Rare disease day is an important event that seeks to create awareness to the public. In this particular day patients and the world population are educated on how they can handle this diseases so that they can reduce its effect. The day was started in the year 2008 and several people in the world were involved in undertaking different activities. The day is takes place on the last day of February each and every year. Those who are involved in activities of this day have the objective of ensuring that awareness about the rare diseases.
The general public and the decision makers discuss much about the different effects that the disease has on the lives of the patients. The major target of the campaign is the public authorities, researchers, policy makers, industry representatives, health professionals, and all those who have interest in rare diseases in ensuring that they have raised awareness amongst them. It is meant to ensure all stakeholders are equipped with up to date knowledge on how to deal with the disease. When all the stakeholders are involved it means that they will engage in advanced discussions that will bring advanced solutions in handling the rare disease (Jerome, 2007).
Some examples of the Rare disease include:
cystic fibrosis, Huntington’s disease, muscular dystrophies, Acrocephalosyndactylia, Amylose and Brown-Sequard Syndrome. Rare diseases are also sometimes called orphan diseases. One of the most interested Rare Disease is the Huntington’s disease.
Huntington’s disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington’s disease has a broad impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.
Huntington’s disease symptoms:
Involuntary jerking or writhing movements (chorea)
Muscle problems, such as rigidity or muscle contracture (dystonia)
Slow or abnormal eye movements
Impaired gait, posture and balance
Difficulty with the physical production of speech or swallowing
Difficulty organizing, prioritizing or focusing on tasks
Lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration)
Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity
Lack of awareness of one’s own behaviors and abilities
Slowness in processing thoughts or ”finding” words
Difficulty in learning new information
The most common psychiatric disorder associated with Huntington’s disease is depression:
Feelings of irritability, sadness or apathy
Fatigue and loss of energy
Frequent thoughts of death, dying or suicide
Other common psychiatric disorders include:
Obsessive-compulsive disorder, a condition marked by recurrent, intrusive thoughts and repetitive behaviors
Mania, which can cause elevated mood, over activity, impulsive behavior and inflated self-esteem
Bipolar disorder, or alternating episodes of depression and mania
In addition to the above symptoms, weight loss is common in people with Huntington’s disease, especially as the disease progresses.
Treatments and drugs:
1- Medications for movement disorders
– Antipsychotic drugs
Other medications that may help suppress chorea include amantadine, levetiracetam (Keppra) and clonazepam (Klonopin). At high doses, amantadine can worsen the cognitive effects of Huntington’s disease. It may also cause leg swelling and skin discoloration.
2-Medications for psychiatric disorders
– Antipsychotic drugs
– Mood-stabilizing drugs
7-Eating and nutrition
People with Huntington’s disease often have difficulty maintaining a healthy body weight
Difficulty with chewing, swallowing and fine motor skills can limit the amount of food you eat and increase the risk of choking.
All over the world, the Rare Disease Day events are carried out by hundreds of patients and organizations. The work of those that are involved at the local and national levels is to ensure that there is increased level of awareness amongst the communities that they live. From the first day that the Rare Disease Day was started by EURORDIS and its Council of National Alliances in 2008, there has been thousands of events have been undertaken all over the world. This has been able to reach several people, who are estimated to be hundreds of thousands.
The results have been magnificent since the media has been supportive due to its comprehensive coverage. There are several official rare disease day partners that are involved in ensuring that the day is success. They act as partners and also form a national alliance to ensure everything is a success. The bodies are the ones that come together to form organizations in different regions and countries to ensure they carry out successful events on the long run. They carry out this in ensuring that there is sufficient coverage that will ensure everything runs as expected (Zander, 2009).
Since the first event that was carried out, there has been several developments that have come up that have led to making the Rare Disease day very important in the world calendar of events. This has been from the different developments that the stakeholders have yearly come up with making it impossible for it to be ignored anymore. Yearly, there has been new unfolding events that make the day more interesting and viable to the patients and stakeholders. There is a very important link between the understanding the effects of the disease on the patient life. The event yearly has transformed the perception of the disease and new ways of handling the disease have been developed (Zurinsyki et al. 2008).
There is insufficient means of dealing with the rare disease. Therefore, it is necessary that continuous cooperation among stakeholders is necessary. From last year’s events, there is need to make continuous discovery and development of better methods meant to ensure that the disease is better dealt with. There is necessity to ensure that patients are made aware of actions that are going to assist them in dealing with the condition. The other stakeholders who have the responsibility of dealing with this condition should ensure that everything meant to ensure that all the things are in place to make patients comfortable (Luce, 2009).
The day should be undertaken in a way to ensure that those families that have been affected by the diseases are involved. The general public and the decision makers should discuss much about the different effects that the disease has on the lives of the patients. The major target of the campaign is the general public, public authorities, researchers, policy makers, industry representatives, health professionals and all those who have interest in rare diseases in ensuring that they have raised awareness amongst them. All these is meant to ensure all stakeholders are equipped with up to date knowledge on how to deal with the disease. When all the stakeholders are involved it means that they will engage in advanced discussions that will bring advanced solutions in handling the rare disease.
“Focus for 2012: Rare but Strong Together”. EURORDIS.
Luce, Jim (2009). “”Rare Diseases” Increasingly Common, Not Rare for Afflicted”. The Huffington Post.
Parisse-Brassens, Jerome (2007). “29 February 2008: First European Rare Disease Day”. European Organization for Rare Diseases.
Zander, Carly (2009). “VHL Family Alliance Announced Partner in Rare Disease Day”
Zurynski, Y; Frith, K; Leonard, H; Elliott, E (2008). “Rare childhood diseases: how should we respond?”. Archives of Disease in Childhood. 93 (12): 1071–1074.