Coping with Rare Diseases
This is the case of a young girl, who was diagnosed with Gaucher’s disease when she was just five months old. What is this disease about? It is a condition that implies a fatty substance that accumulates in the cells and in other organs. It eventually leads to liver malfunctions, skeletal disorders, bone lesions, serious neurologic complications and as well the swelling of lymph nodes and distended abdomen, a brownish tint of the skin and anemia. Despite of these serious consequences and transformations that happen in your body, scientists do not grant this disease enough attention. It can affect both male and females.
The form of disease that Hannah is suffering from causes brain damage, eye movement and makes swallowing be rather difficult. About 1 in 100 people in the United States are carriers of this disease and despite of this fact, nothing is done to be able to be found any cure. Hannah
has been living with this disease for two year now and the chances of living with it are between two and twenty years. Anyhow, her mother is rather scared what may happen to her child at any moment and expresses her dissatisfaction that: “Unless you have a celebrity who has a personal interest in your disease or you have a ‘popular’ rare disease … there are no big foundations, large fundraisers, or even any interest in assistance,” says Hannah’s mother Carrie. “It’s so hard knowing that there is so little research out there for my daughter, and that because of this, we will likely lose her sooner rather than later.”
Another rare disease that most certainly was not given the proper importance is Xeroderma pigmentosum – it is a genetic disorder in which the ability to repair the direct damage that was made by the sunlight is impossible. In some of the cases, any exposure of the skin to the direct UV rays is forbidden. No matter how little you expose yourself to the sun, you are not allowed to as you will have serious consequences to suffer. The metastatic malignant melanoma and the squamous cell carcinoma are the most common death causes of the XP. Anyhow, this is a form of disease that is mostly common in Japanese people rather than in the rest of the people. The reason for this is their fare skin. There is no medicine whatsoever to help people survive to this disease.
Another such rare disease that is included in that large number of Americans that suffer from them is the Jeune Syndrome. What is it? It is a rather fatal bone disorder that restricts the expansion of some of the organs, it leads to heart and circulatory problems, liver problems, retinal degeneration and as well intestinal malabsorption.
It is estimated that around 250 million people worldwide suffer from such rare disease and those are in a total number of 6,500 diseases. In America, around 200,000 people are affected by these special and rare diseases. And around 8% of the rest of the people will become afflicted with one of these diseases in their lives.
As far as the treatments concern, trying to treat one special disease is in fact a burden to the medical services as they actually do not know what to do in order that they do not harm the patient more. Moreover, it is harder for the families to live with such a person, as they just do not know what to do, to help him and to put a stop to that person’s pain.
Due to the fact that the number of each condition registered is so low, it is hard for the clinics to do a good and accurate research on the problem. But, things are starting to move in this regard, as Dr. Christopher Forrest of the University of Pennsylvania and colleagues from the Office of Rare Diseases Research at the National Institutes of Health, have raised a question to all the nations as they require an establishment of a global-rare disease registry.
This registry intends to represent something in which the doctors that confront themselves with rare disease cases pout their own data and practices of therapies as to serve as a help to other doctors that at some point may confront with the same symptoms.
It is a proven fact that diseases show no boundaries, they can even appear over night and new diseases can appear each day all over the world. It is not in us to know how to treat each and any one of them but we can at least try and raise awareness about it, as at some point in time, something useful for the treatment of it, will be found. A treatment can even be gathered by taking all the data that doctors have made regarding some common symptoms and see what is the best thing to choose to kill all the bad things that exist in your life.
Moreover, this registry would be helpful as well as to start tackling about the rare disease and how to begin a fund raising and as well, a prod dug development.
Due to the fact that drugs and their development are rather expensive, and as rare disease affect a small number of people, pharmaceutical companies have shown reluctance to begin the necessary research into the field of treatment of rare disease; due to the big expenses that this would mean and the little people that would actually use the treatment.
However, only recently have they arrived to the conclusion that they could profit from this by putting high prices on the treatment. This is the case with the Cerezyme, a drug produced by Genzyme and created for the Gaucher disease, which promises to be helping Hannah cope with the illness. However, her parents are making inhumanly efforts to be able to purchase this drug for their daughter. It costs them, 200,000 for a year’s supply.
It is important to raise awareness sin the case of rare diseases as there is nothing more important as living in a world where we could help each other.11