We almost know or hear about the most common diseases like heart attack, cancer, diabetus mellitus, arthirithis, dementia, MS and many more every day from news or worse someone close. These news worries us both for our friends relatives and also for ourselves for our future.
Normally if we do not have anything wrong in our DNA herited from parents and we keep a balanced and normal life, exercising, diet, there seems nothing to worry about those prevalent diseases.
But if so?
I am reading on internet that there are far more diseases not so common actually very rare, say something one in million, but the number of these phenomenon is such a big number when you multiply the occurence number and sort of these anomalies number you end up with even bigger number than everyday diseases. Because the number of nucleotide in DNA (CTAG) reaches almost three billions of pair and the combnation of these letters is infinite. Even though they say not each of these nucleotides and the genes made of from those not functioning for each and every one we may have still too many diseases and anomalys even one of these might be mutated that cause a disease.
The number of known of these anomalis might reach up to several thousands, and very hard to keep track of every one besides to deal with them.
Other problem related these RDs is many of them have not resolved yet. The majority of rare diseases currently have no effective treatment and 8 out of 10 rare diseases 3 have a genetic cause and 99% of genetic conditions are classed as rare. Often rare diseases are chronic and life-threatening. Rare diseases can be single gene, multifactorial, chromosomal or non-genetic.
The European Union defines a disease or condition as rare if it affects fewer than 1 in 2,000 people within the general population. Currently, between 6,000 and 8,000 different rare diseases affect or will affect an estimated 30 million people in the EU. 1 in 17 people will be affected by a rare disease at some point in their lives. This amounts to 5 million people in Turkey.
The Genetic and Rare Diseases (GARD) Information Center is a program of the National Center for Advancing Translational Sciences (NCATS) and funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI) in USA. GARD maintains a list of rare diseases and related terms to help people find reliable information. In the United States, a rare disease is defined as one that affects fewer than 200,000 people.
Most rare diseases lack effective treatments representing an enormous unmet medical need. Rare diseases patients often need highly specialised health care and social services resulting in high costs for their families and for society.
When we get older we begin to hear some of them that affected our close friends, family members because of selective perception and have no idea about them neither what to do. Most of the time one cannot discern these anomalies till they apparently show symptoms and in very late stages. Many rare diseases manifest in childhood, result in a shortened lifespan and lead to a dependency on care
throughout the patients’ lives, causing significant suffering to the patients and their families. Patients affected by rare diseases often spend years enduring a “diagnostic odyssey” before receiving the correct diagnosis, if ever.
PsP-Prograssive Supranuclear Palsy: When I heard that one of my best friend was sick, called him. But before I’d been told that he has some problem of speaking. During our conversation I asked him what was the daignosis and he answered me as “PsP”. I searched on internet to learn about main points.
Progressive supranuclear palsy (PSP) is a degenerative disease involving the gradual deterioration and death of specific volumes of the brain. The condition leads to symptoms including loss of balance, slowing of movement, difficulty moving the eyes, and dementia.
It is a very rare disease which makes about 3-6 in every 100,000 people worldwide, or approximately 5,000 or less in Turkey have PsP; much less than Parkinson.
Dermatofibrosarcoma protuberans (DFSP) is a rare, low to intermediate grade sarcoma that typically arises in the dermis and infiltrates subcutaneous tissue. Due to superficial appearance of DFSP, imaging techniques are not always utilized. However, they may be useful in large or atypical cases. The standard treatment for DFSP is excision of the lesion. Dermatofibrosarcoma protuberans can develop anywhere on the body but is most common on the arms, legs, or torso. DFSP occurs in people of all ages but it is most frequently diagnosed in individuals between 20 and 50 years of age. The tumor can sometimes begin on skin that has been injured by a previous burn or surgery or insect bites. However, the exact cause of DFSP is unknown. Prevalence might be around 1-5 in every 10,000 people.
So after giving a little bit medical infos about the reason I brought the subject here is that we have another friend, out of our namely 7076 class, consisting of around 200 navy officer born around 1955-56, has gotten this rare disease. So the total risk factor for having such a rare disease at the same group should be less than one in a million. Weird!!!
Ankara, 30 Mayıs 2020
 https://en.wikipedia.org/wiki/Progressive_supranuclear_palsy [Accessed 23 June 2020].
 Dermatofibrosarcoma Protuberans: Pathological and Imaging Review. Author links open overlay panel-BilalMujtabaMD-FeliciaWang-AhmedTaherMD-RizwanAslamMDJohn E.MadewellMD-RosarioSpear-SamehNassarMD. https://www.sciencedirect.com/science/article/abs/pii/S0363018820301146#:~:text=Dermatofibrosarcoma%20protuberans%20(DFSP)%20is%20a,in%20large%20or%20atypical%20cases [Accessed 28 June 2020].