Autoimmune Thyroid Disease

An Unfortunate and Lengthy Adventure in Misdiagnosis

My kooky family

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As if my parents didn’t think I was weird enough already, I decided to speak to my Dad about my test score for Asperger’s syndrome. Surprisingly (or unsurprisingly?) this went down better than my comments about cholesterol. I think something actually clicked for my Dad. He started to look quite perky and interested and talked about our family.

I think we agreed my maternal grandmother, Mama, had a few autistic traits. Mama was so set in her routines she could have worn a groove in the space-time continuum. Sometimes I would get on the train and go all the way to visit my parents, and if I was a little late I would miss my Mama visiting them for lunch because she would go off on her shopping routine come hell or high water and not adjust it for anyone. Then she would complain that she never saw me! She had a different routine for every day of the week. Tuesdays was always visiting Arnold, Thursdays was Morrison’s shopping. Wednesday and Saturday nights were always club nights, she always had fish and chips for Saturday lunch…

She had another trait: malapropisms. We had a standing joke in our family about Mama’s inability to name objects using the right word. She was terrible with names. She called all her grandchildren by numbers: I was “number one granddaughter”. She would reel out all of our names one after the other in an attempt to get the right one. I was usually called S., N. and even K. before she got to A. ! She also saw a great significance in numbers. She was always proud of her birthday cards, but it was the number of birthday cards that was most important. “I had twelve birthday cards this year,” she would say proudly.

She was however a very emotional and sensitive person who was prone to think you had fallen out with her if you didn’t see or speak to her regularly. Being very withdrawn and having a problem using the phone, it took me something like ten years to figure out she thought I had fallen out with her, at which point I started to write her letters. She understood immediately, probably because she has also always been nervous about answering the phone. My Mama was the only person in our family with serious irrational phobias, being terrified of rats, which she called ‘long-tails’ as if the euphemism would ward them off. In later life she was terrified of anything that almost looked like a rat – including hamsters and squirrels. My Mama has always eaten a very bland diet. She likes her eggs and her white toast and her white fish and mussels. I once tried to feed her Mexican food, and I don’t think it went down well. When she died, she had both breast cancer and emphysema.

My maternal grandfather, Dada, is eccentric too, though not nearly to the same extent. He is very creative (apparently where I get my imagination for stories from), a big joker, and very good with children. He was always a big tease and a trouble maker when we were growing up. He loved winding us up with silly stories and tall tales, and also loved winding up the pet dogs by getting them to chase squirrels, cats, flies, or getting them to go crazy at nothing just with the slightest change in his expression. He is prone to depression and has been through one or two bad patches during his life. He was a crafty bugger and during the war enrolled in the army though he was underage. He spent most of his married life hiding the fact that he still smokes from my Mama, by sneaking out for cigarettes and then eating a Polo mint when he comes back in the house!

My Mum is quite an emotional person like my Mama. She has always had an inferiority complex because she left school when she was sixteen to be a nursery nurse, whilst my Dad went on to do a degree. My Dad is such a know-it-all he could make anyone feel stupid unintentionally (guess where I got that trait). My mum is actually quite clever and psychologically quite sensible and mature. The little talks she gave me when I was growing up have always stuck in my head and made me very sensible. However, in spite of being sensible, my mum has always struggled to keep a lid on her emotions. She spent a lot of time shouting, being argumentative and crying when we were younger and I felt she made some unreasonable demands on my Dad to always be home at the same time every day – not because she was paranoid or jealous, but because she always had to eat at the same time or she ended up with an upset stomach or feeling ill or an emotional mess (guess where I got that trait).

My Mum didn’t have an easy time with my sister and I as we spent a lot of time fighting. She was a very good, very dedicated Mum who spent a lot of time teaching us things and trying to feed us and bring us up properly, so I feel quite sorry for her and it makes me quite angry when people say ADHD is the parent’s fault. In those days they didn’t really diagnose children with attention deficit, defiance or developmental problems, though my sister was informally diagnosed ‘hyperactive’. My Mum had lots of health problems. Her periods stopped being regular when she was still young, and she was put on HRT. She blamed her emotional state on her hormones. On HRT she calmed down somewhat, but the difference wasn’t exactly life-changing. Now she is on the other side of the menopause, and she’s still an emotional person who cries and rants and argues. Though my mum and I have always had a lot of problems ‘connecting’, since she just doesn’t understand my aspie personality, it’s really quite funny how similar we are. It’s like that joke about how women always turn into their mothers. I really, really think my Mum has food chemical problems.

Our maternal uncle is a pretty regular, straight-forward, hard-working guy who is always tinkering around with cars. He can be a very humorous guy. He can be a bit up-and-down and does get stressed easily. Something he shares with his son, is that he will sometimes suddenly develop full body hives from strong chemicals in washing powder or deodorant. His wife is a lovely outgoing, loud, eccentric woman with a great sense of humour. She likes being spontaneous and is always doing impressions and putting on voices. Of our maternal cousins, their son is an ambitious, popular, creative chef who has been body-building since his early teens, and their daughter is a popular, creative, arty, drama graduate and teacher.

My paternal grandfather, Grandad, was a school teacher. He could be quite gruff and bellow at people, especially my Grandma, but he was good with children. He seemed to always have a low-grade depression. He had diabetes in later life and after several years of that had a heart attack. He spent most of his spare time in the garage inventing things, doing DIY and tinkering with cars. Apparently he once invented an electric paint stirrer and proudly showed it to my Dad. When he tested it the paint leapt out of the tin all over him and the side of the house, much to my Grandma’s amusement. He loved dogs – or at least, he loved to hate his springer spaniel.

My paternal grandmother was another funny fish. She was a school teacher, one daughter of four? five? of a Frenchman who was an African missionary, a fellow who was quite possibly an alcoholic and who died in the African jungle of an asthma attack. This was back in the days when asthma was pretty unusual. In the inter-war period my Grandma learned to drive and set off and drove her car all around Europe. Because she felt like it. This was a time when women did not drive, and did not own cars, and did not go off on their own around Europe. When she met my Grandad they did not get married but lived in sin until after the war, because in those days female school teachers had to give up their jobs when they got married. She had two sons, and the second was my Dad, whom she had when she was forty. She died when I was still a teenager, but from what I remember she was quite eccentric and had a number of talents. She was a good dressmaker, and she could play several musical instruments very well, including the violin, viola, and piano. She was very stubborn. When she got diagnosed with breast cancer she decided she wasn’t going to eat, and that was that. She lived out in the Peak District (I do take after her), where she kept bees, grew vegetables and fruit, made homemade damson jam from the wild tree in the garden, and collected far too much Denby stoneware. She too loved animals and owned some very badly behaved dogs. Both my paternal grandparents were collectors and owned far too much stuff. They ate a very good, traditional meat and potatoes diet but had weaknesses for homemade jam and honey (hence my Grandad’s diabetes in later life). Once when I was being very difficult as a child, I went to stay with them for a week and apparently I was an angel the whole time I was there. I wonder how much that had to do with diet, or with grandparent-blinkers? I’m told I look uncannily like my Grandma, both in my face and in my figure. My Grandma had Alzheimer’s when she died, and considering the state of my Dad’s memory, it doesn’t bode well.

My Dad is very clever and articulate, he has an IQ of over 150 and scores incredibly highly on 3D spacial tasks. He collects clutter and can’t throw anything away, he’s a know-it-all, and he knows some pretty obscure things. He always knows how machinery works. When I was about eleven or twelve he would teach me astrophysics or geology while he was preparing dinner. He does a lot of DIY and makes things, he takes cars apart and he once invented a toilet seat for disabled people that’s still being sold today. He currently works as a college lecturer in business though he has a history of unusual jobs (including adding food additives to processed food. Ha). He can be a bit embarrassing in company. He once told me he isn’t very confident socially, so he normally rehearses what he wants to say in his head before he says it – something that has also become my coping strategy. He’s very cynical about people’s motives and knows full well that money makes the world go around, often shouting at politicians on BBC radio 4. You have to be careful not to get him going about things, because he will go on and on and has a tendency to lecture, and really doesn’t notice if you’re bored! He seems to have spent a lot of his life with a low-grade depression. He absolutely loves dogs and humanises them far too much. We have owned a series of very naughty dogs as a consequence.

My paternal uncle is quite similar to my Dad. He failed his eleven plus exam, but went on to get a really good degree and worked in Cambridge on very brainy top secret engineering/technology and microchip design projects. My uncle is a bit up-and-down bipolar and in a lot of ways more extreme than my Dad. He gets crosser, he gets sadder, and he gets happier. Though his house is a lot less cluttered than my parent’s, he has an enormous cactus collection! I feel he’s more socially withdrawn in some ways than my Dad and he likes living on his own. He’s not very good at small talk, though he can go on for ages about intellectual things that interest him. Apparently he was a seriously moody teenager who was rarely seen outside of his bedroom. Both he and my Dad had bad asthma as children, in spite of their good diet. His son is a computer programmer who has dyslexia, and one of his daughters was a very, very moody teen who had life-threatening asthma that warranted steroid treatment.

My sister has always been characterised by my Mum as ‘opposite’ me. She’s a lot more sociable and very loud whilst I’m very quiet. She was hyperactive, whilst I was away with the fairies. But she’s actually a lot more like me than opposite. We talked about our similarities recently. We both have special talents – mine is writing, hers is music. We’re both very focussed, ambitious and single-minded people. We prefer to work intensely and in great detail on one single task. We don’t multitask very well at all and if we have to, we always get stressed and in a flap about having too many things to do. We usually both reach explosion point when we have more than six or seven things to do in a day’s work, in other words, when our short term memory fills up! We’ve both had problems at work where in spite of huge amounts of dilligent hard work, our efforts haven’t been appreciated and we’ve been passed over for special projects and promotions. Though I have always thought of my sister as the popular, pretty one, she is actually a geek at heart who always felt inadequate next to her more popular best friend, our maternal cousin – as I mentioned an outgoing, arty thespian of a girl who is creative but also has a high EQ. She often felt that people were friends with her just because she was our cousin’s friend, or that they hated her because she was our cousin’s friend. My sister sits on the geeks’ table at work, just as I always did. She socialises much better than me, but says that her coping strategy is just to be really loud, get drunk, and say stupid things, and people generally laugh at her and decide she’s alright, though often she makes enemies of other girls who call her cruel names behind her back. Like me, she suffered from asthma when she was little, and also had much worse eczema. Unlike me, her junk food snacks of choice were Coca-Cola and ready salted crisps, whereas mine was always breakfast cereal – usually Rice Krispies as wheat based cereals upset my digestion.

My whole nuclear family – Mum, Dad, sister and myself, all came down with fibromyalgia when I was about thirteen years old. Apparently Mum and Dad have ‘very similar tissue types’, whatever that means.

So what can I deduce from all of this? It seems as though both of my parents and all of my grandparents are a bit unusual, which isn’t surprising since methylation cycle polymorphisms are very, very common and a number appear heterozygously in as much as 30% of the population. Probably a lot of people have a couple of polymorphisms at least, and it seems to be the chance of getting several of them at once that makes one aspie, autie, or prone to developing fibromyalgia. It seems as though people with these traits tend to be attracted to each other, as the homozygosity rates for these genes are higher than chance compared to the heterozygosity rates. My whole family seems to have been unconsciously playing Russian roulette with genetics and I guess with me it finally blew up in their face!

There is definitely a dominant genetic line going down from my paternal grandmother to both her sons and most of their children that has caused us all to inherit asthma. Both of of my paternal grandparents were typical intelligent systemisers and collectors. This appears to have been passed to both of their sons. I am sure we have inherited something from the original asthmatic systemiser in the family – my Grandma’s French African missionary father.

Artistic creativity is a trait my paternal grandmother (music) and my maternal grandfather (stories) share. It’s been passed to my sister and I. Our maternal cousins seem to have inherited a creative flair without the introversion or obsessiveness that can sometimes go with it. I don’t know whether this came from our maternal grandfather or whether it’s something they’ve inherited from their mother – whose brother, incidentally, is introverted, lives alone, and doesn’t own a bank account, and whose mother was equally eccentric.

My maternal grandmother’s need for routine makes her a systemiser too, but in a different way to my paternal grandparents. Perhaps systemising in more of an autie way than an aspie way. She passed the need for routine and her emotionality on to our Mum. I wonder whether my maternal uncle’s interest in stripping down cars is a higher-functioning aspect of the same thing, and whether his hives are something he has inherited from her, as I can’t help but feel she ate so blandly for a good reason.

I can’t wait for our house sale to go through. When it does I’ll finally be able to afford this genetic test, which will shed a lot of light on the situation. I’m expecting to hit the jackpot with it and I think I’ll have at least three polymorphisms in the wrong places. I suspect I’ll have something like MAO and/or COMT on my Mum’s side, and something like MTHFR and/or COMT on my Dad’s side, also a CBS and/or SUOX polymorphism from one or both. I’m expecting to be homozygotic in at least one important polymorphism.

Unfortunately all but one of my grandparents are dead so I can’t trace it back that far, but I’d like to be able to afford to get the test for my sister and parents. THEN, with hard, physical laboratory-style proof, maybe the family will start listening!

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Written by alienrobotgirl

24 August, 2007 at 2:37 pm

Posted in Asperger's Syndrome

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