What are you thinking about?
Okay, so this will be a rathr rambly post, as I also want to fill you in a bit and get some stuff out.
Today in general I’ve been thinking a lot about Sofi as I’m kind of worried about her and so is Mum. You see, Sofi is very slim, and very tall, and she keeps growing, even though she’s already like 180 cm. She also has long bones, long limbs and rather weak joints and muscles. She has done several different sport disciplines, but she hasn’t developed much muscle as a result and was always super quick to get injuries and stuff from it. The last time she tried some new sport (athletics) she ended up with a really painful ankle after just a few days of training, which had to rest for two weeks. People (but especially my Mum, who, also being very tall, I think has some unfulfilled ambitions of her own regarding doing sports as a teenager) have always pushed her to do sports because she’s so tall and fit and in this day and age where kids spend ages glued to their phones it’s the best thing for a kid to do. And Sofi seemed into it herself, but since that athletics episode it looks like she’s had enough and my Mum is no longer pushing her either.
Due to all those injuries, and sometimes without any obvious injuries at all, for many years Sofi’s had all sorts of aches and pains, mostly in her knees. I think everyone here has lost track of how many times she’s had her knees checked by doctors/physios, she also had knee braces several times. But with the exception of times when she had some obvious injury that she could recall herself, everyone has been saying, that it’s just “growing pains” and/or that she needs to put on some weight. I don’t know, I way less than her and I don’t really know what it’s like having joint pain, and I’ve never had anything broken, so I’ve no idea what’s weight to do with it. She’s had several bones broken, but also had her fingers in splints or however this thing is called in English several times, and I don’t know any other person, or at least am unaware of it, who’d ever break their finger, let alone as often and as easily as Sofi. But people have always said it’s nothing abnormal because our Dad has also pretty fragile bones, he’s also similarly built, and he’s had dozens of fractures when he was younger, including once breaking his ankle simply by tripping on a doorstep. I’ve honestly always thought that her pain tolerance must be very low or something because whenever she’d play with someone more dynamically, everything would hurt her and sometimes it seemed quite out of proportion, so that sometimes my Dad made fun of her and asked her to name all the places where she’s hurting, and she’d always have a few, but then as my Mum says if nothing hurts you, you can’t be alive, right?…
Sofi has like a double room, one part of this room is just like a normal room, and then there’s a hole in the wall and you can go in there and it’s like a little cave or something, like a mini room inside of that bigger room. Sofi reallyy likes it and has always spent a lot of time there. And earlier this year she decided to move her bed in there, or rather move the bed out of her main room and put a mattress into that mini room. That mini room, however, didn’t have a window, so one had to be put in there if she was to sleep there. Sofi really liked her new, cosy bedroom and always said she likes to sleep there way more. But then summer came and then a heatwave and it turned out that the little window doesn’t really change much, and even with a fan on her bedroom was always flamin’ hot. So she slept in my room for the time being, as I have AC and blinds here that make life in heat more bearable now, but since it was so hot and clammy we definitely didn’t want to sleep together in one bed. And I certainly didn’t have the space here for Sofi’s huge matress. So she had to make herself a makeshift bed. That was a huge ceremony as she couldn’t make it soft enough while not being too hot. She woke up in the morning complaining of a very painful hip, saying that her bed was still too hard, or maybe it’s her hip that’s too hard and now got bruised. She really had a huge bruise on it and I was quite puzzled that you could get yourself something like this when sleeping on such a load of sheets and blankets, plus Misha’s lamb skin, on the floor which does have a flooring. But then we managed to discover the culprit – on the floor, under all those layers of bedding, there lay Misha’s little iron ball – like the ones in car bearings. – Sounds like Sofi’s the real life Princess on the Pea! 😀
But the next night she slept at me, she woke up with even worse hip pain, so that it hurt her even when something or someone touched it a bit more firmly. And there was no ball to blame this time round.
The bruise took long to disappear, but it finally did, yet the pain hasn’t until this day, even though it’s been a month. So a couple weeks ago Mum finally took Sofi to the doctor to refer her for an xRay or something. Sofi’s previous paediatrician has recently retired so they visited this doctor for the first time ever. And, as Mum said, that was a very good thing, because she looked at Sofi from a fresh perspective, rather than “Ah, it’s this tall girl who’s always hurting”, and in her opinion it might be something else entirely than growing or thinness that causes Sofi’s constant pain problems, along with fractures and unstoppable growth.
She apparently had a long, thorough look at Sofi and said she thinks Sofi might have something called Marfan syndrome. People with this condition are usually very tall, very thin, have looong fingers, little muscle, fragile bones, often some problems with posture, very flexible joints, are near-sighted and have various heart problems and probably a dozen other things. Everything from what I mentioned except heart problems sounds very much Sofi. And even though Sofi herself doesn’t have heart problems, my Dad has hypertrophic cardiomyopathy, and like I said he has the same kind of body shape. My siblings and i have all been tested whether we have cardiomyopathy too but so far no one of us does, including Sofi. However sometimes when Sofi’s tired or stressed she complains that her heart aches, and sometimes it seems like she can be in a fair bit of pain from it. I would think that’s also abnormal, because I’ve never experienced heart pain, but my Mum says it is normal that people can have heart pain when they’re stressed so we’ve no idea if Sofi’s within the norm or not.
The only other time I heard of Marfan syndrome before was shortly before I was supposed to be checked for that cardiomyopathy thing myself, I could have been 17 or thereabouts. I was about to go ride on my horse and my Mum was explaining to my instructor that I won’t be able to come next week at the same time because I’ll have the cardiologist appointment, and my instructor suddenly got all panicky: “Oh! Why?! What’s going on?! Do you have some heart condition that I don’t know about?” so of course we assured her that no and that I’m just getting tested because of Dad’s illness, and she was all relieved and said she was just worried because she had another girl she worked with who had some sight problems and was slim and “tall like you” and she had Marfan syndrome, and apparently generally horse riding is a no-no when you have this. Fyi, I’m not really tall, I’m only 168 cm and I actually have hypopituitarism which essentially means that I had to get growth hormone injections as a teenager to grow beyond 140 cm, and before I started taking it I was short and plump. My endocrinologist, who was short and plump herself, wanted me to grow more and more and more, “So that you’re tall like your Mum”, but thankfully my Mum put a stop to that before it was too late. But as I started taking it, suddenly everyone, especially at my school, was “Omg you’re so tall!!!” and neither me nor my family could understand why so it always made us laugh, because if I was tall, what sort of giant Olek must have been to them, when he’s over 1,90. 😀 I suppose it must have been people’s autosuggestion because well, my Mum is tall, my Dad is tall, everyone else from my family who had ever been to my school is tall, plus I suddenly got a lot slimmer on that hormone so I guess slim people look taller than they are. Now hardly anyone still says that to me but my riding instructor happens to be very short, so she always goes on and on and on about how she’d like to have long legs like mine for riding etc. I actually do have very long and thin fingers, long fingers can be useful, but mine aren’t quite as long as Sofi’s, and like her I am also a lot more physically similar to my Dad and his family rather than Mum’s, but thankfully I haven’t got his bones. One time when I was at school, one of the boarding school staff was mentioning something about Britney Spears to my roommates and me and how she can throw her legs behind her head. I never did it, and I’ve never been particularly sporty or anything, but I thought to myself that it can’t be that difficult, and I decided it would be a fun idea to try and find out if I can do it myself, so that was what I did right there, and she was quite amazed that I can do it and freaked out and urged me to stop, saying that I’ll stay like that forever lol, even though it wasn’t much of a problem for me to do it at all so I wondered why so much fuss. 😀 But apparently not everyone can do it, so I sometimes did it just out of the blue, in favourable circumstances, to see how people would react, especially if I wanted to avert their attention from something else. I’d put my legs behind my head and rock in this position for a while like I was deadly bored and this was as good a thing as any that I could do in such situation, and people would often start yelling “Aaah what’s she doing?!” 😀 But when I tried my little trick on Dad he wasn’t surprised at all and said he did that too when he was younger. But can no longer do it. Interestingly, neither can Sofi and she never could, even though she’s way better at all things fit than me, so she’s envious, even though she can do all the typical things that people with Marfan’s apparently should be able to do like clenching your fingers in a fist and sticking your thumb out the other side. For me and Olek only a little bit of our thumbs go out, but Sofi can stick out half of her thumb. When I was a child people would also often comment on how I do weird things with my fingers that they wouldn’t be able to do, but about which I didn’t even think. Yet like I said, I’ve never had the aches and pains, nor heart problems, and I have nothing wrong with my eyes as such, only optic nerves, so I guess I only have some similar features. That makes me wonder if Sofi also just has similar features, or is it seriously a full-blown illness, even if she’s never had a surgery or anything like that?
So, going back to that doctor, Sofi got a referral for the hip xRay, but also for genetic testing for this weird thing, which is going to take place in February so she still has ages to wait and in the meantime my Mum is getting really worked up about whether Sofi has this or not. Initially we thought it’s probably a false alarm because despite all these aches and pains, plus Sofi being a bit near-sighted, it’s not like she has a lot of health problems, she has nothing wrong with her heart. Mum read that in the past, where there weren’t so many surgeries that now help people with this condition to lead long and as healthy as possible lives, people with this syndrome would die at about age 30. Well, if we assume Sofi has it, then my Dad has it even more definitely, and he only needed one surgery which has dealt with the problem quite well, and he doesn’t have quite so many problems as it seems people with Marfan’s typically have. But then I guess it’s a spectrum and people may have more severe or milder symptoms, but it’s still the same condition. I’m just not sure what to think. I guess I could not think about it at all until we know, but my brain doesn’t like to not think, so I hardly have a real choice.
At the beginning, as much as Mum was quite depressed and anxious about the whole thing, Sofi seemed quite happy. Soon after Mum told me the news and we talked it through, Sofi came to me all happy go-lucky and said: “Bibiel, guess what? The doctor said I have morphine.” She couldn’t remember what that thing was called, but as soon as she said “morphine” she knew it wasn’t that, and she knows what morphine is, so we both were laughing like crazy. 😀 So I asked her what this morphine is all about, as I didn’t want to show that I already knew about it from Mum, I wanted to know how she understood it and how she felt about it. And she said that it’s something that makes you tall and thin and makes your joints and bones and muscles hurt like hers and makes your fingers real long (whereupon she proudly presented to me how her fingers actually meet the criteria and how it’s so cool), and sometimes it screws your heart up. So I asked her what she thinks about it and she said it’s actually quite cool, because she doesn’t have any heart problems, and she no longer wants to do sports anyway, and this will be a good way to respond to people who make stupid comments about how tall she is. “Yeah, it’s ’cause I have morphine”. 😀 And it’s a fun random fact to tell people about yourself. Sofi has fairly recently started her YouTube channel and has wanted to do a facts about me video so I could see how such a super weird fact would be valuable.
But her hip kept hurting, and when she had an xRay it didn’t reveal anything at all. The xRay lady was also apparently real nasty to her, pressing her hip really hard, I guess not intentionally, and when Sofi winced she asked: “Does it really hurt you so much?” No, for flip’s sake, why would you think so? I just like getting xRays y’know? I had one half a year ago but it’s so much fun, and I was kind of bored so Mum thought we’d go and have another one. That wasn’t what Sofi told her, of course, just my brain’s allergic reaction to bullshit.
But a few days after the xRay, Sofi’s hip has started to hurt even more, so that she even finds it difficult to fall and stay asleep, and even if she herself touches the hip lightly it hurts like crazy. Even the seatbelt hurts. So when it started to hurt more she once came to me and, with a lot more concern than before asked: “Bibiel, what do you think, do I have this morphine or not?” “How would I know such a thing?” “I know, but what’s your instinct?” I said that my instinct is (or was, at the time) that she doesn’t have it, because she’d have way more problems with her health, and so would Dad. It’s honestly a difficult thing to have any gut feelings about since I barely have a clue about things like that. Last night Sofi’s hip hurt particularly badly because she bumped it accidentally with her elbow, and she couldn’t fall asleep. And I asked her if she wasn’t prescribed any pain killers for it at all. Sofi said no, because there’s nothing on the xRay. Holy shit, what sort of logic is that? I don’t know, obviously I’m not a doctor, but if I were, my dr Bibiel logic would be, if a patient has a lot of pain and she can’t sleep, especially if she’s a kid, and I can’t figure out what’s causing the pain, and the xRay doesn’t show anything, I’d at least try to relieve the pain if I’m absolutely sure that nothing else can be done to actually deal with the cause of the pain. Besides, yes Sofi will have that genetic testing in February, but couldn’t they keep looking for a direct source of the pain regardless? I don’t know, ultrasounds, whatever is used in such cases? I shared my reflections with Mum today morning, and she’s going to get Sofi to have an ultrasound soon, but we both think that this should have come from the doctor. We don’t even know if ultrasound is indeed the next thing that Sofi should have, it was just the first thought that popped into my head so that’s the direction in which Mum’s going first.
But what worries Mum even more than Sofi’s hip pain is her growth. My Mum is very much into hormones, as she’s going through menopause herself and has been trying to figure it all out and help herself with her very obnoxious symptoms. She uses natural progesterone and estrogen creams, tries to eat healthily and uses other things that help with hormonal balance I don’t even know what they are, reads books about hormones in females and generally educates herself in this regard all the time. And, since she already has some experience with me when it comes to hormones and growth/puberty, she started wondering right after Sofi got this potential diagnosis, whether/how Marfan syndrome may affect hormones, since people with this thing are so tall. She found that, while unlike what she thought Marfan syndrome isn’t directly linked to hormones, apparently what endocrinologists do with girls with this syndrome when they keep growing and growing is they give them estrogen to trigger menstruation, and that apparently stops further growth. I didn’t even know there’s such a relationship between menstruation and growth and that as soon as the former starts the latter is over. The way I put it is probably very simplified and maybe even not entirely correct but that’s just the gist of it. Apparently girls with Marfan’s also tend to start their periods later than average, which would be true for Sofi, who is 14 now and still hasn’t got it. Since Sofi is 180 cm now, Mum, who is exactly the same height and not particularly loving it, really doesn’t want her to grow even more, because it’s so impractical, so she gave Sofi the estrogen cream and instructed her how she should use and dose it. I’m not sure whether it’s a good thing the way she does it, just based on her own research. I mean, she’s surely very knowledgeable by now, but her knowledge is mostly limited to how hormones work in middle-aged women and it would suck if she screwed up something with Sofi’s hormones really bad just because she no longer wants her to grow.
Mum’s getting really neurotic about it all, which I can’t really blame her for. And today she went to do her nails, and spilled out some of her worries at the beautician, who was oh so helpful. I mean, I’m sure she meant very well, but she only worked my Mum up even more. My Mum explained to her how she’s worried that Sofi still hasn’t gotten her period, and keeps growing, and that Mum doesn’t want her to become a giraffe, and is worried that she still isn’t menstruating for so long. And the beautician said that she also didn’t menstruate for very long, so her mum took her to the gynaecologist and it turned out she had polycystic ovaries, so she’d advise my Mum to go get Sofi checked out as well. Uhhh… Mum came home and spent an hour flicking through her books, trying to find stuff about polycystic ovaries, and since all her books concern mostly older women, it seems like a lot of what she’s read is quite depressing.
I highly doubt (for what gut feelings are worth) that Sofi has this particular thing. I don’t think I got my period earlier than Sofi. I’m probably not the best example since according to my endocrinologist it was not certain if I’d ever have it, but still, I guess 14 is too early an age to wail over lack of period. But since I usually pick up people’s moods super quick, I’m feeling worried too. So that’s why I’m thinking about it.
How about you? 🙂