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Points for Reflection

1. Jenny says “I have grown up in a family where diabetes is rife – at one stage 9 out of 11 living family members had it... I cannot remember a time in my life when I did not expect to get it myself – right from early childhood I felt that I was waiting for it”. Consider what it must be like for someone to live with the expectation, or knowledge, that they will go on to develop a genetic condition. Think about the psychological impact this could have on an individual.

2. Jenny reflects on two very different experiences with regard to the management of her MODY and FSH. Read through her story again and consider why her experiences might have differed and, from a healthcare perspective, the factors that might have influenced these experiences.

Activities

1. Using the information on the Dibaetesgenes.org website (http://projects.exeter.ac.uk/diabetesgenes/index.htm), find out the following:

• What is the pattern of inheritance for MODY and what is the chance of passing the condition on to a child?

• What are the different types of MODY?

• What are the guidelines for diagnostic genetic testing in MODY and what does the test involve?

2. Using the resources signposted in the further information section, find out:

• What are the clinical features of FSH?

• What is the inheritance pattern of FSH? How else can FSH occur genetically?

• What are some of the management and treatment options for someone with FSH?

3. Jenny says “for MODY I am supposed to watch my carbohydrate intake and exercise to keep my blood sugar down, but the advice for FSH is to eat plenty of carbs for energy and rest to preserve my muscles……the speech therapist came because of swallowing problems with FSH and wanted to teach me how to eat biscuits and told me to put custard or sauces on everything and to eat things like puddings, all of which are unsuitable for a diabetic diet…..she could not adjust her information on swallowing to a diabetic diet”.

• Read the dietetics reference guide and patient scenario on Genetics and rare forms of diabetes factsheet on the NGEDC’s website: http://www.geneticseducation.nhs.uk/media/32892/rare_forms_of_diabetes_factsheet.pdf)

• As a dietitian involved in the clinical management of someone like Jenny, how might you be able to adapt the dietary guidelines for MODY to someone with FSH?

• In a situation such as this, how might the speech therapist have been able to help Jenny further?

4. Read the following sources of information and using these, along with Jenny’s story, debate in your group the ethical issues surrounding the genetic testing of children:

• Predictive testing in MODY (http://projects.exeter.ac.uk/diabetesgenes/index.htm)

• The Genetic Testing of Children report on the British Society for Human Genetics website ( http://www.bshg.org.uk/documents/official_docs/testchil.htm)

• Charlotte’s story on cerebellar ataxia (http://www.tellingstories.nhs.uk/stories.asp?id=55)

5. Jenny describes some of the issues that arise as a result of her combined medication for FSH and MODY, saying “the drug of choice to manage muscle spasms in FSH has the side effect of raising blood sugar levels which is bad for MODY”.This provides an example of how drug-drug interactions can occur when an individual is treated with several therapeutic agents. Read the NGEDC’s series of factsheets on The Genomic Basis of Therapeutics (http://www.geneticseducation.nhs.uk/media/31685/the%20genomics%20basis%20of%20therapeutics%20series.pdf) to find out more about the basic concepts of pharmacogenetics.

6. Jenny’s teenage son was originally misdiagnosed with Type 1 diabetes and she says “It was as if they had a plan of care for a teenager who presented with some symptoms, but wouldn’t deviate from it or think out of the box”.

• Devise a care plan for a teenager with MODY, incorporating a transition care plan from children’s to adult’s services.

7. Jenny’s story reflects the positive relationship she and the family have with their GP.

• Re-read the story, identifying the quotes that highlight this. • What qualities or skills do you think Jenny’s GP has that contribute to this?

• As a GP, do you feel that these qualities and skills are reflected in your own practice?

8. Read the following three quotes taken from Jenny’s story and compare and contrast the genetic testing, particularly of children, in these two different circumstances.

• “The MODY Specialist Nurse…. Wouldn’t take blood from our youngest son until he was 16. I feel this was wrong – it left him as the only member of the family wondering whether he had MODY and he wanted to be tested at the same time as his sister”.

• “None of them want to be tested for FSH…..the children say it is because there is no treatment available and a positive diagnosis could have a much more major effect on their lives than MODY would…… they have seen me get more and more disabled and although no one can predict the course or severity of the disease in each individual, they don’t want to live with the fear that my degree of disability may happen to them”.

• “The thing about genetic testing is once you know the result, you can’t un-know it”.

9. Jenny says “The diabetes nurse specialist rang a few times….she was very apologetic and said lessons were being learned, and we only hope they were”. Her story highlights several instances where lessons can be learned in order to improve practice. Read Jenny’s story again:

• Identify two examples that highlight negative aspects of healthcare practice. What would need to be done to address these issues and ensure lessons had been learned?

• Identify two examples that highlight positive aspects of healthcare practice.

Quotes
Role of specialist healthcare professionals:

“The doctors first looking after our son when he was diagnosed with Type 1 were given a family tree and further copies were given at clinic appointments. They were not interested, and the consultant even wrote a letter to the Diabetes Nurse Specialist saying we didn’t have a genetic form of diabetes because of my age at diagnosis. On the other hand, the Exeter team wanted to know as much family history as possible”.

“We are fully supported as a family by the (MODY) Exeter team. We can phone or email for a chat or advice whenever we want or need to. They will liaise with our GP about medication etc. and are always there for us”.

Support in primary care:

“We are very lucky in that we have the most excellent GP that there is….when I went to see him, he had researched FSH, printed off information sheets and was ready for me”.

“My son is now solely cared for by our GP…. he won’t go to Diabetic Clinic as he doesn’t believe a word anyone there says, and why should he? The consultant wouldn’t listen to us and left him to become more and more ill”

“It appears that information, especially about genetic conditions, is not always very forthcoming. If there is anything I want to know now, I ask my GP, and if he doesn’t know then he will find out. He did not know anything about MODY, but once my son and I were diagnosed with it he too found out everything he could about it and has now taken on our routine diabetic care”.

Impact on the individual and their family:

“I have, as one consultant put it, the ‘double whammy’ of having inherited 2 genetic diseases, one from each parent”.

“I have grown up in a family where diabetes is rife…. I cannot remember a time in my life when I did not expect to get it myself – right from early childhood I felt that I was waiting for it”.

“At last I had an explanation for all the diabetes in the family, and we could start on the correct treatment. It did, however, confirm that I had passed on a disease to my son, which was quite hard to bear until a friend said to me ‘but you have given him so much more’. Those few words helped me enormously”.

“Having these conditions has not made me change any life choices – they have been changed for me”.

“Whatever happens you will still be you, possibly with a condition, but never a condition with just a tiny bit of you left. You will have the same likes, dislikes, dreams and hopes when you leave the consulting room as when you went in – they may feel buried for a while, but they will still be there”.

Ethical considerations:

“The MODY Specialist Nurse…. wouldn’t take blood from our youngest son until he was 16. I feel this was wrong – it left him as the only member of the family wondering whether he had MODY and he wanted to be tested at the same time as his sister”.

“The thing about genetic testing is once you know the result, you can’t un-know it”.

Knowledge and attitudes:

“I was talked over whilst I was lying in bed, and they obviously knew nothing about me but did not want to admit their ignorance. Eventually I said ‘I know I am only the patient lying in bed in the middle of you, but I still have a brain’.

“I was shown to a bed by a healthcare assistant and told to ‘hop in’. Obviously I could not”

“If I could finish with a last note to any healthcare professionals….if you meet me, or someone similar to me, and haven’t heard of my diseases, it is OK to tell me that these are new to you and you are going to have to go and ask someone for advice…I would think much more of you and that you were giving me a higher standard of care than if you carried on treating me, pretending you knew all about my conditions, when it was obvious you hadn’t got a clue”.

Further information
Location: The Stories
‘Whatever happens, you will still be you’
Living with two genetic conditions, facioscapulohumeral muscular dystrophy and maturity onset diabetes of the young - Jenny’s story

Jenny describes her personal, and often contrasting, experiences of living with two genetics conditions, facioscapulohumeral (FSH) muscular dystrophy and maturity onset diabetes of the young (MODY). Her story highlights both positive and negative examples of healthcare practice, and how these have influenced her experiences. She also discusses how the conditions have impacted on her life and that of her family’s.

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   How does this story relate to professional practice?

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

This is a lengthy and complex story focussing on the impact of two inherited conditions on Jenny and her family. Not surprisingly, all eight competences can be mapped to this story. Some examples are highlighted below:

Jenny explains how the MODY specialist team “wanted to know as much family history as possible”, and were able to use this information to help establish a diagnosis (NCG 1). In contrast, the healthcare professionals at the diabetes clinic failed to recognise the importance of family history in identifying that Jenny and her son might have a genetic condition and Jenny says “our son had become more and more unwell on insulin and we asked at every clinic visit for him to be genetically tested. We kept showing our family tree…our consultant and diabetes nurse specialist, whom we also saw very regularly, repeatedly refused our requests”.

This above paragraph also highlights the importance of healthcare professionals demonstrating an understanding of the role of genetic/genomic factors in health in order to underpin effective practice (NCG 4), and recognising where they might benefit from professional development in relation to genetics/genomics (NCG 6).

The specialist MODY healthcare professionals recognised the importance of genetic testing and information in establishing the correct diagnosis, and ultimately, treatment for Jenny and her son (NCG 5). In contrast, her story also highlights the limitations of some genetics tests such as that for FSH which is “not 100% exact”.

As a former healthcare professional and someone highly motivated to obtain the correct diagnosis for herself and her son, Jenny says “If I hadn’t researched the conditions for myself I would feel that I was given too little information too late”, highlighting the importance of adapting genetic information to the individual’s knowledge and level (NCG 2). An example of achieving this successfully was the visit to Jenny from the MODY specialist nurse, who “came to see us all at home to tell us all about it, answer all out questions and gave a power point presentation about it”.

Jenny conducted her own research into MODY and fought to be genetically tested - despite opposing views from some of the healthcare professionals she encountered – and was subsequently diagnosed correctly. This reminds us of the importance of the rights of all individuals to informed decision making and voluntary action (NCG 3).

Jenny’s story also demonstrates clearly the need to provide ongoing care and support to patients with genetic healthcare needs (NCG 8) and to recognise the expertise that those with enduring healthcare needs develop with time.

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

Jenny’s story provides both positive and negative examples of recognising the importance of being able to take and interpret family history information and use this to identify patients with, or at risk of, a genetic condition (GP-1c; GP-3b). Whilst Jenny’s GP and specialist MODY team used Jenny’s family history information, her consultant and diabetes nurse specialist failed to do so, as Jenny explains “the doctors….were given a family tree and further copies were given at clinic appointments. They were not interested, and the consultant even wrote a letter to the diabetes nurse specialist saying we didn’t have a genetic form of diabetes because of my age at diagnosis”. Having been diagnosed with two genetic conditions, Jenny and her family might have benefitted from a referral to genetic services for specialist help (GP-1g; GP-1e).

Jenny’s story reflects the very positive relationship she and her family have with their GP. She describes the support that she and her family receive from the GP and how she feels able to discuss issues around her FSH and MODY with him during their regular consultations saying “if there is anything I want to know now, I ask my GP, and if he doesn’t know then he will find out”. Her story is a reminder that consultations requiring the discussion of genetic information may require additional time (GP-7a), and also that a genetic diagnosis in one individual may also have implications for the management of other family members (GP-7c). In researching FSH, the GP had ensured he was up-to-date with current information and prepared for the consultation (GP-9). Jenny also explains how her GP liaises with other healthcare professionals on her behalf, such as with the MODY team about her medication or in following-up on appointments, highlighting the role a GP can play in coordinating care with other healthcare professionals, particularly in the management of multi-system disorders (GP-1h; GP-4a).

Jenny describes eloquently the social and psychological impact a genetic condition can have (GP-6b), and also raises some of the important legal issues (GP-2a), such as obtaining mortgages or insurance, and ethical considerations particularly around the testing of children, that can arise as a result of a genetic information (GP-8b).

We have linked this story to the learning outcomes in genetics for medical students based on curriculum statements developed in 1990 and 1996 and published in ‘Teaching Medical Genetics to Undergraduate Medical Students’ (British Society for Human Genetics/Joint Committee on Medical Genetics, 2003; www.bshg.org.uk/documents/official_docs/Undergrad.doc).

Jenny’s GP had researched FSH, and obtained current information about the condition in preparation for their consultation (MS 6). Someone like Jenny would also have benefitted from a referral to genetic services for specialist help.

Jenny explains how some of the healthcare professionals involved in her care used her family history information in helping to diagnose FSH and MODY, whist others failed to recognise the significance of doing this. These examples highlight the importance of being able to take and use family history information to identify individuals with, or at risk of a genetic condition (MS 3).

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