifelong. What is more frustrating for sufferers is that here are no known cures, and most conditions are not even being investigated. Support offered by healthcare professionals typically becomes a series of medications that treat the symptoms of the disease, and achieve nothing more. This leaves the suffering fighting the disease for their entire life with little hope of a cure. Often the illnesses are complex, involving autoimmune responses and need significant medical analysis to mitigate.
One of the biggest problems with rare diseases is that new mothers can often be hit by the news out of the blue shortly after giving birth, when adverse health conditions start to appear in new-born children. The parents then face an uphill struggle to find treatment, because unlike diagnosis, treatment is hard to find. Often the solution comes down to parental networking through support groups that exchange useful information over the internet.
One of the Key Attendees at the event was the National Organisation for Rare Disorders (NORD). NORD’s mission is to campaign for primary research into rare conditions, make sure that access to important sources of care remain available, and that politicians are responsive the needs of rare disease sufferers. NORD also works with its european partner, EURORDIS, who is organising worldwide events in 65 nations to publicise the plight of rare disease sufferers.
Another important support organisation is The Global Genes Project. The group is intended to bring suffers, who outnumber AIDs and cancer sufferers combined, together to drive research that can deal with the genetic problems they face on a daily basis.
Rare Disease Day is also coming at a significant time with today’s sad death of Harold Ramis, who himself suffered from the rare disease of vasculitis, which causes inflammation of blood vessels. This inflammation can lead to tissue damage and eventually organ failure and death, which appears to be the case in the “Ghostbuster” star’s illness.
In the meantime until a greater set of cures are available rare disease are being challenge in California with World Rare Disease Day.
By Andrew Willig