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Family life with Tuberous Sclerosis: Karen’s story

A mother’s account of some of the challenges associated with this autosomal dominant condition.videoexpert

Karen is a mother with two young children, James 7 and Chloe 2. Karen has tuberous sclerosis, a rare condition which causes tumours to grow in parts of the body such as the brain and the vital organs. TS is an autosomal dominant condition. Both James and Chloe are affected by TS. Whilst Karen may be mildly affected by TS, her children are more severely affected. Here, Karen describes how they found out about TS in her family and tells how is affects her family life and daily life. Karen’s husband, Mark tells his story in 031.

Toolkit

  • reflection Point for reflection

    1. This story describes numerous visits to hospitals for procedures and clinics. Karen describes a scenario of meeting the clinical staff beforehand to discuss management and special needs issues. Do you think this is a good idea?
    2. Discuss what could be covered in such talks and how your role in this could make a positive difference to the hospital visit

     

  • Activities Activities

    1. How would you manage the episodes of epilepsy?
    2. How would you manage the ADHD and autism?
  • quotes Quotes to reflect upon

    "We don’t have a normal family."

    "We are just totally and utterly focused around the children, which most families are I know, but every minute of every day."

    "I feel because I’ve got the condition, sometimes I think it’s my fault the children are like they are, you know. Perhaps I shouldn’t have had them, but didn’t know enough about it then and you can go on and on and on in hindsight."

    "...this is the girl who struggled at school, who was shy, wouldn’t speak out - stood there and lectured these seven doctors on this condition and I was very proud of myself but those sort of things worry me."

  • Further Information Further Information

How does this story relate to professional practice?

Personal Practice - Karens Story

  • cogs Nursing Competencies

    [We have linked this story to the Nursing Competences in Genetics (NCG) for nurses, midwives and health visitors. Further information on the competence frameworks can be found here]

    Karen’s experience relating to TS only came about following her niece and consequently her sister’s diagnosis of the condition. Following on from this, both of Karen’s children received clinical care and information from the genetics service, this included prenatal testing and counselling. Healthcare professionals involved with Karen demonstrated NCG 1 which is about identifying clients who might benefit from genetic services and information, and the importance of family history to assess an individual’s predisposition to a condition.

    Although Karen was able to have a prenatal test for her second child (Chloe), her decisions were based, on the information and experience known to her at that time – which was that her own TS was ‘mild’ and also that her son’s development seemed unaffected at this time. This highlights that whilst a genetic test can provide some information (e.g. affected / unaffected), the information is limited (NCG 5). For example, it does not provide any indication of how severely an individual might be affected.

    This account also reminds us that clients have the right to make informed decisions and take voluntary action (NCG 3). Much of Karen’s decisions relating to continuing the pregnancy were related to her own experiences, values and personal beliefs.

  • cogs Midwifery Competencies

    Content relating to the midwifery competencies in genetics will appear here shortly.

  • cogs Learning Outcomes for GPs

    We have linked this story to the learning outcomes for GPs listed in the Royal College of General Practitioners Curriculum Statement 6 ‘Genetics in Primary Care’, which describes the knowledge, skills and attitudes that a GP requires when relating to patients and families with genetic conditions. Further information on these learning outcomes can be found at: www.rcgp-curriculum.org.uk/PDF/curr_6_Genetics_in_Primary_Care.pdf

    Once TS had been diagnosed in Karen’s nephew, the family were referred to genetics services for testing. Karen was subsequently diagnosed with TS as was her son. She received further support and counselling from genetics services whilst pregnant with the second child. Here, the healthcare professionals were able to identify that Karen’s family would benefit from the help of genetics services and made the appropriate referrals to facilitate this (GP-1g).

    Karen decided to undergo amniocentesis and further tests to determine whether her second child was affected. She made an informed decision to continue with the pregnancy based on her knowledge and experiences of TS at that time. Should someone like Karen wish to extend their family, they might benefit from receiving information regarding their reproductive options, allowing them to make an informed choices (GP-4d).

    Karen’s story provides a good example of how genetic conditions can be heterogeneous (GP-3d). In Karen’s case, she was not aware of her TS until she was diagnosed and had relatively mild symptoms. Furthermore, the way in which TS has affected her two children is markedly different. Her son is autistic, epileptic and has ADHD along with learning and speech difficulties whilst her daughter had almost constant seizures from birth and has complications as a result of the brain surgery she underwent to alleviate this.

    It is clear from Karen’s story of the effect TS has had on her family’s lives (GP-6b). Karen describes how it has affected the practicalities of the family’s everyday life and discusses the way it has affected her marriage and her husband’s work. Karen also talks about the feelings of guilt she has at passing the condition on to her children (GP-8d). This is also mirrored in her own mother’s feelings. Karen says, ‘Because I’ve got the condition, sometimes I think it’s my fault the children are like they are’. She goes on to say, ‘You can’t think about it like that because you can go round and round in circles but it has affected the whole family’.

  • cogs Learning Outcomes for Medical Students

    Content relating to the learning outcomes in genetics for medical students will appear here shortly.

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