Disappointment Number One!

From reading many IVF/PGD blogs I have learned that there is nothing more important on this journey than patience.  You're likely to end up disappointed, things may not work out how you planned, it could take a lot longer than expected and in reality, it may not happen at all.

We had our first disappointment this week when our first appointment with the genetics team was cancelled because the woman was off sick.  Obviously this cannot be helped but they haven't even rearranged it, we just have to wait to hear from them.  We've been waiting for this appointment since February so goodness knows how long it'll be before it actually happens now.  It's only a minor hitch but I was definitely looking forward to at least getting the process in motion and just learning a bit more about it from an actual medical professional.  

Time to just wait and see what happens, I guess...!

News!

Okay, so I have realised I'm probably not cut out for blogging.  I don't get sat down to write anything often enough and then when I try, so much has happened that all my thoughts are jumbled!

Since my last post ALS and I have been really busy so I'll try to categorise to make things simpler:

Powerlifting

ALS became the British and European Junior Powerlifting for his weight category last year and broke world records in the squat and deadlift in the process.  I won't go into too much detail here for those who don't know what it is but if it creates any interest I'll put more of a focus on it in the blog.

I tried my first competition on 1st March this year and amazingly managed to beat my own personal bests, qualify for the British Championships and break a British deadlift record in the process.

On 11th April both ALS and I competed in the British Championships.  I won my class and broke a world deadlift record and ALS came third in his category (a far more competitive category as he has not graduated from junior to adult).  Most importantly this meant we both qualified for the European Championships in Coventry, UK in June this year so lots of training will be going into this.

A lot of people, my parents especially, are very concerned about me doing this with my "condition" but I've suffered with far less pain and fatigue since training, I always warm up well, never push myself TOO hard and always lift under the advice of ALS who is well trained.  So yes, as I get older I probably won't do very well compared to others of my age and weight because I have to respect the limits of my body, but for now it's good fun and I'm only doing as much as I can handle.

Leisure Time

I have been trying to find ways of helping myself relax and unwind lately and have two new favourite past times.  I have taken up yoga, for now it's just once a week and due to the hypermobility I have to be very careful with my joints but I thoroughly enjoy it and feel a lot more relaxed during and afterwards.

My other new love (an old love rekindled) is reading.  As a child I read constantly, I always had at least a couple of books on the go and never really watched much TV or played video games if the option of reading was there.  Since I started with my medical problems I've struggled somewhat with concentration and I found it hard to read and take anything in.  Towards the end of last year I started reading Philip Pullman's "His Dark Materials" series.  They are young adult novels really so quite basic language and easy to understand and I managed to use them to get myself back into reading and really enjoyed them as well.  I'm currently reading Stephen King's "The Dark Tower" series which an absolutely phenomenal read.  I only started about a month or two ago and I've already read the first 3 books (which are not particularly short).  I can't put them down and I use my bath time to read to make it extra relaxing.

Future Plans

We have booked our wedding for 7th February 2016 - we have a church and reception venue but as of yet nothing else booked.  Definitely feels very real now and we'll have to start ironing out the details asap.  ALS' best man is in the Navy and being posted to the other side of the world in May for 2 years so there's a high chance he won't make it which will throw a spanner in the works but we'll figure something out... maybe a Skype speech?

Our house is now sold subject to contract and things are going well.  We are in the process of looking for somewhere to rent until our new house will be finished (should have been October but now more likely to be December).  The buyers are coming to visit again tomorrow and hopefully by then we should have a better idea of a timescale for moving out.

Most excitingly we finally got our geneticist appointment through today (after a lot of faffing around, letters and phonecalls to and from the hospital).  The service is run from a larger hospital in the city but the person we are seeing is coming to our local hospital which is great, except it's the hospital I work in and the room we are booked into is in the clinic where all the doctors I work for see their patients... this could get a bit awkward.  Hopefully I won't bump into anyone, it's not a process we're discussing with anyone at the moment as it's so far away that anything will actually happen!

Well, I think that's a reasonable update of how things have been for the last few months - I seem to be getting quite a lot of page views which surprised me to be honest but I'd love to hear from anyone who's reading this so feel free to leave a comment :)

Exciting news!

Well... another 6 weeks or so has gone since I updated this page but I have been very busy reading other blogs and following the journeys of some amazing women.

I'm off work today through until Wednesday next week seeing as I have my first powerlifting competition on Sunday and today we made the exciting first step on our journey to becoming a family.

Now I know I've talked a lot about me but the main focus of this blog is going to be our attempt(s) at PGD IVF which includes diagnosing certain genetic conditions before the embyros are implanted to prevent them from being passed on to your children.  Our reason for doing this is because ALS lost his mum to Huntington's Disease about 7 years ago now and may well carry the gene himself.  He doesn't want to know if he has the gene but also doesn't want to risk passing it on to any future generations so by using PGD, not only can we protect our children but we can do it in such a way that we don't find out if he has the gene or not - so many things can go wrong during the IVF process it's not uncommon to not get any suitable embryos even without the HD gene being tested for.

Anyway, we went to see his GP this morning to ask for a referral to a Clinical Geneticist who will help us to apply for NHS funding for the process.  The rules generally are that you get 3 funded attempts but only if you have no living children from the relationship (and other certain criteria relating to age, smoker status etc.) so if it works on our first attempt we'd have to pay for the IVF if we wanted to try for a second child - but it's still amazing that they're willing to help us protect our future family from this horrible disease and give us a good chance at it.

I'll explain more once we know more about the process but the idea we've been given is that it can take 1-2 years just to get the funding in place and we want to be able to start trying for babies once we're married (hopefully in February next year) and in our new house (hopefully in October this year).  So we have a lot going on at the moment and it doesn't feel significant but we have made a MASSIVE step today - which was surprisingly easy.  The GP pretty much said straight away that he'd write up a referral and we'd get an appointment through the post... we'll wait and see but ALS always seems to have far more competent GPs than myself so I'm keeping my fingers crossed.

If by some miracle it does happen quicker than we'd imagine and we get the funding in place this year, that's great and we can just delay the IVF cycle until next year in the comforting knowledge that we don't have to worry about applying for funding.

I'm sure to some people this doesn't sound like a lot but with the HD gene in the family we have to start preparing to have a baby a long time before we actually want to have one.  We can't just one day decide that we're ready, stop contraception and get going so it's nice to be at least a tiny way into that journey :)

Sorry

Once again I've neglected my blog but in the last few weeks I have had a lot of pantomime rehearsals (show starts a week today) and been given my job permanently so back to full time.

I'm currently meant to be getting ready for a party but instead I'm trawling the internet looking for what could be causing my latest issue.  My fingers on my right hand are twisted, only from the top knuckle upwards, but so that the nail is virtually facing my little finger.  I have no idea when this started but it's currently very noticeable and would probably explain all the pain I've been having in my fingers.

Parties aren't really my thing anyway.  Due to the amount of medication I'm on I can't drink really so I'm designated driver, which I don't mind, but by 9pm everyone is drunk, I'm ready for bed and ALS is having a good time so I don't want to drag him away.  Not my idea of fun at all.  I've set myself a limit of 11pm.  I have a 5-6 hour rehearsal tomorrow so I need to be in some sort of a fit state.

Ah well... off to the party I guess.

It's been a while...

Apparently I'm not as dedicated to this blogging thing as I intended to be but it's just been so busy lately.  In the last 3 months:-

1.  ALS and I put an early deposit down on a new build house.
2.  We have been trying to decorate every room of his current house (in the last 3 weeks)
3.  I've been up and down with illness.
4.  I've had more than a few mini breakdowns.
5.  I've had my hours cut back to 4 days instead of 5 at work.
6.  I've finally had an interview for my job (permanently) arranged which is next Thursday.

That's just a brief run down but believe me it's been hectic, not to mention preparations for Christmas.  I have a blog post mostly written that I'll post in the next couple of days but I just thought I'd update where I've been and how things are going.

On the Ehlers-Danlos front I am more than sure that it's exactly what my problem is and have found a doctor who's swapped my medication around to focus more on the pain side of things rather than sleep.  I've got an appointment next week to review things so we'll see how that goes - I'm hoping she'll send me to a Clinical Geneticist, especially if I explain we're looking to have children in the next few years and want to know the situation.

Wish me luck!

Brainwave!

Wow, it's been a while.  This last month has just completely flown by.  I've been really busy with my new job, getting pantomime rehearsals started (I got the part I wanted!) and just generally trying to keep on top of housework etc., not to mention trying to get started on wedding planning.

I'm thoroughly enjoying the new job and after a discussion with one of the consultants the other day I'm beginning to think I may have all the answers about what's wrong with me!  When I was about 15 I was sent to see a Clinical Geneticist who mentioned that she suspected a diagnosis of Ehlers-Danlos (Type 3) Syndrome which is characterised by hypermobility, fragile skin, easy bruising, pain, neuropathy (which is what's going on with my pins and needles feeling in my hands) and, among other things, an insensitivity to local anaesthetics.  This could explain a lot!  I have all of these symptoms and if this is the problem then it's more easy to diagnose and, although again not curable, there's a lot more known about it so management should be easier.  Going to get myself booked into the doctors next week and hopefully get some answers - seriously can't believe it never got mentioned again after the Clinical Geneticist told me to look into it.  Just happens to be fortunate that I'm now working in a medical environment!

I know I did mention this in a previous post but I've always been kind of vague about the symptoms.  The more I hear about it, the more I realise that this is actually the answer to all my problems!

Happy Times!

This week has been hectic but great...

I had my hospital appointment on Tuesday and was told that it's almost definitely not carpal tunnel syndrome.  I saw the Consultant that I was meant to have seen in the beginning and he was far more helpful and looked at me as a whole instead of just the specific thing I'd been referred for.  He's suggested that the problem may stem from my neck as I have a lot of pain there and it's probably just a trapped nerve or something so he's arranging an MRI for me and I'm back in six weeks for the results... fingers crossed I get some answers although I'm sure the test results will be 'normal'.  Apparently there's definitely something wrong with me but nothing that tests will ever show up and nobody can figure it out.

I started my new job on Wednesday which (despite a few glitches in the system and me not having half the things I need to do my job thanks to poor management) is FAR more interesting than my last job already - and I've not even started the real work yet.  I have a lovely team of people to work with and it's far better pay than before, plus I don't get time to pig out on junk food.  It's also been a bonus not typing for the first few days - given my hands and neck a rest.  Hopefully the enjoyment lasts as I can see it being a great job.

I also had a pantomime audition on Wednesday which I feel went quite well.  I won't find out the outcome until 1st September but if I get it I've been warned the costume will be quite skimpy so a good incentive to keep myself in shape.

Other than that it's been a pretty standard week but I've felt pretty well, had some good gym sessions and enjoyed a fair amount of 'me-time' this weekend whilst ALS has been at work all weekend.

Now to get all my cleaning finished and get some food before ALS gets home!