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Points for Reflection

Ann makes the point that although genetic prenatal testing may be seen as an answer to the risk of having a child with a serious condition, this step in itself may create pressure and bring grief to the family. One of the families known to Ann had to endure several terminations before having an unaffected child.

Activities

1. Imagine that you are a nurse caring for a woman having her third termination of pregnancy because the fetus has been diagnosed with a genetic condition. She asks you if you think she should try again to have a baby. How will you respond? Discuss with a colleague.

2. Imagine you work in a primary care practice. A man in your practice has Duchenne muscular dystrophy. His brother (a healthy 24 year old) comes to you very concerned about having a child with this condition. What action will you take? Use the reference material to find out what the risk to his children might be.

3. Ann speaks of the lack of space in the curriculum for more genetics. Imagine you are teaching pre-registration students in your own profession. In what areas of the curriculum could you help students to develop competence in supporting families who have a member with myotonic dystrophy?

Quotes

"Well I think thereís a lot of interest in genetics. Thereís a lot of interest in discovering what the genetic causes of the diseases are but Iím not quite sure we have really kind of taken the next step which is doing something about the knowledge. Itís all very well being told what the diagnosis is but then you have to sometimes fight for the types of services and one of the main problems I think about a lot of genetic conditions is that they are affecting more than one part of your body. They affect different systems."

"Itís quite difficult sometimes getting all the information about the familyÖitís very important to establish what diagnoses they are thinking about when you are drawing the family treeÖthe family may be coming along with a perception in their mind about one particular condition so they will dismiss other things that may be relevant. So they may, again if you think about myotonic dystrophy where thereís an increased risk of sudden deaths from cardiac problems or anaesthetic complications, then patients may dismiss the fact that they had a relative that died with one of these things but it may be very important and it may change the risks in a family."

"You may be talking about deaths, babies being still-born, multiple miscarriages and that can be really quite difficult for people to talk about sometimes and get them very upset. And the fact that there have been multiple losses sometimes in a family, gives them some complex bereavement issues and you have to deal with those when you face them when you open up that can of worms."

"...people say well you can have these tests, but they are not easy. They are very, very difficult for families to cope with. And sometimes it is so difficult that these young ladies wonít even tell their mothers because it is just too difficult for them to discuss with the family that they donít want to open the wounds for their mother and to go through these really difficult things like terminations by themselves. And waiting for that result from an amniocentesis or a chorionic sample for some couples can be just really tremendous pressure so that they almost donít talk to each other while they are waiting for the results which can take 2 or 3 weeks to come through."

"I think itís important for those who are learning particularly about nursing is that you can never ever know about everything, and whatís probably the important thing is to see people, find somebody who does know about it. And donít just assume that this patient has made up the name of his condition. They probably do know what they are talking about because I get very, very angry when patients come and say Ďthey kept telling me that they knew all about my condition. That they knew all about multiple sclerosis and I kept telling them, no, Iíve got muscular dystrophyí. So listen to the patient. Look at the patient. See how the patients cope and modify your behaviour accordingly."

Further information

Muscular Dystrophy Campaign: http://www.muscular-dystrophy.org/ Includes fact sheets for each of the dystrophies.

US National Library of Medicine, Genetics Home Reference: Duchenne and Becker muscular dystrophy.


Location: The Stories
Transcript

You can download the full transcript here

Annís story Ė a health professional working with families affected by muscular dystrophy
Specialist practice that includes Duchenne muscular dystrophy (X-linked) and myotonic dystrophy (autosomal dominant)

I would just like to start off by asking you to identify what condition it is you actually work with.

I work with people who have got muscular dystrophy, inherited forms. The majority of them are inherited.

And what does this involve?

I see patients in clinic, discuss problems that they have with the condition. I discuss diagnoses and talk about the genetic implications of the diagnosis with them and members of their family.

And what do you feel your clients and their families expect from you and your team?

I think they expect me to have knowledge about the muscle disease. I have been fortunate and I have been working with patients with muscle disease for 16 years now so I have seen a lot of different conditions and I have seen how they change with time. They want to know about the genetic implications and what the risks are for the family having other affected children or babies.

And how do you address these kinds of concerns they have in relation to the genetics?

Well I would talk to them about firstly what they think about the condition and then explore with them what the risks are and obviously sometimes that involves going into quite detail about genetics and biology with them and talking to them about the possibility of having pre-symptomatic testing or carrier testing and if they are concerned about their babies, possibly tests on the pregnancy to see whether its affected and the implications of possibly having a termination.

And do you have much contact with nursing colleagues and other multi disciplinary team members.

Iím a doctor and I work with some of the nurses who will often visit patients at home, but quite often Iím seeing patients by myself in clinic particularly in the city. There is very little support for the patients from the management of the disease point of view.

And do you feel that there is anything that could be improved in that area?

It would be nice to have some more support. We used to have a Family Care Officer who used to go and visit the families and discuss how they were managing at home. Unfortunately that service has been withdrawn because of lack of funding from a charity and it would have been quite nice to expand on that.

A lot of these patients are deteriorating and the services that are currently available looks at trying to improve people who have got some chance of improving and so they kind of get left at the back of the queue with things like physiotherapy and sometimes when they have occupational therapy involvement and home adaptations, by the time the adaptations are made, the condition has moved on and the adaptations are not necessarily always helpful. So it would be quite nice to be more proactive and have more other professionals working as part of a team and I have been trying to do that, to set that up, but the NHS hasnít got very much money so Iím sure it wonít allow that.

You say that you could do with support, in that sense, is there anything that the nursing professions could provide?

The general nurses?

General nurses as well as the specialist nurses.

Iíve had some time funded by a charity to try and improve the knowledge about muscular dystrophy. Unfortunately because these conditions are relatively rare, the nursing and medical profession really do not know very much about these conditions and quite honestly it is very often teaching the local team about what is going on with the patient that is the most important thing, and so I have had some time to do some of this work but unfortunately that money is going to run out soon so it will be back to trying to fit too much work into not enough hours basically.

Is there any other way that you feel that could be incorporated into the curricula, medical as well as nursing? Is that even a possibility do you think to introduce this idea?

I think there are possibilities to include it into the curricula, the trouble is the curricula for most health professionals is so choc-a-bloc with this, that, and the other, taking time out to think about rarer conditions, chronic conditions, doesnít seem to be very high priority but it would be very good if we could link some of these things together. I mean there are a lot of similarities between the muscular dystrophies and other neurological problems and other genetic conditions, in that very often there may be more than one family member affected. The conditions very often deteriorate and there may not be any recognised treatment for them. Itís just trying to maintain the best possible function that somebody has at a given time.

And what kind of ways do you address these shortcomings?

Well you try and patch things up and educate the people as you go along and try and educate, the patients very often, about what they need so that they can go and tell the other health professions. The Muscular Dystrophy Campaign have got some very good leaflets and now with the advent of internet access it is more frequent that people are looking up websites to gain information about special diseases which I think is a vast improvement over the last ten years that people are willing to go and look for the information and it is readily available over the internet now, and I think that students and health professionals will be accessing that in the future.

Just to go back to a point that you made in terms of the perception of genetics and neurological conditions. What do you think that is, from the point of view of the medical profession? I mean you touched a little bit on the fact that MD has been pushed to the back. How do you perceive genetics and neurological conditions within that?

Well I think thereís a lot of interest in genetics. Thereís a lot of interest in discovering what the genetic causes of the diseases are but Iím not quite sure we have really kind of taken the next step which is doing something about the knowledge. Itís all very well being told what the diagnosis is but then you have to sometimes fight for the types of services and one of the main problems I think about a lot of genetic conditions is that they are affecting more than one part of your body. They affect different systems.

So somebody with myotonic dystrophy which is a type of muscle disease will have muscle weakness, muscle spasm which will affect their mobility. They will have an increased risk of getting diabetes which might be difficult to treat. They will have heart problems. They will have cataracts. They will have an increased risk to sometimes tumours, and you have to think about the person as a whole. In fact you have to have a holistic approach to the patient with a lot of these genetic conditions because it isnít like you go to the doctor and youíve got a sore throat, or a bad toe. They just look at that bit. You have to think about the whole person and the fact that they may be developing all these other complications.

Tell me a bit about the point where you said that you provide people with information in relation to diagnosis or in relation to testing. Do you pass them on or provide any other support from other colleagues?

Well obviously we would refer people onto other specialists. We have a management clinic where we follow people up with muscle disease and try and make sure they are getting the best services possible but that is currently being squeezed by the NHS unfortunately, and try and educate the other professionals as we pass them on, such as cardiologists. Make sure they are aware why these patients are coming and the fact that they do need to be screened on a regular basis because their risk of having cardiac problems are quite high.

OK. And tell me a little bit about the issue of family history and needing to have that dialogue with family members. What is that like?

Itís quite difficult sometimes getting all the information about the family. Sometimes they are reluctant to talk about it, usually they are quite happy to talk about it. But itís very important to establish what diagnoses they are thinking about when you are drawing the family tree. You may be coming along because the family may be coming along with a perception in their mind about one particular condition so they will dismiss other things that may be relevant. So they may, again if you think about myotonic dystrophy where thereís an increased risk of sudden deaths from cardiac problems or anaesthetic complications, then patients may dismiss the fact that they had a relative that died with one of these things but it may be very important and it may change the risks in a family.

Fortunately for myotonic dystrophy we do have a gene test now so we donít have to rely so much on the family history but for somebody where we havenít got a diagnosis, we havenít got an easily available gene test, then family history may make or break the diagnosis or the inheritance pattern for that family. So it is very important to get all the right information about the family and not just assume that they are giving you - they give you the version they want to give so you have to sometimes probe. And sometimes it can be quite difficult because you are talking about family members who may not be talking to each other. You may be talking about deaths, babies being still-born, multiple miscarriages and that can be really quite difficult for people to talk about sometimes and get them very upset. And the fact that there have been multiple losses sometimes in a family, gives them some complex bereavement issues and you have to deal with those when you face them when you open up that can of worms.

Whatís been your experience of giving care so far? I mean you have already alluded to some of those issues but how would you sum that up?

Well my experience is that most people are very thankful that somebodyís taking an interest in their condition. They like to see somebody that has knowledge of the condition and it is very very important that people are able to see somebody who knows about their very rare condition and has seen other people go through the journey of deterioration and I find thatís quite useful for patients and they appreciate that but I do find it quite difficult getting other people involved.

And could you recall one particular positive or negative experience that you remember? Anything that stayed in your mind you think that was particularly very harrowing or that was very, very encouraging.

Well what I find is very harrowing is, there are a few boys with Duchenne muscular dystrophy. Duchenne muscular dystrophy is a progressive muscle wasting condition which is usually diagnosed in boys when they are about four or five and they just get gradually weaker and when their backs get very weak they get a scoliosis and it can be very uncomfortable sitting. Now they are looking at enhancing boys by steroids and this is encouraging them to walk longer so they donít get scoliosis but thereís one boy I have in mind who is now in his late teens and he really has to sit just right forward and he gets a lot of pain in his hip because that keeps dislocating due to the position he has to sit in and he is very frightened this boy. He wonít let his mother out of his sight for more than about 5 minutes and I find itís quite difficult dealing with him and coping with him. The occupational therapists have got him into a reasonable sitting position but then he deteriorates a bit more and it is really, really difficult and thatís quite harrowing.

I suppose the other kind of harrowing, one lady comes to mind quite a long time ago and her brother had died with Duchenne the same kind of muscular dystrophy when heíd been about 13 or 14 and she had watched him deteriorate. She was the only sibling of the boy with Duchenne and she didnít really want to have a son who had Duchenne and she had a prenatal test and the first pregnancy was affected by Duchenne.

We did have the gene test that we could do at that time, it was about 15 years ago to determine whether the baby was affected and so she had a termination and she had waited a long time until we were able to do tests before she even thought about pregnancy and so she was really upset. And about 6 months later she got pregnant again and I can remember going to her house and I knocked on her door and I went to that door and I was so upset for her that all I could really do, I had tears in my eyes when I knocked on that door because I knew how important getting pregnant was for her and the second pregnancy was another boy who had Duchenne. It was a shame. I had to go in there and she knew from the way I looked that it was bad news.

But I suppose the good day came when she had a little girl, the third pregnancy was a little girl. She did try again, the first two were so horrendous but she had a little girl and that was OK and she was very happy with her little girl. So thatís the harrowing and good. But it is quite difficult for families to cope with prenatal, and I think itís made worse for somebody like this lady because she had loved her brother but she couldnít put another child through the suffering that her brother had had. It was just too painful. The termination was very, very painful as well. So people say well you can have these tests, but they are not easy. They are very very difficult for families to cope with. And sometimes it is so difficult that these young ladies wonít even tell their mothers because it is just too difficult for them to discuss with the family that they donít want to open the wounds for their mother and to go through these really difficult things like terminations by themselves. And waiting for that result from an amniocentesis or a chorionic sample for some couples can be just really tremendous pressure so that they almost donít talk to each other while they are waiting for the results which can take 2 or 3 weeks to come through.

So obviously the issue of reproductive choice is very much something you are having to deal with?

Yes reproductive choice is, at the moment we have a dedicated team here that deals with the prenatal side so I donít get dragged into that agonising wait so often, but at one stage I took patients right through the process and I found that it was very rewarding but sometimes very difficult.

What do you think at this point would improve the care for your clients?

Somebody winning the lottery and giving it to the muscle service here! Well I think thatís really what it takes because at the moment we are putting in a bid to try and improve the services but you know with the fact that the Local Health Boards, the Trusts, and the Health Commission specialist services all currently being in the red, I donít think we are going to get either the Government funding, so weíve just got to try and make do with the little bit that weíve got but it would be quite nice to get a bit more physio, a bit more support and a specialist nurse for muscle disease would be useful.

So you say itís one of the rarer conditions, even if you just had one or two would that be very helpful for the group you work with?

Just one or two dedicated professionals, a physio that understands. In some areas theyíve got a physiotherapist that works with the clinic with these patients and that makes an awful lot of difference to the group and the positive nature of the patients I think because they can relay specialist information out to community physiotherapists. And having a nurse that can go and talk to the families, as I say I used to have somebody that worked with me of that nature and not having somebody I notice makes a lot of difference because I am trying to patch things together basically.

When you say you had the worker, was she somebody who was trained as a nurse or was she a non-nurse?

Over the years there were different people. When I first started there was somebody who was an occupational therapist and then we had another occupational therapist. After that we had a psychiatric nurse who was really good because she was able to deal with some of the psychological implications of having a genetic condition and a life-limiting condition and the last person was a social worker so at least she understood how you could apply for different allowances which they keep changing and I get confused.

Tell me about the role of the CPN in terms of the psychological aspect. Do you think that is dealt with?

The mental health teams very often wonít get involved with these patients. I have made referrals on a couple of occasions because somebody I felt was having a lot of, not depressing illness but depression in dealing with a child who had a life limiting condition and they said they were not within the criteria of their service. And I had another lady, she had a teenage son with Duchenne and she just didnít know how to talk to him about the fact that he did have a life-limiting condition and there was nobody there at that time to help and support that work.

I think the Childrenís Hospice now are addressing a lot of the issues around life-limiting conditions and giving fantastic support to the families, but weíve got a group of children or young adolescents in Wales who sadly didnít go through the Hospice movement and therefore they and their families havenít got that sort of support, or sometimes people just donít feel they want to go there. It is difficult. I mean there are people and there are different groups developing but sometimes itís a bit hit and miss with these conditions.

So as far as you know thereís no sort of definite service that you could refer people to who have this genetic life-limiting condition, and they would be able to go and know that their issues would be understood?

No and I think sometimes some of the agencies donít understand about the genetic things like you know, itís very, very difficult for a mother who has got a child who has got a genetic condition, seeing her child deteriorate, knowing she has given her child that condition by her genes, not wittingly, but she has passed it on and thereís a lot of guilt around that. Very often it only comes up sort of indirectly in conversation but you know that, as I was saying, there was this one lady who her son wonít leave her go for more than 5 minutes. Well of course she has seen her brother as well die of the same condition and she is very, very guilty about the fact that she had a child who had the same condition, and for her itís more tragic because she had this son because she had one pregnancy and she lost an unaffected pregnancy by miscarriage after a prenatal and so the second time she thought oh well Iíll take the risk. Iíll take the chance because losing an unaffected baby was horrific. Well maybe I wonít go through that one again and so she ended up with a boy and I know she is very guilty. She has hinted at it.

Actually dealing with all that psychological pent up concern is quite difficult. When her son dies I think you know she is going to have to re-build her whole life in a very different way that somebody who just has a straightforward bereavement. Itís difficult to lose a son anyway but when itís compounded by years of guilt it must be quite difficult. I know itís difficult from other families.

What other psycho-social issues do you think come up for people. I mean you mentioned the guilt and also the fact that a lot of people feel the stigma and so they canít go there in terms of discussing genetic conditions but what else do you think is happening for a lot of families and individuals? .

I think some of them get ostracised. People think that sometimes it might rub off on them. But more important I think itís because the family are so, particularly if theyíve got a very dependent child, they can be so tied up in looking after the child that they donít have time for a social life. You know if it takes you two hours to get your child out of bed and washed and dressed and into their chair then you are exhausted by the time you then think oh well letís go out to do something for fun. You know itís quite difficult. Youíve got all the rigmarole of wheelchairs and. Iím not saying that itís not possible and there are some families who get around it and they are wonderful.

One family comes to mind where I think the family were only held together because of the need to care. The day the sonís funeral occurred, the father packed his bag and he left. He had only been there carrying on because of the needs of the son and the fact that he was needed to lift his son into bed, onto the chair and what have you. And he felt, freedom I suppose when he decided he didnít have to be trapped in this situation. So he just went off.

What other kind of social problems? Well it can end up in a divorce earlier than that because some families just canít cope with the pressure so I think there is a high divorce rate in families where there is a disabled child. Some families will go off because they see well why have a child with this person when thereís a risk that we are going to have an other child or an affected child or we are going to have to go through this prenatal suffering. Increased risk of partnerships breaking up. Other children may suffer because they see all the attention being put onto the child with the problem.

Thatís not any different from having a non-genetic condition, but again thereís the guilt of the inheritance comes in as well, so either they feel pushed out or theyíve got to stay at home to help the family. They may feel that they canít have babies because itís too difficult. I have talked about pre-natal and not telling your mother, well sometimes the pressures of the family determine what the children decide about their future pregnancies, either that they donít have tests or they do have tests. So thatís a different sort of kind of pressure. Thereís a moral pressure which may be led by the psychosocial problems. Thatís the obvious ones I think.

Is there anything else that you would like to add that you feel would be important to the project that might be useful for us for the future to know and understand?

I think itís important for those who are learning particularly about nursing is that you can never ever know about everything, and whatís probably the important thing is to see people, find somebody who does know about it. And donít just assume, donít just assume that this patient has made up the name of his condition. They probably do know what they are talking about because I get very very angry when patients come and say Ďthey kept telling me that they knew all about my condition. That they knew all about multiple sclerosis and I kept telling them no Iíve got muscular dystrophyí. So listen to the patient. Look at the patient. See how the patients cope and modify your behaviour accordingly. If you can see that a patient canít lift up their hand it isnít because they donít wish to lift up their hand itís that sometimes they just donít have the muscles available to do it, and they need help. They need that hand to move. They need their leg moved if they canít do it themselves. They are not being difficult. Think about what they can and canít do and equally if they can do things donít jump and do it for them because that equally makes them quite cross.