Return of the Bouche

A couple of months ago, I realised that I hadn’t blogged for a while and I thought to myself that I should get back to it and write a post. But, if I am honest I just couldn’t be bothered. It wasn’t that I had fell out of love with the Bouche blog or that I didn’t want to write (I have had plenty to write about!) I can’t even say I haven’t had time as I had six and a half weeks off in the summer after having carpal tunnel surgery!
I can’t really pinpoint what has made me not want to blog. It is probably been an amalgamation of things. I know feel like I want to blog again and hopefully this time, I won’t lose my momentum.

My last post told of my pending motor test for HD and touched very slightly on how I was feeling about it. I was very nervous as I had convinced myself that I was showing signs of HD. I have always had a firm plan regarding any kind of testing for Huntington’s disease.
I am very anti having the genetic testing for Huntington’s disease done. I have always said that if I was concerned that I was showing symptoms that I would have the motor function test done first. If this showed that I was showing some symptoms, then I would have the full genetic test done.
So I had the motor test done and I am not showing any symptoms of HD, which means I won’t be taking the gene test in the foreseeable future. Which came as huge relief. It also gave us the green light to start trying for a baby. Our baby plans came to a halt last year as Mr Bouche’s mum was diagnosed with lung cancer in February 2012 and passed away in November 2012. But, we decided to start trying in July this year (I have another post on this, following shortly!)

I have put all my personal fears to rest for now. However, Daddy Bouche has been going downhill slowly in 2013. Nothing major, but I just know in his eyes he has had enough. He has had some chest infections and his eating has become a little erratic at times where he does not want his food when being fed. He coughs quite a lot when being fed and his feeding is becoming a concern as he cannot be fed safely anymore.
After a meeting with his gp, speech therapist and staff at his home, it has been decided between us that he will have a peg fitted to feed him directly into his stomach. I have really battled with this in my head as his eating was the last one pleasure he had (albeit eating puréed food). I feel like I am forcing something on him that he wouldn’t want but I also cannot let him be fed dangerously or not at all. It has been really hard and we are just waiting on the appointment for the gastroentologist.

My younger brother M has also decided to have the HD test a few weeks ago and he gets his result next week. I am terrified for him. There is a part of me that thinks he has HD and I have done for a long while but I still hope that he is HD free. My wonderful uncle (Daddy Bouche’s brother) had the test earlier in the year and was negative which was amazing news. I just hope M has the same result!

More to follow……

Bouche x x x

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Something on my mind

Blogging has been the last thing on my mind recently.

Regular visitors to Bouche in the City will know that my father has Huntington’s disease and that I have a 50% chance of inheriting HD. I have never been tested and my mantra has always been that I will not be tested until I became aware of possible symptoms of the disease.

I guess for a long time I was not concerned and I guess deep down I thought that I didn’t have HD. I have a good memory, I wasn’t showing any motor symptoms and I wasn’t showing any emotional symptoms.

That was until last summer. I had some work done on my teeth and I had noticed that I occasionally bit down on my crown, which caused me to pull a face. It soon passed after a couple of weeks, or so I thought. Then after several months, my mother and husband noticed that I did it quite frequently. I am not aware that I do it and if I really concentrate then I can stop it.

During the same time, I also noticed that I would get involuntary movements in my feet and would get pains in my legs, at night whilst asleep.
I didn’t mention it to anyone, not a soul. I desperately wanted to tell my husband, but his mother was battling cancer and was very poorly. We needed to focus on her and making her comfortable through the cancer treatment.

My mother in law passed away in November. It was a difficult time (still is to be honest) I focused on being there for my husband and put my concerns back in the box in my head. I started to feel so angry about my mother in law’s death and would often find it hard to keep my emotions in check.
After Christmas, I decided I had to book an appointment with the genetic counsellor for the new year. It was after I had arranged it, I told Mr Bouche. He was obviously upset but understood why I needed to see her.

I went to the appointment and after speaking to the counsellor, I have decided to see a geneticist to have a motor test done. They will be able to observe me and conclude whether I am showing signs of HD. Depending on the results of that test, I will then decide whether to have the full gene test or not.

There is so much to think about and I am terrified to be honest. I am trying to be positive but some days that can be really hard. I will probably have a few weeks wait before I see the geneticist and is going to feel like the longest wait ever. But, what will be, will be.

A nervous Bouche

X X X

New Years Resolutions (goals)!

I have never been big on New Year’s resolutions. I have been a smoker for the best part of 18 years, although I did give up twice (once for 18 months and once for 10 months). My husband is a non smoker as are most of my friends. So when resolutions creep into conversation, I am often asked whether I will give up smoking for new year. The question always makes me feel embarrassed, like it should be my resolution and I guess this is why I don’t really believe in New Year’s resolutions, as I should be giving up smoking.

However, 2011 was tough for me on both a personal level and a professional one. So I have decided on a few goals (not resolutions) that I wish to achieve in 2012.

I dislike my body immensely. I had high hopes for weight loss in 2011 and although I lost 17 pounds in total (after gaining some pounds), I do intend to change my body in 2012. I am not going to diet but to change the way we eat in the Bouche household. Mr Bouche is to reduce his portion size (he does most of the cooking) and I am going to exercise in a way to lose the weight and I want to a shape my body to how it once was.

For the majority of 2011, I had a job I loved until I was made redundant in November. In 2012, I will challenge and push myself totally out of my comfort zone, in order to find a job I love and a job, that challenges me everyday.

In 2012, I am going to be less pessimistic, a better friend and less of a worrier / stresshead.

I am also going to blog more, and blog better! I have been pretty poor the last couple of months. I plan to go to Cybher this year and will network my butt off, along with having some fun. I started this blog to have a place to vent and to jibber and now after doing this for almost a year, I think I can make this blog something better.

Happy New Year everyone and hope you will continue to read and follow me (hopefully) completing my goals!

Bouche x x x

Goodbye 2011

So that’s it. 2011 is over and 2012 is upon us. I can’t lie, 2011 has been a disappointment but that said I thought I would give you a run down of Bouche’s year anyway!

January – I started my blog! After months of tooing and froing I finally did it! Mr Bouche turned 32. I joined Weight Watchers, with the view of losing three stone.

February – Was a quiet month but I spent 5 hours at Guys hospital having my root canal treated. I helped a good friend move into her home after a turbulent 18 months for her

March – Little J turned 9 and I suddenly realised that he as becoming a young man. My good friend Doris and I headed to the cinema and ended up in London Gallery’s and had a fab night. Mr Bouche took me on a date, even though I had, had three hours of root canal treatment!

April – April brought Easter and lots of family time. I spent lots of time with Daddy Bouche. I also visited my GP to be referred to the genetics clinic at Guys. The first of the 2011 babies was born to a good friend and he is a beaut. Our girly trip to Butlins was booked for later in the year. The royal wedding brought a houseful at 11am and some hangovers the next day!

May – The second of our 2011 babies arrived and he is a handsome chap. My mother in law turned 60 and we had a lovely day at my sister in-law’s. More root canal treatment for Bouche and a big girly night out. We also went for our first appointment at Guys Hospital to discuss our options at the Genetic clinic.

June – My sister and law and I headed to Wembley to see Take That in concert. June also saw Huntington’s awareness week and the summer party at my Dad’s home. I attended an Ann Summer’s party which was more than fun. We also had a family get together at Mr Bouche’s Dad’s house and I finally met his aunt from New Zealand.

July – July brought the third of our 2011 babies and she is absolutely adorable! I also headed to Essex for Essex Polo which was hilarious and so much fun. Amy Winehouse passed away and I wrote the saddest tunage tuesday. July also brought a client go karting event at work and despite being very competitive my team came second from bottom!

August – I bravely had my second tattoo, of our wedding date in roman numerals on my wrist. We joined the local Huntington’s Disease support group for a meeting and made some new friends. We also celebrated our first wedding anniversary and had a bit of a shindig at home.

September – I turned 32, this involved a carvery lunch, a girly breakfast on my birthday, dinner with my aunt and uncle and a big girl’s night out. We also took Little J to the O2 to see Batman live. Babies number four and five arrived (twins) and are real smashers! I took my cousin to a wedding fayre and she asked me to make a speech at her wedding. Both Mr Bouche and I were personally affected by 9/11 and we remebered the date by purchasing a beautiful canvas of New York for our lounge. I also worked in the disaster recovery site and got to see Daddy Bouche lots that week, as I was based near his home. September also brought worry. We went to Guys Hospital and after they had looked at family history, they wanted to test me for a duplication of chromosome 15. It was one long week but all was well and I was negative.

October – October started with a sex and the city afternoon tea in London and a family bbq at my aunt and uncles (otherwise known as mum and dad number 2). We had a wedding reception which was fab and a visit to Mr Bouche’s uncle’s restaurant in London. I started organising my cousin’s hen weekend. Work was frantic and looked as if we were in trouble and our jobs were at risk.

November – We had another wedding reception, a 30+1 birthday party and the girly Butlins 80’s weekender. It was also the month that my company collapsed and I was made redundant along with half of the company, with the further 50% go early in 2012. With that it brought leaving drinks and an interview.

December – The start of my unemployment! My little sister was 9 and we had a tea party at Casa Bouche. I had a girly curry evening. Lots of christmas shopping was done. I met up with my cousin for some wedding preparation shopping. I signed on. I claimed ppi. We had an appointment at Guys and missed it as we were stuck in traffic. I had two interviews and am still waiting for the result. We had a visit from an absent friend. I avoided my family at christmas (I saw them on the 23rd, this isn’t really christmas is it?). We saw Little J on christmas eve and gave him his presents. Christmas day we visited Daddy Bouche and then came home for the Bouche’s christmas where we saw no-one but ourselves! Boxing day, we went to Mr Bouche’s sisters (www.cherishedbyme.com) and had a lovely day. The 27th saw us at Mr Bouche’s Dad’s which was eventful as usual. The rest of December has seen me mainly eating cold meat, cheese and pickles and drinking wine in my pj’s! I have managed to apply for some jobs and have an interview lined up for early January. Mr Bouche and I spent New Years together in doors, toasting the new year in and ushering 2011 out!

What will 2012 bring? Below is what I know will happen for certain!

An interview in January, which I hope will be successful and bring a whole new adventure.

A wedding in February. Mr Bouche’s best friend’s sister gets married.

A hen do in March organised by myself for my darling cousin.

A wedding in April, where I will be the acting mother of the bride and will read a speech about my fabulous cousin in a father of the bride fashion.

Little J doing his 11 plus. Wowsers, where has the time gone?!

The Olympics hitting London.

Our nephew goes to university.

Everything else will be, no doubt a rollercoaster!

Happy new year everyone, lets hoping 2012 will be fantastic!

Bouche x x x

A plan that works

My baby plans are not going quite to plan. After our last appointment at Guys, Mr Bouche and I decided that we would try and get pregnant naturally, and go for the CVS testing at 12 weeks once we are pregnant. We discussed when we would start trying and we agreed that we would start early 2012.

I am already 32 and aware that time is a factor, bearing in mind that we need to have these CVS tests and we may not have a HD embryo on our first attempt. So as far as we were concerned the sooner the better.

This past week has been pretty rotten and our quest to start making babies could be postponed as my job is now at risk and I am likely to be unemployed come the end of November.

I know I should be more sad that all my hard work and career progression is coming to a close and that I will need to start again but I am more sad that Mr Bouche and I cannot start a family as we had hoped in the new year.

I can’t seem to go onto facebook without seeing another pregnancy announcement. It seems even girls that I least expected to be announcing a pregnancy, are at the moment and I feel like the last one to do so. Yes, I am jealous. I want a baby! I want to show off a scan picture and tell people that the weight around my middle is not caused by my love of wine and crisps but a little human being.

Nothing ever seems to go to plan with me and starting a family is definitely not following the plan I had envisaged! I guess I will just have to create a new plan. Maybe a plan that will actually come to fruition!

A plan that works!

Bouche x x x

Something else to deal with? The next steps

For those of you who read my blog regularly, you will be aware that I had to have a test last week to determine whether I had a duplication of chromosome 15, which my father and brother have. We are considering our choices for having a Huntington’s free baby and this new information and test was a massive curve ball.

Please see the first post here…

https://boucheinthecity.wordpress.com/2011/09/20/something-else-to-deal-with/

Our consultant at Guys advised that the results would be back in two days. After a four day wait (the NHS hey!) the results came back and they were NEGATIVE!

I can’t tell you what a relief it was for both myself and Mr Bouche. Lots of tears flowed and we had a good conversation about how we wanted to progress.

It came to light at the appointment that we had misunderstood genetic exclusion testing. This is where we will provide the hospital with our blood as do our parents and they create a genetic profile. We then try to get pregnant naturally and at 12 weeks they do a test on the foetus. We believed that the test would be for the HD gene and thus if positive, I would have the gene. We were very anti this as I do not want to be tested. However, what actually happens is they test for the baby’s genetic make up. Lets say My Dad is A, my Mum is B, Mr Bouche’s Dad is C and Mr Bouche’s Mum is D. A, B, C and D are made up of two parts (inherited from our parents, parents). So only one half of A has the HD gene (the part from My Dad’s mum).

The prenatal exclusion test will consist of the genetics team testing the cells derived from our foetus and will check the DNA to see which combination of A, B, C and D the foetus has inherited. If the foetus has B and C or B and D we are good to carry on with the pregnancy. If the foetus has A and C or A and D the baby is at risk of Huntington’s disease and we will be given the option of terminating the pregnancy.

We have made the decision that we are going ahead with a natural pregnancy and will have the exclusion testing over the PGD IVF. We have also made a decision that we will only terminate two pregnancies. If the worst happened and we terminate two pregnancies, we will enrol on the PGD IVF programme.

It has been a hard decision to make but we feel that although terminating a pregnancy would be so difficult both mentally and physically, we feel this may be better than the emotional rollercoaster of IVF.

I know some people won’t understand our choice and may even disagree with terminating a pregnancy, we are living the devastation that has been caused by this awful disease. So we feel we are justified in making such a decision as we don’t want this disease to destroy anymore lives.

Bouche x x x