Let me start off by saying that I am a 28 year old male who found out a year ago that HD ran in our family. No one except our grandparents knew there was a chance of it being in the gene pool. My mother has tested positive and has no symptoms. My uncle has also tested. No one is sharing their results with other members of the family except those in their immediate family.

My mother was tested and went through counseling at a level 5 (or whatever highest lvl of HD centers/hospitals there are) center. My mom tested low on the range--close to 40. When my parents told us that my mom was HD positive, they also stated that the testing center said that females cannot pass a higher number to their children. They also stated that HD positive children of afflicted mothers typically have numbers at or less than their mother, that their symptoms are at or less severe than their mothers, and that they typically present themselves at the same time in life as their mother.

My father 100% does NOT carry the mutated HD gene, just FYI.

While this makes me feel slightly better because my grandma had later onset, I am concerned as I have not found any real literature on this being the case. I'm beginning to question whether they made this up to make us feel better. I did see hard copy test results so I know they aren't lying about my mother or grandmother's numbers (who were within 1 pt of each other).

If you have any insight please let me know. I'm thinking about starting genetic counseling.

Thanks.

That isn't true. The number can go up or down. It can contract, but it is more likely to expand.

So this is false?

[www.sharonlbegley.com]

"OR AT LEAST NAIVE. SINGLE-GENE illnesses--sickle-cell disease is the most common--account for an underwhelming 2 percent of total diseases. And not even these genes stick to the rule book. One on chromosome 4, if mutated, causes Huntington's disease, the neurological crippler whose most famous victim is folk singer Woody Guthrie. The healthy gene starts with a stutter: up to 34 repetitions of three chemicals. in the diseased gene, the stutter is downright pathological, growing 42 to 100 repeats as it passes from parent to child. The more repeats, the earlier Huntington's strikes and the worse it is. just a few years ago the notion of a gene growing with the generations would have been laughed out of the lab. But wait, it gets worse. The stutter grows faster in cells that become sperm than in those that become eggs. If the gene passes from fathers to sons, within three generations the stutter becomes so long that Huntington's may strike at the age of 20. The same gene passed through women produces later, less severe Huntington's. Mama's genes stutter less."

That's not a rule. It's a general trend.

Even though I hear it said often that when you inherit HD from your dad the numbers tend to increase, there are also several stories out there of Mother's with HD having kids with JHD. It can go either way. I have found, as well as others that many doctors really don't know that much about HD. My husbands neurologist at our HD clinic told me that PHD,s do not tend to become abusive to their family, WRONG!!!

It happens occasionally, for a number to contract, but only occasionally. From a mother, can stay the same or get larger. From a father, it can stay the same, but is more likely to expand, and expand a lot.

Yes, Judy is right, jhd is more likely to come from the father, but does come from mother's as well.

I shouldn't have asked the question.

Why not?

I definitely did not like the answer. I don't get why my parents would lie about something like that when they themselves are upset at my mom's parents for keeping it a secret, and I do not believe a neurologist at one of the best HD centers in the country would either.

hmmm, i wouldnt say they lied. I would say that maybe that is how they perceive what was said to them. I know what we're saying is a harsher reality than what your parents said, sorry it's worse what we're saying, but i don't think your parents are lying, i think this is probably what they think.

"That isn't true. The number can go up or down. It can contract, but it is more likely to expand. "

If it's more likely to expand then I would assume that the disease would have wiped itself out by now causing afflicted offspring to die at a younger and younger age until they were not able to reproduce and pass it on.

No because new families get it all the time. People in a normal range, over a few generations, can expand into hd range. There can be spontaneous expansions where there is no previous family history. Yes, i used to wonder exactly what you just said.



Edited 1 time(s). Last edit at 07/30/2011 02:50AM by Barb.

Your parents probably didn't lie. HD is often misunderstood. There is a lot of conflicting information out there. Even though my husband is the one with HD I try not to think about the worst care scenario because it varies so much from person to person, even within the same family. Many doctors don't really know the right answers. You have to take everything with a grain of salt. Even people with the same number of repeats don't always develop HD at the same age.

Welcome to HDLF. I am sorry for the reason that you are here but glad you found us because I think we have a lot to offer in the form of support and information. I consider us all to be extended family here and there's always room for one more.

Here is the most recent data on CAG instability. When the gene is transmitted from the mother, the count is equally likely to contract, increase, or stay the same. All are possibilities. Now, if you look at the data, you see that averaged out numerically there is no change. That is, if you take a group of say 100 women with the HD gene who have passed it on, add up all their counts and divide them by 100 and then do the same for their offspring, the average CAG count will be virtually the same for the mothers and the children. Now that might lead someone to say that the counts don't change when transmitted from women BUT that would be WRONG because two thirds of the time they DO change -- it's just that the change averages itself out. This is why it's important to look carefully at published studies and look at ALL the data.

[www.hdlf.org]

Also, you may be interested in this article as well. It explains how normal but unstable genes in a family can eventually expand to the disease range. It is estimated that about 8-10 percent of patients are the first in their family to develop the disease due to an expansion. As Barb said, this is why HD hasn't wiped itself out.

[www.hdlf.org]

Marsha (posting on Steve's computer from our beach home).



Edited 1 time(s). Last edit at 07/30/2011 06:38AM by SteveI.

I do not know my ex boyfriends cag or his mothers who he got HD off.

What I do know is that his mum became symptomatic in her early 30's and died at 46.My ex partner started with early onset in his early 20's and died aged 35.He went on to have a JHD daughter,my daughter who has been symtomatic since aged 9,she is now 18.

Onset seems to have jumped back in the last 3 geneations by 10 years or so each time,whether from male or female.

Anonymous6891 Wrote:
-------------------------------------------------------
> So this is false?
>
> [www.sharonlbegley.com]
> y
>
> "OR AT LEAST NAIVE. SINGLE-GENE
> illnesses--sickle-cell disease is the most
> common--account for an underwhelming 2 percent of
> total diseases. And not even these genes stick to
> the rule book. One on chromosome 4, if mutated,
> causes Huntington's disease, the neurological
> crippler whose most famous victim is folk singer
> Woody Guthrie. The healthy gene starts with a
> stutter: up to 34 repetitions of three chemicals.
> in the diseased gene, the stutter is downright
> pathological, growing 42 to 100 repeats as it
> passes from parent to child. The more repeats, the
> earlier Huntington's strikes and the worse it is.
> just a few years ago the notion of a gene growing
> with the generations would have been laughed out
> of the lab. But wait, it gets worse. The stutter
> grows faster in cells that become sperm than in
> those that become eggs. If the gene passes from
> fathers to sons, within three generations the
> stutter becomes so long that Huntington's may
> strike at the age of 20. The same gene passed
> through women produces later, less severe
> Huntington's. Mama's genes stutter less."


This is terrible info by the way - so overblown and exaggerated.

Your parents weren't lying. The trouble with HD/CAG repeats is that nothing is certain, it may be a general trend but it doesn't happen that way for everyone. However, with your mother having a 40 CAG repeat, and late onset for your grandparent, the chances are decent that she will reach a very old age, as will you. Try not to worry so much, and definitely don't read stuff such as that quoted above.

Matt.

[www.hdyo.org]