Hi there Steemians! It's been two weeks since my last article, but do not think I'll leave for 3 months again (at least, not now), I just returned to classes. The last couple of times times this has happened I have had to stop writing for months, but this time I will try to distribute and organize my time more efficiently to avoid that; writing is my favorite hobby, and it has become a way to lay off steam in the moments when I feel that stress consumed me. So while the frequency of my posts may decrease, I assure you, I am here, and I will remain here! Without further ado, I leave my most recent article, and as always, I hope you enjoy it!
We are all afraid of something. Some fear the dark, others are afraid of clown, and others fear the unstoppable passage of time that is slowly guiding us to our inevitable death; I belong to the last group. Knowing that we all come with an expiration date can cause us some existential anguish: it matters little what we do with our life, we will all grow old and, except for illness, accident or suicide, we will die of old age, and there is nothing we can do about it, as the old saying goes, life will indeed kill you. However, at least we have a small consolation in the fact that the average life expectancy is more than 70 years, and is increasing with the passage of time and the advances in medical science. Someday a 60 years old will be considered young, and it will not seem strange for him to go out partying at night and post everything to his Instagram stories. Science is truly a remarkable thing.
But, what if we do not grow old at a normal age? What happens if we begin to wrinkle and lose mental agility years earlier than we should? If at the tender age of 30 our bones are more fragile than a teenager's self-esteem and our hair starts to fall out? Well, it is not that we are victims of some gypsy curse (if you notice that your food starts to bleed, however, surely that is a curse), we only have the bad luck of suffering from Werner syndrome.
Most of you have surely seen The Curious Case of Benjamin Button; about a child who is born with the physical appearance of an old man and who ages in reverse; dying with the appearance of a child (spoilers, by the way). It is not necessary to know much about medicine to know that it is not a very realistic plot, we all know that Brad Pitt, although he is aging in reverse, was born young and perfectly normal; Titanic proves it. But the truth is that an infant can with the appearance of an old man, due to the action of a genetic disease called Progeria. Those who suffer from this disease are born, at first, apparently normal, but after one or two years of age they begin to undergo physical changes very similar to those that occur during old age, such as hair loss, wrinkle formation on the skin, hearing loss, and may even develop heart diseases.
Unfortunately, children with Progeria do not begin to age in reverse after the symptoms manifest. There is no cure or treatment, so they rarely survive beyond 12 or 13 years. We can think that our time on this Earth is short, but compared to these poor souls who had the bad luck to lose the genetic lottery, the truth is that we have time for everything that we may propose ourselves.
However, if we manage to age two years of age and retain our youth, we are safe, right? Well, I would not be entirely sure; as I have already made abundantly clear in this series of articles, nature always finds ways to make our existence miserable, so even if you get to adolescence having a medical history free of disease, one day you could wake up looking older than your grandfather. It is not the beginning of a romantic comedy about the fact that love has no age, it is only the start of a life of suffering as a one more victim of a rare variant of progeria: Werner Syndrome.
This rare disease is caused by a mutation in a gene called WRN, which is located on chromosome 8. It is transmitted in a recessive autosomal manner, that is, both parents need to be carriers of the mutated gene, regardless of whether they demonstrate the symptoms or not. Its symptoms are quite diverse, as in all genetic diseases: they can be noticed from birth, since children with Werner syndrome are usually somewhat thinner than normal, with arms and legs slightly longer and with less adipose tissue, and usually grow more slowly and until a younger age than normal, reaching their maximum height as early as the age of 10. But the most notable changes occur around the beginning of the second decade of life, when patients wake up one day with gray hair, wrinkles, and a taste for oatmeal and pictures of cats with happy and encouraging messages.
I exaggerate, of course; the changes are not so fast. But in fact, since the age of 20 those affected by Werner syndrome begin to lose the ability to generate melanin in the scalp, causing graying of the hair. Then, their voice becomes hoarse and deeper, their skin becomes thin and with a texture similar to leather, like that of those who suffer from scleroderma, and it begin to wrinkle, and they start to suffer from alopecia (hair loss) both in the scalp as in the eyebrows, eyelashes, armpits and pubic areas. It is believed that this hair loss may be secondary to hypogonadism (defects in the organs that produce sex hormones), which also usually causes male patients to have a penis and testicles smaller than average, and that women have underdeveloped and immature breasts and sexual organs, together with abnormalities in the menstrual cycle and sometimes infertility.
As the syndrome progresses, the afflicted develop more debilitating conditions such as muscle atrophy, osteoporosis, premature tooth loss, soft tissue calcification, and cataracts that may occur in both eyes. Due to changes in the skin and atrophy of the facial muscles, patients often have a facial structure that is described as "bird-like"; bulging eyes, protruding ears, and a thin, hooked nose. Complications such as Diabetes Mellitus (type 2 diabetes occurs in 70% of patients), coronary heart disease, and arteriosclerosis (thickening and loss of elasticity of the arteries) are common, the latter being especially frequent and able to cause angina pectoris, myocardial infarction due to ischemia (lack of oxygen to the heart), heart failure and ulceration of the skin, commonly in the extremities and which may require amputation of the affected limb. In addition, the predisposition to all types of cancer is greater than in healthy people, being one of the main causes of death for those suffering from this syndrome, along with heart attacks. People with Werner syndrome only live until they are 40 or 50 years old, on average.
The diagnosis can be done by genetic tests that detect the mutation in the WRN gene, however, in most cases it is through the clinical manifestations. This syndrome may be detectable from around the age of 15, and 6 of its main symptoms are sought to confirm its existence; premature hair loss along with graying hair, presence of cataracts, changes in the skin (hardening and wrinkles), soft tissue calcification, facial appearance similar to that of a bird, and changes in the voice. In addition, the presence of other symptoms and conditions caused by the syndrome, such as diabetes, heart disease, atherosclerosis and infertility also help the final diagnosis.
Being a genetic disease, it does not yet have a specific treatment. The goal is to treat the specific symptoms with a multidisciplinary approach; for example, the diet of patients is adjusted to prevent the development or worsening of diabetes, intraocular lenses or prescription glasses are used in those with cataracts, and cures and skin grafts are made for ulcers, in addition to the use of medicaments for cardiac diseases that may arise.
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