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Testing, or at risk Discuss testing for Huntington’s disease, and living with the risk of HD

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Old 26-07-15, 03:33 AM   #1
drummer4261900
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Default I think kinda of confused it says:

Just found out I have it I think kinda of confused it says:

"The patient carries alleles with 50 and 18 CAG repeats. The allele with the 50 repeats is fully pentrant, effected size range. Therefore, the patient is predicted to be affected with HD. If the patient is currently asymptomatic, the patient is predicted to be affected with HD in the future."

That means possessive for sure correct?
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Old 26-07-15, 08:59 AM   #2
shiraz
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Default Re: I think kinda of confused it says:

Hi Drummer

Sadly I think it does mean you are positive. Allan is really knowledgeable on alleles and such matters....and I'm sure he'll be able to enlighten you - and us all. So sorry but it's the 50 that jumps out at me. We were just given one number here not two, so I find that confusing. But yes, it's a +hd result.
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Old 26-07-15, 02:00 PM   #3
Allan
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Default Re: I think kinda of confused it says:

.
Hi Drummer

Well, that was quick and without “feeling” from the clinic. Have you spoken to your doctor about the results yet? In a way I suppose it was better without counselling and you now have the bare scientific facts in front of you. Although the indications are that you will develop the symptoms of HD they might not be the same symptoms that affected your mother. You might, in fact, lead a non-symptomatic life for decades to come. We all hope that is the case and you are now going to live your life to the best of your abilities.

Here’s the scientific stuff:
An allele is one of two versions of a gene. We inherit two alleles for each gene, one from each parent. If the two alleles are the same, the individual is homozygous for that gene. If the alleles are different, the individual is heterozygous. So, an allele is one of a pair of genes that appear at a particular location on a particular chromosome and control the same characteristic.

The mutation that causes HD is called the ‘huntingtin’ gene, and is abbreviated as ‘HTT’ or ‘HD’ or ‘IT15’. Everyone with HD has the same basic type of mutation. It is an expansion of a normal repetitive piece of DNA on chromosome number 4. Chromosomes are the long pieces of DNA which are chains of millions of ‘bases’.

Near the beginning of everyone’s huntingtin gene is a repetitive stretch of three letters - CAG. In people without HD, these three bases are repeated fewer than 35 times - usually about 17 times. People with 36 or greater repeats of CAG will develop HD if they live long enough.

Your genetic test has shown that you have inherited the faulty gene, but doesn’t indicate the age at which the disease will begin to show symptoms: the CAG 50 being from your mother and CAG 18 from your father.

www.nature.com/nrneurol/journal/v9/n8/fig_tab/nrneurol.2013.128_F1.html

It seems to be very hard and factual but now that it’s done - it’s done.

Best wishes

.
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Old 26-07-15, 03:28 PM   #4
Stuart
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Default Re: I think kinda of confused it says:

Hi Drummer,

I'm sorry to hear that your result is positive for HD. You've been brave to take this test and it's good that now you know what you may be facing. As Allan said nothing is certain and it may be different for you than it was for your mom.
There seems to be no local HD resources for you in Dayton but the people on this board are here for you and if you contact some of the HD social workers in other cities in Ohio perhaps they will know some people you could meet in person who are nearer to you if you want.

All the best,
Stuart
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Old 26-07-15, 11:50 PM   #5
toosh
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Default Re: I think kinda of confused it says:

Quote:
Originally Posted by drummer4261900 View Post
Just found out I have it I think kinda of confused it says:

"The patient carries alleles with 50 and 18 CAG repeats. The allele with the 50 repeats is fully pentrant, effected size range. Therefore, the patient is predicted to be affected with HD. If the patient is currently asymptomatic, the patient is predicted to be affected with HD in the future."

That means possessive for sure correct?
Hi Drummer
So sorry to hear your result is positive but as others have said at least you now know what you are dealing with. I hope you have some support in the way of family, friends and professionals because the time following confirmation is a roller coaster of emotions. Don'-t forget you have your friends here for support. Just want to give you a virtual hug right now
Toosh
Xxxxxxx
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Old 27-07-15, 12:53 AM   #6
shiraz
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Default Re: I think kinda of confused it says:

Hi Drummer

It's me again...I'm afraid I kind of chickened out of being the one to say for sure that yeah that means a positive hd result. I think I'm right in saying that from your past posts you pretty much felt that you knew you were +hd and just wanted definition. Now you have had this result you must use it as an empowerment, a starting point from which to go forward and do stuff you'd really like and live, love and laugh, explore and have fun and make plans and choices that you enjoy.

Just coz you have hd doesn't mean that you have no future or nothing to look forward to. Live for today - forget about the past and don't worry about the future - who knows what will happen....to any of us...as in I could get knocked down by a runaway bus, blown up by a terrorist, wiped out by a freak tsunami or tornado, poisoned by lunatic...the only thing any of us is guaranteed in life is death. Think about it, it is true. It is what you do in between that counts.

This confirmation must be so hard but you need to somehow turn it round into a good thing. You are still the same person as you have been from the day you were born. If I were you I'd find someone in a similar situation to talk things through with. I really feel for you but please...take care x
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Old 27-07-15, 04:44 AM   #7
Stuart
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Default Re: I think kinda of confused it says:

Hi again Drummer,

I’ve been thinking of you all day and needed to write to you again to tell you that you are not alone. There are many people here who are struggling with HD and although we can’t be there with you in person we are very much with you in spirit.
Please keep writing here to let us know how you are doing and ask all the questions you like.

Best wishes and kindest regards to you,

Stuart
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Old 27-07-15, 06:41 AM   #8
banda
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Default Re: I think kinda of confused it says:

Hi...sorry to read your post but couldn't agree more with the other posts. I care for my hubby who is hd+....he is 64 now and we are still enjoying many activities and outings and meals. Live life to the full .... and use this mb ... a great forum for support, help and virtual friends all in the same boat! Take care.
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Old 27-07-15, 08:50 PM   #9
Dolphin
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Default Re: I think kinda of confused it says:

Hi

Sorry to hear about your positive result. I found when I got mine that my thoughts were all over the place.

I didn't know about this message board then, but it would have been good to know I was not alone.

Dolphin
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Old 27-07-15, 11:14 PM   #10
Cupcake
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Default Re: I think kinda of confused it says:

Hi

Sorry to read your news, a big blow to you. Take time to absorb the information, talk to friends, family and us about your hopes, dreams and fears, one day at a time, and as the others have said live life to the full.

Take care xxxx
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