The Zebra Syndrome

Oh damn! This one wants to talk about black and white striped horses now!?! Well, no…. Actually, I want to write about a little-known syndrome since May is its awareness month. Ugh, who would ever be interested in an article about sick zebras? But it's not about zebras. What does this animal have to do with anything then? You will soon find out by reading.

The pathology I’m dedicating this article to is called EDS (or Ehlers-Danlos Syndrome). This is a rare condition caused by a genetic mutation that affects connective tissue, a complex mixture present in every part of the body necessary for support, protection, and structure of organs, storage of fat, movement of nutrients, repair of damaged parts, and much more. Ok, but why is it also called Zebra Syndrome? Because there are multiple variants of EDS—13 types to be precise—all different yet the same. Wait a minute… what? How is it possible to be different but equal? Think back to the zebras. They seem all the same, but if you take two at random and study the stripes closely, they are different (sometimes they differ by a little, while other times by a lot, like fingerprints)! If you haven't understood yet, which is understandable, I'll try to explain myself better. I was writing about defective connective tissue… let’s continue from here. In every person, the most abundant protein is collagen (and guess what, it is found right in the connective tissue). In people affected by Ehlers-Danlos, this collagen is damaged. But why? As we all know, DNA, which contains all the information to make the organism function, is composed of multiple genes, each responsible for the production of a protein that has a certain role in our body. In "zebra" patients, the collagen genes are not correctly structured and consequently produce collagen that doesn’t want to carry out its task. And if collagen doesn’t play its role (it does not guarantee resistance and compactness to the connective tissue), much less does the body function properly. There are 13 collagen-coding genes in us, and since they can all undergo variations, the subtypes of EDS are the same number (13). An affected patient may have one or more of these types and therefore present different symptoms from others (furthermore, each body acts differently, also based on the presence of other diseases). So… same disease, same problem, but non-identical (similar) causes… different variants (and combinations), an almost infinite amount of symptoms different from person to person, and personalized therapies (not always existing, though). And therefore, as I have already said, patients are like zebras, all the same but also all different.

If I were you, I would wonder what one of these rare people feels. So here are some of the things they have to deal with (for life, because it’s not a passing disease but an uncorrectable genetic condition): Generalized hypermobility; instability of the joints (sprains, dislocations, subluxations); bone fragility; stretchable and delicate skin with a velvety appearance (bruises constantly present together with stretch marks, difficult healing, atrophic scars, transparency, and consequent clear vision of vessels everywhere…); tendency to herniations, organ prolapse, and high risk of internal lacerations; excessively curved back (scoliosis and kyphosis); weak muscle tone (hypotonia, with very frequent cramps, contractures, and spasms); vision problems (myopia, astigmatism, strabismus); dysautonomia (like POTS syndrome, which is very particular and which if you want, I can write about in another article) accompanied by low blood pressure, hyperactive adrenaline, high heart rate, dizziness…; chronic pain; gastrointestinal problems; constant fatigue; flat feet and difficulty walking; dental problems; arterial fragility (aneurysms and dissections); short stature; swelling and inflammation; TMJ; tendon problems (rupture); heart failure; numbness and tingling; severe headaches; asthma/allergies; problems metabolizing medications; brain fog (difficulty concentrating); vitamin deficiencies; photosensitivity; Raynaud’s; arthritis… and too many other problems to list.

Due to its uniqueness, the diagnosis of this pathology is very complicated, and those with Ehlers-Danlos usually have to wait a long time before actually understanding the causes of their suffering. These are patients who, since childhood, have gone to the emergency room more times than to commonly visited places, who have spent more hours in hospitals than at home, who for a long time were not believed by doctors and accused of insanity, who had in 99% of cases a psychiatric consultation first and only then a genetic analysis despite the clinical evidence of the disease, who even after medical certifications do not receive help due to the lack of knowledge (despite the fact that there are no treatments still existing for a genetic disease, with correct tests, temporary therapies capable of alleviating some symptoms can be prescribed). It is to be admired how these people, despite the exhausting syndrome, the suffering, and the difficulties, continually get up and give their all every day to fully experience every little happy moment of life. …And yet there is no shortage of ignorant people, always ready to make the existence of a person with Ehlers-Danlos as tiring as possible. The most painful thing (which after a while you get used to) are the comments, some "harmless" and some really offensive: “I wish I was that flexible.” “Well, maybe if you prayed more….” “Pain makes you stronger.” “Maybe if you lost weight/gained weight you’d feel better.” “It can’t possibly be that bad.” “At least you don’t have___.” “I sprained my ankle, I feel like you/I know how you feel.” “You were fine yesterday though/You don’t look sick.” “Dr. X says___.” “It's all in your mind.” “You complain so much that you won't do anything else in life.” “If you exercised more, it would help.” "I don't believe the bullshit you say, you exaggerate." …. Pay attention to your words, educate yourself, and make others aware too. Some need braces, crutches, wheelchairs… others just need the understanding of those around them because invisible is not synonymous with non-existent. We are always talking about a better world, but always referring only to pollution/climate change, war, and inequalities due to religion, skin color, and culture, and not to mistreatment and the urgent need for humanity, empathy, and solidarity towards those with health problems.

Do you remember that in the last article I wrote that I would make a confession in this post? Well, my dearest readers, this writer also suffers from Ehlers-Danlos syndrome! This has knocked me down many times. I've experienced things I never want to experience again and felt pain I wouldn't wish on anyone (not even my worst enemy). But one thing is for sure, I will never stay down. I will ALWAYS get back up. I will never, never, NEVER give in. I am zebra strong!

My heartfelt wishes to all of you for a happy summer holiday. See you again!

Today's Blogger

Hi everyone, for those who don't know me yet, I'm Marina Lostun, and I'm a student at the Braschi-Quarenghi high school. This bio is too short to contain all my interests, so, dear readers, you will discover them all gradually by reading my articles and posts. However, although I really like the idea of leaving you hanging, for now, know that I love travelling, nature and helping others.