I’m Back… Sort Of
Let me start this by thanking everyone who’s left a comment, emailed me or called me. All the kind words and support I’ve received have truly helped me through the last few days.
I guess I’m writing this for two reasons. Firstly, almost everybody I’ve spoken to in the last 48 hours has asked the same set of questions - so I thought it might be wise to answer them all in a single place, which should hopefully give everybody who reads this a bit more context on what’s been happening. Secondly, I’m also hoping that this article might prove useful to those who find my site while searching for information on Huntington’s.
I guess my brain is still a bit raw after Friday, but I’m beginning to feel like I’m slowly getting a grip on the situation. I fully intend to move on with my life - although perhaps at a slightly slower pace.
What happened on Friday then?
I found out that I have the gene that leads to Huntington’s Disease. I have a CAG Repeat of 44.
What’s Huntington’s Disease?
It’s a genetic disease with no known cure. It attacks the central nervous system, causing uncontrolled movements, loss of intellectual abilities, and emotional disturbance. The eventual outcome is death.
In addition to the 35,000 Americans who currently have the disease, there are an additional 150,000 who carry the gene and will eventually develop the disease.
The processes that cause HD begin many years before there are recognizable symptoms. While the age of onset and rate of disease progression vary, early symptoms of Huntington’s disease include mood swings, depression, irritability and cognitive impairment. As the disease progresses, concentration on intellectual tasks becomes increasingly difficult and the patient may have difficulty swallowing. Symptoms of Huntington’s disease typically become noticeable in the mid 30s to mid 40s, with the life expectancy ranging from 10 to 25 years after the onset.
Shit. So what does that mean for you?
Well, I’m not currently exhibiting any symptoms of the disease - but a CAG Repeat of 44 means that I will probably develop fully-blown Huntington’s Disease between the ages of 40 and 43. However, that rule does only apply to half of the people with the gene - but I will certainly get it at some point in my lifetime.
The onset of symptoms could potentially start next week, with me having the full disease in 5 years. Alternatively, I may not start being symptomatic for 10 years - with it taking a further 10 for the full disease. It’s really, really stupidly vague.
But there are treatments, right?
Not yet. Some of the early symptoms (like the depression and jumpy movements) can be helped with existing medicine - but at this time there is no commercially available treatment to prevent the deterioration of brain functions or other later symptoms.
However… There is some very exciting research taking place at the moment, with a lot of money being poured into development. For example, one treatment (HD-02) has been highly successful during early trials on mice, and is expected to enter Phase III trials (i.e. human testing) during 2008.
I don’t want to get into the whole ‘animal rights’ debate at the moment - before anyone decides to raise the point!
Isn’t there anything that can help you now?
It would seem so. Abi has spent every spare moment since Friday researching the subject, and she’s come up with a few things that may help to delay the onset of symptoms. These include a number of herbal pills: Green Tea Extract (removes Iron build-up from cells in the brain), EPA/Fish Oil (protects neurons in the brain), Vitamin E (helps the absorption of the EPA, and also acts as an anti-oxidant) and Creatine Monohydrate (increases levels of oxygen in the brain).
Daily exercise also seems to help, as does Caffeine and Nicotine - which protect neurons in the brain, and which I fortunately already consume in vast quantities! There’s also a whole load of other beneficial foods, including Blueberries.
It would also seem that simple things like keeping the brain active, laughter, and social interaction all play a part in slowing down the onset of symptoms.
So how do you feel?
You really want to know..? Well, I’m currently experiencing a Jekyll & Hyde thing.
One minute I feel like crap… I get a gnawing feeling deep inside me, telling me that I’m not going to see my daughters get married, or that I’m going to die slowly and painfully - robbed of all my dignity. This leaves me feeling sick, dizzy, and shaky.
Then I’ll suddenly brighten up, feeling like a weight’s been lifted from my shoulders. I think about all the scientists who’ve made it their only concern to develop a treatment, and how Abi will do (and is doing) everything she possibly can to help me get through this. Interestingly enough, this leaves me sick and dizzy too - but with hope rather than despair!
I’m starting (slowly) to see the positive moments outweighing the negative ones though - so I guess that I’m gradualy getting back on the right track, even if the train’s going to be delayed for a little while…
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When I was told I got HCV back in 1990? and it would be useless for me to buy tickets for that big fireworks display on New Year’s Eve 2000 - which proved wrong - I got drunk, really drunk. Obvious reaction - hey, it’s an inflammation of the liver!
Science has ways of pleasantly surprising us, occassionally.
I did think about alcohol, but I haven’t been a serious drinker for a number of years (since I started DJing actually) and these days it only takes a single glass of wine to knock me out…
Hi Paul,
It is difficult to know what to say, I can’t even imagine how you must be feeling. I am pleased you and your family are being positive and looking into ways you can try and keep the disease at bay. I wish you all the best.
Thanks Tara…
I’m not sure how well I’d be doing without the support of my fantastic family and friends, but I’m glad I won’t need to find that out!
I’m glad you’re back, even if it’s only “sort of.” Many of those things you described - mood swings, depression, irritability - may help you better cope with and understand the women in your life during PMS! Sorry, I just had to point that out.
I’ve been praying for you all weekend, that you would feel truly loved and treasured by your family and friends. I am so happy to hear how everyone is rallying around you. I hope it’s been encouraging. And what a wonderful wife you have! It seems to me that the remedies to stave off the onset of HD will not be too difficult to adhere to, you’ll just need to make sure to spend more quality time laughing and learning with those you love! That’s not so bad!
You’re right about the fast-track course in PMS symptoms! Not sure if I’ll understand woman any better though - but perhaps the mystery is a good thing!
I really am beginning to appreciate the lengths that my family and friends will go to, in order to support me. Encouraging is a good word.
I certainly don’t see spending more quality time, or the laughing and learning as being bad. In fact, I’ve already decided that the priority refocusing is going to be positive for everyone - including me!
Thank you…
It sounds like you have an overall positive attitude about this whole thing. Even if you are feeling down, I think you know this has brought about good things. Of course, the greatest distance is between your head and your heart, knowing something and believing it are two very different things! I think these circumstances will be the catalyst for you living a more satisfying and enjoyable life because you are determined to make the most of everything; that is miles (or kilometers) farther than most ever get. Thank you for allowing us to share this with you. You’ve given us the chance to learn a lot from you
I feel like this is certainly going to make me appreciate life more - it has to really! Whatever happens along the way, I guess I have the advantage of making decisions based on a little foresight…
I think sharing the last few days with an online community has actually helped me pull myself together. Maybe it’s the thought processes that take place when I’m typing something, but it always seems to clear my mind - if only temporarily!
Thanks for the update Paul. I’m sure it’s so difficult knowing that this WILL happen at some point in your life. Like you say, you have to appreciate the good things in life - your caring friends, you amazingly supportive wife, your great kids, the fact that smoking cigarettes is now good for you health - these are all worth appreciating.
LOL! Thanks Aaron… Yeah, I’m really starting to get used to this idea that smoking (and coffee) is actualy good for me! Wanna know something else that’s weird? Apparently, people with Huntington’s don’t get (or at least are highly unlikely to get) cancer.
There’s research going on at the moment to find out why. Wouldn’t it be ironic if something like the Huntongton’s gene led to a preventative treatment for cancer?
I commend you for sharing this with everyone. Many people would internalize it and that’s no help to anyone including your family and yourself. Your choice to write about it says a lot about your character.
Thankfully, we live in a wired world, so I’m sure being able to do some research online has helped ease some of your fears/frustration. From what I can tell, you have a positive outlook about this (most of the time?), and even though it’s been said before, that’s truly half of the battle. I lost my father to illness several years ago, and my mother is a breast cancer survivor - so I know how important support and attitude are. Sounds like you have both. Many blessings Paul.
You’d be surprised just how many times the phrase “google it” has been spoken in our house since Friday…
Thank you for your encouragement! I’m certainly trying to maintain a positive outlook on it - something that I think may get easier with the passing of a little more time.
Hi Paul, good to see you’re back! You’ll have and had a lot to deal with, it’s amazing to read how you and your family are coping with this! What I found really surprising to read is the coffee and nicotine bit, just out of curiosity: do you still have the link to that? [only if you feel like looking it up; you have more important things to think of at the moment!}.
The most important medicine is tender love and care
~ Mother Teresa
I believe that Abi originally found that info somewhere on the HDAC site: http://www.hdac.org
I’ve found an article about it protecting against the effects of Parkinsons Disease, which is quite similar to Huntington’s in a lot of ways. The diseases are different, but the concept is the same: http://www.sciencedaily.com/releases/2007/04/070409164849.htm
Mind over body. Your mental and emotional state will help you win the battle. Do what the good doctors said but it will be good to check out alternative medicines or therapy. Chinese acupucture was used more than 5000 years back but only recently it had received it’s dued recognition. Something good and useful might not be recognised by the medical bodies. I wish you all the best.
Thanks Vivienne…
I’ll certainly look into the acupuncture - we have admittedly focused on Western medicine so far!
Paul, like everyone else, it’s difficult to know what to say, and impossible to know how it must feel. I can imagine it would feel good to know there are SOME things you can do now, and to know that there are people working on ways to cure the disease. Most of us sail through life and never appreciate the blessings we have fully, and I can bet you’re fully appreciating every day with your family in a new way. Hopefully the onset of the disease will be so far off that a cure will be found well before it’s time to face it. Praying for you…
Thanks Randa. That’s the bottom line at the end of the day… What will come first - the symptoms or the treatment?
I just found out what you were going through lately (that’s when I realize I should be checking other blogs on a regular basis).
It’s hard to find the right words for situations like this. Just wanted to tell you that you should feel relieved that you are one of not so many lucky people who’s surrounded by true and loyal friends and loved ones who will do anything for you.
Thanks Charity…
I think the word I’d use is honoured, rather than relieved, but either way I know I’m lucky!
see, what happens? Now, my name is forgotten also… *Vivien, you do have to make an effort and appear on other blogs more often*
Yes, you’re right - the word “honoured” describes this feeling much better.
LOL! That’ll be the short-term memory loss kicking in then!
I got it right earlier… I did… LMAO!
Amie Favero…
Do you have some references? There’s a few articles on my site if you want to read them….