A patient's journey: our special girl
BMJ 2006; 333 doi: https://doi.org/10.1136/bmj.38937.455949.55 (Published 24 August 2006) Cite this as: BMJ 2006;333:430All rapid responses
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As someone who has had a similar experiences to that noted above and
can
identify with some of the respondents' view points as to diagnose or not
to
diagnose.
The failure to diagnose can lead to complications if a diagnosis has
not been
found and the best way of achieving that with this complex case is through
a
genetic specialist.
For example in hypocalcaemia - kidney problems and calcification
from the
failure to measure ionised calcium which can result in seizures.
With a diagnosis, it is much easier to know what you are treating and
what
the likely prognosis is likely to be.
Not to diagnose can also lead to unnecessary tests along with anxiety
along
with treatment or in my case considerably delayed treatment and diagnoses.
Visiting different hospitals with a young child and requesting tests
can also
lead to "exaggerating symptoms to gain attention" along with accusations
of
Munchausen Syndrome by Proxy. The way a letter is worded can also lead
to
such a suspicion "this patient comes from a medical family and has had
numerous tests". Part of the profile is the request for tests, changing
hospitals, an interest in medicine or medically qualified!! www.msbp.com.
A lack of a diagnosis does not help and it is very difficult to get
allegations off
once they are on the notes. Unfortunately, it does not make a difference
if
you come from a medical family or are a doctor (even high profile).
Meeting
the wrong paediatrician who has these views is, unfortunately, a danger
and
often the parent is unaware that it is happening particularly if you end
up
having a difference of opinion or come across more knowledgeable than they
are or make them look a fool because you know they are wrong.
When I eventually got a diagnosis for my son aged 2 and a half, I was
wholly
relieved to have finally found the answer for his numerous symptoms of his
syndrome and found that it was "consistent with diagnosis". It was
nothing
like what was suggested originally by a paediatrician. I just wish I had
had it
earlier in order to implement appropriate therapy. The Internet can also
be a
danger as well of a benefit in supplying information as it can also lead
you up
the garden path. However, there are some particularly good sites for
example www.rarediseases.org, and www.wrongdiagnosis.com which you
may find particularly useful.
As an individual who has the same genetic deletion and a considerable
number of different problems (no congenital heart disease) because of
delayed diagnoses but a completely spectrum to that of my son, sometimes
it is best not to research too deeply into things and thereby over-
investigate
and become too knowledgeable. I leave the care these days to my
consultants delivering my care and is a rare disease.
My advice to you is to get a diagnosis even though you might not like
it.
After that have one paediatrician 'controlling' the case with the other
consultants reporting to that consultant and only have tests which are
necessary that they request, benchmark, monitor and treat. I stick to
this
philosphy these days and have one consultant who controls the case.
Unfortunately, a paediatrician's view point is with the 'best
interests of the
child' and not with that of the parent.
Best of luck.
Competing interests:
None declared
Competing interests: No competing interests
Sir,
We congratulate Sandra Dunkelberg on her article (1), which
eloquently describes the experience of looking after her child who has a
rare disease with as an as yet unknown diagnosis. Unfortunately, these
experiences are all too common in those people and their families with
rare disease. A survey by The European Organisation for Rare Diseases
(Eurordis) in 2005 showed that 25% of people with one of eight rare
diseases experienced delayed diagnosis.(2) 45% had their diagnosis
communicated unsatisfactorily. They are able to list common problems
experienced by people with diverse diagnoses. Eurordis estimate that 6-8%
of people in Europe have a rare disease.(3) Anecdotally, we know that
General Practitioners often see people with rare diseases (4), but there
is no published information about the role of primary care in rare
diseases. We believe that there is a need for a generic approach to people
with rare disease that will avoid some of these problems commonly
experienced by patients. An outline as to what a generic approach might
look like has been published in the Medical Journal of Australia.(5) We
would welcome comments on this approach and how the common problem of rare
disease should be managed in general practice. It’s time for a discussion
to start.
References:
(1) S Dunkelberg A patient's journey: our special girl BMJ 2006; 333:
430-431
(2) Eurordis. European Organisation for Rare Diseases. EurordisCare2:
survey of diagnostic delays, 8 diseases, Europe. Available at:
http://www.eurordis.org/article.php3?id_article=454 (accessed 30th August
2006).
(3) Eurordis. European Organisation for Rare Diseases. What is a rare
disease? Available at: http://www.eurordis.org/article.php3?id_article=252
(accessed 30th August 2006).
(4) Phillips WR. Zebras on the common: rare conditions in family
practice. J Am Board Fam Pract 2004; 17: 283-286.
(5) AW Knight and TP Senior The Common problem of rare disease in
general practice MJA 2006; 185 (2): 82-83 available at
http://www.mja.com.au/public/issues/185_02_170706/kni10328_fm.html#1
Competing interests:
None declared
Competing interests: No competing interests
Gilfillan [1] makes an excellent point about how indifference to
'individualised' management leads to poor management, for patients who do
not correspond to the 'median'- for example those who do not conform to a
clinician's routine expectations of their treatment. Dunkelberg's little
girl [2] might have gone on forever in an aimless cycle of trial-and-error
testing, if good practitioners had not accepted that they had not seen
someone quite like her before, and demonstrated caution and humility in
their practice.
The director of public dialogue at the Association of Medical
Research Charities, Sophie Petit-Zeman, has produced a vivid overview of
these patient-centred issues in a UK setting, in 'Doctor, what's
wrong?'.[3] In the section on Testing Treatments she concludes:
'Uncertainty is certainly unpopular, unfashionable.' (page 179).
Of course, an individual child is not a population, nor a
distribution.
[1]Gilfillan IS. The patient from hell. BMJ Rapid response 29 August
2006.
[2] Dunkelberg S. A patient's journey: our special girl. BMJ 2006;
333: 430-431.
[3] Petit-Zeman S. Doctor, what's wrong? Making the NHS human again.
London: Routledge, 2005.
Competing interests:
None declared
Competing interests: No competing interests
This article shows many similarities to the experience of Steve
Schneider, and described in his recently published book "The Patient From
Hell".
Professor Schneider, a climate change scientist at Stanford
University. eloquently describes the diagnosis and treatment of his mantle
cell leukaemia. He questioned everything, and used his scientific
background with great effect to influence his treating physicians. For
example, he was offered only one white cell count to check for
neutropoenia following his first cycle of chemotherapy. He questioned
this, and when told of the parabolic curve that describes white cell
depression following chemotherapy, his knowledge of mathematics led him to
insist on three tests, the minimal datapoints required to describe such a
curve. One of these additional tests discovered his white cell nadir, and
led to hospitalisation for reverse barrier nursing.
He argues strongly that evidence based medecine and the randomised
controlled clinical trial has led to optimal treatment of only the median
patient. Consequently, without individualised diagnosis and management,
the majority of patients will be either under or over treated as a
consequence.
He certainly gives us all food for thought, as does Sandra
Dunkelberg's experiences.
Competing interests:
None declared
Competing interests: No competing interests
Once again this article tells us that patients with serious problems
are no "customers" and that the German health care administration must
tackle the problems of an extremly fragmentated health care system.
Competing interests:
None declared
Competing interests: No competing interests
Lesson learnt from “Our special girl” about the training of future doctors
I was saddened when I read the article, “A patient's journey: our
special girl” by Dr Sandra Dunkelberg. I have had similar experiences
taking my loved ones to the hospital and I am sure that many others, all
over the world would have had too.
This article has made it very clear that we should reexamine the
training of medical students, even from their undergraduate years.
Probably, while training doctors, not enough emphasis is given to
communication skills, empathy, compassion, etc. in general. Perhaps, the
emphasis is more on accumulation of a lot of factual knowledge about
diseases and passing of numerous examinations. This results in churning
out doctors, ill-equipped to handle patients and care-givers in a humane
manner, in many parts of the world.
In UNIMAS, communication skills are emphasized right from the first
year, in our curriculum. We hope that our students would have good rapport
with patients and their care-givers and will be humane in their approach,
when they practice medicine after graduation.
Competing interests:
None declared
Competing interests: No competing interests