Many of those who feel like Julia dread the day they come of age. Many describe it as a difficult transition. The follow-up from the paediatricians ends, and there is no automatic follow-up. Julia dreads this day. She has Turner syndrome and needs follow-up from a doctor. Julia often walks with her dog Sindy. Photo: Marit Sirum-Eikre / news Most GPs know little or nothing about her diagnosis. – I see others and compare myself to them. She wished she was taller and thinner. She is 148 cm tall and knows that she will not grow any more. She also has to live with the low metabolism. Already early in childhood, it was clear that Julia was much shorter than her friends. You could see early on that Julia grew later than her friends. Here she is approx. five years old and together with her friend Bertine of the same age. Photo: Private – I remember when I was little. I thought it was unfair that I was the only one with a diagnosis. She talks about the disease, or the syndrome, which only affects women. – It’s a syndrome that means you don’t grow as fast as others. Julia in the kitchen with her mother Janne. Photo: Marit Sirum-Eikre / news From the age of four until she was 16, she received daily injections of growth hormone to grow. Most girls with Turner syndrome receive such treatment. – I can also get lifestyle diseases more easily. She also did not reach puberty like other girls and had to receive hormone treatment. Have to educate the doctors – When I say that Julia has Turner’s syndrome, they don’t know what it is. Janne Hausberg says that the meeting with the healthcare system has not always been easy. Photo: Stian Sørum Røkenes / news Julia’s mother, Janne Hausberg, talks about general practitioners she has met. – I have to explain to them what it is, and it is not quite right. You feel you are not getting help. Julia has a lot of support in her mother Janne. Photo: Marit Sirum-Eikre / news Turner’s Syndrome Turner’s syndrome only occurs in girls and women. It is a congenital condition characterized by short stature and lack of pubertal development. While women usually have two sex chromosomes (X chromosomes), girls with Turner syndrome are missing all or part of one X chromosome. In most people, this leads to short stature and puberty not starting on its own. Some physical features are repeated, for example heart, blood vessel and kidney malformations are more frequent than in the rest of the population. Heart defects are common. Hearing loss after many ear infections is also common. Mental development is normal, but some have specific learning difficulties and ADHD/ADD. Most people with Turner syndrome are treated with growth hormone when growing up. Around 15 girls are born with Turner’s Syndrome each year in Norway. Source: Frambu competence center for rare diagnoses. Julia goes to high school and works a lot with the school. She enjoys herself, but finds mathematics difficult. Julia Hausberg goes to high school and does a lot of homework. Photo: Marit Sirum-Eikre / news – I have always struggled with that. It is something that is common for gymnast girls. Around 15 girls are born with Turner syndrome in Norway each year. Life-threatening conditions can occur. Women with Turner syndrome often have heart defects, hearing problems and malformations in the kidneys and urinary tract. It can have serious consequences if they don’t get the right treatment. David K. Bergsaker, senior physician at the Frambu competence center for rare diagnoses, has met many parents who tell of doctors who do not understand. David K. Bergsaker, senior physician, Frambu competence center for rare diagnoses. Photo: Alem Zebic / news – GPs don’t know enough. There are many people with Turners who have to give information about what they actually have to their GPs. He believes that doctors who receive patients with rare diagnoses must understand the patients’ suffering. .- What could be the consequence if they do not receive good enough treatment? – The problems are increasing, things can be telling, even life-threatening conditions. Bergsaker tells about serious heart defects that are common in girls with Turner’s, about heart valves that do not develop and about sudden death that can occur. – Falling between two chairs Several say that the transition from child to adult is demanding. Johanna Mindaas, head of Turner Syndrome Association Norway. Photo: Marit Sirum-Eikre / news – Our members report that they fall between two chairs in the transition from the children’s ward to the adult ward. There are also large variations in the follow-up around the warehouse. That’s what Johanna Mindaas, who heads the Turner Syndrome Association of Norway, says. She believes that more people should have been referred to the specialist health service further. Today, many are left to the GP when they turn 18. – You are left to fend for yourself. There should have been automaticity in the transition and clearer guidelines, says Mindaas. Julia Hausberg’s difficult transition has been followed up at the children’s ward at Haukeland University Hospital. The family praises the hospital, but now she only has one check-up left before she goes to the women’s ward. She dreads that. At home in Austevoll outside Bergen, Julia looks out at the sea right outside the living room window. Photo: Marit Sirum-Eikre / news – What is the difference in how children with Turner’s are followed up – and adults, i.e. women over 18? Eirin Helland, senior physician at the Women’s Department, Haukeland University Hospital. Photo: Eirin Helland / Lumitane photography – Most people with Turner syndrome are diagnosed and followed up from childhood. The treatment can be growth hormones and eventually hormones that start the development of puberty. This treatment is followed closely during childhood and adolescence. Adults must also be followed up with checks that are set up according to individual risk. That’s what Agnethe Lund, senior physician at the Women’s Clinic at Haukeland University Hospital writes in an e-mail to news. – The need for health care varies widely, some are well taken care of with an annual check-up with a GP and specialist follow-up every two to five years. Other women need more frequent assessment by various specialists in hospitals. – Is it true that the follow-up becomes less frequent when they become adults, and more up to the person who has the diagnosis themselves? – It is true that the treatment plan is usually more established for adults, and that the need for checks when you have fully grown and gone through puberty is not as great as with children and young people. But this is individual, and we know that there is a risk that women in the transition from youth to adulthood will fall out of the system. The GPs will be connected before GPs also talk about challenges with the transition from child to adult. The GPs would like to be connected earlier, says Marte Kvittum Tangen, who heads the Norwegian Association for General Medicine. Photo: Peder Bergholt / news – I have experience that children with rare diseases are very often followed up closely by the specialist health service, and when the child becomes a teenager and turns 18 they are suddenly transferred to the GP, says Marte Kvittum Tangen, head of the Norwegian Association for General Medicine. She says that they have discussed this with the paediatricians. – Are GPs too little connected to children with rare diseases? – Yes, we would have had much better transitions if we had collaborated more closely earlier and throughout the race. Perhaps you can share controls and be more careful about writing good information to each other. – Who should connect the GP earlier? – I think that the specialist health service must also take responsibility. We must find new and better models for how we can work together. The future is coming soon Julia knows very well what it’s like to be alone in the school yard and not be invited to birthday parties like the other children. At home in Austevoll outside Bergen, it is not far from the sea. Photo: Marit Sirum-Eikre / news – I feel that I have grown a little on that. She has always been open about the fact that she is a little different. – It has made me a little stronger in a way, she says. Mamma Janne Hausberg does not want to think about everything that may come. – I have found that we just have to take it as it comes. Otherwise we become nervous and afraid.
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Fearing the 18th birthday – then many like her fall outside – news Norway – Overview of news from different parts of the country
