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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.

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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!

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The final step……..

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…

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Bringing it all together……..

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.

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Why I am doing this……..

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.