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

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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

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