Uncategorized

It’s all in the DNA……..

I have always had a fascination with genetics and it was this that made me choose to study molecular and cellular biology at university. At this time (the early 1990s) The Human Genome Project started which was the first attempt to sequence an entire human genome. The technology at the time was limited and the project took 13 years to complete. Fast forward to today and it is now possible for anyone to spit in a tube and get their genome sequenced in a mere 6 weeks. My youngest daughter Katherine had her genome sequenced last year and the results we sufficiently interesting enough for me to want to do the same.

The information that you can get from genome sequencing comes in three sections:

  • Ancestry Composition

  • Carrier Status

  • Health Traits

My ancestry composition can be seen in the diagram below:

ancestry

The first surprise was that I was only 51% British. Through my genealogy research I’ve known for a while that many of my ancestors came from France but my DNA shows that I also have ancestors from Germany. In particular 10.5% of my DNA comes from the Ashkenazi Jewish population that settled along the river Rhine in the Middle Ages. It is thought that this population consisted of around a mere 330 individuals. In scientific terms this is called a genetic bottleneck. I will never be able to prove it but I suspect that this ancestor was through my maternal grandfather’s mother (my great grandmother). When looking at photos of Ashkenazi Jews there are some striking similarities in appearance to her. I am so proud to be 10.5% jewish as I have had done a lot of research into jewish culture over the years.

Katherine’s results showed that she was a carrier of the extremely rare genetic disease Zellweger Syndrome Spectrum. My results confirmed that she inherited this allele from me. Zellweger Syndrome Spectrum, as the name suggests covers disease with varying severity. The gene itself (the PEX gene) codes for a protein that is part of the structure of the intracellular organelle called the peroxisome. The peroxisome is involved in the cutting of long chain carbon molecules (e.g. fatty acids) which are then used by the mitochondria to create energy for the cell. The more severe cases of Zellweger Syndrome are invariably fatal within the first year of life. There hasn’t been anyone in my immediate family that has had a child with Zellweger Syndrome. Thankfully it is extremely rare. For comparison, the prevalence of cystic fibrosis is 1 in 2500 births; Zellweger Syndrome is 1 in 50,000 births.

Katherine was also found to have two copies of a gene for a condition called haemochromatosis which is an iron overload in the blood. Obviously one of these genes came from me. Fortunately the particular gene variant we have does not put us at an increased risk of developing the disease. This result was a bit ironic as David’s grandfather actually had haemochromatosis and he has been having blood tests every five years to check for iron overload and we now know that he is not at an increased risk of developing this condition.

The only results that were particular to me was a slightly increased risk of developing late onset macular degeneration and Alzheimer’s disease. I also have a 20% chance of developing type 2 diabetes. My recent diet changes will probably be enough to mitigate this risk. I was also relieved to find that I do not have a genetic predisposition for bowel cancer. I have had relatives on both sides of my family die from this cancer.

All in all I am really heartened by the findings in my genome. I was also able to download the raw data (genomic sequence) in file which I can use in third party programs. The company I used will also update me as more genes are identified so this is an ongoing quest.

Depression

Brain Malfunction………

Since Christmas my brain has been working against me. I always struggle with my depression in January and this year has been no exception. Just after Christmas I wrote a list of all the things I’d wanted to achieve in 2020. Due to being so unwell in 2019 I felt like it was a year wasted. We are now in the second week of February and I have yet to even start anything on the list.

I’ve mentioned Behavioural Activation in a previous post as a way to stop my procrastination but as of yet I haven’t even begun to look at it. I know I need to make a start and it is getting to the point where I’m just going to have to force myself to do it.

I think I am slowly coming out of it though as I’m finally going to go swimming this afternoon. I really need to increase my activity as I’m struggling to lose the last bit of weight. I am so close to being a healthy weight -only 3lbs away- and it’s become more important to me as I’ve had my genome sequenced (I’ll write another post on this later) and it shows that I’m at an increased risk of developing type 2 diabetes. For me, losing weight was always about my health so this has lit a fire under my butt!

I’m also starting to look forward to the rest of the year. David and I will be celebrating our silver wedding anniversary in September and are planning a trip to the US. We’ve always wanted to go to Universal Studios in Orlando, Florida and I really want to visit the Atheist Community of Austin in Texas so we will be doing both.

I think it is obvious to anyone reading this post that it was written over a period of a few days. The first two paragraphs were written two days ago when I was feeling very low and the remainder was written today. I find writing this blog extremely cathartic and I think this post has moved my brain into action.

Mathematics

Revisiting Old Friends……..

I desperately need to get some structure to my day. I’ve been spending far too much time watching videos on YouTube and my brain is stagnating. My hobbies do not tax my brain enough so I have decided to prepare myself for doing an Open University degree in mathematics.

I did a number of university level courses in maths on Coursera.org about 8 years ago which I really enjoyed but feel that I need a thorough revision of the fundamentals to ensure that I have all the bases covered.

I had a quick look at the current A-level text books and found that they didn’t appear to be at the same level that I remember from sixth form. I remembered the books I had at school being far superior but I couldn’t remember the authors. I knew the pure mathematics book was blue and the applied mathematics book was orange. I did a search on amazon and initially came up with nothing. I then saw a book that looked similar and immediately recognised the names of the authors; L. Bostock and S. Chandler. The text books by these authors for A-Level Maths and Further Maths were still in print but pricey at over £40 each but I managed to buy a second hand set at a total of £40 for all four.

I am now eagerly awaiting delivery and welcoming back some old friends. Hopefully this will fill the void in my life at the moment.

Depression, Fibromyalgia

Behavioural Activation……..

I suppose most people procrastinate at sometime in their lives especially when needing to fulfil onerous tasks. At school I was always leaving my homework to the last minute unless it was a subject I enjoyed

Since becoming ill with depression and fibromyalgia my procrastination has reached epic levels. Being so tall I have difficulty buying coats with long enough sleeves so I thought I’d have a go at making myself a full length winter coat. I chose a pattern and ordered the required materials back in March. It is now October and I still haven’t made a start. I keep making plans to start on a certain day and end up dithering and making excuses. It is the same with my reborning (making hand painted realistic dolls); I started my current doll back in August and haven’t worked on it since my surgery.

I sometimes think I’m like this because of my perfectionism i.e. while I’m not doing the activity I’m not making any mistakes. I always feel better about myself when I’m being productive and I wish I could motivate myself more.

Behavioural activation is a branch cognitive behavioural therapy (CBT) that aims to help people engage more often in enjoyable activities and develop or enhance problem-solving skills. One of the symptoms of depression and chronic pain is a loss of interest in activities that were previously enjoyed. These activities are seen as not being worth the effort and this creates the vicious cycle seen below:

DvckCJVXgAAuWbd

Behavioural activation involves looking at any obstacles to participation in activities and making strategies to overcome them. This may involve breaking the activity down into smaller, more manageable steps. It is often helpful to keep a record of thoughts and feelings while doing activities. This can be used to identify what worked and what didn’t with the goal of finding a positive solution to problems encountered. The ultimate aim of behavioural activation is to shift the person from the cycle shown on the left of the diagram to the cycle on the right thus releasing them from the inaction that made their depression worse.

There is a course on behavioural activation that I can attend locally so I think I’ll go and enrol now.

Depression

Social Media Fatigue……..

Having been unable to work for over 10 years due to the fibromyalgia and chronic fatigue I have spent a lot of time on the internet and social media. At my worst times it has been the only way I’ve been able to interact with the outside world.

I have an extremely active mind with a strong focus on logic and reason. In the past I have enjoyed discussing topics with people on social media however over the past few months I have become increasingly annoyed with anything that is based on religion, pseudoscience and conspiracy theories. I have always tried to respect other peoples beliefs in such things but I increasingly want to call people out on – what I see as – their stupidity. I’ve literally typed out multiple angry responses and then deleted them; all but one. Unfortunately this was mistakenly taken as an accusation towards someones friend rather than a general comment on the subject in question. Obviously I immediately apologised and explained that it was not meant as it appeared but it has left me with a lot of anxiety.

The only way I feel able to cope with the anger and anxiety is to take a prolonged break from social media; Facebook in particular. I may even decide to deactivate my account at a later date. It will be hard losing contact with friends that I rarely see but I don’t see another option right now.

Uncategorized

Finally some answers and getting my brain back on track……..

Anyone reading this blog over the past 8 months will understand when I say that this year has been tough. I have had multiple vomiting attacks with increasing intensity. Although I was finally diagnosed with gallstones my consultant said that my symptoms were very atypical and warned that removing my gallbladder may not resolve all of them.

On August 7th I had gallbladder removal surgery (cholecystectomy). During the operation my surgeon discovered that my colon had wrapped itself around the tubing of my gastric band creating a very acute angle in the top right hand corner. This was the cause of the distortion that was seen in the CT scan earlier this year that was originally thought to be caused by constipation. The tubing has now been cut and everything released. I am feeling so much better now. I didn’t realise quite how unwell I had been feeling until everything was sorted out. The stomach cramps and loud bowel sounds have all stopped and so far I haven’t been sick.

Now I have to get myself back to normal. Since my scary attack in June I have not been sticking to the Slimming World plan at all. All I’ve wanted to eat are sandwiches, mini cheddars and smarties. I have gained a few pounds but not enough to make much of a difference to the way I look; a benefit of being tall I suppose. Having a few of my old favourites has been nice but I have found it very difficult to give them up again. My brain keeps coming up with excuses as to why I should put off returning to healthy eating for yet another day. I finally succeeded in having a day fully on plan today so this should spur me on to continue.

I also need to build up my activity again. I’m still only 12 days post surgery so I need to be a bit careful. My abdominal muscles are still sore and I’m finding that I need to support my middle with my arm when I’m walking for anything longer than a few seconds. I just need to grit my teeth and get on with it. I’m planning on starting swimming again in 3 weeks and I’m hoping it will help to tone up some of my sagging skin.

For the first time this year I am confident that things are going to get better!

Depression

My inner voice……..

It has always been a question in philosophy how one can prove to another conscious being of their own consciousness. I know for certain that I am conscious and that I exist. I also accept that my consciousness is merely an emergent property of my brain and that when my brain dies my consciousness will cease to exist. I converse with myself in my native tongue of English and I can remember doing this from about the age of 2.

When I started school I remember questioning why I wasn’t like everybody else, why I couldn’t say anything right or act ‘normal’. As I got older and developed depression this turned into a constant diatribe of internal belittling. I hated myself for being overweight, lying for attention and being what I thought of as a freak. The only way I could comfort myself was by getting good grades and eating junk. The latter was obviously counterproductive.

This inner voice continued well into adulthood. Having a husband that loved me unconditionally and two beautiful daughters didn’t seem to make a difference. Although very grateful, I felt that I was undeserving of it all. This led to some unreasonable behaviour on my part especially when David wanted to do something on his own. It was only when this behaviour was pointed out to me a couple of years ago that I realised how destructive it was.

Once I’d made the decision to change and worked on thinking and acting differently my self hating inner voice stopped. It took a few months but I actually -for the first time in my life- started to like myself. The change was so startling that my youngest daughter asked if I’d started taking a new medication. I no longer feel inferior to other people despite my difficulties. It is these difficulties that make me who I am and I wouldn’t change anything because I’m doing ok.

Weight

It’s official, losing weight can be hazardous for your health……..

It’s been a while since my last post due to a number of -what I have been calling all year- vomiting attacks. In March I thought they were caused by my pain medication which is why I came off them. Two weeks ago I had the worst attack of the year which lasted 5 days and scared the shit out of me.

I cannot fault the NHS. The locum doctor recommended that I contact the consultant that did my gastric banding surgery. The consultant saw me within 3 days and immediately suspected that I had gallstones. Within 2 days I had an ultrasound scan and confirmation that he was right. He thinks that they have been caused by my “profound” weight loss. I knew this could happen as they remove the gallbladder when they do gastric bypass operations for this reason.

I am so relieved to finally have a diagnosis. The attacks happen when a stone enters the bile ducts trying to get to the intestines. Before I came off my painkillers I didn’t feel a lot of pain during the attacks but I did during the most recent one. This really helped with the diagnosis so I don’t regret coming off my painkillers one bit.

I did mention to my GP back in March that I had discomfort under my ribs on the right hand side but because my CT scan didn’t show anything he dismissed it as IBS. However gallstones only show up on a CT scan if they are calcified. I’m surprised he dismissed it so readily. To be fair though I hadn’t specifically sought help for the attacks. Had I mentioned the two together he would have had the full picture.

So what’s next? I need to have my gallbladder removed asap. Fortunately David has medical insurance through his work so I can get it done privately so it should be in the next few weeks. I’m hoping to have the gastric band removed at the same time. I need to put my health first now. I am not worried about gaining weight afterwards as the band has been deflated for years and not providing any restriction. It does make me eat slower though so I will need to watch this. I will continue to attend Slimming World every week even after I reach my target weight (7.5lbs to go!) and I’m hoping this will be enough to keep me on track.

Autism

Autism and special interests……..

One of the aspects of autism that has characterised my life more than any other is that of special interests. To the neurotypical person these can often be seen as obsessions. As a young teenager these were often associated around people e.g. my history teacher, George Michael and Chris de Burgh. As an adult they have been more focussed around hobbies although a couple of people have crept in.

When in a special interest I find it difficult to think or talk about anything else. This may seem like a bad thing but I have achieved so much because of this. In the space of a couple of years I reached Grade 4 standard on the piano and only stopped because my teacher retired. I taught myself the art of reborning (making realistic baby dolls) and now I am able to sell my creations. My weight loss journey initially began as special interest but has now become a more normal part of my life.

My husband David is the same and we have learned together that we need to make time for our separate interests as they are an integral part of who we are. We have designated our Saturdays as hobby days; David will go off and do his machining and I will either do some reborning or watch documentaries on my current subject of interest which World War II at the moment.

The feelings attached to having a special interest can be really intense and can bring a lot of happiness. I often feel sorry that neurotypical people don’t get to have the same experience. If there is an upside to being on the spectrum then special interests is it.

Mathematics

The Joy of Mathematics……..

I want to try and move on from posting about my health for a while and return to topics that are a bit more cheerful.

I have always been fascinated by numbers and patterns. I can pick out a pattern very quickly and can get very OCD if a perceived pattern is disturbed. I loved mathematics at school and always excelled at the subject. Initially I studied both mathematics and further mathematics at A level but was forced to drop the latter due to the impact of my depression. I think if I’d continued it would have been a tough decision between mathematics and biology as to what to study at university.

Since leaving school I have done several online university level courses in mathematics just for fun. I have been rather neglectful of late but fully intend to get back to it. If I win the lottery I may even do an Open University degree in the subject.

I used to have an obsession with the number 3 after discovering that if the sum of the digits in a number are a multiple of 3 then the whole number is divisible by 3. I used to use a digital clock and the time as starting points to perform calculations involving the number 3 and I would challenge myself to do them before the clock changed. I also used to calculate powers of 3 in my head to ridiculous numbers. Thankfully I managed to stop these activities as they used to prevent me from sleeping.

I also had a fascination with the number pi after finding that the formula for pi was as follows:

Screenshot 2019-04-15 at 14.38.17

I decided to calculate this infinite series by hand to see if I could establish pi myself to set number of decimal points (I can’t remember how many). I spent an entire morning with a calculator and pad of paper. In the end I wrote a computer program to see just how many calculations I would have to do to achieve my aim. I worked out that if I did one calculation every 10 seconds it would have have taken me 212 years. Needless to say I gave up.

I think the reason I love numbers is that they are objective; there is a definite right and wrong and they’re the same everywhere regardless of where you are in the universe. In a world where I often struggle to make sense of things, mathematics is a constant friend.