I've been diagnosed with Ankylosing Spondylitis

This blog post is disguised as a positive one I promise. It might not seem it initially. 


This week I was shocked to receive a letter from the hospital following an MRI I had a few weeks ago. 

Reluctant to lay in the machine, I felt so nervous. 
I’m not sure what I thought might happen but the heart was pounding anyway. 
Thankfully the amazing hospital workers had no hesitation in letting me use a machine which they told me was a bigger one. 
Still looked small to me. 
Yet I appreciated how sweet they were considering it was the end of the day. Without their kindness I expect they could have left earlier for home. 
Previously, an MRI (they were looking for spina bifida occulta) showed 3 degenerative discs. One facet joint had some osteoarthritis but let’s face it, I’m not 21 anymore. So part of me almost didn’t go for the test. 
The results informed me I have Ankylosing Spondylitis. 
There are square vertebral bodies with lesions, sacroilitis on both hips both sides of the joint and it generally sounds like a lot of inflammation is going on. 
Stunned. 
I’d read around AS before but was thankful I didn’t have it. Now I do. 
This is life changing. 
A chance of spinal fusion is frightening. This means the spine ends up one big long bone rather than lots of little bones. 
The treatment is naproxen which will flare up the crohns so we can’t go down that route. There is biological treatment available but I know nothing about that yet. 
Already, I’ve made positive steps in my research and hope things can continue to give me hope. 


I’m feeling like I really want to crack on with living life just now. 
Travel. 
See the world. 
Sort my house out. 
Get some building work done. 
Apparently, daily exercise is a must. Eating a low starch diet is also proven to help. If you want to read around the science bit, I’ll link it here. I am excited to read that one of the bacteria in the gut (which loves to feed on starch) is linked to CD and AS. So, this makes total sense as when I followed the specific carbohydrate diet my gut flora changed, as did the back pain. 
At the age of 13 the back pain started. No one seemed to think this was unusual and I’ve lived with a bad back ever since. Around the same time (tmi warning) I began I lose blood from my intestines and the GP decided this was likely heamorriods without an examination and for years I lived on medication for that until my crohns diagnosis 25 years later!
It’s bad. But. I can’t turn back time. So what can I do? I can exercise daily and eat right. 

I can live life. 


Since it’s sinking in that I’ve been diagnosed with #ankylosingspondylitis (another autoimmune disease) and researching diet. 
Apparently a low starch diet is heavily evidenced to help against the progression of AS. I clearly remember going keto to help with crohns. My back had never been so good. 
Then I felt better. 
Things slipped. 
🍫🍰🍦🍭🍬🎂🍩🍷
No option but to put the body first now. 
Stress be gone. 
Exercise and stretching each day. 
Low starch diet here we come. 
🌰🍤🍗🍖🍆🍅🍒🍑🍍🧀. 
Aiming to prevent spinal fusion. 

The next day diary entry:

Today sees my doctors visit from my painful knuckles. They sent me to hospital for an x-ray and blood to check for rheumatoid arthritis which is an autoimmune, inflammatory condition – sounds like all the other issues I have.
Still feeling pretty devastated but determined to get a grip of this through low starch diet and daily exercise.


I’m giving up the struggle of life now and I’ll make it let me know what it wants. 

Almost like using it as an excuse but rather it feels like living the life I'm meant to be living – putting health and happiness first – which is incredible. Let’s see what happens now moving forward. Have a big long list of things that I would really really like to do such as update my pod casts. I also quite keen to get things moving on you tube .
I’m going to have to call in the troops and get some people to help with my sales online. Really and truly I want to do some travelling and documenting all as I go. Hoping to show others that through the power of research and positivity you can live a good life despite all of the things that life throws at you. Having an ankylosing spondylitis is a big blow to me and I feel quite devastated. I feel like I need the energy to start to sort my house out and my life out. But I think I can do it. I do feel quite positive.

I’m not quite sure yet how I might make my routine work. But I will need to get to the gym today. And also do some work on my computer. How and why I’m not sure which way round it might work. Unless I combine the gym with going afterwards I’m working on my computer. Could be a possibility.

I'm aiming to keep calm and just go with the flow of life. But this one is tricky.

I'm a registered nutritionist!!!

Finally after tears and toil, I can say I'm a registered nutritionist!

This is massive.  I wasn't sure about applying for registration as it now means I'm tightly controlled as to what I can and can't say and firmly am open to the idea that there is no 'one size fits all' when discussing nutrition.
OF course, the human body is made up in similar ways but we all have so many differences.  For me, I am very aware of my body, how I'm feeling, my symptoms etc and there are times I'm still not sure what I should be eating and drinking....

Yet this was a risk I would have to take as I'm very keen to stand up and be regarded as an expert in the field while I blog about health and food.

So here it is.  The logo i am permitted to use:

Wonderful! Just as I decided to start taking life a little slower and try to repair the adrenal fatigue I have likely caused through my 20s due to way too much work, bad food choices, regular Pepsi and all.  Sugar is high in the mornings, I'm working on that.

My joints have started to ache, I'm working on that.

I'm building up a lot of calcium in my body, Working on that too....the list goes on.

My leaky gut and all. Yet I know if I am totally strict on myself I can help these issues which is where the love of nutrition started. I would love to help others on my path.

I really hope you have found some use in some of these blog posts as I have shared my work and I also hope you have enjoyed a little entertainment through the ups and downs of being a student.

Happy to continue my studies, I plan to get writing as soon as I can with all the things I love to do both online and offline.  Let me know where you are at and what you are doing with your plans from here on in.

With love from 

Louise Usher ANutr

Post-exam feeling.

Waking up post exams is a nice feeling!
Did I do enough? Lots of big words were involved so I’m hoping so.

At the end of the day my aim was to not quit. I’ve not quit.
A 1st class honours or 2:1 would be a bonus. But I’ve not quit.
The thing about this groovy degree is there are always paramedics around and I video chatted with one last night checking mums legs. They were freezing cold and quite white. Capillary refill is my latest skill I’ve learnt :)
Mum isn’t great but ok. We are seeing the optician today which will be useful. My paramedic friend did say sometimes there are things they just can’t treat and it’s a case of care and comfort (I said that bit in my own words).
So, quick cheeky ten min coffee and I’m hairdressing…

Last exam is tomorrow!

So, yes the last exam is tomorrow.
I don't know how I feel and it's super strange to be honest.  
Yesterday I spent a fraction of time (amongst my revision) gathering together photographs of my time at university and adding them to my newest Facebook photo album entitled "University life".
Flicking through -and there are many more to be added- I realised there have also been many wonderful memories.  Yet these are mostly to do with the small handful of amazing people I have met along the way and the fun times to be had at the posh events we have been to!

Autumn in our campus.

Me Stealing Annas glasses in year one!

The Greenwich campus is simply stunning.

Summer ball in year one 

Leavers dinner in year 4

Some people I am glad to never see again. In fact I would go so far as to avoid them at all costs as their nastiness has caused me actual massive emotional turmoil. More than that; anxiety.  One in particular stands out in my memory and to gather the positive aspect from this, she highlighted that I do have actual anxiety and have had for some years.  Yet the most massive panic attack outside St Pancras train station highlighted me to this.  Feeling as though I was going to die, I phoned my husband at the time and said goodbye. 
"Where are you?" He asked and I explained. He cleverly yet unknowingly got me to describe the places I could see,
"There is a McDonalds on the corner and the station is behind me..." He told me to sit down and take some breaths. I didn't have time for that, I had to get to  a chemistry exam.
Two weeks off followed and a host of medication.  Thankfully, I finally stopped these meds recently
Knowing now how we all need to give respect to our mental health, I am able to recognise that this is likely something I carried with me since my bullied days of school.  That's a whole other story and likely a whole other book! Knowledge is power they say. I agree with 'them'.  Now I can spot times of danger with my mental health.  Now I am able to shape my life to fuel my soul and to love my whole self in respect of who I am and what I need to generate happiness and joy within my life.  
Which, after all, is the entire point of being.  

What is life if not joyful?

The actual politics accompanying the academic world have not impressed me. It's simply not what i am about. I'm about heart and love and being kind to each other.  It seems the majority of academics are at university to carry out their research. An important job of course.  Yet I would imagine the difference between being a teacher and being a researcher is a whole host of other skills.  A handful of our academics really seem to care at my university and I adore them for that!

The Exam

So I have a seen exam tomorrow starting at 9:30am.  We know there are 5 questions and we know we answer 3 of them.  I have decided on my questions to be answered and done a little research into what I will write.  Today I am going to write them blog post fashion and publish them over on my nutrition blog. Re-reading them I will hope to remember some of what I have written and let's hope it's right! I've taken the brave a bold step to answer a question from the most harsh marker in the department.  Yet I love the question, the subject and the topic! See the next few blog posts to see what they are and how I have answered them. Of course if you are simply interested in my journal here and not much interested in nutrition then please skip past...

One last thing.  Obviously this work needs to be done in Starbucks!

Wish me luck!

The Snow

12 inches of snow fell overnight.

I was leaving the London campus after choir and the songs echoed in my head as I made a new friend who is one cracking solo soprano and i was taking her home due to the weather. It was forecast but we left London with zero snow, drove into it about 20 minutes from home and it got thicker and thicker.  The following morning, a foot of snow...

Stuck.  How was I going to get my essay written?  I wasn't sure.
My son decided to walk to his girlfriends house which meant I could use his desk to sit and write my essay on Iron and Colorectal Cancer.   3 days and nights i sat there. This was a tough essay and the flow simply wasn't there.  I didn't change clothes, or shower. I just worked until it was done with some sleep in between.

Finally I submitted it and realised I might be able to concentrate on learning Mozart for the choir concert.  Until a 'chasing' email popped into my inbox as my dissertation supervisor was 'worried about me'

I would get it done, this I knew.  But right at the ping of the inbox, I wanted to cry.

Journal - feeling so magical

Thank goodness you guys are way off in the future.  This means I have somewhere I can write about stuff that oh my goodness is blowing my mind.

More of a journal type post here, I'm about to talk about my uni work and some other magical things. You see, I'm pretty much a changed woman.  I hope this feeling stays this way. I love it.  I love life. I love myself.

Being single for some time now has been such a wonderful experience and the timing has been more than fabulous.  I love it.  Thinking I could get my head down and work a little harder on my uni projects, it's just not happening.
Blogging, yes, setting up the new society, yes.  Uni work is elusive just now. So I sit at 5am, unable to sleep more than 4 hours once again (ketosis does this to me and I'm currently intermittent fasting) thinking 'i should write that iron and colorectal cancer essay' and there is just no flow.

5 weeks and we are pretty much done.  5 weeks.  This is crazy.  Why can't I focus?  I must focus.

I tell you why.  Other than not really feeling overly motivated at uni (although they think my work might be publishable which is amazing) I'm just feeling so different in myself. It's almost like uni has served its purpose now.  My mental health is in a new place, I'm losing weight rapidly, loving how I'm feeling and generally I'm feeling just a bit more sassy.

Recently, some welcome attention has come my way from a superbly handsome man.  Clever, funny, stunning.  A renewed hope of a life next to someone wonderful after being quite sure I had done all my loving.  Obviously I can say nothing elsewhere on my work but here, you are 3 years ahead. What's not to say it worked out and as you are reading this he and I are beginning our happy ever after?  The thought alone has me feeling totally magical.  All around me I can feel the divine workings of something bigger than my human self.  Blessed...

From Phd fantasy to wanting to quit!

Sounding like a total nutcase, feeling like one too, I'm going to share my thoughts and feelings on the past few days.

Spending a good couple of days really researching deeply the courses I might want to undertake next year onwards, I felt excited.  The course material sounded interesting but then I realised the excitement comes from actually doing those bits of research and filling forms as opposed to the actual work.  Procrastinating on my deadlines which were looming for the uni work I need to do here and now, I stumbled over my own thoughts.

Knowing that there will be one day soon when Mum has had her time on this earth, the twins are flying the nest and my life seems more empty, I felt excited to be pursuing a career path once again.
It didn't occur to me that I might well get that same feeling from doing the thing which is my dream.

So off i have trotted into the world of application forms and personal statements.
Imperial College London, one of the top universities in the world. Clinical Research Phd for me, Diabetes and Obesity.  Ideal
Kings College London, Dietetics PgDip.
London Met, Dietetics Msc
Plus I have been already enrolled on a course at my own uni.  A masters which is worth a few grand to me too.

This morning I left with a spring in my step. Feeling smart these days, loving my work.

Meeting Jasmine for lunch, more springing, despite the bad back.

Walking around uni to the tune of 'hi louise' and smiles and nods (my ambassador role introduces me to many people I otherwise wouldn't have met) I was feeling fantastic.

The afternoon lecture was about obesity.  Great. I love this subject.
"Hey friends." I smiled at the Six Packs.
Have I told you about the six packs?  There are six of us and we are tight.  Close, helpful, loving and tight.  A great group.

Understanding the subject, asking sensible questions, answering many questions, our lecturer made me frown inside as she kept referring to 'people of colour' which I was unsure was racist or not.
Then, forgetting he was one of our fellow classmates in year one, she referred to someone as morbidly obese and kind of sneered about the fact he didn't agree with doing pharmacology so left the uni.  He was my friend  He's now at Kings.  Ha!  Well I was inwardly 'letting this go' as I was giving her a pinch of salt.
At the end of the lecture she kept me back.
"How do you think your presentation went the other day?"
"Yeah ok."
She frowned and proceeded to tell me that I had insufficient evidence backing up my review and therefore would be very disappointed with my disastrous mark.  I was struggling to hear this.  Already I had dragged myself in with three slipped discs, a menopause going on and lots of pain all over. Some of which was caused by the massive amount of painkillers I had taken to get me through this.  Not only did I: think I had done ok. I thought I had done WELL.

My peers had also congratulated me too.

I revised the subject for an entire day.  To create a disaster.
The angle she was speaking to me had a feeling of 'you might as well give up now'. She asked if I was prepared to let anyone look at my next piece of work as it was so important to get a good mark and turn it around.
Devastated.

Erase Erase Erase. It would be wrong of me to critique her here.  Unprofessional.  Yet I feel a sense of something so different between her and me.  Honestly.
Instantly I felt my mental health slip back into a place I hate, a place of uncertainty about myself, my worth, my worry that I must be a really awful person in order to attract such ugliness in my life...
Refusing to believe this is me and my mental health, i let tears flow instead.  Silent crying.
Then come the thoughts of being alone and dealing with life.  Being not good at dealing with life when the mental health dips.

Something I do know is I want to forget about becoming a Dr.  Doing that Phd seems something so unimportant.

Could I retire next year?  Simply continuing to write and make films for my living.  Travelling.  Maybe forgetting the entire food thing. Taking care of my mother who has dementia.  Possibly fostering babies too.  Making life more simple....

I just feel :I want to quit. To run.  To make life simple and get to work on my back issue and definitely on my mental health.  Going swimming, walking the dog, all these things....

Life feels like it needs to be lived yet I feel broken hearted for the person who has been attacked from the inside out.  Yes, I'm sensitive, this is something I know.  But its who I am.

Right away, I am back to that person who feels like a sad person. Alone. Sensitive.

5am thoughts about my university work in year 3

Today, I am having a struggle.

Today, I feel better physically than I did this past week.  Pain, kidney infections, lumber pain, hip pain, more pain, leukocytes in my urine, blood, protein, ketones, so the dr sent me for an X-ray thinking kidney stones.  Shock waved its way over me as I was informed there is an intestinal blockage.  For someone with crohns, this is terrible news.  I began to write a will.

Realising that life sometimes teters on the edge of scary and fragile, I wrote a blog post over on my main website.  How life has taken over from me and has a life of its own now.  For the past 3 years at university I have felt the face of adversity telling me to come away from it all.  Really strongly and oh my gosh even writing it here, knowing you won't read it for 3 years, is just a massive sigh coming out of my body and onto the digital paper.  Oh gosh, I sigh literally.  Journalling is more than a therapy.  But in words I cannot explain.

Calmly, I feel like quitting. Yet for the past ONE MONTH is the first time in university I haven't wanted to quit.  IT was more than a nice feeling.  I have loved the workload, the actual work, the understanding of what is going on in the classroom.  Answering all the questions when others seemed not to be able to.

Epiphany hit me as i realised i was finally doing what I had wanted to do all these years.  I was becoming a nutritionist.

Just as I was about to fist bump the air, is when the health issue struck.
Knocked me off my feet. In and out of hospital.
Couldn't even manage to text without messing it up so it wasn't  a chance to get caught up on uni work.

This morning I feel a little better.  Quite a lot better in fact.  So i get up early to start some work.  5AM early.

Flipping the screen up on my laptop as i sit here drinking my coffee, listening to the dog snore and sending occasional chats to a uni friend who is visiting India, I feel a need to write.  Not nutrition stuff.  Not uni stuff.  This stuff.  Stories.  I want to write stories.  I could do that all day, and would do that all day, and should do that all day. I know this in my bones.

Lack of exercise and eating right has not helped my health. I want it back. I want me back.
Uni has knocked the stuffing out of me and I really wanted to end my stories on here with a positive twist of knowing I had a Phd and how it was all worth it in the end.  A PHD in science.  Wow makes me sound uber smart.
Without meaning to sound judgemental, many of the academics might have a flash title and all but not enough time or money to really live life in a way i really want to live life.  I want to travel and see things.  I can't due to all of this uni work.  Nothing else is holding me back.  Truly it isn't.
Part of me really loves uni but i think if i strip it back, i could gladly take my laptop into the coffee shop at uni, park the car and sit with my coffee and write for some time.  It's what I love.  It feels easy.  And it's what I want.   Taking photos, creating videos.

Let's be honest here.

Before I started university I was in debt.  I also was nursing a broken heart and feeling as though I finally had to deal with the fact I wouldn't have any more children. So I wanted something massive to deal with to take the pain away. And to pay to keep me afloat.   So here we are.  University final year. plus with a massive unconditional offer for a masters degree.  All online.  Food safety and quality management.  Do I want it? I'm not sure yet.
So the debt is pretty much gone.  The idea was this would buy me writing time to get things off the ground and making more money but I hadn't factored in aging parents, taking care of all that comes along with that.  Lacking in time to write, that then puts out my fire for life.  Yet it doesn't really as its still there burning away in the embers.

I need to research Arginine now and upload it on some portal kind of website thing but to be honest,  I feel like I'm frustrated and can't be bothered with it. Oh, another hot flush.  Is this menopause?  Dr says no.

Year 3 summary.  I love it. And I don't.  I have clarity on my future. That's quite priceless.

#examgate

Group chat:

Woah that was amazing guys

Yeah thank god. It's over and it was good.

What? Are you guys kidding right?

Anna and I were taking our exams in another room.  The other 4 of our group were in the main exam hall.
All in the hall were told to cross out the last 10 questions and were given another piece of paper which was totally nothing we had revised.

Anna and I were just given the usual paper.  Cutting a very long story short, the head of science was rude, defensive and not at all apologetic for this mistake.  Sadly for Anna and I (but fairly) all questions were erased.

The entire thing has all been a nightmare.  I'm getting sick of all this.

Revision - Main characteristic of Viruses.

NB this is my own revision and I cannot promise accuracy - do research.

Question:
a)  Discuss in depth the main characteristics of viruses

Viruses are not classed as living things as they cannot replicate without a host.  They do not have a metabolism.
Viruses spread using cells.
They have a protein coat called a capsid.
Viruses are very small, much smaller than bacteria.
They are difficult to treat.

b) Give a detailed account of the main events involved in a typical virus life cycle

A virus enters the body and locates a host cell.  As it fuses, it uses the protein coat to enter the cell.  Here,  it enters either a lytic cycle or a lysogenic cycle .  Nucleic acid will be used to reform DNA/RNA and change the genetic material of the cell.
The lytic cycle then sees the cell erupt making copies of the other cells.  Leaving holes in the cell membrane gives ease to apoptosis of the cell as it cannot survive without the membrane.
The lysogenic cycle uses DNA to hide in cells until immune comprimisation occurs.

c)  List factors contributing to viral pathogenicity and to the nature and severity of viral diseases.

Pathogenicity refers to the ability of an organism to cause disease (i.e. harm the host).  This ability represents a genetic component of the pathogen and the damage done to the host is a property of the host-pathogen reactions.

Natural killer cells are lymphocytes, they recognise this virus and kill.
The severity of viral diseases is dictated by the immune response. In several immune deficiency diseases including AIDS NK cell function is abnormal.
NK cells binds to cell and releases toxins which produces holes int he target cells membrane creating apoptosis.
NK cells may also contribute to immunoregulation by recreating high levels of influential lymphokines.

My results are all in

So it seems somehow, I passed.

Amazing news isn't it?  There was just one disappointment which was Biochemistry in my exam.  22%

22%? Well I felt I had done so so so much better than that.  Yet, worry not, I do feel I understood the content and I also passed the module as the other elements were great marks.  Pleased for sure!

Overall a 50% pass for Biochem.  Not bad as I missed so much of that.

The other results were amazing.  My PDP (the thing I added blogs to) got a whopping 85% which I was really so super glad about. I was hoping for a great score there.

Nutrition exam came away with 67%.

All modules were at the very least a 2:2 and most a 2:1.

This first year doesn't count towards the final grade marks yet I have learnt so much about what I may need to do to get a first (I'd love one of those!) and to be honest, I know it's not going to be handed to me on a plate.  Yet it seems incredibly possible depending on what else you might have going on in life.  For me, I need to work a little less on people's hair styles and spend far more time reading and in the library.  This coming year should be far far more interesting. Much less about the core science and more in which I'm hoping to relate to.  Immunology, cancer, metabolism etc.  I am doubly sure I will be learning so much about myself too and how I can help myself with my own health and diet - she says as she takes a sip of her latte - which would be amazing.

Emailing my tutor who was going to show me some good examples of well written papers and essays got no reply.  Well, it is the summer holidays.  My brain is a little tuned out too!

Yesterday I took a call from my mental health advisor from uni who is quite on the ball in all departments.  She is keen for me to continue to take care of my mental health and feels my physical health is all part of the difficulties dealing with the mental.

To be totally open on this blog though, I have definitely realised that I need to be comfortable in the skin I'm in.  I'm a person who loves to be at home, sitting at my desk and not being overly social in public.  That's just me.  It's who I am.  Realising that has enabled me to create a much better inner peace.  Ok, so here's the hippy in me showing through now.

I have so many super ideas on how I can create my ideal life and living from the beauty of my laptop. I am super keen to make this happen.  It just may mean some more late nights, which I am not so great at.

Today, my son takes his last GCSE and in two days, my daughter finishes too (did I mention they are twins?)  I cannot help but feel like punching the air saying "I've done it!" as I realise I actually lived long enough to watch them grow up!  Sounds daft now but when they were tiny I was an anxiety filled mess who really wanted to live long enough.  I would lie awake counting my heartbeats as it pounded with palpitations (these are the days before I knew I was allergic to gluten!).
Next year (early) they will be able to drive which will give me so much more free time.  Although leaving school, they are going to be at college which is directly next to the university! Amazing.

Hoping this will all work out well, I am continuing with putting as much time as possible into my blog posts and youtube videos in the hope that it really doesn't matter how many slipped discs I'm dealing with or what level of arthritis.  I can still work and keep myself doing all the things I love.

I'm excited for the future.  Just wishing I wasn't filled with doubt about me actually being able to make it all happen.

What about you?  How is your future looking?  Are you confident?

Sunny outside, revising inside

Yes, I woke excited for a day of study.  I do love it.  I really do.  So why am I so down on myself?

Why do I feel like I can't do it/ shouldn't do it/ won't do it?

At the end of the day, I would love to be Dr Usher.  Have that Harley Street clinic and likely travel for holiday companies and review gluten free food facilities.  Well, I think I would like to do that anyhow...

Just for today, I will learn some new things I haven't learnt properly before.

Just for today....

March

How has year 1 been?

March already.  Where is the first year going at university?

My good intentions were to add to this blog each week.  Recording my life lessons as well as my science lessons.  Likely the biggest lesson I learnt was that life gets in the way, even with the best intentions.

When you first begin to fill out that UCAS form, the type of questions you ask yourself as the applicant are likely to be, "Am I good enough?" "Can I pass?" and the like.  Now, however, it is more like, "Where do I find elastic time to magic some space to write that essay?"

Being a firm believer in testing yourself and taking life to the limits in order to learn, I have found a wonderful sense of accomplishment this year.  Simple things have shown me how I learn better as an auditory learner. Which is a shock as a partially deaf student.  Also, being a lover of technology, I thought I would fall in love with my new iPad we were supplied with.  However, it seems this is only one way I find ease in which to record my notes. I still prefer note pads and pieces of paper.

Chemistry is now making sense!

After learning more and more about nutrition I realise how thankful I am for the extended year zero at London Met last year. Without that insight into chemistry I may have found things tricky this year.  As always with life, there are highs and lows and lots to catch up on on my desk, laying around in organised piles.  

This first year at university I have found an affection for the beautiful red brick buildings around campus, for coffee in Starbucks each sleepy morning and the smiling faces who serve my vanilla latte.

I now know I want to do well, be the best I can be.  I have had to learn the lesson of this by lowering my work hours. I wish to continue my studies upon successful completion of this Honours degree.

Here's to the exam period and the second year.

Errors in Meiosis

Errors in meiosis                               Louise Usher                                                            

                                                             000850856-9

Meiosis is a crucial part of creating early life.  As humans, we have 46 chromosomes for all body cells.  Prior to reaching this stage of development,  gametes join to go through various steps of fertilization in order to form a zygote.  The zygote contains 23 pairs of chromosomes.  23 single chromosomes from the sperm and 23 from the oocyte.  Therefore creating the correct number of 46 chromosomes needed.  Thus,  a complete set of chromosomes from each parent is now stored as the cell goes into the next stage of development.

Errors in meiosis can be the result of several outcomes.  Genetic changes can cause diseases in these cases. 

As females have produced all their egg cells prior to birth, the age of the mother will also indicate the age of the eggs.  Womens eggs may take up to 45 years to reach complete meiosis whereas sperm is being produced all the time.  A baby will have a higher risk of genetic chromosomal abnormalities if the mother is older. 

Should an error occur in oocyte or sperm,  the resulting baby will have this error in every cell of their body.  Ref: geneticseducation.nhs.uk [accessed March 11^th 2016]

New alterations in the DNA sequence is likely to relate more to the fathers age. Ref: Voet, Voet and Pratt, Fundementals of Biochemistry, Wiley.

A genetic disorder is a problem caused by abnormalities in the genome.  Some genetic disorders can be inheritated from the parents.  Non heritable disorders of the genes can create defects in eukariotic cells caused by new mutations or changes to DNA while meiosis takes place. 

Genetics is central to biology. Underlying all life processes is gene activity. DNA is made up of two chains.  Each chain consists of building blocks nucleotides.  Within the nucleotides is deoxyribase, a phosphate group and a base.  The four bases are adenine, guanine, cytosine and thyamine.  In RNA, uracil occurs in place of thiamine.

The sequence of these bases within a strand determines the genetic information stored within that strand. Ref: Peter J Russell.  iGenetics 2^nd edition.  Pearson.

While a change in the sequence of the gene may have no effect (known as polymorphism) there is also a chance of a severe disruption of the function of certain genes. Ref: geneticseducation.nhs.uk [accessed March 11^th 2016]

Should gene function be disrupted in this way, diseases can result  These are known as mutations.

You can see below in figure 1 the differences in functional and non functional protein.

Errors in meiosis                               Louise Usher                                                            

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Fig 1 – functional and non functional protein

Variations in a DNA sequence depends on a number of factors

·      The size of the variant

·      The pathogenicity of the variant

Single nucleotide polymorphisms (SNP’s) are common.  This is just one type of a variant.  Rare genetic conditions can be created but mutations are specific to only an individual family. Ref: Peter J Russell.  iGenetics 2^nd edition.  Pearson.

Depending on how the error occurs determines if it is

·      Non – disjunction

·      Segregation errors

·      Translocation errors

·      Recombination errors

Segregation errors have eggs or sperm which create too many or too few chromosomes.  Fertilised eggs may have an extra chromosome of a particular pair (trisomy). Monosomy is one chromosome fewer in each cell.  Turner syndrome and Klinefelter syndrome can result from this.

Translocation errors have no crossover occurring.  Often resulting in cancers forming.  Burkitt lymphoma affects chromosomes 8 and 14.  Chronic myelogenous leukemia affects chromosomes 9 and 22. 

Recombination errors involves the swapping of genetic materials between both chromosomes of the same pair (homologous).  Side by side, they pair up, break, swap DNA and rejoin.  If the chromosomes realign and are misaligned, duplications can occur.  Extra genetic material or deletions are likely to occur which involves missing genetic material. 

In non-homologous pairs, the exchange gives chromosome translocations.

Errors in meiosis                               Louise Usher                                                            

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Reciprical translocation involves the swapping of material.

Chromosomes can also stick together end to end which is known as Robertsonian translocation.

Translocations can lead to extra copies of genes causing over expression resulting in disrupted cell function.  Therefore, the loss of generic material may lead to the cell missing copies of genes essential to this activity.

Congenital diseases occur when there are errors in Meiosis.  While the list is endless and growing all the time (some illnesses still are awaiting scientific evidence to confirm if they are due to meiosis errors or not) many diseases are born from such errors.

Muscular dystrophy is characterized by insufficient protein ‘dystrophin’ as you can see below in figure 2.

Figure 2 – chromosomes for muscular dystrophy ref: www.geneticsformedics.com

Severe combined immunodeficiency (SCID) is a heritable disorder where individuals have no functional immune system.  Minor infections can cause death in such individuals at a very young age.  The FDA approved the first human gene therapy trial in 1990 on a girl called Ashanti DeSliva.   She has an autosomal form of SCID originating from mutation of the gene encoding adenosine deaminase (ADA) which is an enzyme.  Some white blood cells (T cells)  were isolated and mixed with a

Errors in meiosis                               Louise Usher                                                            

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retroviral vector carrying an inserted copy of ADA.  As the virus infected many of the cells, a copy of the ADA gene was inserted into the genome of some of the T cells.

Many treatments of injection of these genetically altered T cells into Ashantis bloodstream and she also periodically accepted injections of purified ADA protein. 

More recently SCID treatment has involved bone marrow stem cells being used (see fig 3 below) with in vitro repopulation of the number of ADA producing cells.  This gene therapy has been somewhat successful in restoring health of a small number of children to date yet this is still considered the most successful example of gene therapy. Ref: King, Cummings, Spencer, Palladino Concepts of Genetics Eleventh edition Pearson global [776-777]

Fig 3. Bone marrow stem cell treatment in SCID  ref: thriving.childrenshospital.org

There are many more similar autoimmune illnesses such as crohns disease being researched to confirm or deny if a chromosomal mutation is responsible for the illness.

Crohns disease is related to chromosomes 5 and 10.  Should an individual have variations to the ATG16LI, IRGM and NOD2 increase the risk of developing crohns disease. Also, the IL23R gene is associated with Crohns disease. However, there is also an element that genetic and environmental factors play a role in this disorder developing yet many of the causes still remain unknown. Ref: Peter J Russell.  iGenetics 2^nd edition.  Pearson.

Many diseases result from chromosomal errors during meiosis. Huntingdons, muscular dystrophy, down syndrome, Turners syndrome, Cri-du-chat syndrome, Burkitt lymphoma,  Klinefelter syndrome and Cystic fibrosis are examples.

Cystic fibrosis has just 3 missing letters on chromosome 7.  This change effects the body’s epithelial cells that compromise the linings of the lungs, pancreas, liver, sweat

Errors in meiosis                               Louise Usher                                                            

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glands, digestive tract and reproductive system.  Usually, the epithelial cells release

slippery mucus to act as a lubricant, trapping dust and bacteria.  However,  cystic fibrosis makes epithelial cells produce a protein.  This leads to thick sticky mucus which can block the bronchial tubes.  Symptoms caused are coughing, tiredness, fatigue and worse,  often leading to the need for organ transplants.  The digestive tract is also affected causing lack of nutrient absorbtion and bulky stools. Ref: Peter J Russell.  iGenetics 2^nd edition.  Pearson.

Tay-sachs disease has just one abnormal chromosomal letter. Fatty materials in the brain should be dissolved under normal conditions.  However, with this error, the proteins do not work.  Fat builds up, crushing critical brain cells.  Infants with this disease appear to develop normally for the first few months of life.  As nerve cells become deposited with fatty particles the child becomes blind, deaf and unable to swallow.  Muscles also become atrophic. Ref: Steve Parker, The concise human body book, Dorling Kindersley

It is usual for the miracle of meiosis to happen without errors.  However,  so many individuals suffer with diseases caused by such errors.  While this causes sadness to all concerned and suffering, at what stage should medical intervention stop?

In vitro fertilization (IVF) has shown us that there is now technology to diagnose chromosomal abnormalities and therefore decide which humans are allowed to go on and develop as babies. 

Ethics dictate that this type of diagnosis should perhaps not prevent scientists from allowing these illnesses to be present in humans but rather develop ways to manage the illnesses. 

Bibliography

www.geneticseducation.nhs.uk

Peter.J.Russell iGenetics A molecular approach. Second Edition. Benjamin Cummings

www.youtube.com

Cystic Fibrosis, Sams Story

Bozeman Science “Mutations”

Arman Azad “Causes – Crohns Disease”

Renan Mauch “Cystic Fibrosis Pulmonary disease”

Shomus Biology “Chromosomal Disorders”

AK lectures “Chromosomal Deletion, inversion, duplication and translocation” “Aneuploidy and non disjunction”

Kristen Kopronski “Trisomy 21”

Steve Parker The Concise Human Body Book. Dorling Kindersley

Voet, Voet and Pratt Fundamentals of Biochemistry upgrade edition – Wiley

Klug, Cummings, Spencer, Palladino Concepts of genetics eleventh edition Pearson