💾 Archived View for magda.cities.yesterweb.org › gemlog › 2023-11-21.gmi captured on 2024-02-05 at 09:26:32. Gemini links have been rewritten to link to archived content
⬅️ Previous capture (2023-12-28)
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At the time of writing this, I came back from my second appointment at my new dentist. Next year I'm set to have a cyst removed and my "gross tooth", which is a completely abnormal front tooth that has been bugging me for over a decade, either treated (for a huge price) or removed entirely (the cheaper option).
Overall, my dental state has always been rather poor, despite care. Unfortunately, it didn't help that all of my previous dentists and my orthodontist didn't bother to treat me properly – what I've experienced so far might get its own post in the future because it's... really THAT much that went wrong. The issue is, though, that my teeth aren't the only issue, yet only one can be easily diagnosed by just looking at my hands, which regularly demonstrate that I inherited rheumatoid arthritis from my mother's side. This, however, doesn't explain the other health problems I've had, so far. By sheer accident, I just came across a rare genetic defect that would explain the vast majority of them.
I already had my first rash as a toddler, which was merely treated with some antibiotics. Around the age of 7, I started to develop a tremor mostly affecting my hands, later my legs and, during my appointment to apply for a new ID, my neck – the latter has only happened once and never again since then. My eye sight has always been on the poorer side until I began to develop astigmatism in one of my eyes, which still seems to progress but at a much slower rate than during adolescence. At the same time my hands began to shake permanently and my eyes to get worse, one of my two large birthmarks began to grow into a tumor and I went to a dermatologist to have it removed at age 14.
Meanwhile, one tooth never developed and another, the gross one, developed unusually late and took several years to break through. X-rays reveal that it doesn't have a proper root and appears to be connected to a cyst, which only recently has started to grow in size. The spae of the tooth is unusual, as well: it resembles a long drop, rather than an incisor. Today's sensibility test confirmed that this tooth is dead... and probably never was alive to begin with.
This joke of a bone, on the other hand, is a common symptom of a rare genetic defect also known as "Bloch-Sulzberger syndrome", a condition inherited in an X-linked dominant manner. My mother told me that she once gave birth to twins, both of which were male. The first died shortly after birth, the second roughly a month later. Years later, she had a miscarriage and the hearth of the fetus suddenly stopped beating, which happened so fast that my mother didn't notice it until she began to develop typical signs of the immune system attempting to rid the body off the dead fetus.
But here's the catch: This disease is so poorly understood that it's not even known how much the symptoms can vary. Many patients with Bloch-Sulzberger develop seizures and/or intellectual disabillities, which I certainly do not have. Another issue are the "eye abnormalities", which currently only list issues affecting the iris. I also lack the high amount of nevi, which is the most common symptom, and I only developed two large birthmarks, of which one already had to be removed.
But this damn tooth that has been giving me some self-esteem issues is only known to be almost exclusive to this genetic defect; this tooth runs in the family, too, and this is where things gets even more confusing.
One of my cousin has got the exact same tooth and my mother let me know that he suffered from "seizure-like symptoms" during his early years. But this would mean that he would have inherited from his mother, who is not biologically related to me and not even my legal aunt (just a long-lasting affair of my uncle), and instead from my uncle. Males carrying the disease automatically result in miscarriages, so if he really inherited from his father's side, he must have been exceptionally lucky to have survived. As my mother added, it did look like that they often had to fight for his life the first years after his birth.
His symptoms are mostly different from mine. Both of us only got in common that we both have very similar teeth issues and no mental disabillities (in fact he's as smart as me). The rest doesn't match and other issues he either experienced or lacked are unknown to both my mother and I, so I'll have to do some more research.
Still... as much as I could get the required tests done to confirm or disprove my worries, I can't deny that this discovery is making me anxious. It is not because I want to have children at some point in my life – hell nah, I'm not made for this at all. It's more the realization that so many of my prominent issues have been largely dismissed and ignored, despite seeking out professional help. My dermatologist reluctantly removed the growing birthmark that was all too prominent on my damn head. The rash initially caused my first family physician to get mad at my mother before calming down to realize that it's not a result of poor hygiene but "a possible allergic reaction" (which also appears to have been a misdiagnosis). Dentists and my orthodontist obviously take the cake in terms of "poor treatment" (or rather "no treatment at all but regular yelling and complaints about my weak hygiene, which was nothing but a result of my first dentist repeatedly criticizing me).
My last family physician, which sadly retired a few months ago, was the only doctor to notice something fundamentally off. He was the first doctor to not blame my tremor on psychological issues; he speculated that it might be a result of "familiar tremor", another inheritable disease caused by the brain stem "overfiring" during physical and mental stress. Neither my pulse, not my heart rate showed any signs of nervousness during doctor visits in particular, yet the tremor always makes everyone assume I'm on the verge of panicking (funny enough, my blood pressure often is way too low). Due to his retirement, we never will get to do the tests and I first have to look for a new family doctor – all doctors in my area no longer accept new patients.
Since both rheumatoid arthritis and Bloch-Sulzberger cannot be cured, even a proper diagnosis wouldn't change anything, as I already do get individual symptoms treated. The pain in my hands and knees seldom needs to be treated with painkillers and deformation of several of my fingers and my knees are slowing down radically after a sudden boost.
The remaining birthmark hasn't changed at all and I haven't developed any new beauty marks; my eyes have also settled with mild myopia on both sides, with only one eye being noticeably but not uncomfortably worse off than the other. My teeth finally get treated by a dentist knowing what he's doing and I've been recommended to a proper surgeon that will first take a close look at this... drop and its neighboring cyst before determining an adequate course of action.
The genetic defect, however, will remain, and the only upside to this is the fact that I never wanted children to begin with, not even after learning that I should get my hormones treated for being a little more on the masculine side.
Back to business.