| T.R | Title | User | Personal
Name | Date | Lines |
|---|
| 213.1 | | DUGGAN::TARBET | | Wed Jun 20 1990 13:55 | 152 |
| The following response is from the basenote author.
=maggie
===================================================================
I am the anonymous author of reply 417.16 in V2.
I need to talk about this to someone and thought I would update my
status with testing.
I have just gotten back from Wichita Kansas where I underwent several
interviews by different kinds of doctors to determine if I fit the
criteria to have the Huntingtons DNA analysis done to determine if my
% of risk can be either raised (to 98 or 99%) or lowered (to 5% or
less).
I will describe each part of the process to the best of my ability.
Because I am over 700 miles away from the clinic I asked that they
attempt to schedule as many appointments in a short period of time as
possible. The Initial interview is with the "investigator" has you sign
two waivers that you understand that you are taking part in a research
project to find out what form of counseling and support system is
needed for the people undergoing the test in the future.One wavier is
general overall and the other is itemized and I had to initial each
item. One item is that they can refuse to test me if they determine
that knowing the results (if they show that I have HD) could cause
unusual hardship. I.E. If my marriage was headed down the tubes and I
was or had just lost my job or any other stressful stuff was going on
in my life they could opt to say that this is a pretty rough time to
take the test. Come back next year......later....etc.
I had a psychiatric evaluation. I had to fill out several personality
profiles two weeks before meeting the psychiatrist. They had them
evaluated and knew before I even showed my face that I symptoms of
depression. I have had chemical depression for 3 or 4 years. This is
one of the signs of Huntingtons. It can also be a sign for many other
illnesses and disorders. With tests we have ruled out Thyroid problems
and a few other things. I am already taking medication for depression
and see a psychiatrist locally (another requirement for long distance
testing is being under local psychiatric care). I went out and found my
psychiatrist specifically because I wanted to be tested and knew it was
a requirement.
Then psychiatric evaluation in Wichita takes place with a specific DR.
He asks about my home life and how I get along with my husband. etc.
At the end he says he does not have any reservation about me receiving
the results of the test should I be allowed to take it. He felt that I
had spent time thinking about the alternatives good and bad. He will
talk with the other doctors and they would get back with me.
The next interview I am scheduled with is with a gene doctor. His
primary function is to draw as detailed a "pedigree" of my family and
the affected members of it.
We went into details about my brothers and sisters, my children have
different fathers (this required the eraser one more time), My mother's
brothers and sisters who has it and who does not show symptoms at this
time, what are their birthdays who was born first..etc. Then I
mentioned infant deaths and that required more erasing as the infants
are put into the birth order. Who is married? How many children did
they have? What were their sexes? Have any of them married? Did they
have any children? What is the birth order and what are the sexes of
the children? Do any of the children or the children children show
signs of Huntingtons? Have any of them been diagnosed with Huntingtons?
They even made another slot for my miscarriage.
His other role is to make sure I understand that there are a few
glitches to their system. Explaining about the marker and it is only a
marker is not the gene even though it follows the gene closely there is
a 1% chance that the gene would not follow the marker and that you
could get a positive result and still be negative for the gene.
there is also the possibility that the test could be indecisive. This
can happen because the marker for the specific Gene is different for
different families. the marker will be in the same place on the DNA
strand but it will look different for each person and differs from
family to family.
Say HD follows the c marker in a family
aa bc
\ /
\ /
ac
This person gets the a from one parent and the c from the affected
parent If you know that the parent (bc) is affected and that c is the
marker(this is determined by previous testing of other family members
who are and are not affected) then you can be reasonable sure (99%) That
the child is affected and will(if he lives long enough) eventually
develop the symptoms of the disease.
Now if the parents have similar markers like the following example then
the test could be inconclusive for some or all of the children
depending on the markers the children inherit.
For this example we will make it a given that c has ready been determined
as the marker
ab bc <this person carries the gene >
\ |
\ /
gene > bc----|----bc
|
|
___________|___________
| | | |
| | | |
bb cc bc bc
The doctor explained that the child "bb" inherited the b marker from both
parents and b is not the marker that follows the gene in this
Huntingtons family so this child is 99% sure not to have inherited the
HD gene.
The child "cc" inherited a c from both his parents and the c is the
marker in this HD family. This child is 99% sure to have inherited the
HD gene along with the marker.
For both the children "bc" either or both could have gotten the
unaffected c marker from the non-HD parent and the b marker from the
HD parent and be free of the gene or either or both could have gotten
the affected marker from the HD side and the b from the unaffected
parent. In this case they will not be able to tell until the child
starts to develop symptoms or they actually find the gene through
research and then take the test over.
the last doctor I saw was the Neurologist who asked me outright if I
thought I had the disease. He did a thorough exam and determined that I
was not showing signs at this time. (another criteria of the
predictive testing).
Now I am waiting for them to call me and tell me whether or not they
will accept me into the program for testing. I guess that all the doctors
who saw me will get together and discuss various aspects of my various
appointments.
THE WAITING IS driving me NUTS!!!!
Its only been four days since I had my last appointment so I can't start
calling them.....Yet.
--Also At Risk
|
| 213.2 | keep us informed | ICS::WALKER | BIENVENU CHEZ MOI | Fri Jun 22 1990 17:13 | 7 |
| I know you'll keep us informed.
I'm really interested in this because I heard that a friend (also
female) had been diagnosed. I haven't seen her for 15 years or so. I
was told once that it was unusual for women to have HD. Do you know?
Briana
|
| 213.3 | HEARTS AND HUGS | POBOX::SCHWARTZINGE | I'd Rather Be Shopping | Fri Jun 22 1990 17:54 | 9 |
| I know this is going to sound terrible, asking and all that, but what
is Huntington's Disease?
Maggie, if prayers will help, you have mine. If I can do anything else
just contact me. When I needed Hugs I got them. Here's my HUG, you
will be in my thoughts and prayers!
Jackie
|
| 213.4 | It's Friday, Eyes not seeing well | POBOX::SCHWARTZINGE | I'd Rather Be Shopping | Fri Jun 22 1990 17:59 | 9 |
| I think I owe you an apology, Maggie, when I reread this I realized
that Also at Risk wrote the response.
It doesn't matter, My heart and HUGS go to Also at Risk Also, and I
will go to WN2 and find out what it is.
Jackie
|
| 213.5 | | RANGER::TARBET | Who's that galloping | Fri Jun 22 1990 20:29 | 4 |
| No need to apologise for warm wishes, Jackie, we all need'm one time or
another.
=maggie
|
| 213.7 | | DUGGAN::TARBET | | Mon Jun 25 1990 13:35 | 22 |
| The following response is from a member of our community who wishes to
remain anonymous at this time.
=maggie
------------------------------------------------------------------------
After reading the first two notes all I can do is offer a prayer of
thanks that I am not the writer, not to mention offering prayers _for_
you, the writer.
I'm certainly not writing you to let you know how sad I feel -- there
is another purpose!
Sometime in the past there was a very interesting British program
discussing this condition; I was wondering whether you had seen it.
It may give you a bit of hope if indeed the results are not what we
want for you. Is there more research being done in Britain that here
that you are aware of? I'm just wondering because I was aware of this
probably 15 years ago when one of the women's magazines (British) did
an article...
|
| 213.9 | H.D. ne St. V Dance | STAR::BECK | Paul Beck | Tue Jun 26 1990 13:53 | 4 |
| (Everybody should have a Concise Columbia Encyclopedia in their office.)
St. Vitus' dance is another name for Sydenham's chorea, which is usually a
complication of rheumatic fever. Different from Huntington's chorea.
|
| 213.10 | Perfect? | POBOX::SCHWARTZINGE | I'd Rather Be Shopping | Tue Jun 26 1990 13:57 | 22 |
| RE: .6
I am sorry, but my true feeling on this was that it was a very
insensitive note. No one is perfect, we don't all ALWAYS know what
disease we have or will have. Are we only going to create new human
beings that are perfect? Perfect in whose eyes? We are loving human
beings, we love when and while we can.
I not only love babies or children if they are perfect, I love them
for what they are or what they can become, even if some people believe
they can't become enough, what a sad world this would be if we only had
babies when we knew they would be perfect! Isn't that what Hitler was
trying to do...create a perfect race?
If Arlo doesn't want the test, I say it is up to him.
Jackie :-|
P.S. I apologize for this, but I saw red when I read .6
I think it is up to the person to decide whether to have the test or
not.
|
| 213.12 | ??? | POBOX::SCHWARTZINGE | I'd Rather Be Shopping | Tue Jun 26 1990 14:17 | 13 |
| I think the first paragraph or so of your note shows the insensitivity.
It's one thing to know what's going on and other to read all the
statistics. I can't really go into it here, it would show
insensitivity on my part.
But I do think that the rest of my reply shows the other part of the
insensitivity. Only perfect humans from now on?
Would be glad if you would write to me: POBOX::SCHWARTZINGE if you
still are unclear.
Jackie :-|
|
| 213.14 | | POBOX::SCHWARTZINGE | I'd Rather Be Shopping | Tue Jun 26 1990 15:44 | 7 |
| I wasn't trying to make you make it better. I just thought it was hard
and cold!
No need to change it on my account.
"j" :-{
|
| 213.15 | | DUGGAN::TARBET | | Thu Jun 28 1990 14:03 | 67 |
| The following response is from the basenote author.
=maggie
===================================================================
Thank you for the kindness of your replies it really put into
perspective what I have learned myself about the disease.
I have learned what I know from reading different reports and
dissertations and newsletter articles(I get four newsletters from
different organizations in US and Canada about HD.)
The Disease is genetic and dominant and it does not matter whether you
are male or female as to whether or not you will inherit the gene. Each
child of an afflicted parent will have the 50/50 chance of inheriting
or not.
In a study done at one of the research centers an observation was made
about the age of onset of symptoms can vary if the afflicted parent is
male. The study showed a tendency for children of afflicted fathers to
develop the symptoms of HD at earlier ages than that of the father. It
was also noticed that when Juvenile HD occurred the odds were vary high
that the afflicted parent was male.
Usually the age of onset in a family stays about the same for the
children of mothers who have the disease.
I finally did call and they (the investigators) have been at a medical
conference in Indiana. I also heard that they are getting ready to open
a new test site there.
They said something should be decided in the next few days when they
get a chance to get together and discuss me. I really liked the people
that I met in Wichita. They are very caring and compassionate. They
believe in giving as much information as possible to the families so
that they can make informed choices for their future.
HD is also referred to as a genetic time-bomb. Huntingtons is
devastating to families for many reasons one being the average age of
onset of symptoms hits in the prime of life. i.e. when people have
already started their families. It causes personality changes and
clumsiness and irritability. The symptoms can be briefly explained as a
degeneration of physical and mental control.
Herb's observations about the topics that are top of my mind are to
the point. The topic of whether or not to have children because you may
give them the disease or be unable to raise them is one of the many
topics brought up in conversations with other at-risk individuals. The
options are as varied as there are individuals and I know for myself I
have changed my mind several times. Three years ago I swore I would not
give birth to a child that I thought I could not raise. I was alone and
could not depend on the fathers of my children to be able to take care
of them. I found a life partner and we together had to decide whether
or not to abort the child we found we had conceived. That's another
story entirely but the discussions were long and various options were
brought up. i.e. adoption, abortion, etc. In the end we chose to take
the risk that he would end up raising a small child with me getting
sicker. He has a great family and if worse came to worse his mother and
father and sisters and brothers will help us raise them.
Must get this ready to send.
Thank you all for your support.
--Also At Risk
|
| 213.17 | | MOMCAT::TARBET | | Mon Jul 16 1990 15:17 | 57 |
| The following response is from the basenote author.
=maggie
===================================================================
Hi! I still don't know whether or not I will be accepted to the test
group. I called my Aunt and asked her for details on the family history
and she was very concerned about my mother's reactions to my taking
the test. I have always been open with my mother about my feelings and
even though she has difficulty expressing her feelings if I thought for
one minute that she was feeling anything other than usual concern of a
loved one for the outcome I would do everything I could to try to
convince her she is not responsible for passing the gene onto her
children. It is a flip-of-the-coin chance we have to accept and if she
had known about the disease when she was contemplating children would
her choice of religion allow her to not have children?
Remember this was thirty-some years ago when both my parents for their
own reasons converted to Roman Catholicism before getting married. At
that time no one in her immediate family knew about the disease and no
one (to my knowledge) has been able to find out if Grandpop knew about
Grandma's family history. He is now 92 or so and does not cooperate in
conversations. My Aunt still is concerned that my mother may harbor
guilt about having children and grandchildren. I remember her sharing
feelings along those lines and firmly told her that had she known I
would still want to be here and have my children. We will attempt to
cope with this as any family learns to cope with the adversities that
spring up. This conversation took place in 1987 several times (short
term memory is screwed up so repetitions occur until the person with HD
has managed to get info into long term memory.)
I had assumed that since she had not brought it up again that she had
accepted it at face value. But just to be sure I brought it up again. I
asked her outright if my being tested would bother her in any way. Did
she feel comfortable about knowing the results + or - , Or would she
rather not know anything about it. After she indicated she was comfort-
able with my being tested and knowing the results I made my speech
about being very grateful to be here to make my own choices and
mistakes and to enjoy my children and husband and to let them enjoy
her. I reminded her that my daughter wouldn't trade a minute of time
spent with her going swimming and bike riding etc. I also am grateful
for my mother being able to spend so much time at the day care
provider's Home with my younger children. They will not know her the
way my daughter does but they will know her and not just see a picture
of her. I hope she can enjoy my children and fill the time with being
with them in a loving environment where she can choose to come or go
and be welcome and free to leave when she wants. She has lost the
ability to enjoy her favorite hobbies that involved a lot of hand
work (sewing and liquid embroidery). So I would hope that any guilt she
would have felt is long ago handled and she can now enjoy the pleasure
that her children and grandkids bring.
Also-at-risk
|
| 213.18 | | MOMCAT::TARBET | They call her The Devilish Mary. | Fri Aug 03 1990 17:09 | 73 |
| The following response is also from the basenote author.
=maggie
====================================================================
I have finally gotten word about my status in the HD testing program at
Don Allen Memorial Clinic. The answer is tentatively yes. They are
worried about a positive result on my daughter: she is 11 and knows
the implications. She does not want me to have HD because she doesn't
want me to "get like Grandma". She also knows that if I do have HD she
has a 50/50 chance of having it herself. I dont feel its right to hide
this from her so I have always talked about what was on my mind.
They want me to wait 6 months. I was/still am angry, depressed,
frustrated and defensive. I admit I reacted and I immediately thought
they saw something in the neurological work-up and they want to wait 6
months to see if to see if it gets worse. Just a few minutes later I
was convinced I realy do have HD and they are just waiting to let me
get used to the idea.
Yes they will give a HD patient a "clean bill of health" with the "at
this time" clause. Baltimore did it to my Aunt. I know they hide
results from patients thinking its in the best interest of the patient.
I did sign the waver so I have no legal recourse.
Getting back to initial reactions. Within 10 minutes of hanging up I
realized I was prepared for a "yes" or a "no". Not a "wait and see". I
decided to take this for the worse case and make plans accordingly. I
will figure a way to tell her that I have HD. She will know that she is
at risk. She will grieve and I will grieve with her. Our family will
grieve and we can get it over with and get on with living. Grieving
would be best done now when school is not in session and my daughter is
in a very loving day care situation. My provider would do additional
talking with my daughter and my mother is there in the home everyday to
hug her and hold her. Soon would be best for us because I would not go
through this mid-year. My daughters grades went from A's and B's to
F's three weeks before the end of the year. It took a tremendous
amount of effort on her part to bring up her grades to C's.(She had
tremendous incentive. I would not allow her to go to GS camp if she
brought home any thing lower than a C, and told her she would go to
Summer School and would have to make A's and B's for the courses.)
I would have gone last February but decided that my daughter needed
more prep time so I waited till June. I thought I had done a good job
of preparing her. Now to wait another year seems impossible.
Well, my physician told me under no circumstances was I to tell my
daughter I had HD till I was sure. He said it would be too traumatic
to tell her and 7 or 8 months down the road take it back. My husband
did not like the idea and also asked me to refrain from telling her. I
will not tell her now. My physician will write a letter requesting
that they reconsider their decision and I will wait for the emotions to
play themselves out.
My two younger sons are included in conversations (in that they are
present when discussions take place when my daughter is there) but I
don't think they really understand the implications. I hope they will
absorb the information and ask questions and I know that eventually
they will go through a grieving process too. Its possible for HD
patients to live fruitful lives (look at Woody Guthrie) I just want to
be prepared for it. I want to prepare my children for it. If I don't
have HD I want to have another child next year.
I didn't prepare enough for this process. I should have realized that
there can be a gray area and I may have to wait.
I am depressed. My physician increased the dose of my medication. I
really didn't know I would react like this to a "maybe". I guess I am
just tired of "maybe I have HD and maybe I don't".
|