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Old 13-08-18, 11:26 PM   #1
TheRoyalDoyle
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Default New Diagnoses/New Member

Hello all, my name is Chris. I’d like to thank all of you for being here and I hope that speaking with some of you can help me through my new diagnoses.

My mother passed from HD about 7 years ago, and I hadn’t thought much about it until I hit 30. I started to realize that my time was running out if I was positive, so I decided to see... I tested positive 3 weeks ago with 38 repeats, and life since then has been rather difficult to live. I am currently showing no symptoms, but I know it’s only a matter of time.

Having lived with my mother through the disease, I’m terrified.

I had a question for those of you that have been through this before, and I was hoping to get some advice, or input.

Currently my wife of 7 years and I are not talking. She was aware of the HD potential before we got serious, but since the diagnoses we have been distant. There were issues in the marriage before the diagnoses, and now they seem impossible to overcome. I don’t know how I manage the relational issues while trying to process the HD. There are some serious trust issues, and I find that they are playing a role in this. I’m afraid I may not be able to rely on her through the toughest parts of HD.

Chris
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Old 15-08-18, 12:26 AM   #2
elessi
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Default Re: New Diagnoses/New Member

just because you tested positive doesnt mean you will get it soon. my hubby tested 3 years ago with 42, he is symptomatic but he already was when he got tested. it started about 5 years ago, moodswings fits of temper and clingyness, paranoia about visiting new places. the thing is he was 59 when he got tested, you have a whole life ahead of you dont let HD take it over. do what you can while you can then in 30 years you will have memories of things you enjoyed. the good things carry you through the bad days. hubby has issues but we have young kids and enjoy what we can together
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Old 15-08-18, 07:46 AM   #3
TheRoyalDoyle
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Default Re: New Diagnoses/New Member

Thank you for your kind encouragement. It’s dofficult to cope with the diagnoses let alone the thought of symptoms. I hope it ends eventually.
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Old 15-08-18, 11:16 AM   #4
Gabby
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Default Re: New Diagnoses/New Member

Quote:
Originally Posted by TheRoyalDoyle View Post
Hello all, my name is Chris. I’d like to thank all of you for being here and I hope that speaking with some of you can help me through my new diagnoses.

My mother passed from HD about 7 years ago, and I hadn’t thought much about it until I hit 30. I started to realize that my time was running out if I was positive, so I decided to see... I tested positive 3 weeks ago with 38 repeats, and life since then has been rather difficult to live. I am currently showing no symptoms, but I know it’s only a matter of time.

Having lived with my mother through the disease, I’m terrified.

I had a question for those of you that have been through this before, and I was hoping to get some advice, or input.

Currently my wife of 7 years and I are not talking. She was aware of the HD potential before we got serious, but since the diagnoses we have been distant. There were issues in the marriage before the diagnoses, and now they seem impossible to overcome. I don’t know how I manage the relational issues while trying to process the HD. There are some serious trust issues, and I find that they are playing a role in this. I’m afraid I may not be able to rely on her through the toughest parts of HD.

Chris
you are in the grey area please see link below
https://en.hdbuzz.net/027
your test result is not conclusive one way or the other you will get symptoms . but even if you do it could be a long way off try to enjoy your time and dont' worry about what if's ,take each day. If you want to be with your wife then try and make it work if not move on life is too short . I said i would support my hubbie to the point i couldn't as noone know what they can or cant deal with until it happens . xx

If the grey area bit does not seem right Speak to you genetic clinic / gp again to clarify your result .


Take care
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Old 15-08-18, 03:15 PM   #5
TheRoyalDoyle
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Default Re: New Diagnoses/New Member

Yeah, I am in the Gray area. That was confirmed a few times, but the advice is to live as if the symptoms will show, and hope they don’t. I really am trying to life my life as happily as I can, my wife and I are going to try a separation...
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Old 15-08-18, 04:24 PM   #6
Allan
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Default Re: New Diagnoses/New Member

.
Hi Chris

First question from your given info: 30 years old and married 7 years. Do you have any children?

Secondly, I disagree with Gabby about your test result: a CAG repeat count of 38 places you in the “reduced penetrance” range. That’s a definite …

Individuals affected with HD have 36 or more CAG repeats, however 36–39 repeats confer reduced penetrance. Individuals with a reduced penetrance allele typically have a later age of onset and slower progression of the disease, with some individuals never developing clinical manifestations.”

… So, there’s a chance that you might never develop any clinical symptoms.

HD alleles with reduced penetrance are defined as alleles with 36 to 39 CAG repeats. Repeat sizes in this range are often referred to as being in the reduced penetrance range. Alleles in this size range are meiotically unstable and are associated with the HD phenotype in both clinically and neuropathologically documented cases. However, in rare cases, alleles in this range have been found in elderly asymptomatic individuals.”

... So, once again, elderly and showing no symptoms.


I regularly go over the top when I reply to topics in this area as I have a CAG 35 repeat count in the supposedly intermediate, unaffected range. As a contributor says in the first web-link:

Where I sit with thirty-five [CAG repeat], while it’s okay for me, the grey area comes in for future generations and what’s going to happen to them. It’s not clear what the future holds for my future generations, it’s extremely grey.”

In my family it turned out much worse than extremely grey as my son was diagnosed at age 25 with a CAG repeat count of 56. He is, of course, symptomatic.

So, the articles linked below indicate that there can be hope for individuals with your reduced penetrance CAG repeat count of 38. You won’t want to read everything listed below (you might not want to read any!) but I always introduce relevant stuff on most topics as there will be onlookers\viewers\readers who have the need to learn more about the possible impact of a lower CAG repeat count and its implications for a long life - including the harmonizing of relationships.

Best wishes …

  1. “Grasping the Grey”: Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease [download here]
  2. Recommendations for the predictive genetic test in Huntington’s disease
  3. Family history and DNA analysis in patients with suspected Huntington’s disease
  4. Huntington’s Disease Genetics
  5. DE NOVO HUNTINGTON DISEASE CAUSED BY 26–44 CAG REPEAT EXPANSION ON A LOW-RISK HAPLOTYPE
  6. Reduced penetrance of the Huntington’s disease mutation [download pdf here]
  7. New problems in testing for Huntington’s disease: the issue of intermediate and reduced penetrance alleles
  8. Technical Standards and Guidelines for Huntington Disease Testing
  9. Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
  10. EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease
  11. Paradox of a better test for Huntington’s disease
  12. HDSA - GENETIC TESTING PROTOCOL FOR HUNTINGTON’S DISEASE
  13. Repeat Instability in the 27–39 CAG Range of the HD Gene in the Venezuelan Kindreds: Counseling Implications
  14. When They Hear What We Say: Ethical Challenges in Presenting Research Findings to the Huntington Disease Community [download here]


.
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Old 15-08-18, 05:05 PM   #7
Gabby
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Default Re: New Diagnoses/New Member

Quote:
Originally Posted by Allan View Post
.
Hi Chris

First question from your given info: 30 years old and married 7 years. Do you have any children?

Secondly, I disagree with Gabby about your test result: a CAG repeat count of 38 places you in the “reduced penetrance” range. That’s a definite …

Individuals affected with HD have 36 or more CAG repeats, however 36–39 repeats confer reduced penetrance. Individuals with a reduced penetrance allele typically have a later age of onset and slower progression of the disease, with some individuals never developing clinical manifestations.”

… So, there’s a chance that you might never develop any clinical symptoms.

HD alleles with reduced penetrance are defined as alleles with 36 to 39 CAG repeats. Repeat sizes in this range are often referred to as being in the reduced penetrance range. Alleles in this size range are meiotically unstable and are associated with the HD phenotype in both clinically and neuropathologically documented cases. However, in rare cases, alleles in this range have been found in elderly asymptomatic individuals.”

... So, once again, elderly and showing no symptoms.


I regularly go over the top when I reply to topics in this area as I have a CAG 35 repeat count in the supposedly intermediate, unaffected range. As a contributor says in the first web-link:

Where I sit with thirty-five [CAG repeat], while it’s okay for me, the grey area comes in for future generations and what’s going to happen to them. It’s not clear what the future holds for my future generations, it’s extremely grey.”

In my family it turned out much worse than extremely grey as my son was diagnosed at age 25 with a CAG repeat count of 56. He is, of course, symptomatic.

So, the articles linked below indicate that there can be hope for individuals with your reduced penetrance CAG repeat count of 38. You won’t want to read everything listed below (you might not want to read any!) but I always introduce relevant stuff on most topics as there will be onlookers\viewers\readers who have the need to learn more about the possible impact of a lower CAG repeat count and its implications for a long life - including the harmonizing of relationships.

Best wishes …

  1. “Grasping the Grey”: Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease [download here]
  2. Recommendations for the predictive genetic test in Huntington’s disease
  3. Family history and DNA analysis in patients with suspected Huntington’s disease
  4. Huntington’s Disease Genetics
  5. DE NOVO HUNTINGTON DISEASE CAUSED BY 26–44 CAG REPEAT EXPANSION ON A LOW-RISK HAPLOTYPE
  6. Reduced penetrance of the Huntington’s disease mutation [download pdf here]
  7. New problems in testing for Huntington’s disease: the issue of intermediate and reduced penetrance alleles
  8. Technical Standards and Guidelines for Huntington Disease Testing
  9. Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
  10. EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease
  11. Paradox of a better test for Huntington’s disease
  12. HDSA - GENETIC TESTING PROTOCOL FOR HUNTINGTON’S DISEASE
  13. Repeat Instability in the 27–39 CAG Range of the HD Gene in the Venezuelan Kindreds: Counseling Implications
  14. When They Hear What We Say: Ethical Challenges in Presenting Research Findings to the Huntington Disease Community [download here]


.
sorry I think we said the same as such so not sure why you disagree .. but thanks for clarifying . I may not have explained it correctly . It's not as straight forward as a CAG of over 40 .


Gabby x
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Old 15-08-18, 09:10 PM   #8
Allan
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Default Re: New Diagnoses/New Member

.
Hi G

I think I must have interpreted this incorrectly:

your test result is not conclusive one way or the other you will get symptoms .

I took it to read:

Your test result is not conclusive. One way or the other you will get symptoms .

I suppose it could also read:

Your test result is not conclusive one way or the other. You will get symptoms .

Chris could, possibly, get to a ripe old age without having displayed any symptoms, especially if he keeps fit and healthy in mind and body.

I’m in 0.4% (or thereabouts) of the UK population with a 35 (on the cusp\crossover) CAG count - so, although there's no known relationship between 35 and 38, he’s got a higher chance than that of remaining stable. I, personally, don’t see CAG repeat counts as being precisely accurate in their determination of onset of the disease or its many symptoms for each individual. It's not that the goalposts move - just that more or less "goals" can be scored individually.

.
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Old 15-08-18, 10:47 PM   #9
Allan
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Default Re: New Diagnoses/New Member

.
Hi Chris

I’ve just come across these unrelated comments from two contributors on an HD forum:

My CAG is 39, symptomatic at age 44. My dad was CAG 39 also, and didn't get symptoms until after me, in his mid-70's. I am 61 now and doing so well, my doctors are stunned, I have hardly no symptoms now, compared to when I was first diagnosed. Mostly, I took packaged foods (ie food chemicals) out of my life.

CAG 36 = 25%. CAG 37 = 50%. CAG 38 = 75%. CAG 39 = 90% chance of getting it. CAG 40+ means that you will get it at some stage in your lifetime. I have a CAG 40 gene positive. My older brother has been sympathetic for the past 5 years, his CAG is 44.

There are many other examples of healthy lives changing those percentages above, although I’m not certain that those given percentages can be 100% correct - everyone’s different.

.
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Old 16-08-18, 10:36 AM   #10
Gabby
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Default Re: New Diagnoses/New Member

Quote:
Originally Posted by Allan View Post
.
Hi G

I think I must have interpreted this incorrectly:

your test result is not conclusive one way or the other you will get symptoms .

I took it to read:

Your test result is not conclusive. One way or the other you will get symptoms .

I suppose it could also read:

Your test result is not conclusive one way or the













other. You will get symptoms .


Chris could, possibly, get to a ripe old age without having displayed any symptoms, especially if he keeps fit and healthy in mind and body.

I’m in 0.4% (or thereabouts) of the UK population with a 35 (on the cusp\crossover) CAG count - so, although there's no known relationship between 35 and 38, he’s got a higher chance than that of remaining stable. I, personally, don’t see CAG repeat counts as being precisely accurate in their determination of onset of the disease or its many symptoms for each individual. It's not that the goalposts move - just that more or less "goals" can be scored individually.

.
you explanation as always is much more concise and clear . I did just mean it wouldn't necessarily mean he would show symptoms . Ie its not as clear cut as my hubbie with a CAG of 43 who is now showing symptoms and has been for 4 years at 44 .
thanks
Allan x
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