Heart and heart-lung transplantation in Down's syndrome
BMJ 2000; 320 doi: https://doi.org/10.1136/bmj.320.7238.816 (Published 25 March 2000) Cite this as: BMJ 2000;320:816All rapid responses
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I am the mother of a 21 year Downs syndrome, man. I was never asked,
if a correction could be done. As time progressed, Pulmonary Hypertension
set in and again I was never told. Then he got Eisenmengers Complex and
again never told until it was too late. In the 80's he could have had the
option for surgery, but was never offered it.
My son deserves the same health needs as the rest of the population and
the only chance for him is a Heart and Lung Transplant
Why should I let nature take it's course, when my son is a human being.
His condition has got worse over the years and now has Polycethemia and
Chronic Hypoxcemia. He is on an oxygen concentrator through the night, to
try and slow down everything.
My son is so dear to me and I want him to have the best quality of life.
Competing interests: No competing interests
Sir,
We welcome the editorial on heart and heart-lung transplantation in Down's
Syndrome1. There is an increasing recognition of possible bias and
discrimination (albeit well intentioned) towards people with a learning
disability having access to a range of health screening and intervention
programs2,3. Rationing or prioritisation should be open with criteria
agreed by all stakeholders with no code of silence amongst the health care
professionals and with evidence based decision making particularly with
patients with a learning disability .
We believe that the root of the problem lies in the lack of quality
structured training in medical aspects
of the care of people with a learning disability in the UK medical
curriculum. Learning disability is in general taught from within
Psychiatry Faculties with relatively few hours allowed within pressured
curriculums. As many medical undergraduates dislike psychiatry and fail
to see its relevance to medicine, learning disability risks being doubly
stigmatised.
In previous decades when the majority of people with LD would live
within the isolation of colonies or similar institutions, local
development of skills in associate specialists, local GPs or local
hospital specialists might have sufficed although the evidence on changes
in life expectancy over recent decades speaks volumes for the lack of
aggressive interventions in the past4. Today with the full implementation
of community care and the transfer of the onus of medical care to generic
services we feel that the time has come to address the issues of training
for medical undergraduates and vocational training for GPs in this field.
People with LD make up approximately 2% of the population. Although
they are more likely to have concurrent medical illnesses than age matched
controls they have consistently been shown to be less likely to attend GPs
and less likely to be included in health screening, health promotion or
complex medical intervention programs than people with similar health
problems but without a learning disability5. They are commonly excluded
from clinical trial protocols into the effectiveness and safety of new
treatments. Government supported calls for improved health care6 have
faced major obstacles in their implementation partly as a result of the
funding implication but we would contend also as a result of the
defensiveness we all feel when faced with issues which we do not
understand and do not feel competent to tackle.
We would call for the establishment of a Confidential Inquiry into
deaths of people with LD to improve transparency and quantification of
health inequalities in this marginalised group and for a review of the
current training and exposure offered to medical undergraduates and
postgraduate doctors in the health needs and how to meet these for people
with LD. We believe that only by improving training will we increase
competence and decrease discrimination.
References:
1. Leonard H, Eastham, K & Dark, J. Heart and heart-lung
transplantation in Down's Syndrome. BMJ 2000,320:816-817(25March)
2. Stein K & Allen N. Cross sectional survey of cervical cancer
screening in women with learning disability. BMJ 1999; 318:641-641(6
March)
3. Aspray T, Francis R, Tyrer S & Quilliam S. Patients with learning
disability in the community. BMJ 1999; 318:476-477(20 February)
4. Jancar J. Cancer and mental handicap A further study (1976-1985). B J
Psych 1990; 156:531-533
5. Howells G. Are the medical needs of mentally handicapped adults being
met? J R Coll Gen Pract 1986;36:449-453
6. Lyndsay M. Signposts for success in commissioning and providing health
services for people with learning disability. Leeds: NHS Executive, 1998
Dr Mhairi Duff
SpR and Lecturer in Psychiatry of learning
difficulties
University of Bristol
Dr Matt Hoghton
Consultant in Physical health of people with learning
disability and General Practitioner
Bristol
Dr Mark Scheepers
SpR in learning disability
East Gloucestershire NHS
Trust Learning disability service
Competing interests: No competing interests
Given the high costs, difficulty in harvesting donor organs, long
waiting lists and very uncertain outcomes for this type of heroic surgical
procedure, I have pretty grave doubts about it either way. I have two
children, one with Downs, and I hope that they would both be treated
exactly the same way, whether treatment was granted or withdrawn.
Life is a precious gift, but death is not a failure - it is the one
outcome which is absolutely inevitable for us all. I think it would better
to use these scarce resources to improve the quality of life for the many,
not the few, through the provision of first-rate primary health care,
education, and social services.
Competing interests: No competing interests
Editor- The call by Leonard and Eastham in last week's editorial1 for
people with Down's syndrome to be treated fairly by the transplant
community is welcome. They rightly point out the lack of experience in
Britain and their concerns over the risks of infection, autoimmune disease
and malignancy. However we feel that the editorial presented a negative
view by concentrating on the possible medical problems.
Professor Bradley
(former director of the UK Transplant Service) has suggested that the
lowered immune system of people with Down's Syndrome may be an advantage
in preventing organ rejection.2 Much of the debate about these issues has
been carried out in the press, actual clinical research into conditions
associated with a learning disability being woefully inadequate. Without
research there can be no evidence-based medicine.
We are not surprised that there have been so few referrals for heart/heart
-lung transplantation in the UK. In a recent press case report,3 a patient
with Down's Syndrome was not referred for transplantation because no
previous operations had been carried out and they were thought unlikely to
be accepted. The move to community care for people with learning
disability has highlighted the need to look at their integration into
mainstream health services. The limited studies into secondary healthcare
for people with learning disabilities have shown problems of
communication, missed diagnoses, unwillingness to treat and confusion over
consent.4 Our current (unpublished) research confirms the urgent need for
general health professionals to increase their awareness of these issues.
Last week's editorial1 illustrates the lack of understanding of aspects of
consent. Many adults with Down's syndrome can understand enough about
medical procedures and their implications to give informed consent. The
emphasis should be on informing them about the risks involved - their
families cannot consent on their behalf. While there are ethical issues
involved where people are unable to consent, we believe more attention
should be given to the ethics of denying treatment to people on the
grounds of a learning disability, with the implication that has for the
value given to their lives. As they mention, the results of renal and bone
marrow transplantation are encouraging, as is the success in selected
cases of corneal transplants for keratoconus.5 However, medical success is
not the only criterion and the improvement in the quality of life for such
individuals can be enormous. Assumptions that a procedure will be "too
much" for a person, or that he/she will be "difficult to manage" have
powerful influences, yet remain untested. It would be unfortunate if the
first heart-lung transplant in the UK was, as in the US,2 done under
threat of legal action, rather than after informed, compassionate debate.
1. Leonard H, Eastham K. Heart and heart-lung transplantation in
Down's syndrome. British Medical Journal 2000; 320:816-817.
2. Toolis K. A heart for Jo. The Guardian Weekend. August 10 1996.
3. Ward D. Down's child is refused heart op. The Guardian. Monday
July 26 1999.
4. Mencap. The NHS - Health for all? 1998.
5. Volkerdieben HJ, Odenthal MTP, Damaro J, Kruit PJ. Surgical
treatment of corneal pathology in patients with Downs syndrome. Jounal of
Intellectual Disability Research 1993; 37:169-175
Susie Gibbs
SpR, Psychiatry of Learning Disability;
Northgate
Hospital, Morpeth, Northumberland, NE61 3BP.
Walter Muir
Senior Lecturer in the Psychiatry of Learning Disability;
University of Edinburgh, Kennedy Tower, Royal Edinburgh Hospital,
Edinburgh, EH10 5HF.
Competing interests: No competing interests
I am a father of two sons who happen to have Down Syndrome, who
happens to also practice family practice in a small Iowa town. From these
two perspectives, the EDITORIAL,
Heart and heart-lung transplantation in Down's syndrome by
Helen Leonard, Katherine Eastham, and John Dark edges us into an area of
perception we all as humans and physicians must face but rarely admit,
that of excluding our fellow humans (patients) by an internal gut-feeling-
societal-behaviorally-motivated distinction of difference; the choosing
"right and wrong" or not as right. If your wife or husband had an
increased family history of leukemia would that information as likely
exclude them from the transplant live-or-die list as it may be used to
exclude my child with Down Syndrome?
Our patients are not diabetics, manics, Mongoloids, but people with
these differences; fellow travelers of this planet. Who is to decide is a
difficult ethical question that requires ethical boards of review made up
of learned people who are compassionate and based in a world perspective
that allows for all of humankind.
Competing interests: No competing interests
I am the parent of a 16 year old son who was born with Down syndrome
and who developed juvenile diabetes at the age of 7. His life has been
transformed by the opportunities that individuals with Down syndrome
opened up for him, many of which we heard about from my obstetrician, who
was raising his own son with Down syndrome, then 16. As my son has grown,
he has opened many new doors in our community for other children born with
DS. He has informed and enlightened his family members, his medical teams,
and his community as he has grown.
When my son was in three years old, he attended a school that did not
have a Parent/Teacher organization, so we created one. As secretary of the
new group, I was often at the school, involved in more tasks than I
thought could exist. The young woman school volunteer who taught me all I
needed to know, and who reminded me when I forgot, was so efficient and
helpful that one of the things I forgot was that she had Down syndrome.
She is one of those adults who was born with heart problems before
surgery was safe enough for children. She has been honored several times
as "volunteer of the year" in our community and is a well-known and valued
individual. These days she is slowed down somewhat because she needs to
use a wheelchair and take oxygen around with her, but she is everywhere
she can help out. Her pithy observations always add to an event or
conversation and I wish that she was aware of this opportunity to
contribute to this type of conversation.
I have often sat with her mother at social functions and listened to
the discussion that older parents have about their children. Some do
believe that our sons and daughters have a bleak future; these are usually
the few whose children have had limited opportunities in segregated
settings growing up.
The rest observe that the current supports and programs in place are
continuing to provide opportunities for individuals with developmental
disabilities to flourish and contribute to their communities for their
entire life spans. They also speak of the imagined futures of their non
disabled adult children, sometimes with tremendous regret for the lives
they could have had but have already thrown away.
Most parents who have raised a son or daughter with Down syndrome are
aware of the dangers of trusting medical professionals. The same mistrust
exists within any community whose people have been victimized or neglected
due to prejudice and hate. How are we to know which doctors or staff would
allow their ignorance and prejudice against people with Down syndrome to
endanger them beyond the risks of the procedures offered?
Some physicians believe that a liver transplant should be given to a
'normal' drunk driver who has killed and maimed others, but withheld from
a person with Down syndrome who has been nothing but a contributor to the
well-being and development of their community. Those factors are not
considered when a 'normal' patient is placed on a transplant list and it
says more about us than it does about people with Down syndrome that we
seek to add qualifiers when considering them for referral.
I can think of no one who would be more deserving of life-saving
transplant surgery than my son, or the young woman 'volunteer of the
year.' They add value to our community with every year of their existence.
As parents, we would not allow our mistrust of the medical community to
stand in the way of their last chance for survival, because they relish
the richness of their lives, their work and friendships. We know they
would be more likely to use a 'second chance' more responsibly than most
of their mainstream peers.
I appreciate that this discussion is taking place. I hope that
prejudice and lack of experience in the medical community would not
endanger my son or rob him of the opportunity, if at some point a
transplant would be his last chance. Families of children with Down
syndrome much younger than my son expect and demand even more than my
peers and myself and the strength of their advocacy should introduce a
trend that physicians do not seem to expect.
The knowledge and innovations gained in providing transplants for
individuals with Down syndrome will benefit the whole population in ways
we can not imagine or predict; these patients have been undervalued as
human beings so long that physicians obviously do not expect to learn from
any experience with this especially sensitive population. I hope the
medical profession can catch up in time, and that the individuals who
enter this discussion offer as much to the world as my son has given every
day of his life.
Competing interests: No competing interests
I have grave concerns regarding this article and the response by Dr.
Green.
As mentioned in the article, many young children are given
transplants at an age when they may not understand what is happening to
them, either. I feel that if there is an adequate caretaker, this should
not be a problem.
There has been a concern in the Down syndrome community for many
years that the children or adults with Down syndrome are being denied
health care solely on the basis of their condition. While the concerns
that the authors bring up are valid, none of them are insurmountable to
the point that transplantation should be denied. Every person with Down
syndrome has a right to be evaluated on an individual case to determine
the appropriateness of a transplant, rather than being denied solely due
to the presence of the chromosomal abnormality.
As to "letting go" of the aging patient with Down syndrome, the life
expectancy of adults with Down syndrome is now in the 50s. I submit that
any cardiac condition that may shorten that life span even further should
be treated as aggressively as possible, as we would with any human being.
Len Leshin, MD
Competing interests: No competing interests
Dear Sirs.
Knowing when and when not to interfere with nature is very difficult. I
follow sereral persons with Down's syndrome and in my experience, when an
older Down's patient is criticaly ill, it is usually the families that
tell me to let nature take its course. Not that they don't love them, but
they seem to feel that it is nature's way. I do not pretend to know the
ritht answer, but I do feel that in each persons life, there is a time to
let go. Failure of the heart in an "aging" down's patient may just be the
time.
Sincerely,
Mark Green
Competing interests: No competing interests
Down's Heart Group welcomes this paper
Editor,
In response to the article “heart and heart-lung transplantation in
Down’s syndrome”, may I say how heartening it is to see this subject aired
in such a way in a well respected publication.
In my role within the Down’s Heart Group, a UK charity which supports
families whose children have congenital heat disease associated with
Down’s Syndrome, I have over a decade of experience of talking to parents
whose children are at all stages. Without exception, these parents all
want to do what is best for their child, and look to guidance from the
medical profession as to what direction this may take.
For that group whose children are older and for whatever reason did
not have corrective surgery, there is a great desire to enhance their
child’s life as much as possible, even when in some cases the introduction
of treatments such as oxygen use, may shorten their remaining lifetime.
These families want quality of life over quantity, and in my experience do
not make rash or unconsidered decisions.
I know of one family whose child was assessed for transplantation,
and told that it would be considered when the child had deteriorated
further. Having been through this procedure and having everything fully
explained, the family have, however, decided that this is not a route they
wish to follow with their child. This is their informed decision, and not
one that they would have been able to reach had they been denied the
opportunity of considering transplantation because their child has Down’s
Syndrome.
I know that there are other families who feel the same, but there are
others who have been told categorically that their child will not be
considered because they have Down’s Syndrome, so there is no point in
referring them. One was even told this by a cardiologist, and then found
from the transplant unit in question that they had no such policy!
The Down’s Heart Group fully endorses the right of everyone to be
considered for transplantation on an individual basis, we don’t ask for
special consideration, just for equality, and that people look beyond the
‘label; and see the human being.
Penny Green
National Administrator
Down’s Heart Group
UK Charity 1011413
http://www.downs-heart.downsnet.org
Competing interests: No competing interests