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

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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

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

Something else to deal with?

The past month has raced by and before we knew it, we were fast approaching our appointment with the PGD team at Guys hospital. Last Friday, I received a message from our genetic counsellor asking us to come in earlier so they could go through some history and dot some i’s and cross some t’s.
I can’t pretend this didn’t make me nervous and over the weekend, I tried to keep it to the back of my mind.

I woke yesterday full of nerves and apprehension. Mr Bouche and I made our way to Guys hospital and were met by the genetic counsellor and taken into a room. She explained that the PGD specialist had looked into my family history.

My brother had been diagnosed with a duplication on chromosome 15 a few years ago. At the time, because I was well the doctors believed I was unaffected. However, with advances in genetic medicine it now seems you can be a carrier and not be affected by any symptoms.

So what does this mean for me? My brother inherited the chromosome duplication from Dad and thus I have a 50/50 chance of inheriting it. So I had to have a blood test to determine whether I have. My brother is fairly well but as he has inherited it from his father the symptoms are mild.
However, as a woman, if I was to pass the chromosome defect on to my children the effects are a whole different ball game.

So if didn’t have to worry about passing huntington’s on, I now have to worry about chromosome 15 duplication. This defect can cause birth defects, growth problems, seizures, cleft palate, communication delay and mental retardation.
Thankfully, they have taken my blood and I will have a result back later this week. I would be lying if I said this new information hadn’t put me on another leg of the emotional roller coaster but I have to wait for these results patiently. I also have to stay away from google! The temptation to research is there but I must resist until I know whether we have this to deal with.

To be continued ….

Bouche x x x

A Mad Fortnight

Bouche has had a manic couple of weeks. Work has been crazy and leaving the house at 6.30 am and returning at 7.30pm has meant that I haven’t had much time for my beloved Bouche in the City.

So apart from working like a trojan, what has been happening in the past fortnight? Well, being busy at work has meant that, I have had very little time to eat as well as other things. Which has meant that even though I have not been tracking my Weight Watcher’s points, I have still managed to lose weight. This has meant that I am just 6 pound off target, for the PGD IVF programme at Guys Hospital, London.

We have had a letter from Guys to say that I need to join a Smoking cessation clinic in order to proceed with the funding appointment at the PGD clinic at Guys. I knew this was coming, I do like smoking but I know it is bad for me and will hinder the PGD process. I am not a big smoker at just 5 a day (plus more if I have had a wine!). I have given up before and know I can do it. So, next friday I will go to the clinic and start the process to being a non smoker so we can have a HD free baby.

I have spoken to the genetic nurse and they are happy for us to come for an appointment now, they know I am giving up smoking and am very close to the acceptable BMI. I asked how long it would take for an appointment, and was told that we will be seen with four weeks.

My reaction? Wow, this is actually happening! I was quite negative after our first appointment, which created lots of tears and emotions. After lots of tweeting, facebooking and searching on the world-wide web, I am in a very different place. I have been introduced to stories of couples that have been successful and I am now in a place where, I know we will do whatever it takes.

This past thursday, Mr Bouche and I went to a HD support group and we have decided that we are going to actively network with families that are effected by HD. We hope that we will learn about people’s positive experiences and how they live lives to the full whilst suffering HD.

So what else has happened? Mr Bouche started a new contract three weeks ago. This has necessitated Mr Bouche getting up 4 – 5am. The broken sleep has killed me, even though I am usually up 6am. With work being so mental, I have not been getting home until at least 7pm, and with Mr Bouche heading off to Bedfordshire (bed) at 8.30, we have been eating dinner and parting ways. That said, I have been catching up with my ‘crap’ programmes that are sky plus’d and we have really embraced the time we have had together. We have far more productive conversations in the 90 minutes we have together, and we both seem to be more appreciative of the time.

Little J is on school holidays, which can be a challenge in itself. He seems to thrive on the structure of being at school and the past few weekends have been challenging. That said, he is adapting better to the idea of having a sibling although he is keener to have a brother than a sister! (Not sure we can determine this boyo!) Little J is also adapting to our post marriage style of parenting, I am old school and Mr Bouche is becoming more like me (old school) by the week and Little J is readjusting well.

I have managed to fall out with two friends and make up again and allegedly been a good friend without realising!

My mum seems to have had a personality transplant and we have been getting on well. I have also managed to laugh myself and my colleagues through a difficult couple of weeks at work!

So what is next? Losing that dreaded 6 pounds in the next few weeks, packing in the cigarettes, having a get together to celebrate our 1st wedding anniversary next week, my 32nd birthday in three weeks, a birthday dinner, two birthday drink ups and a week off work. I love having lots going on and the next four weeks will hectic woop woop!

 

Bouche x x x

It could be you

Last week the Weirs from Scotland scooped £161.5 million on the euromilllion lotto draw.

That got me thinking what I would do if I won such a grand amount of money.

First on my list would obviously be to hand my notice in! I love my job, but if I was loaded I wouldn’t be dragging my arse into the city everyday, that’s for sure!

Next, would be to buy a special someone’s house so she wouldn’t have to move.

Onto my property portfolio. I would buy us the family home that we’ve always dreamed of. Lots of character, somewhere with space, somewhere where little j will never say ‘I’m bored’ (I am very optimistic about this ha)

I would obviously let Mr Bouche loose on some car dealerships!

Next we would buy our dream place in Ibiza. Somewhere in the hills.

I thought about moving Daddy Bouche into a lovely place with private nurses but you know after some thought, I wouldn’t. He loves where he is and they take care of him so well. Therefore, I would give Birling House a substantial amount of money so that they never had to worry about funding.

After a lovely family holiday. We would make sure all our friends had a little something and of course send the in law’s off to Thailand to find their dream home.

Obviously some serious spending would need to take place. I can shop and bugger me I would!

Next, Sod that NHS funding! I would be at Guy’s with my £8000 and would start the first PGD IVF cycle.

Money can buy you many things but all that money wouldn’t give Daddy Bouche his health back and I couldn’t buy more time with him, when he was well. Plus, there are no guarantees that even with all that money that the IVF would work. Hmmmmm

Would the money change my life? Hmmm probably not! I would have more stuff and I could make other’s lives better, but it may not bring me a HD free baby and certainly wouldn’t bring my Daddy back 😦

Bouche x x x

The waiting game

It has been 6 weeks since our initial appointment at guy’s hospital with the genetic counsellor and we are still waiting for our referral appointment with the PGD team.

So being the impatient cow that I am, yesterday I called them to chase it up. I was a little disappointed to learn that we had only just been referred and that we would have to wait about 8 weeks for our next appointment. However, being told that we would have an appointment with the PGD team in 8 weeks has made it seem real once again and I am starting to get that mix of emotions, that I had a few weeks ago. I am excited that the ball is rolling, nervous as we will apply for the funding and apprehensive as I know it is a bit of a long shot.

I was happy to learn that all my rollercoaster emotions are totally normal. The genetic counsellor did say she would be worried if I hadn’t been a bit emotional!

I know I am ready for this now. I am surrounded by lots of babies and bumps at the moment. Everyone I know seems to be pregnant or have a new born. I honestly never thought I would ever say this, but I am a little envious. I can’t go one week without a new baby announcement or a pregnancy announcement. A good friend of mine is overdue so there will be a new baby to cuddle next week J

I know I have to be patient and that maybe this will happen for us. I just can’t seem to be able to wait for anything! Plus, it seems I am thinking about this far too much. We need to be focusing on the now and doing the things in our life that we cannot do when you have a baby and not worrying about what will happen in the next couple of years. I need to give my brain a rest. Why can’t I just relax?

There is a pack from the PDG team at Guy’s on its way to us at the moment. When it arrives, I know I will read and pull every piece of information apart. That is what I do! I also have a programme sky plus’d that was shown on BBC2 this week about testing your genes. There is a piece in the documentary which explains the PGD IVF so of course I will be pulling that apart this weekend. I am pleased there is lots of information out there, but maybe there is too much for someone like me! I need to stop googling and start relaxing!

I just wish I could be more patient and go with the flow!

A very impatient Bouche x x x

Being Punished for doing the ‘right’ thing

Those of you that have been reading my blog for a while will know I have a terminally ill father who is in the latter stages of Huntington’s Disease.

You may not have heard of Huntington’s, but it is a neurodegenerative genetic disorder that affects muscle co-ordination and leads to cognitive decline and dementia. My daddy is 55, he has no motor skills, cannot eat by himself, cannot stand, cannot wash himself, cannot speak although I can communicate to a certain degree with Daddy. I am a Daddy’s girl.

His diagnosis, when i was 13 rocked my world and eventually destroyed my family. My Dad inherited the Huntington’s gene from my Nanny. She was diagnosed a little after my Dad. My Dad was 37 at diagnosis and Nanny was 58. We know that Nanny inherited the disease from her mother, who was institutionised in the early 70’s (they didn’t know what Huntington’s was in those days). Nanny’s aunty Violet also had Huntington’s but was not diagnosed until she was 87 and she passed at age 92. It is probably important to mention that she was pretty well until this time and had a wonderful life. My Nanny passed in 2007 aged 71 after a pretty eventful life.

My dad is 55. He is confined to his chair, wheelchair or bed. He cannot use the toilet, he cannot tell me about his week, he cannot eat solid food but is so handsome and has a smile to light any room. He loves me. He loves my husband. I know this, because when we went to tell Daddy that we were getting married, Daddy cried. He held out his hand and held Mr Bouche’s hand so tightly. He looked at Mr Bouche deeply and looked at me and smiled. That was his blessing!

So here we are, almost 10 months after our wedding. Where Daddy booed when I came down the stairs and booed all the way through the ceremony, and we made a decision a month ago. We want to have a family and give Little J a brother or sister.

We made a decision, even before we got married, that we would do all we could to have baby that was Huntington’s free. I have not been tested. I am not showing any symptoms and I am very much a believer in living for now. I could be tested and they could tell me that I don’t have the gene, or that I have the gene and sometime in my lifetime, I would get Huntington’s. I am 31, I could be like Great Auntie Violet and not get it until I am 87. I don’t want to live my life, like a waiting game until I get Huntington’s.

So how do we have a baby that is Huntington’s free?

We could have prenantal testing. Where we would concieve naturally then our unborn child would be tested for the gene at 11 weeks. If the result was positive then we would have to make a decision whether to carry on with the pregnancy, plus I would know that I was carrying the gene. Terminating a pregnancy and giving myself  a life sentance are both options I am not keen on.

We had discussed the options, even before we got engaged and got married. There have been advances in genetic medicine and we always said if we could use an IVF technique to ensure we would have a HD free baby we would. Earlier this year, I read some articles and did some research. We learnt of an IVF procedure where they could screen my eggs for the gene, discard the ‘bad’ gene and go ahead with IVF with the good eggs. It is important to add that, We would not know if there were any HD effected eggs at all. I did some research into IVF and the success rates, and it seemed our chances would be in the region of 50 -70%.

On thursday, we went to Guys hospital to see a geneologist and a genetics counsellor. We discussed what we wanted and the family history (which they knew) and during the meeting it was decided that Preimplantation Genetic Diagnosis (PGD) IVF would be the best option. It was explained that my ovaries would be stimulated and that in itself could kill me. After further information was provided, I asked what the criteria for funding was. This type of IVF is £8000 a time! We were told that our age and the fact we were married was a plus, but Mr Bouche being a father to little J was a negative. We did explain that Little J had Aspergers and this was seen as plus. I also asked what the success rate of PGD IVF was and was told it was 20%. We were advised that we would be referred to the PGD team and should have an appointment in the next couple of months. We finished our consultation and got the train home. Thursday evening passed in a blur, there was so much information to take in.

Friday morning I woke up and showered. The information had hit me and I broke down. I sat in the bath, with the water from the shower beating down on me. All I could think of was 20% success rate and the posibility that we would not get funding. The baby, which I wasn’t sure I wanted right now, was all I wanted. I never realised how much I wanted a HD free baby and the reality was that it was going to be very hard.

It has been a hard couple of days. Mr Bouche has been amazing and has reassured me that we will do whatever it takes to do this. All we want is a baby free of this awful disease. We believe that the single most important thing you can do as a human, being wishing to be a parent is to give a baby the best start.

Why is it so hard to do the right thing and bring a person into the world free of gene that could destroy their world?

To be continued…

Bouche x x x