1. How do you foresee this story impacting your professional role as a nurse?
I chose the category of ‘newborns and infants’ as it related to genetic
abnormalities. The reason I chose this section was because I hope to
eventually work in the NICU and can predict that some of my patients will be
discovering that their infants have genetic issues. These parents may be
required to see specialists in order to discover a diagnosis and understand
the manifestations and ramifications of their child’s disease. I think my role
as a nurse will involve the possible discovery of these diseases through
assessment and inspection, and then the role of comforting and reassuring
the parents as they unravel the diagnosis.
2. What cultural, ethical, legislative issues related to genetics were apparent in
your story?
There were mostly ethical issues that came in to play with the story of Judith.
The mother had quite a journey of discovery, as it took nearly a year to get a
final diagnosis; and in the meantime, she was confronted with some dialogue
by physicians that was less than professional and not very tactful. It was
obvious in the story that as the time passed, without a diagnosis, the stress
level grew and anxiety was at its height. The parents were diligent in their
pursuit, as was their pediatrician. Even though the physician’s relentless
search was comforting throughout the journey, not every healthcare provider
showed the same sense of professionalism.
3. What prevention implications do you think are important in the patients’ story?
(primary, tertiary, end of life)
This particular disease, Rett Syndrome, results from a purely random
mutation that spontaneously arises in the father’s sperm. It can not be
predicted and is very rarely found in siblings or additional offspring.
Therefore, there is really no prevention applications for this disease. The
implications throughout the life cycle are complete dependence on a
caregiver. The family values the child’s presence and loving gaze and happy
demeanor. As to the future, people with Rett syndrome can live into their 30’s
or 40’s, but tend to have progressive problems with breathing irregularities,
seizures, feeding difficulties and scoliosis. Some die suddenly and
unexpectedly from heart problems. Knowing these details about her disease
will allow the parents and healthcare providers to know what to watch out for
and be alert for the signs and symptoms of this diseases’ complications.
4. Describe the supplemental website you found related to your patient's story
and how it would benefit a patient.
Since I started nursing school, I appreciate the NIB website for disease
insight. This site is very useful for explaining the etiology of disease, its
manifestations, the treatment options, and the long- term predictions. When
faced with a difficult diagnosis, I am one that likes to get ALL the information,
and this site definitely does that. As this mother stated in her story, having an
actual diagnosis was so important for everyone involved. Being able to
predict a disease progression, knowing how to treat it, and what to expect
from it in the future is key for acceptance.
1. Visit EITHER the Telling Stories or Links to an external [Link]
[Link] to an external site.
2. Choose a "story" that is of interest to you. The story can have a video or
reading component. Not all the stories have videos and some of the videos
are not functioning.
3. Find a website relevant to your telling stories case. You will reflect on the
website and its benefits to a patient’s education and support.
4. Describe your personal reaction to this story.
The story that I chose reminded me of some very important communication
skills that I want to remember when I am in practice. The infant in the story
was showing all signs of being a healthy newborn up until about a year of
age. At this time the parents and the pediatrician noticed that some of the
infant’s delays were dragging on longer than they were willing to accept. The
search for answers began. It took nearly a year to get a final diagnosis and in
that time the family had conversations with a variety of specialists. One of the
key points I took away from the article was how critical it is as a healthcare
professional to choose your words wisely. I appreciated how the mother
commented, ‘Parents undergoing this kind of protracted trauma are extremely
fragile and should always be ‘handled with care.’ I can personally attest to
these feelings. Every dialogue and every word heard is taken in and then
meticulously dissected for hours and days after. Healthcare providers must
choose their words carefully and be particularly cognizant of these
individuals. I felt like I could have been the author of this article as the mother
stated, ’the shock was enormous, verging on physical, in its effects.’ I can
still remember how it felt to get a difficult diagnosis about your children, and
then deal with all the practitioners that give their ‘best guess’ as to the
outcome. Some of the words were hurtful and the attitude of some
professionals bordered on cold and aloof. The family finally got a diagnosis
and even though it left their child completely dependent on others for her
care, the ‘knowing’ was the key to acceptance and ultimately allowed them to
start living again. I hope in practice that I remember this story and my own
experience as I communicate with patients and their families. I want to be the
person that gave them comfort and love instead of judgment and indifference.
Identify a genetic issue or pharmacologic treatment a Registered Nurse might
encounter while caring for patients? How does genetic information impact
treatment solutions and plans?
There are a variety of genetic issues that a NICU nurse can encounter, but
the most prevalent will probably be Downs’ Syndrome. Having the necessary
diagnosis is an integral part to a patient’s care, both physically and mentally.
The story I read was very specific in this fact. An unknown diagnosis is so
much harder to navigate then the more finite details that come with a label.
Having the disease named and having information available to be able to
predict the manifestations and the long-term ramifications can allow a patient
and their family the opportunity to accept and plan for the future. It also helps
the healthcare team give better care and offer options for treatment.
Healthcare providers and can also be proactive in their treatment and this can
sometimes even slow the progression of the disease. ‘Knowledge is power’
in these instances, so coming genetic information can help be very helpful.