Professor Nigel Heaton, 58, is consultant liver transplant surgeon at King’s College hospital, London. Steven Featley, 19, lives with his parents and sister in Stradbroke, Suffolk. Nigel For 31 years, I’ve been seeing children and adults with liver disease. We’ve transplanted nearly 1,200 children, but Steven is the one who stands out. I’ve known him since he was a baby. He was born with a liver condition, biliary atresia, so was poorly within weeks of birth. The bile ducts in his liver blocked up, so toxins couldn’t be removed or fats digested. There are operations to try to correct this, but most children need a transplant. Steven had his first transplant, from a brain-dead organ donor (a cadaveric), in 1995, when he was 14 months old. Little did I know that was the first of four I was going to conduct on him. Quite soon after, he developed complications, so his mum gave him a fifth of her liver. Everything seemed all right, but a few years later he started to get problems. Another transplant followed. By this stage, Steven had been through such a lot and I started to get worried about how it was all going to end. As a father of four [aged 24, 21, five and three], I’ve become much more emotional about transplanting children. The most difficult time was when we had to decide whether Steven should have a fourth transplant. This was a huge risk. It is rare to have so many; it means the situation is becoming more critical. And what about the patients waiting for their first transplant? How many livers should an individual be given? When do you stop? Is it inevitable he is going to lose the next liver that could help someone else? I had found the problem, though – the outflow of the liver was compromised – so I felt it would be different this time. His prospects were good. I had to convince a team of 25 experts, from surgeons to clinical psychologists, who had mixed views. As for Steven and his family, I’ve always found them realistic and accepting of even the worst things I’ve had to say. Steven is very intelligent and has great insight into his condition. He’s very dry, very funny. He’ll wake up after surgery and say, “I’m still here” or, “You haven’t got rid of me yet.” Steven had to wait about a year to receive his fourth liver, 20 months ago, and the outcome is looking fantastic. He is the healthiest he’s ever been. He is returning to doing normal things and thinking about the future, which he hasn’t really done before. I hope and believe he’s now going to have a fulfilling adult life. That’s my reward. Steven Every time I look at my stomach, I’m reminded of Professor Heaton. I’ve been in his operating theatre about 10 times now – he literally knows me inside and out. I remember when he’d visit the children’s ward, where he’d check how everyone was doing. He’d have to determine who really needed the transplant, who was the most ill. I’ve always had the freedom to talk and voice my concerns. He has a persuasive tone, so no matter what he says, it is going to be all right. I don’t ever question it. I know everything he has done to me has been done in my best interests. Every time I fill in a surgical consent form, it states that there could be complications – one of which could be death. I just say to him, OK, you can try. When other medical staff couldn’t find a solution, Professor Heaton took charge. I wasn’t going to argue – I was just looking for anything. I owe him my life. He’s had to put in a huge amount of hard work to keep me alive. He is amazing – it’s as simple as that. Professor Dian Donnai CBE, 69, is professor of medical genetics at the University of Manchester. Penny Dean OBE, 58, lives in Stockport with her husband, Arthur. She set up the Dwarf Sports Association with him and plays a leading part in the Restricted Growth Association. Dian Penny has achondroplasia, which is the most common type of dwarfism. She calls herself a dwarf, which most people with the condition do. We’ve shared some very sad times over the years, but many happy ones, too. I’ve known Penny and Arthur, who also has the condition, since 1978. They were at a difficult time in their lives because, after years of trying, they’d had a pregnancy, but sadly the baby was born prematurely and died. We met when I’d just started working in genetics, early in my career. I had to interview the couple for an Open University programme. We were all as nervous as each other, so I think they saw a side of me you don’t always see with doctors – the human (and petrified) side, rather than just a professional front. I was impressed by how articulate and open Penny was about the impact of her condition, but also by how so many other aspects of her life were just like everyone else’s. A colleague heard of a baby with achondroplasia, bright as a button, whom the adoption services were struggling to place. I told Penny and Arthur. After the appropriate checks, they were able to adopt Nichola. They are made for each other. Penny and Arthur then conceived another baby, Michael, who also had achondroplasia. He was born with a very small chest, so had trouble breathing from the beginning. He was in hospital for all his 11 months of life. When it became obvious that he was not going to survive, Penny and Arthur were sad beyond belief. They were also coping with Nichola, who was only about four. They asked me to be with them and help when they tried to prepare Nichola for Michael’s death. I felt profoundly sad as a mother, but also sad because I cared about them a great deal. It is the sort of situation that stays with you for years, but I also knew it was part of being their doctor. I made the choice to go to Michael’s funeral. I didn’t want to intrude, but I felt I knew them well enough for it to be appropriate. After losing Michael, Penny and Arthur had a further child with dwarfism, called Kimberley. I remember visiting her in the special-care baby unit. Another doctor came up and said something like, “These people shouldn’t be allowed to have babies.” I remember thinking, “What a terrible thing to say.” These are people just like you or me. They have the same hopes, dreams, ambitions – they just happen to have short bones. But it motivated me to ask Penny if she would help with raising awareness, so she began educating young medical and genetic counselling students about what it’s like living with the condition, and what prejudices she has met. Penny is a powerful advocate for people with small stature, in terms of lobbying, changes in benefits and equality issues. She is also very warm and open, so excels as a supporter of normal-stature parents faced with the birth of a child with achondroplasia. She shows them that life can be very positive. Penny and Arthur later adopted another dwarf called Matthew, who was fit and healthy. Then their daughter Nichola came back into my life after she met her Danish husband, Stefan. They planned a family, but things didn’t go well to start with. Achondroplasia is due to a mistake in the FGFR3 gene. If both parents have the condition, each will have one copy of the gene with the mistake and one normal one. So the child could inherit regular achondroplasia, getting the mistaken gene from one parent or the other; it could be normal stature with both normal genes; or it could inherit two copies of the mistaken gene. This is a lethal condition. Nichola and Stefan sadly lost three pregnancies because of this double dose, but after three years of trying, they gave birth to a little girl called Ava, who has regular achondroplasia. The minute she was born, I went down to the ward. I was included in the family photos, one of which is on my office wall. It was a happy time. This all happened when I’d just had my first grandchild, too. Our lives have been parallel; Penny knows a lot about my life, too, and I feel very fond of her. This is more than your typical doctor-patient relationship, but we are aware of the deal between us, which is honesty and professionalism. There is mutual utmost respect. Last year, Ava had a sister called Eben, who has normal stature, which was quite a shock for everyone. The glory of genetic medicine is the intergenerational contact you have with families. I feel enormously privileged to know Penny and her family. I’ve learned far more from her than I could possibly say. Despite the sadness and prejudice she’s faced, Penny has always been so positive and determined. She’s inspirational. Penny My first impression of Dian was this bubbly, friendly, compassionate doctor. She’d just joined the genetics department and I think we were the first couple she had met with achondroplasia. She became not just a genetic consultant, but also a friend. She listens. The fact that she cares really shines through. We’ve had our highs and lows, and she has stayed calm and treated us with dignity, but at the same time been there to give us a hug. When a tall couple give birth to a small child, it can be life-changing. They worry about what the future may hold for their child. I reassure them and I recommend Dian, because I know through her they will receive the compassion they need. Dian has been on an incredible journey with me and the next two generations of my family, and had an input into my and my husband’s recent OBEs. It is society’s attitude, and sometimes cruelty, towards difference that we have to change. I wish we had many Dians to be there for people in the way she has been there for me. I know one day she will retire, but I’m sure her legacy will live on. David Dunaway and Isobel Flintoff: ‘By three months, Isobel was in trouble and we were forced to consider a groundbreaking procedure. I had a heartstopping feeling of, can we do this? Are we doing the right thing?’ Photograph: Zed Nelson/Guardian David Dunaway, 58, is a consultant plastic and reconstructive surgeon, and leads the craniofacial unit at Great Ormond Street hospital, London. Isobel Flintoff, nine, lives in Kirkbymoorside, North Yorkshire, with her parents and older sister. David You build a bond with children you see a lot, with whom you’ve gone through difficult times. Isobel was one of the most severely affected babies I’d seen with Pfeiffer syndrome. The condition is caused by a premature fusion of the bones in the skull and face. Isobel’s skull was quite deformed, so there were big problems with the way her face was developing. Her eyes weren’t protected and she couldn’t breathe well. Inside her skull, there wasn’t room for her brain to grow properly. She also had hydrocephalus – fluid on the brain. By the age of three months, Isobel was clearly in trouble and my team and I were forced to consider a procedure that was groundbreaking – an operation that would make her head bigger, increase the size of her eye sockets so her eyes would be protected, and bring her face forward to improve her breathing and feeding. It is something I’d done on much older children, but never on an infant, and I had a heartstopping feeling of, “Can we do this? Are we doing the right thing?” The procedure causes quite a lot of blood loss and it relies upon the rigidity of the bones in the skull, but in a three-month-old baby the bones are very pliable. It was risky for a child of her age, but the neurosurgeon, Professor Richard Hayward, and I decided it was the only option. The operation involves an incision across the top of the head, so we can peel down the skin of the forehead. Basically, we then take off the front of the skull to provide access to the face, and divide the bones of the face from the rest of the skull. The forehead is put back on and a metal frame placed on the outside, for about three months, gradually stretching the face forward. There was a massive feeling of relief when the operation was successful. It completely transformed Isobel’s health in early life. Even as a young infant, she was very charming and a great character; as soon as she could speak, she spoke her mind. When she was young, she often came to see me in my office. She thought I lived here, so would always want to make me a cup of tea. Her outlook on the world is different from ours, but she is very endearing and people warm to her. She features prominently on our wall of photographs of craniofacial patients. She’s there as a bridesmaid, with her pony, at parties. Every time I see her at the clinic – at least three or four times a year – she’s achieved something else. I have a great fondness for Isobel – we’ve always got on very well and she calls me Dave now. She’s had lots of tough times, with pressure in her head, breathing problems and chest infections, but she keeps coming out of them and doing better. She is a very determined person, who has borne her difficulties with courage. It’s a huge credit to her and has contributed massively to her treatment, as have her parents. They are devoted to her and do everything to make sure she gets the best out of life; they are always pushing her forward. I have three grown-up children – 28, 26 and 24 – and I’m not sure how I’d have managed. The amount of input and heartache that must go into supporting your child through something like this is unimaginable to most of us. Kirsty Flintoff, Isobel’s mother There is such a good connection between Isobel and Mr Dunaway, he feels like a second family. He is such a lovely man, you just want to hug him. When we go to hospital, Isobel is always wary of people, because she is only little and has had so many procedures, but she responds really well to him. It’s great to watch his interaction with her. He’ll sit on the bed and chat away, putting her at ease, and the bond she has with him means she trusts him. She understands he has made her head better. I feel emotional talking about him as I trust him with the most precious thing ever. Professor Ian Smith, Charlotte Kitchen and her daughter, Erin: ‘As I was telling her this really difficult news, her partner started to feel unwell, so we had to lay him on the floor with his legs up. It would have been funny if it wasn’t so harrowing.’ Photograph: Zed Nelson/Guardian Professor Ian Smith, 65, is head of the breast unit at the Royal Marsden hospital, London. Charlotte Kitchen, 38, lives in Reigate, Surrey, with her husband, Graeme, and their three-year-old daughter, Erin. Ian If you met Charlotte in the street, you wouldn’t think there was anything wrong with her. She lives a very active life, with a young child. We met in November 2010. In all my years of looking after patients, it is the most emotionally traumatic consultation I can remember. Charlotte, then 34 and 24 weeks pregnant, had not only just been diagnosed as having breast cancer, which occasionally happens in pregnancy, but further tests showed the disease had spread to the bones, particularly in her back. Usually when someone comes to see me, the breast cancer is in the early stages and much easier to treat. I was struck by how incredibly young she looked. She knew she had breast cancer, but didn’t know it had spread. I had to tell her this really difficult news, but I was so shocked and upset for her, it was hard for me. During the conversation, her partner, Graeme, started to feel unwell and couldn’t breathe properly, so we had to lay him on the floor with his legs up. I said, “This is ridiculous – I can’t talk to you with him on the floor like that”, but he said, “No, carry on, I’m all right down here.” It would have been funny if it wasn’t so harrowing. Charlotte was the most emotionally controlled person in the room; even the nurse had tears in her eyes. She wanted to hear all the details, then simply said, “What are we going to do about it?” The plan included a new, very active drug called herceptin. Charlotte had one important lucky break. The cancer she had was very aggressive, but it carried a special marker called HER2. About 20% of breast cancers carry this and it means the new antibody treatment can work very well. The problem was, we couldn’t give Charlotte herceptin then, or radiotherapy for her back, because it could have harmed the baby. We could give her only a little bit of the correct treatment. It was like a holding operation until after the baby could be delivered, about 10 weeks later. During this early period, the most striking thing was that Charlotte remained amazingly calm. Terrible things were happening to her and her view was, we’ve just got to get on with it. She never challenged anything. She did really well and the disease went into remission. Everything was fine for seven or eight months, then it started coming back, so we had to change her treatment. Over the last three years, from time to time, the disease has come back. But we’ve been lucky in that every time, new drugs have been available. So the disease has gone into remission again. Charlotte has this amazing courage and optimism. There’s an unsaid understanding between us that what she has is serious, but there is plenty we can do. We are now approaching the fourth year. And the good news is, there’s another really good drug on the shelf, if she needs it in the future. At the clinic, I look down my list to see who the next patient is. My heart lifts when I see her name because I think, “Great, it’s going to be an upbeat consultation, even if things haven’t been going well.” Charlotte and Graeme are a funny couple, so we spend a lot of time laughing and joking. He is the most devoted and supportive husband I know. He comes rushing into appointments with his cycle helmet on and fold-up bike. Charlotte’s spirit is helping her have a good life. It would have been easy for her to feel miserable and sorry for herself, but she doesn’t. She makes my job worthwhile. Charlotte I left my office, where I worked full-time in HR, to go for a check-up at the hospital, and I never went back. There had been changes in my breast, with the tissue thickening, then turning red and inflamed, but I had no idea it could be cancer. I was immediately referred to Professor Smith. I had never met this man before, and suddenly he was responsible for keeping me alive and my unborn baby safe and healthy. Graeme and I were in complete shock. Erin, who was born by caesarean at 37 weeks, is healthy and so special. She takes my mind off things. It is tough looking after a little one when you are so ill, but it forces me to get on with my life. I feel very fortunate to have Professor Smith looking after me. I’m quite a sceptical person, so find it hard to trust people, but I trust him with my life. He never hesitates or waffles. His confident steer on things is immensely reassuring, but he doesn’t give me false hope. My life can suddenly switch from enjoying time with my family one day to finding a new lump the next. I quickly become anxious and terrified. Professor Smith gets what it’s like to be in my shoes, and I really feel he cares for me. I’m not just another number on his list. He is the most important man in my life, after my husband and dad. He’s remarkable. source
