Williams Syndrome Association Ireland

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