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

Happy birthday Daddy Bouche

Today is Daddy Bouche’s birthday. He is the grand old age of 57. Mr Bouche and I wanted to do something a bit different for Daddy Bouche’s birthday this year. He has suffered a few infections these past months and for a time, wasn’t his usual self. The infections have passed and during the past month or so he has been much like his usual self. Obviously, some days when we / I visit he is having an off day but the past few visits he has been vocal (not in the word sense but in the noise sense) and has laughed a lot. I do like to joke and tease Daddy Bouche so it is great when I get a response of some kind and for some reason Daddy Bouche finds me funny!

I really wanted to take Dad out for the day. It has been 6 years since I last took him out on my own (when he could still walk) and I remember having such a fun day out. It is impossible for Mr Bouche and I to take him out on our own as we cannot fit his wheelchair in our car. It also concerns me that I may not be able to do what a carer can do for him. I am terrified of feeding him, in case he chokes and the thought of having to change him (he is incontinent) leaves me cold. Dad was a proud man and to do that would horrify both him and I.

So after a conversation with one of mine and his favourite carers, she suggested that we went out in the home’s minibus and went somewhere that had memories for both Dad and I.

So yesterday we went to whitstable. I grew up in the south of Kent and we visited Whitstable when I was a child, frequently. Dad had a speedboat and we used to waterski from Whitstable and from the surrounding coastline.

I have been off work this week and the weather has been pretty pants so even up until yesterday morning we weren’t sure if the weather would hold up for us. It seems we had Mother Nature on our side as it was a glorious day.

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We wandered past the harbour and saw the fishing boats, took in the sights of the seafood market, browsed the wonderful shops in town and admired all the beach huts and houses.
Dad normally has a couple of naps during the day but he stayed awake the entire time and smiled all day (unless he is having his picture taken as below!)
We drove a short distance and went to a wheelchair friendly place for lunch.

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We had such a wonderful day. It was the happiest I have seen Daddy Bouche since our wedding, two years ago. I am a little bit cross with myself that I have not done this sooner as we both enjoyed it so much. One thing is for sure, we will be going out on more trips in the future.

Happy birthday Daddy.

Lots of love

Your loving daughter

Bouche

x x x

A right to die

If you are someone who doesn’t read newspapers, watch the news or actively participates in social networking then you may not of heard of the case of Tony Nicklinson. For those that do, you will probably be familiar with Tony’s story.

Tony Nicklinson is 58 and suffered a stroke in 2005 and has been suffering with locked in syndrome ever since. Tony has been paralysed ever since and is unable to move anything apart from his eyes and head. Tony has been fighting the British judicial system to allow a doctor to end his life. Tony is deeply unhappy and does not want to carry on with the life, he now lives. He has no motor functions has very little dignity left and wants to end his life.

Last week in the high court, Tony lost his case to change the law on assisted dying. Even though Tony cannot speak, when he heard the news it was obvious how he felt. Devastated.

Although, Tony vowed to carry on fighting. He obviously felt that the fight could not be won and started refusing food. After refusing food after the judgement, Tony caught pneumonia and died at his home on Tuesday.

Tony’s case probably has touched every person who has read about it. For me, it has touched me so much more. My dad has Huntington’s disease and is very much like Tony. He knows what is going on around him and although his memory isn’t very good, I can talk about things with him and he understand and reacts. Like when Mr Bouche and I told him we were getting married, he cried. He cried during our wedding and when I joke around with him he laughs. He cannot speak, has no motor functions and has no real quality of life. I know deep down he would not have wanted this existence. He was such a proud man and to be left the way he is, is extremely sad.

I have 50% chance of having Huntington’s disease too. Mr Bouche and I are doing the necessary to have a baby free of HD, as for my fate we will have to just wait and see. I do not want to be tested. I don’t want to know my destiny. I worry already. I see things I do and wonder if it is HD. There is a big part of me that thinks I have it. If I had to guess as to whether I have it, I would say I am 70% sure that I have HD.

If I do have HD then I know my fate. I will eventually be like my Dad and other HD sufferers I have seen. I will be like Tony Nicklinson. The thought makes me so sad and I am terrified.

I am loud, opinionated, vivacious, vocal and spirited. The thought of not being able to communicate and not being able to sit, stand, walk and hug is not something I want to contemplate.

Mr Bouche and I have spoke about my fears many times. He knows, that I do not want to be like my Dad or Nan was. I pray the law changes, so if I do develop HD, I can decide I want no more and die before the disease takes me to an undignified place. Where my family are scared to see me, when I cannot hug my children or grandchildren, when I cannot show Mr Bouche that I love him and when I am just a feint shadow of myself.

The sadness that Tony Nicklinson showed when he lost his battle against the courts speaks volumes. How tragic that he had to starve himself to death in order to die with some kind of dignity and peace.

I don’t expect everyone to agree with my views but surely a human being should be able to end their pain and misery if they should wish.

R.I.P Tony. I hope you have found peace now.

Bouche x x x

HD awareness week 2012

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This week is Huntington’s disease awareness week. As someone who has been hugely effected by this horrid disease, I feel it is only right that I try and spread a little awareness through my blog. For those of you who are not aware, my father has Huntington’s disease, my Nanny had huntington’s disease before she passed away and I have a 50:50 chance of inheriting the disease.

Huntington’s disease, which is often called HD, is an hereditary disorder of the central nervous system. It used to be known as Huntington’s Chorea or HC. Huntington’s disease usually develops in adulthood and can cause a very wide range of symptoms. The disease affects both men and women and is hereditary. An effected person has 50:50 chance of passing it on to their children.

A person with HD will lose their memory, lose their faculties, lose the ability to communicate and eventually need round the clock care like my father.

The Huntington’s disease association is a charity which provides much needed support and information to suffers of HD, their families and their carers. It is a fantastic charity who have provided my father, my family and I a great deal of support over the years. If you feel you would like to donate a small amount of money to a worthwhile cause, it would be greatly appreciated. Although, this post is not to ask for money but to spread awareness.

If you would care to take the time, please take a look at the Huntington’s disease association’s website to find out more about HD and the wonderful work that The HDA do.

Further information about HD can also be found here found here http://hda.org.uk/download/fact-sheets/HD-About-The-HDA.pdf

Many thanks

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

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

Dear Daddy

This is my open letter to my Daddy…

Dear Daddy,

We have been through so much together and I wanted to write you this letter for father’s day.

I am sorry that you are the way you are now. I miss the old you but I am grateful for the memories I have of you, when you were well. I am blessed, as little brother was only 4 when you were diagnosed and I know his memories of you being well are limited.

I want to thank you for being a fabulous Daddy, who worked hard to give us everything you could. You worked so hard that you never took holiday and thus we never went abroad together. However, you made up for that in other ways.

My earliest memory of you and I, was when you took me to Hastings beach with Grandma and you took me into the sea. I was only 3 and a wave came in and swept me under. You  held my hand and when I emerged from the water I said ‘That was fun Daddy, can we do that again’. You taught to swim and even though you worked so hard you took me swimming every sunday to practise. You taught me to not be scared and I became a strong swimmer.

When I was 9, I decided I wanted to join the local judo club. I remember you taking me to buy my suit. They offered us a second-hand one. You said ‘no, my fanny ann will be having a brand new one’. That was typical of you, You always made sure that I had the best of everything.

You may have been working so hard that you didn’t make my nativity or the school plays, but you bought Mummy a video camera so you could watch. You always seemed proud. I remember being 10 and being in the school choir. We were invited to join the Kent music school and we recorded christmas songs for Radio Kent, and eventually sang at the Albert Hall. You were so proud. You had a recording and made duplicates to send to all the family. I remember that you had a copy in your car and played it on your way to work.

It was around this time that the signs of the Huntington’s started to surface. I remember you taking us to Chessington and Mummy was scared to go on the rides. You came on everything with me. We had such a fantastic day but you tripped and fell. You hit your head and it was bleeding. I also remember the Ramsgate carnival when little brother was about 6 weeks old. You cradled him in your arms all day. You were such a show off! You fell that day too, by the model village. None of us had any idea of what was to come a few years later.

You were such a strong man, a man’s man, who loved his Aston Martin’s and motor racing. But, you always made time to take us out for sunday lunch (every week), supported every hobby we had, whether it was Judo, motocross (yes I was a tomboy), dancing, gymnastics or swimming. You would always play fuzzy felt and sindy’s with me. When I was a toddler I always got up at 5.30 just so I could brush your false teeth (ergh!) because I idolised you. You always made room for me to snooze on the sofa with you when I was little.

Thank you for the wonderful memories that I have. These memories are cherished by me. I wish we had, had more time when you was well together. I miss my old Daddy and I am so desperately sad for the HD taking over.

I wish Mr Bouche had known you when you were well. I feel he really missed out. However, you may not be able to say it but I know you approve of Mr Bouche by the look in your eyes and the tears at our wedding. He is a fantastic father and he will make a fantastic father to any children we have, just like you.

I love you and I cherish all the memories.

With love forever

Your Fanny Ann (aka Bouche) x x x