Day to Day Living with two young adults with LMBBS

by Margaret Begley

My name is Margaret Begley; I am married to Terry and we have three children, Michelle, 28, Christopher, 27 and Terry, 24, and four grandchildren. Michelle and Terry both have LMBBS. Michelle was born with two extra fingers; they were only skin, so they tied them and they came off. Michelle was born with both feet turned in and was in plaster until she was about two and a half; she had a lot of operations.

Michelle didn’t like sleeping very much when she was a baby; we’d be lucky if she slept two hours a night, she was always hungry. Except for the night blindness, Michelle hasn’t had a lot of problems with LMBBS. She is a care support worker at a local Hospital; she has been there for ten years. Michelle has a daughter called Victoria, who is nearly six. After Michelle, we had Christopher, no problems at all, and next came Terry. Before Terry was born, we were told that he had cysts on both kidneys. When Terry was born, they took him to the special care unit to check him over and he was nearly two days old before I cuddled him, because I was ill; I had to have a blood transfusion. A student nurse brought Terry to me; she was looking at him and said ‘Oh, I didn’t know he had six fingers and toes.’ I said ‘Neither did we.’ None of the doctors had checked him over. I cried and then thought better to have too many than not enough.

Terry was the image of Michelle. Terry was five days before we went home. He was always hungry and didn’t like sleeping, like his sister. Lucky for us, Christopher enjoyed sleeping. We had to go to Singleton hospital for tests when Terry was six weeks old. The specialist called us into the office and told us that Terry had polycystic kidneys. He said he wouldn’t live past three months. We were so upset and couldn’t stop crying for days. We were then referred to Cardiff Royal Infirmary Hospital. They did a lot of tests on Terry. He stayed in there for two weeks. It was terrible watching him crying, with all the tests he had done. I just wanted to take him home and keep him safe from everyone.

Then, they referred us to Great Ormond Street Hospital. They did tests on Michelle, Christopher and Terry. They told us Michelle and Terry had Laurence-Moon-Bardet-Biedl Syndrome. We just looked at them. What do those words mean? We didn’t know. They told us it affects the eyesight, kidneys, and weight. They were more interested in Terry’s extra fingers and toes. Doctors came from everywhere to look and take photos. They asked if they could put the photos in a medical book, so Terry has famous hands and feet.

After two and a half weeks, we went home. Now we had a name for what Michelle and Terry had but still didn’t know what to expect. The doctors would ask us about it because they hadn’t heard about it. LMBBS had changed our lives. When Terry was eighteen months old, he had his extra digits cut off. He started nursery when he was three. He used to kick and scream because he didn’t like going. Terry could only say ‘mammy’ and ‘daddy’ until he was about five. He makes up for it now. Terry started infants in a special class; he got on well. Then he went into an ordinary class but had one to one support and speech therapy twice a week. Terry did go through a lot of bullying. He had yoghurts poured over him, he was pushed, called names, made fun of, mostly because of his speech and his weight.

Once, Terry went on a school trip. He fell down a very steep bank into a stream. Luckily, it wasn’t very deep. His body was black and blue. We went to the school to see what went on. Even though we informed the school, they didn’t realise how bad Terry’s eyesight was. Terry missed a lot of schooling. He was always in and out of hospital. Anything going around, Terry would get it. When he was seven, he had his tonsils out and grommets put in his ears, but the grommets damaged his ears and so he had to have another operation to repair it.

When Terry was about nine, his Doctor told us about a group of people who had LMBBS, that meet up. He gave us the phone number. As soon as we got home, we phoned the number. Drina Parker answered. She was really friendly and invited us to the day conference in Coventry. We didn’t know what to expect, but at least now we knew we weren’t alone. So we attended our first conference – it was great. We were made so welcome and it was good to meet people who knew what we were going through, because they were as well.

Terry was fifteen when he lost his sight altogether. He had his gall bladder removed but he didn’t want to part with all the gallstones because he’s still got some floating around. Terry never made a lot of friends in school. He played with his brother and sister, and his cousins, but he was much happier playing with his wrestling figures. Me and my husband went through blaming ourselves. I have cried so much in the last twenty-four years – not for me, but for Terry. It has been hard. He has been through so much and is still going through it. Terry loves to talk about his extra fingers and toes. He thought it was great, having more than others. Every year, we look forward to the conference. Terry loves coming to the conference, especially to see Phil, who always gets Terry shouting about Manchester United. No wonder he’s got high blood pressure.

Terry has fallen down the stairs a few times, walked into doors, lamp posts. Terry did have cane training from our house to the shops, but Terry never had the confidence to go out by himself, no matter how hard we tried to get him to. When Terry was at school, one of the teachers, Mr Tanner, took Terry to do the Duke of Edinburgh award. He passed the bronze and silver but had left school before he could do gold. We got him in a few places that did it but they never included Terry. He was always sat in a corner on his own, so Terry never finished it. One year, we came to the conference.

Drina said ‘We were worried about you’, because we were late. It was ten o’clock when we got there. Terry shouted at the top of his voice ‘We had to go back home because my mother forgot her purse and the money.’ Thank you, Terry.

I can’t remember a time when Terry hasn’t been in pain. It has been so hard to watch a child suffering and there’s nothing you can do except cuddle your child and tell him it will get better, but it hasn’t. Terry has been having stents put in his drainage tube from the kidneys. The doctors have been talking about doing an operation, but it is risky. They don’t really want to do it because Terry is so young. Terry’s weight has always been a big problem since he was a baby, but the last eighteen months, Terry has lost over six stone and still losing it. We’re so proud of him. We know how hard it has been for him to give up his favourite foods. If Terry had a life like other people his age, it would have been easier. Terry went to Swansea College for three years and then took a year out to have a rest. Terry now attends Swansea University, doing computer science. The university had a lot of problems, at first, trying to get things right for Terry. In the beginning, I think Terry wanted to give up. He felt they didn’t want him there. He was so sad, that his lip used to quiver because he was so upset, but, now things are being sorted out, Terry is a lot happier there.

Every night, Terry checks the windows and doors are all locked. He comes home from university in a taxi. He gets out by himself, comes down to the house, and lets himself in. Every night, he gets me and his father a cold drink, tells his father all about the news that is going on in the world. Terry is really loud himself, but, if anyone shouts or there are loud noises, he covers his ears and gets upset. He says it hurts his ears.

Terry has always had a lot of temper tantrums; he still has them now. I always worried about Christopher when the children were growing up, because Michelle and Terry needed a lot of my attention. If I could have done anything different, I would have made Terry less dependent on me. I would do everything for Terry, thinking I was helping him, but I haven’t helped him, because I am so worried about what will happen to Terry when I am not here. You’ve got to let go. I never really did. Terry is a happy young man, so loving and caring. He never complains, with all he’s been through. We’re so proud of all our children but especially Terry.

We all love coming to the conference every year.

We learn something new.

Thank you everyone, especially Chris, for all your hard work.