Williams Syndrome Association of Ireland
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This article was published in
Frontline magazine in January 1998. Our daughter, Karen, was born on
19th August 1983 after a normal pregnancy. My husband, Paschal, and I were
thrilled that the baby was a girl as we already had a boy of 2 and a half years
called Mark. Karen was small at birth weighing only 5 lbs. and 3 ozs. She also
had an umbilical hernia and because of these two facts she was immediately taken
to the hospital’s special care baby unit. This meant that she was in an
incubator for the first day and after that she continued to be looked after in
the special care unit rather than the ordinary baby nursery. We were reassured
about this situation by the doctors and nurses. The doctor told us that the
umbilical hernia was not unusual in newborn babies and that it would probably
fix itself in time. They did not propose to do anything about it at that stage
and they did not see her low birth-weight as a problem. I thought that it was
due to the fact that I had had a viral infection at approx. 7 months in the
pregnancy during which time I had not put on any weight so I did not worry about
the low birth-weight either. She did seem to have difficulty feeding and in
keeping her bottle down. She was given very small amounts of formula at frequent
intervals. After the usual number of days in the hospital I took Karen home. I put her carrycot in our own
bedroom as we had done with Mark. Her feeding difficulties continued and she
began to suffer what was thought to be colic - she had a crying period in each
24 hours that usually started at 11 or 12 o’clock at night. She would then cry
for between 3 and 5 hours at a time. After about three weeks I had to move
Karen’s cot out to the small bedroom as neither Paschal or I were getting any
sleep. I would sit by her on the spare bed watching to make sure that she did
not suffocate on her own vomit as she tended to vomit during this time. After
the first few weeks I had discovered that holding her did not help her in any
way and so, mostly, I just watched her and changed her sheets again and again.
At her six-week check-up, the paediatrician felt that she might be suffering
from a milk allergy and put her on Soya-bean based milk. He also prescribed
medication for her in order to get her to sleep at night and "cry"
during the day. This medication worked for about three nights and then she just
reverted back to her old pattern. The Soya-bean based milk made no appreciable
difference. This situation persisted until Karen
was about 9 months old. She refused any attempt to give her solid food and,
despite many visits to the local hospital for observation and investigation, no
one could pinpoint what Karen’s problem was. I think some of her visits to the
hospital were more for my benefit than for hers. At this stage, I was back at
work and I was completely worn out due to lack of sleep and worry!! The doctor
told me that she was not normal but could not tell me what was wrong with her.
It was apparent at this stage that Karen’s development was very slow. She was
making no effort to walk and was not terribly interested in what was going on
around her. I changed from full time to part time work because I felt that I
could not cope any longer. Then between 9 months and 12 months
old things seemed to improve slightly. Karen’s sleeping habits improved and I
began to recover somewhat from the previous 9 months. Paschal and I took a
fortnight’s holiday and my sister looked after Karen. This was a holiday that
I was extremely glad to have had because otherwise I do not think I would have
been able to cope with the ensuing months. We had barely returned from holiday
(September 1984) when Karen developed a rectal prolapse. She had been prone to
constipation and had shown a tendency towards prolapse since about six months of
age. However, nothing could have prepared us for this situation. The rectum
would prolapse about 3 inches, then become inflamed, swollen and bleeding. After
the awful shock the first time it happened, I had to learn to cope with it. The
doctors told me it was not causing Karen any pain and that it would correct
itself when she got to 6 or 7 years of age. I was looking at Karen rolling
around the floor in pain knowing there was nothing I could do for her. At this
time, she also became very listless and ill and vomited a lot of what I would
describe as "brown vomit". It was blood stained mucous according to
the doctors but they could not tell me what was causing it even after extensive
investigation in the local hospital. On release from hospital she contracted
chicken pox and was extremely sick for a number of weeks. When she recovered
from this she again suffered with the rectal prolapse and the vomiting. She was
referred to Our Lady’s Hospital in Crumlin for investigation in November
‘84. The surgical team in Crumlin decided that she had in fact got two hernias
rather than one umbilical hernia and that surgery was required straight away.
This was done and Karen was released from the hospital in due course. However,
no explanation for the vomiting had been found and nothing had been done to
correct the rectal prolapse. We had spent weeks in hospital again to no avail.!!
I brought her back to Crumlin for her 6 week check-up after the surgery and when
her clothes were removed she was covered in spots. I brought her home and called
the doctor. Now she had measles - confluent measles as it turned out. She was so
sick that the doctor was afraid to send her to the local hospital in case she
might catch pneumonia because she would not have been strong enough to fight it.
We cared for her at home and she made an extremely slow recovery over Christmas
‘84. At this stage Karen was a year and a
half old. She had had such a hard time since she was born that we felt that we
hardly had time to get to know her as an individual. However, I did know one
thing about her - she had a very loving smile and during the short periods of
time when she was well, that loving personality had shone through. There were
many nights when her little smile had saved her from my wrath - at 5 o’clock
in the morning! The feeding problems, the constipation, the rectal prolapse, the
vomiting all continued over the following months. The rectal prolapse was now so
bad that something had to be done about it. Numerous trips to hospital, both
Ballinasloe and Dublin, followed. Various different methods were tried i.e.
sutures, wires, a course of injections - one a month under general anaesthetic.
Eventually a wire was inserted into Karen’s anal opening in Ballinasloe
hospital and with the aid of copious doses of laxatives each day, this solved
the problem of the rectal prolapse. This, at least, gave both Karen and
ourselves some respite. She still suffered with constipation and at times had to
have "wash-outs" in order to keep the wire in place. In September 1985 Karen had been
assessed by a psychologist with the Brothers of Charity and had been described
as "significantly delayed". After that, a social worker began to call
to the house once a week to work with Karen. I learned what work to do with her
and spent time each afternoon at this. It was terribly frustrating at first
because I was trying to do too much with her. I learned that Karen’s
concentration span was very limited and she could only work for 4-6 minutes at a
time. She had so much to learn! She had been so ill all her life that she had
not picked up the normal things that babies learn. She had to start practically
from scratch. It was all very difficult. Also, she was still only eating baby
food and she was almost 2 and a half at this stage. She had even been force-fed
in Crumlin hospital at one stage but nothing worked. She would just vomit it all
back up. During the Christmas season in 1985,
we took some time out to review Karen’s situation and were very unhappy with
what we saw. This was her third Christmas and she was still suffering. I brought
her back to the local hospital on December 31st 1985 and spoke to her
paediatrician. I told him that we needed to know what was wrong with Karen. We
did not care what we had to do or where we had to bring her. We would have taken
her to Australia if necessary to get some answers. We were suffering
immeasurably looking at her every day not knowing what was wrong with her, if
she was going to live or die, what was next round the corner for us? We had no
answers and could not look forward to any kind of future with her. We were
living from day to day and all of us were beginning to crack under the strain.
Mark, our son, had received very little of his parent’s attention since Karen
was born so he too was suffering. The biggest problem at this stage was that we
could not see what the future was to be. So yet again we were referred back to
Our Lady’s Hospital in Crumlin. We checked in to the hospital in
Crumlin on 19th January 1986. Karen was just 2 years and 5 months old. On Monday
27th January Karen was diagnosed as having Williams Syndrome. A lady doctor sat
me down and gave me the diagnosis. I felt numb. Having waited so long to be told
what was wrong with Karen, I could not take it in when finally it happened. I
suppose I had always had a little hope that whatever was wrong could be fixed by
medication and that I would have the perfect daughter I always wanted. I had not
expected a "syndrome", especially one I had never heard of. The doctor
explained some things about the condition to me. She told me Karen had a heart
murmur, that she was mentally retarded, that her IQ would be about 56 and that
the condition was very rare. She gave me a copy of a page from a textbook with
pictures of Williams Syndrome children. It could only be described as horrible.
I was advised to contact my local mentally handicapped services for support. I
told nobody about the diagnosis until the following Friday when Paschal came to
Dublin to see us. Karen had not yet been released from hospital, as there were
further tests they wanted to do. I brought Karen home eventually.
This homecoming was different to all the others. We now had our answers but what
did they mean? We spent the next couple of months trying to come to terms with
the situation. We tried to comfort each other and I cried a lot, particularly at
night. I had returned to work after we came home from the hospital and during
the day I coped reasonably well. However, the evening times and the nights were
terrible. I suppose we became a little depressed by it all. We did not know
where to turn for information on Williams Syndrome or how to handle the whole
situation. We looked at our beautiful daughter and wondered what her future
would be. Then something happened that brought
me out of my lethargy. My colleagues at work collected money and sent myself and
Karen to Lourdes on a pilgrimage. It was not that I was particularly religious
but the thought that all these people cared enough to do this for us made me
realise that I had to pick myself up and get on with it. When we returned from
Lourdes I set about finding out as much information as I could about Williams
Syndrome. I made contact with one other family who had a WS son through the Gay
Byrne Hour on radio. With help from the personnel manager of the company where I
work, I made contact with a professor in Kentucky, USA who had vast knowledge of
WS. We travelled with the other WS family to meet this professor in London in
September 1986 after lengthy correspondence with him. He had at this stage
confirmed Karen’s diagnosis to me. He spent a lot of time talking to us and
explaining the Williams Syndrome condition. He was very helpful to us and
suggested that, as there were now two families with WS children known to one
another, we should try to set up a support group in Ireland. He felt that there
should be significant numbers of WS individuals in Ireland, probably a lot of
whom were not diagnosed. As a result of what he said that day in London, I took
on the job of setting up the Williams Syndrome Association of Ireland and at the
present time we have an active organisation with approx. 40 member families. I
am sure that there are more WS individuals out there who have not contacted us
or are not even diagnosed. The address and telephone number of the association
is given at the end of this article. Karen is now 14 years of age. She
has a very outgoing personality but does not relate to her peers very well. She
prefers to spend her time on her own. She is a very loving friendly child who
hates people to be upset. She attends a special school for the mentally
handicapped in Athlone and continues to learn and progress. Most WS individuals
have obsessions and her obsessions are mainly with people. The love of her life
is Pat Kenny of RTE. She is now on her second scrapbook of pictures of him! She
has to go for heart check-ups every couple of years although she does not have
the serious heart condition that goes with WS. She has annual checks on her
kidney function that is another area of concern with WS. She loves to swim and
trains with the local Swimming Club two or three times each week. She has
participated in Special Olympics competitions in both swimming and gymnastics
and has represented Galway in swimming in the Community Games competitions in
Mosney. Her life is now very full and, for her, content. Naturally, Paschal and
I have all the worries that go with having a learning disabled child and we are
doing our best to provide for her future. Ann Breen Williams
Syndrome Association of Ireland 13
Kilgarve Park, Ballinasloe
Co.
Galway Tel.
090 9643247 Email
wsai@eircom.net
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Last modified: April 10, 2004 |
