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Mary
Mary is about to turn 50 and has a lot on her
mind. Her youngest child just left for college and her husband
had a heart attack last year. It seems like he's doing well,
but she still worries about him. Her family tells her that
she seems moodier and more distracted than usual, and she's
been forgetting things more often — her car keys, a
friend's phone number, what she needs at the grocery store.
When she couldn't remember where she'd parked her car at the
mall last week, she decided to see her doctor.
The cause of her worry is Alzheimer's Disease
(AD). You see, Mary's father died two years ago at 67, after
suffering with the disease for ten years. He had the early-onset
form of AD, as did several other relatives on his side of
the family. There may have been some cases of early-onset
AD on her mother's side, as well, though the history there
was sketchier because they lived in Ireland. She's afraid
that she has the same condition, which results in inevitable
mental decline and dementia.
Her doctor performs a complete physical exam
and obtains blood work, the results of which are normal; stress
seems the most likely culprit for Mary's forgetfulness. But
because of the presence of several possible warning signs
and her strong family history of early-onset AD (which can
be caused by a genetic mutation that runs in families), the
doctor refers Mary to a genetic counselor to discuss the pros
and cons of being tested to see if she carries one of the
genes known to increase the risk of AD.
Mary is faced with an important decision. Is
it better to know in advance her chances of developing a disease
with limited treatment options or is not knowing what the
future holds the best option? After much thought, Mary decides
to have the test performed. It would be very difficult to
learn that she has an AD gene because there is as yet no proven
prevention or cure for the disease. But knowing if it were
the likely cause of her current symptoms would give her time
to get her affairs in order, to make plans for her future
care, and to enjoy time with her family before her condition
worsened. It was a tough choice for Mary and her family.
She was relieved to learn that she did not carry
any of the genes that have been associated with increased
risk of early-onset AD. The genetic counselor explained that
this was not a guarantee that she would never have the disease,
but that her risk was no greater than anyone else's.
With this reassurance, she followed her doctor's
advice about making some changes to reduce her stress —
she started exercising regularly and spending a few minutes
each day doing something special for herself. Things have
improved and she is forgetting less.
For more information on AD, visit the website
of the Alzheimer's Association at www.alz.org.
Sheila
Sheila first noticed a small lump in her breast
about two years ago. It worried her, but she hoped that it
would go away if she ignored it. It didn't, and in fact seemed
to be getting larger, so she finally went to see her doctor.
After a mammogram and biopsy, she got some bad news —
she has advanced breast cancer.
Cells from her tumor were tested and shown to
make a large amount of a particular protein — called
HER2 — that is associated with an aggressive form of
breast cancer. HER2 is an oncogene that plays a key role in
regulating cell growth, and it is overexpressed (more than
a normal amount is made by the tissue) in about 25-30% of
patients with advanced breast cancer. More than 90% of breast
cancer biopsies are tested for HER2 expression.
Her doctor explains that this means she has
a good chance of responding well to a treatment used only
in women whose cells overproduce HER2 because it was shown
to be more effective than other treatments in these patients
in clinical studies.
Thanks to this Medicine Response Test, Sheila
and her doctor know that they are using the medicine most
likely to help her.
Researchers are studying the use of similar
genetic techniques to test cancer cells for their response
to chemotherapy medicines. The results of this research will
enable doctors to prescribe the drug that is most likely to
be most beneficial to a specific patient.
Mike
Mike went to see his doctor after enduring years
of gradually increasing joint and muscle pain, chronic fatigue,
weakness, anxiety and impotence. Although job stress was high
on the list of possible causes, the doctor ordered some blood
work to be sure nothing else was wrong — after all,
this was the first time Mike had come to the office in over
ten years. The doctor was surprised to see an unusually high
serum iron concentration.
The results of additional testing led to the
diagnosis of hereditary hemochromatosis (HH) — a disease
that almost no one has heard of, despite the fact that the
Centers for Disease Control and Prevention call it the most
common genetic disease in the US! 1.5 million people in the
US have the condition and 32 million people — 1 in 8
— carry the gene. It is most common in people of Irish,
British or Scottish descent.
Mike's body was experiencing an iron overload
because cells in the small intestine absorb too much iron
from food. Over many years, the excess iron is deposited throughout
the body (liver, pancreas, heart, joints, skin), leading to
various symptoms and eventually conditions such as cirrhosis,
liver cancer, irregular heartbeat, diabetes, and arthritis.
The early symptoms are vague, however, and often attributed
to other causes. With early diagnosis and careful monitoring
and treatment, the serious long-term consequences of HH can
be avoided.
Fortunately, Mike is being treated successfully
by having blood drawn periodically (which also removes iron),
and other members of his family are being checked to see if
they have the disease or carry the gene for it. Knowing in
advance if they might develop the disease gives them the option
of early treatment.
For more information about HH, check the website
of the American Hemochromatosis Society at www.americanhs.org/.
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