Download More than just science: one family`s story of a chromosome

Genetics
More than just science:
one family’s story of a chromosome
translocation diagnosis
Results of genetic tests may have a significant
psychosocial impact on the family, as one family and
the genetic nurse who worked with them report
and feeding her became a nightmare, with projectile vomiting all over the carpet. The health visitor kept saying: ‘What
does the paediatrician say?’
At six months, Sarah had some tests but the doctors
could find ‘nothing wrong’. As I was to learn later, this
didn’t mean there was nothing wrong with her, but just
that the tests didn’t show anything.
Dr Heather Skirton, Reader in
Across the UK, there is a network of NHS genetic servic-
By the time Sarah was ten months-old, I found out
Health Genetics, Faculty of
es to which families may be referred for a number of rea-
about the local opportunity group. The physiotherapist
Health and Social Work,
sons, for example because of a family history of cancer or
and all the staff at this group were such a help. They helped
University of Plymouth
to seek a cause for their child’s developmental delay. In the
Sarah to develop to her full potential and helped me to
past, advice might have been based solely on a clinical
help her. Although she lived until she was two and a half,
diagnosis, but new technologies often now enable a defin-
she only ever stood up holding on to furniture, never
itive diagnosis of a genetic condition to be made, based
walked and never learnt any words. The main thing was
on genetic or chromosome testing. This information may
that she didn’t grow and, looking at photos of her now, I
have a significant psychosocial impact on family mem-
don’t see much difference from year to year – I can’t tell
The second and third authors
bers. Grief and feelings of guilt are frequently described
the difference between her first and second summer.
have chosen to use
by parents. The use of genetic testing for diagnosis is increas-
When Sarah was about 18 months-old, the paediatri-
pseudonyms and to alter some
ing, but it is the exchange of information between families
cian arranged for her to have an assessment. Two syn-
family information to protect
and clinical practitioners that forms the crux of the work of
dromes
the confidentiality of other
the genetic services. Genetic nurses and counsellors believe
Smith-Lemli-Opitz (SLO) – but I left the hospital without
family members.
that an important component of their role is to provide psy-
a decisive answer. The diagnosis mattered because Prader-
chological support to families as they adjust to that infor-
Willi is a one-off condition, while SLO has a one-in-four
mation and sometimes have to make difficult decisions
chance of recurrence in each pregnancy. Finally, it was
(Skirton et al 1997). This case study has been written as a
decided it was Prader-Willi and so on the strength of this
co-operative project between one family and the genetic
we went ahead and had another child. This was a similar
nurse who had clinical contact with that family. The sto-
pregnancy, but I did feel a small amount of movement.
ry starts 25 years before the referral …
During this time, I held the conviction that if God was
Richard Evans
Elizabeth Evans
were
suggested
–
Prader-Willi
and
with me, all would be well, whatever happened, and so at
Elizabeth’s story
KEY WORDS
the birth although I was shocked, I wasn’t devastated.
I had experienced one miscarriage and so was very pleased
When Ted was born, he had a hare lip and cleft palate,
to be pregnant, but I felt something was wrong during
but he didn’t look very like Sarah. Because he had these
Sarah’s pregnancy. I was so small for dates and didn’t feel
abnormalities, however, we immediately thought, here is
the baby move. When Sarah was born, her ‘Apgar’ read-
another baby with Sarah’s problems. I thought, how can I
ing was very low. Around her face, she didn’t look like the
bottlefeed this child even with a special bottle? Ted never
Genetic counselling
other newborns and I insisted on seeing the paediatrician
left hospital, though, and because of a serious heart con-
Family care
because she was different. She was very slow to gain weight
dition he lived just one month. Immediately after his birth,
18
Paediatric Nursing
vol 16 no 10 December 2004
Genetics
we thought that his diagnosis should have been SLO and
to hand. It seems to us that the decision would have been
so we assumed we were both carriers of this gene.
not to try for another child, because not only are the risks
After Ted died, I visited my younger sister and we went
of a child with an unbalanced chromosome translocation
out into town in the winter. I think it must have been
very high, but also having a child with balanced chromo-
around then that Sarah caught the pneumonia that was
somes like myself is a high possibility. This hypothetical
fatal. Sarah died a month after Ted, aged two and a half.
child would have had very difficult decisions to make about
We visited the genetics clinic, where we were told that
having a family and so I would have been passing on a
we were probably carriers of SLO and that another preg-
very heavy burden to him or her.
nancy would carry a one-in-four risk. One option that was
The ‘whys’ have been answered scientifically, but not
suggested was artificial insemination by donor, but we
eternally, so it’s not the end of the story yet. I’ll have to
didn’t want to consider this. Since the two pregnancies
wait patiently, trusting God, and see how much of the sto-
had come up with what we saw as the ‘full-blown genet-
ry he will reveal to me when I see him and the children
ic version’ of the problem, we decided it was too risky to
in heaven.
try for another child.
I continued going to the opportunity group as an escort
Richard’s story
and a helper as I tried to get my life together. Eventually I
My experience as a father was to be a disappointment,
took my place in the world, where friends and contacts had
because the normal feelings of a new father were always
children and did family things while I was a spectator.
to be denied me. For me, the pride and excitement of my
Many, many people were very, very kind and we got used
own child being born was very shortlived; hopes and pleas-
to explaining why we hadn’t got a family and how it would
ures were dashed within minutes on both occasions at
have been different if either of us had married anyone else.
the point of birth in the delivery room. These unfulfilled
Recently my younger sister consulted a geneticist
hopes have left a big gap ever since, and some of them I
through her GP for the sake of her two adult children.
believe I do not even know about. That emotional sense
This geneticist suggested a chromosome test to check for
of joy did not come my way.
translocations for her, myself and our other sister.
Right from those early days through to the present time,
As a result of this, my husband and I both had our chro-
a sense of loneliness has been very real to me. At first, it
mosomes looked at earlier this year. I was found to have a
was the separation from friends who, although they showed
‘balanced translocation’, while Richard’s chromosomes were
kindness and were full of sympathy, left us on our own. I
normal. My two sisters’ chromosomes were also normal.
think this was because I had gone beyond a certain point
So, after more than 25 years, the mystery was revealed
After more than
25 years, the
mystery was
revealed
through
modern science
– what we had
assumed about
our children
was wrong
through modern science and what we had been assuming all those years about our children was wrong.
By this time, most new people we met thought our children were grown up and had left home, and our friends
were becoming grandparents. Seeing all this is hard, as I
had to be brave when friends were having babies of their
own and now I have to continue to be brave when I see
the pleasures of grandparenting. Mainly I am relieved to
know the real story and I am adjusting to the new information that I am the cause of the problem and it is not
caused by both of us. I am glad that I didn’t know all the
facts soon after the children’s deaths for several reasons.
One is that the combination of the bereavements and the
knowledge that I was the cause would have pulled me
down and would have taken me longer to go out into the
world. In addition, accurate knowledge of the real prob-
ALAMY
lem after the children’s deaths would have made us have
to consider a third pregnancy with different information
vol 16 no 10 December 2004
Paediatric Nursing
19
Genetics
where they could not come with me. I had lost companions
given us many good friends and experiences we never
in life, those friends who previously felt they could compare
expected, and we look forward to the time when in heav-
themselves with me. On most occasions we found in relat-
en, we shall be with our children again.
ing our losses to them, it would always have to be us giving
Genetic testing cannot be seen as a single
event, but as one component in the continuum
of the family’s experience
The nurse’s story
Elizabeth and Richard were referred to the genetics service by their GP. Elizabeth’s sister had asked her to have a
chromosome test after undergoing genetic counselling in
another area of the country.
them encouragement and help in order to accept and under-
The referral letter stated that Elizabeth and Richard had
stand what had happened to us. We both felt we had to fight
two children who died in infancy. The children had been
through and survive together and the support we gave to
diagnosed with SLO syndrome, but the geneticist who
each other was immeasurable.
saw her sister felt that a chromosome test would help clar-
As Sarah was growing (in her way), I had a very deep love
and attachment to her and as there was no other child to
ify whether her future children might be at risk of a genetic condition.
compare her with, I was naturally filled with great hope for
At our first meeting, I drew a family tree. The couple told
her future, as if she were our normal daughter. Nobody had
me that they had two children, and that neither had lived
any idea how to help us. We, in fact, were never given any
beyond the age of two years. Elizabeth and Richard described
prognosis that was to be detrimental about her future life
their children and at the time I made notes (see box 1).
and even the doctors kept saying ‘we can’t find anything
Elizabeth and Richard told me that initially it had been
wrong with her’, so we thought she was going to eventual-
suggested that Sarah had a condition called Prader-Willi
ly pull through … How misleading this information was!
syndrome. The genetic mechanism behind this syndrome
The gaps continue, and in our case they will never go
is quite complex (Nativio 2002) as the gene fault occurs in
away because there are no other children to make a fam-
an imprinted area on chromosome 15 (Skirton and Patch
ily. I have no extended family that I can be proud of as my
2002). As Sarah was very hypotonic (floppy) and small at
own – for us there are no normal Christmases. Ted was
birth, this was a potential diagnosis (Jones 1997). It soon
born on December 24, so this is still a time of the year ‘to
became clear, however, that this was not correct and anoth-
get through’.
er diagnosis, that of SLO syndrome, was suggested.
Now, and after all these years, we are still together and
SLO syndrome is a condition in which children have
our love for each other has deepened. We can see now
abnormalities in many body systems, caused by a defect
how God, who was faithful to us all the way through, has
in the biosynthesis of cholesterol (Kelley 2000, Danzer et
al 2000). Children with the syndrome are generally small
Box 1: Genetic nurse’s clinical notes from first meeting with family
at birth, have altered muscle tone and unusual facies (Jones
Sarah
Ted
1997). For recessive conditions, both parents are carriers
❘❚❘ Small for dates during the
❘❚❘ Small for dates during pregnancy
of a faulty gene, and in each pregnancy there is a 25 per
❘❚❘ Birth weight at term was 3-4 pounds
cent chance that the fetus will inherit the condition (Skirton
❘❚❘ Low Apgar scores at birth
❘❚❘ Cleft lip and palate
and Patch 2002).
❘❚❘ Extreme failure to thrive
❘❚❘ Hole in heart (septal defect)
❘❚❘ Didn’t look like family
❘❚❘ Abnormal genitalia
any more information we could provide about the causes
❘❚❘ Serious feeding problems
❘❚❘ Floppy muscle tone (hypotonia)
of the children’s problems. They agreed to send photos of
❘❚❘ Floppy muscle tone (hypotonia)
❘❚❘ Died before 4 weeks of age from
Sarah, but it was very poignant to hear that Ted had not
pregnancy and at birth
❘❚❘ No speech at all
Elizabeth and Richard were keen to discover if there was
ever come home from hospital and there had never been
heart problem
an opportunity to take his photograph.
❘❚❘ Delayed motor milestones
Blood was taken at this meeting for chromosome analy-
❘❚❘ Died at 30 months from perforated
sis (karyotype) of both parents. The lymphocytes are cul-
stomach and pneumonia
tured and the chromosomes studied down the microscope
❘❚❘ Found at post-mortem to have a
(Gardner et al 2000).
rotated gut and heart problem
I was able to retrieve some notes from the hospital where
20
Paediatric Nursing
vol 16 no 10 December 2004
Genetics
Sarah and Ted had been treated 28 years previously. These
notes confirmed that Sarah had short stature and mental
Key points
retardation. Ted had short limbs, cleft lip and palate, small
❘❚❘ Chromosome abnormalities can occur sporadically
thyroid, ventricular septal defect and truncus arteriosus.
❘❚❘ Some chromosomal abnormalities arise when the parent has a balanced
The results of the parental karyotypes reported that
Richard’s chromosome structure was normal male (46,
XY), but Elizabeth was found to have a balanced chromosome translocation. Part of the long arm of chromosome 22 had swapped places with part of the long arm of
chromosome 14. The amount of chromosomal material
was balanced in Elizabeth, but any ovum she produced
might contain an unbalanced chromosome structure.
chromosome translocation and the child inherits an unbalanced amount of
chromosomal material
❘❚❘ An unbalanced chromosome structure usually results in physical and mental
developmental problems
❘❚❘ Genetic testing can have serious psychological consequences for those found
to carry an unusual gene or chromosome arrangement
❘❚❘ Support for patients through a period of testing and adjustment is part of the
nursing role
I was concerned about giving this news to Elizabeth.
She had lost her only two children, and I felt that the news
that they may have inherited an unbalanced chromosome
structure from her would be difficult for her to hear.
been changed had the translocation been found earlier.
Elizabeth and Richard were prepared to undergo testing for the sake of others in the family and much of the
At our next appointment, Elizabeth told me how she
worry for the younger members of the family has been
had been feeling fragile about the result. She read a poem
relieved. If the translocation had been present in other fam-
that described so vividly her feelings and the faith that
ily members, the identification of this could have enabled
made it possible to bear her sorrow. I felt so moved by her
the carrier to make informed decisions about future fam-
sharing of such personal thoughts.
ily. In a study of families having genetic counselling (Skirton
The geneticist had been able to determine the different
2001), most families who accepted a genetics referral felt
potential chromosome abnormalities that could result from
that bad news was preferable to uncertainty. Both Elizabeth
meiosis with the particular balanced translocation in this
and Richard have said that the knowledge about the cause
family. When looking at the literature, it was startling to see
of their children’s deaths has been helpful to them.
a picture of a child with one possible arrangement. It was
like looking at Sarah. It is obviously not possible to say with
Conclusion
certainty, but it does seem likely that both Sarah and Ted
This case study demonstrates the lifetime effect of a genet-
had unbalanced arrangements of chromosomes 14 and 22.
ic condition in one family. Genetic testing cannot be seen
Elizabeth and Richard made a decision not to have fur-
as a single event, but as one component in the continu-
ther family all those years ago, based on a one-in-four
um of the family’s experience. All nurses working with a
recurrence risk. The risk of them having a child with an
family have a responsibility to support families through
unbalanced chromosome arrangement was now assessed
any testing process and to acknowledge the psychological
to be about 35 per cent in each pregnancy. It seemed to
aspects of testing. This requires a basic knowledge of genet-
be a relief to them to know that the risk would have been
ics and competence in communication skills. Through
even higher than they had thought when they made their
exploration of the implications of testing, informed con-
decision. This higher risk affirmed for them that their
sent for testing can be obtained and the family offered
appropriate support in adjusting to the results PN
original decision was the right one and would not have
REFERENCES
Danzer E et al (2000) Smith-LemliOpitz syndrome: case report and
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Gardner A et al (2000) Human Genetics.
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Jones KL (1997) Smith’s Recognizable
Patterns of Human Malformation. Fifth
Edition. Philadelphia, WB Saunders.
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Kelley RI (2000) Inborn errors of
cholesterol biosynthesis. Advances in
Pediatrics. 47, 1-53.
Nativio DG (2002) The genetics,
diagnosis, and management of PraderWilli syndrome. Journal of Pediatric
Health Care. 16, 6, 298-303.
Skirton H (2001) The client’s
perspective of genetic counseling – A
grounded theory study. Journal of
Genetic Counseling. 10, 4, 311-329.
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Healthcare Professionals – A Lifestage
Approach. Oxford, BIOS.
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