It was awful not knowing what the problem was

 

MY HEALTH EXPERIENCE:It took three years to find out our daughter had Williams syndrome, writes ANN BREEN

THE LOWEST POINT of my life was the day I had to watch my baby daughter rolling around on the floor of the livingroom in pain and knowing that there was no point in picking up the phone because nobody would listen.

We had already been to the most eminent doctors in the country and they told us she wasn’t in pain, yet she so obviously was. We had no idea what we were dealing with and that was the worst part of the early years of her life.

Karen was born on August 19th, 1983, at Portiuncula Hospital, Ballinasloe, after a normal pregnancy. My late husband Paschal and I were thrilled that the baby was a girl, as we already had a boy of two-and-a-half called Mark.

As an infant, Karen had difficulty in feeding and keeping her bottle down. She began to suffer what we thought was colic, crying for three to five hours at a time during the night. This persisted until she was about nine months old. She refused solid food and, despite many visits to the local hospital for observation and investigation, no one could pinpoint what her problem was.

It was also 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. Then, she developed a rectal prolapse. After the awful shock the first time it happened, I had to learn to cope with it. This was when the doctors told me it was not causing Karen any pain and that it would correct itself when she got older.

She was referred to Our Lady’s Hospital in Crumlin for investigation in November 1984. While there, she had surgery on two hernias. 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 when she was well, that loving personality shone through. There were many times when her little smile had saved her from my wrath at five 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. Eventually, a wire was inserted into her anal opening. This, with the aid of copious doses of laxatives each day, solved the problem, giving both Karen and ourselves some respite.

Karen was assessed by a psychologist with the Brothers of Charity and described as “significantly delayed”. She had been so ill all her life that she had not picked up the normal things babies learn. She had to start practically from scratch. Also, she was still only eating baby food at almost two-and-a-half.

By Christmas 1985, she was still suffering. I brought her back to the local hospital on December 31st, 1985, and told the paediatrician we needed to know what was wrong with Karen. It was awful not knowing what the problem was, if she was going to live or die, what was round the corner for us. 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 parents’ attention since Karen was born, so he too was suffering. Yet again we were referred back to Our Lady’s Hospital in Crumlin.

On 27th January, 1986, Karen was diagnosed as having Williams syndrome. I felt numb. Having waited so long to be told, I could not take it in when finally it happened. I suppose I had always hoped that whatever it was could be fixed by medication. I had not expected a “syndrome”, especially one I had never heard of. Paschal and I spent the next couple of months trying to come to terms with the situation. We did not know where to turn for information on Williams syndrome. We looked at our beautiful daughter and wondered what her future would be.

Then something brought me out of my lethargy. My colleagues at work collected money and sent me and Karen to Lourdes on a pilgrimage. When we returned, I set about finding out as much 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. I also contacted a professor in Kentucky, in the US, who had an in-depth knowledge of WS and who spent a lot of time talking to us and explaining the condition.

I set up a support group for other WS families, the Williams Syndrome Association of Ireland, which became a registered charity. The group has since taken up a huge part of my life.

Karen attended St Hilda’s Special School in Athlone until she was 18 when she moved onto the Brothers of Charity Services in Ballinasloe. As she grew, she developed a friendly personality but did not relate to her peers very well and was always a loner. Like most WS individuals, she has obsessions.

When she was 14, Pat Kenny of RTÉ was the love of her life. Music is her big love now: she plays the keyboard and listens to everything from Westlife to Imelda May. For six summers, we went to a week-long music camp in the US and started our own camp in Ireland in 2001. We also went to the European Special Olympics in Holland in 2000 where Karen won medals for swimming. These are only some of the things she brought to our lives.

Karen is now 27. She will never be able to live independently of me or a carer and will never be able to get a job. You have to be fairly strong-minded to deal with the idea that you will have somebody dependant on you forever. When you have a child with a disability, you never get away from it. It’s the first thing you think about in the morning and the last thing at night. It’s an awful responsibility.

Since Paschal passed away in 2008, that has rested solely on my shoulders. The law of averages says I’ll be gone before her. I know Mark will always look out for Karen, but he works in Dublin and has his own life. He can’t be expected to look after her for the rest of her days: there will have to be some other arrangement in place after I’m gone.

On a more positive note, Karen has brought so much to our lives.

In conversation with Michelle McDonagh

WILLIAMS SYNDROME: WHAT IS IT?

Williams syndrome (WS) is a rare genetic condition estimated to occur in 1/20,000 births which causes medical and developmental problems. It is present at birth, and affects males and females equally. It can occur in all ethnic groups and has been identified in countries throughout the world.

Most young children with WS have similar facial features, which tend to include a small upturned nose, wide mouth, full lips, small chin, and puffiness around the eyes.

Other common features of WS are heart and blood vessel problems, feeding difficulties and irritability during infancy, kidney abnormalities, hernias, musculoskeletal problems and developmental delay/learning disabilities.

Most individuals with WS are missing genetic material on chromosome 7, which may be the cause of medical and developmental problems. A person with WS has a 50 per cent chance of passing the disorder on to each of his or her children.

The Williams Syndrome Association of Ireland (WSAI) provides members with support through annual conferences, social gatherings and regular newsletters. It also works to make the medical profession more aware of Williams syndrome. To receive membership information and an information pack, contact Williams Syndrome Association of Ireland, 13 Kilgarve Park, Ballinasloe, Co Galway, tel: 090-9643247, wsai.ie, or e-mail wsai@eircom.net.