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For as long as I can remember I have always sought achievement over everything else. In my early years at school I judged myself by comparing which colour books of the reading scheme I was on compared to my peers. When I was a Brownie I constantly planned on which badges I was going to work on next. I set myself impossible goals and then berated myself when I couldn’t achieve them. Setting these goals would often lead me to procrastinate in starting new tasks for fear of failure.

Academically I have been very successful. I have a 2:1 Bachelor of Science honours degree in Molecular and Cellular Biology and a Master of Science degree with distinction in Computer Science. This should be enough to prove to myself that I’m what – worthwhile? I honestly don’t know what it is. What I do know is that I’ve been trying to prove ‘whatever it is’ to myself my whole life and it has become detrimental to my wellbeing and it has to stop.

In July 2020 I set myself the goal of taking my ABRSM Grade 5 piano exam. I worked really hard, did all the preparation and really enjoyed the challenge. However it took over my life and I haven’t thought of anything else for six months. I took the exam yesterday and the stress caused me to have a memory block in the middle of one of my pieces. Fortunately the examiner was very kind and encouraging and I managed to complete the piece. The rest of the exam went reasonably ok and I’m fairly sure I’ve passed. For a couple of hours after the exam I was beating myself up as my goal was to get a distinction. Once I’d calmed down and really started to think about it, one thought kept coming back to me over and over again, “What the f@*k am I doing to myself?”. 

I’m sure that striving for achievement was one of the factors that led to me developing fibromyalgia and chronic fatigue syndrome. Over the last few years I have made great strides in regaining some function and if I don’t stop putting myself in these stressful situations I could jeopardise this. 

In short, I’m done with trying to prove whatever it is to myself. No more practical music exams, no more impossible goals, no more strict deadlines and most of all no more self-imposed stress. It’s time for me to enjoy what I have achieved in my life and be content with that. I’m going to learn piano pieces that I love rather than what’s on a syllabus. I have a very happy marriage and two gorgeous, well-adjusted grown-up children of whom I’m extremely proud. It will take some time to adjust my thinking but once done my life will be all the richer for it!

Edit: Exam passed!

I haven’t posted in while as I was dealing with my usual post Christmas depression. This lasted all of January and most of February. I have now flipped the other way and I’m feeling really motivated and happy so it’s difficult to write about anything relevant to the theme of this blog.

The Associated Board of Royal School of Music deferred all of their practical exams until the summer so I was unable to take my piano exam this term. It was a real blow and threw me for a while. My pieces were ready for performing and I had to put them to one side to avoid them getting stale. I’ve been working on a few more challenging pieces and have discovered that I absolutely love Frederic Chopin’s piano works, especially the nocturnes. I tend to prefer pieces in minor keys as I’m a miserable so and so and I cannot learn a piece of music unless I can feel it. My practice is limited by my fibromyalgia. I can only practise for 45 mins to an hour before my back starts burning and I try to do two sessions a day.

I’m still not quite there with my weight loss. When the UK locked down in early January, Slimming World had to switch to virtual meetings over zoom. While it’s great to still be in contact with everyone it just isn’t the same. I had a couple of slips and regained a little. I have lost all but a couple of pounds of it. The good news is that the face to face groups restart in mid April so hopefully I can finally shift the last ten pounds.

I hope I can continue feeling this happy. As long as I keep up my healthy eating and piano practice I should be alright. I know from past experience that I am an all or nothing kind of person. If one area of life slips then it all slips. I wish I could work out why. I’ve done a lot of introspection over the years and have overcome a lot of my hangups but this one remains and I don’t how to move forward. I guess my brain is still faulty.

I have tried to write a post about the pandemic many times over the past few of months but every time it has turned into an almighty rant. I have been absolutely dismayed by the world’s response as a whole. From mismanagement by government leaders to members of the public declaring the whole thing a hoax. It is absolutely staggering to me that people are talking of their civil liberties being taken from them and refusing to wear a something simple as a damn mask in public places. Some countries like New Zealand and Vietnam have managed to get the virus under control but countries like the US and the UK (my country) are currently showing record numbers of daily cases and are waiting too long to take appropriate action. I appreciate the effects that lockdowns have on the economy especially in the short term but if the UK had controlled the virus early on, our economy would have had the chance to recover now. The UK government has wasted £10bn on a private track and trace system which has been shown to be useless when they could have used the infrastructure of the NHS already in place. This wasted money could have been used to support people and businesses through an extended lockdown and we wouldn’t be in this mess. The delays in controlling the number of infections has created the opportunity for the virus to mutate into a more infectious form making it even more difficult to control. Ok rant over!

On to more pleasant things. I started to have piano lessons again in July and have progressed well. It turns out that consistent practice really does pay off. I am going to take my ABRSM Grade 5 exam at Easter (pandemic allowing). I managed to sell almost all of my reborning kits which gave me enough money to invest in a lovely Yamaha U1 piano which is my pride and joy. I still find sitting at the piano uncomfortable but I’ve learned to pace myself and split my practice up. My main weakness is sight-reading; I hate it with a passion. I can’t bear to hear mistakes in music and no one sight-reads perfectly. I’ve got 3 months to improve the situation.

I’ve always doubted my ability to progress beyond Grade 4 but if the past few months have shown me anything it’s that I can do anything I want to as long as I set my mind to it. I’ve always loved Chopin’s posthumous nocturne in C# minor but never thought I’d be able to play it. I still can’t play it as it should be played but I can fudge my way through the first third of it; even managing to play triplets over quavers (for those of you musically minded). This has shown me that with perseverance many more pieces are open to me. I didn’t realise just how much I missed my music until I got it back.

Plato is quoted as saying that necessity is the mother of invention. The current world pandemic has forced medical scientists into a desperate search for a vaccine against the coronavirus, SARS-CoV-2.

In the past vaccines have been one of 3 types:

1. Dead vaccine – the pathogen is rendered non-infectious but is still able to elicit an immune response thereby conferring immunity.

2. Attenuated vaccine – the pathogen is changed to make it unable to induce symptomatic disease but is still able in infect the host. The immune system mounts a response conferring immunity against the original pathogen as well as the altered pathogen.

3. Sub-unit vaccine – part of the pathogen (e.g. an external protein or ‘spike’) often with an adjuvant (a substance that stimulates the immune system) which elicits an immune response thereby conferring immunity.

Today I watched a documentary on the search for a vaccine for SARS-CoV-2 that is similar to type 3 but differs in one crucial aspect. Back in January Chinese scientists sequenced the genome of SARS-CoV-2 and scientists in the UK have identified the sequence that encodes the protein spike of the virus. They are now using bacteria to create multiple copies of the genetic code (RNA in this case) for this spike. It is hoped that when injected into muscle tissue the muscle cells will take up this genetic material and begin making copies of the virus spike; in effect creating their own subunit vaccine. The scientists are currently doing trials on macaque monkeys and if successful, human trials will follow. If this methodology works and a vaccine is developed it will fundamentally change vaccine research in the future especially against viruses. This technique may not have ever been considered if it was not for the current pandemic hence the quote from Plato.

As for me I’m coping quite well at the moment. It’s been nice having my husband and daughter for company the last few days due to the bank holiday. I have lined up a couple of craft projects to keep me occupied in the coming weeks.

EDIT: I need to add a correction. The team at Oxford are not solely using the RNA sequence for the spike protein as a vaccine. They are cloning it on to a cold virus which is then injected. The principle is the same with the hosts own cells making the spike protein to elicit the desired immune response to confer immunity to SARS-CoV-2.

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:

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.

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 7^th 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!

This is just a quick update. Today is day 15 free of opiate painkillers. All of the acute symptoms of withdrawal are now gone. I now only have a feeling of exhaustion and low mood. This part is more difficult to deal with as there is no definite timeline; it could last a few weeks to several months. It is very variable though and I have short periods where I feel a bit better.

I spoke to my doctor this morning and told him what I’d achieved and he was really pleased about my progress. I have been referred to a pain psychologist who will help me cope with my pain levels in a different way without medication. I also took my stash of meds to the pharmacy for disposal. I was never in any danger of relapsing but the act of disposal felt huge nonetheless.

So now I look to the future…

It has been difficult to talk about my diagnoses separately as they all interact to make who I am. Genetics has a lot to answer for. My father almost certainly had autism/Asperger’s syndrome although it was never diagnosed. I think that autism is something that is innate and is not the result of environmental influences. I have to mention here that there is no evidence whatsoever to link vaccinations to autism.

I have often wondered whether I would have developed depression if I hadn’t had autism and experienced all the associated difficulties. However both of my parents have been treated for depression as was my maternal grandmother. I think that I was almost certainly genetically predisposed to both depression and fibromyalgia and my life experience led to the development of both conditions.

I have had periods of being very bitter about how my life has panned out. I think that this was only natural but I soon decided that there is futility in self pity. I am so fortunate in many ways. I have a loving husband who loves me unconditionally and two beautiful daughters. Although I always have some degree of pain my condition is not life threatening. I just have to make the best of what I have.

It is only in the past year that I feel I have made any real progress. I have worked very hard at getting my anxiety under control and David is reaping the benefits of me being more independent. Although he hardly complained it was becoming obvious that my condition was a source of stress for him. We have both been a lot happier in recent months. As previously mentioned I have also lost a lot of weight and found a level of exercise that is maintainable. I just hope that I don’t slip back into old habits.

It suddenly dawned on me today that almost all of the struggles I have faced over the 45 years of living on this planet have purely been the result of my brain not working in a way that would be considered ‘normal’. I placed the word normal in quotes because I don’t really think that there is an objective sense of a normal brain. I just know that a lot of my issues would be solved if my brain worked the way that it seems to in other people. It has taken years for me to accept that it is okay to be different, but at the same time realising that I needed to change the behaviours that were self destructive and those that negatively affected the people around me.

Over the years I have officially been diagnosed with the following conditions:

• Depression and Anxiety
• Fibromyalgia
• Autism Spectrum Condition (specifically Asperger’s Syndrome)

There is some debate about the nature of fibromyalgia. Currently there is no known physiological cause for fibromyalgia; all known medical tests show that there are no abnormalities in the body. A study published in 2014 (https://www.medicalnewstoday.com/articles/283346.php) suggests that ‘fibromyalgia is linked to abnormal activity in parts of the brain that process pain signals and link them to other regions’. As this is the current thinking for fibromyalgia I will include it in my discussions.

Initially on this blog I will talk about my history and experiences with each of these conditions separately and then go on to talk about my daily challenges. I hope I don’t appear to be self indulgent in my posts. At the moment the purpose of this blog is for me to document my experiences and maybe learn something from it.