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Josephine’s story: My son and ataxia telangiectasia

The long wait for diagnosis of this autosomal recessive condition.

This story tells us how Josephine and her son have coped with A-T, a rare, neurodegenerative autosomal recessive condition. It took a long time to receive a diagnosis and as Josephine says – that in itself led to mixed feelings.

Toolkit

  • reflection Point for reflection

    1. Josephine has said that healthcare professionals have been ‘helpful, but puzzled’ due to unfamiliarity of the condition. If you had a patient with a rare condition, how would you help yourself and colleagues to learn more about the condition?
    2. Who would you talk to?
    3. Where would you look for information?
  • Activities Activities

    Would you ask the patient and the family if they could give you helpful information?

  • quotes Quotes to reflect upon

    "The needs of someone with a progressive condition change with time and the providers of equipment (Social Services & co) need to be aware of this."

    "Often the waiting time to get something done is excessive, causing undue risk of injury and loss of dignity in some cases."

    "At the end of a fortnight I was told that my son had Ataxia-Telangiectasia (A-T) and that the outlook was not good. On hearing this, and after some explanation of the condition, I remember feeling shock, sadness, and yet at the same time relief that after 24 years we had been given a definite diagnosis."

  • Further Information Further Information

How does this story relate to professional practice?

  • 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]

    Ataxia Telangiectasia (A-T) is a rare condition. Although through your career you may be very unlikely to come across a patient with this condition, you are likely to come across a rare or unusual condition. It is important for all health professionals be familiar with methods and sources of learning about unfamiliar conditions (NCG 7).

    Although it took many years before the family received a confirmed diagnosis of A-T, when it finally arrived, it seemed to give mixed reactions. From this story we learn of both the relief at a final diagnosis, which can help to classify the needs of the individual, particularly for management, treatment and social care issues, whilst the shock of a definite answer and known outcome, particularly for a progressive condition as A-T. NCG 5 directs us to understand both the benefits and limitations of genetic testing and information and the physical and psychosocial consequences that this information can have on individuals and families.

  • 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

    On receiving a genetic diagnosis, patients and families can often experience mixed emotions (GP-8d). Here, Josephine talks about her own feelings of ‘shock, sadness, and yet at the same time relief that after 24 years we had been given a definite diagnosis’. This also reminds us of the impact genetic information has not only on the patient but also on their family (GP-2c).

    As Josephine points out, the needs of someone with a progressive condition change with time and she feels healthcare providers need to be more aware of this. From a primary care perspective, GPs have an important role to play in coordinating care with other appropriate health professionals in order to deliver effective patient care (GP-1h). Furthermore, this coordinated approach to care is likely to need to be adapted over time, particularly with someone with a progressive condition.

    Josephine talks about the negative social impact her son’s condition has had on their family in terms of not being able to do things others take for granted, but is also keen to point out the positive consequences also, referring to the ‘many lovely and interesting’ people the family have met and the projects and activities they have become involved in (GP-6b).

  • 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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