Fascio-scapulo-humeral muscular Fascio-scapulo-humeral muscular dystrophy: A cross section of in-depth dystrophy: A cross section of in-depth

patient interviews on their perceptions of patient interviews on their perceptions of their healthcare and living with the their healthcare and living with the

condition.condition.Marina Di MarcoMarina Di Marco

Principal Neuromuscular PhysiotherapistPrincipal Neuromuscular PhysiotherapistSeptember 2015September 2015

FSHD is the third most common muscular dystrophy.FSHD is the third most common muscular dystrophy. In the United Kingdom, we believe it affects at least 1:50,000. It is In the United Kingdom, we believe it affects at least 1:50,000. It is thought there could be up to 3000 cases in the UK alonethought there could be up to 3000 cases in the UK alone ((

www.musculardystrophyuk.org).). More recent estimations believe the prevalence to be far greater More recent estimations believe the prevalence to be far greater and in fact in the region of 1:15,000 - 1: 20,000and in fact in the region of 1:15,000 - 1: 20,000 (Tawil et al, 2015).(Tawil et al, 2015).

Autosomal Dominant and affects both males and females Autosomal Dominant and affects both males and females presenting in childhood, adolescence or adulthood.presenting in childhood, adolescence or adulthood.Presents initially as facial, shoulder girdle weakness but all muscles Presents initially as facial, shoulder girdle weakness but all muscles tend to be affected in time to some degree or other.tend to be affected in time to some degree or other.Other symptoms include retinal vascular disease, hearing loss, and Other symptoms include retinal vascular disease, hearing loss, and whilst cardiac and respiratory muscle is generally preserved, the whilst cardiac and respiratory muscle is generally preserved, the more severe cases can present with a cardiac arrhythmia or more severe cases can present with a cardiac arrhythmia or expiratory muscle weakness expiratory muscle weakness ((Santos et al, 2015Santos et al, 2015 Tawil et al, 2015)Tawil et al, 2015)

The Healthcare Quality Strategy describes The Healthcare Quality Strategy describes six core concepts of healthcare: person-six core concepts of healthcare: person-centred, safe, effective, efficient, equitable centred, safe, effective, efficient, equitable and timely and timely (The Healthcare Quality Strategy for Scotland, 2010)(The Healthcare Quality Strategy for Scotland, 2010) Better Health, Better Care (2007) focuses Better Health, Better Care (2007) focuses not only on the quality of healthcare but on not only on the quality of healthcare but on the patient’s perceptions of their the patient’s perceptions of their healthcare experience.healthcare experience.

Improving the patient experience is noted in the literature Improving the patient experience is noted in the literature from the 1980’s when clinicians began to explore the from the 1980’s when clinicians began to explore the links between service delivery and patient’s needs and links between service delivery and patient’s needs and expectations.expectations.The Picker Institute (1993) discussed the person centred The Picker Institute (1993) discussed the person centred approach:approach:– **Respect for patient preference and values**Respect for patient preference and values– *Emotional support *Emotional support – **Physical comfort**Physical comfort– **Information**Information– **Communication and education**Communication and education– *Continuity and transition*Continuity and transition– **Coordination of care**Coordination of care– **Involvement of family and friends and access to care **Involvement of family and friends and access to care

10 patients were selected at random from the 10 patients were selected at random from the physiotherapy database and sent a letter. physiotherapy database and sent a letter. Residing in different Health Board areas Residing in different Health Board areas throughout Scotland throughout Scotland Different social backgrounds and represent a Different social backgrounds and represent a cross section of the FSHD population in terms of cross section of the FSHD population in terms of age and stage of the conditionage and stage of the condition

6 patients responded6 patients responded

Interviews were transcribed manually and Interviews were transcribed manually and divided into categories to aid analysis.divided into categories to aid analysis.

Grounded theoryGrounded theory

Health Board RegionHealth Board Region HomeHome ClinicClinic Written Written NotesNotes

Audio Audio NotesNotes

AV NotesAV Notes

NoSNoS ** **

NoSNoS ** **

EoSEoS ** **

WoSWoS ** **

WoSWoS ** **

Analysis – Self determination theory (Deci & Ryan) In Analysis – Self determination theory (Deci & Ryan) In order to achieve psychological growth in terms of order to achieve psychological growth in terms of motivation, the following factors are required:motivation, the following factors are required:

Competence: The ability to master tasks and learn new Competence: The ability to master tasks and learn new skills; the desire to act proficiently in our surroundings.skills; the desire to act proficiently in our surroundings.

Relatedness: The need to feel a connection with others; Relatedness: The need to feel a connection with others; to feel supported and understood.to feel supported and understood.

Autonomy: Having a sense of choice in our actions, to Autonomy: Having a sense of choice in our actions, to have confidence in our decisionshave confidence in our decisions

Signs from early onSigns from early onOther people noticed things with his physical Other people noticed things with his physical ability.ability.““With regards to the healthcare professionals I With regards to the healthcare professionals I have met along my way, I believe everyone I have met along my way, I believe everyone I have come into contact with has been well have come into contact with has been well intentioned. However, I often feel that not intentioned. However, I often feel that not enough is being done in terms of finding a cure. enough is being done in terms of finding a cure. At least that’s my impression…maybe I just don’t At least that’s my impression…maybe I just don’t know what’s being done”.know what’s being done”.

I think that during clinic consultations it’s a two–I think that during clinic consultations it’s a two–way process. Healthcare professionals should way process. Healthcare professionals should be prepared not to just ask questions but to give be prepared not to just ask questions but to give information on trials, research and more information on trials, research and more information in general on what’s going on in the information in general on what’s going on in the world of neurosciences and Genetics. I know world of neurosciences and Genetics. I know that clinic time can be extremely busy and this that clinic time can be extremely busy and this could be a barrier but I think it’s important that could be a barrier but I think it’s important that we don’t just answer the Doctor’s questions that we don’t just answer the Doctor’s questions that we have time to ask our own questions too.we have time to ask our own questions too.

““I do become frustrated at the lack of knowledge I do become frustrated at the lack of knowledge when undertaking day-to-day tasks as those when undertaking day-to-day tasks as those around me have never heard of this condition. around me have never heard of this condition. This is one of the challenges with having a rare This is one of the challenges with having a rare condition and it is not limited to members of the condition and it is not limited to members of the public as I often come across healthcare public as I often come across healthcare professionals who also have no knowledge of professionals who also have no knowledge of the condition. This can be really frustrating the condition. This can be really frustrating having to explain to peoplehaving to explain to people””

““One of the things that has really added to my One of the things that has really added to my quality of life is my free bus pass. We use it quality of life is my free bus pass. We use it regularly…and not just for appointments. I regularly…and not just for appointments. I

visit my family and friends and we visit my family and friends and we sometimes go away for the day too. In fact if sometimes go away for the day too. In fact if

you ever get the opportunity to tell MSP’s you ever get the opportunity to tell MSP’s how important the bus pass is to people like how important the bus pass is to people like

us, please do tell themus, please do tell them””

““I feel very strongly that children shouldn’t I feel very strongly that children shouldn’t be told they have these conditions early on be told they have these conditions early on when they have no idea and there’s no when they have no idea and there’s no real signs because my mother then was real signs because my mother then was very overprotective, very anxious and it did very overprotective, very anxious and it did affect me. It did make feel as though affect me. It did make feel as though there’s something horrible to look forward there’s something horrible to look forward to in the future”to in the future”

““The fact my grandmother wasn’t so The fact my grandmother wasn’t so disabled was a very good spur for me disabled was a very good spur for me because my grandmother was up and because my grandmother was up and about til the day she died of a heart attack. about til the day she died of a heart attack. In fact, she was actually standing up In fact, she was actually standing up tapping her feet to music when she died. I tapping her feet to music when she died. I did have that as a model of what you can did have that as a model of what you can be with muscular dystrophy”be with muscular dystrophy”

HousingHousing: : I had lived in my old house for a long I had lived in my old house for a long time. It was daunting knowing I had to move – in time. It was daunting knowing I had to move – in fact it was the specialist neuromuscular fact it was the specialist neuromuscular physiotherapist who suggested I should move physiotherapist who suggested I should move and I am really very grateful for that. I don’t and I am really very grateful for that. I don’t know what I would’ve done. I had so many falls know what I would’ve done. I had so many falls in the back garden –The physiotherapist helped in the back garden –The physiotherapist helped me to focus and think about the house. I looked me to focus and think about the house. I looked around at houses and decided that a level around at houses and decided that a level house, easy access to the car, shops just down house, easy access to the car, shops just down the road. It couldn’t be better.the road. It couldn’t be better.

Transport to Hospital AppointmentsTransport to Hospital Appointments: : I’m up and I’m up and down to Glasgow twice a month. I can’t down to Glasgow twice a month. I can’t complain….I’m obviously getting good care. I complain….I’m obviously getting good care. I need to go to Gartnavel Hospital or the Southern need to go to Gartnavel Hospital or the Southern General Hospital and there’s a voluntary General Hospital and there’s a voluntary transport service and of course you get help transport service and of course you get help financially to go when you’re in the Highlands financially to go when you’re in the Highlands and Islands. So you pay the voluntary transport and Islands. So you pay the voluntary transport person who is driving their own car and you give person who is driving their own car and you give them £50 and you claim back £40 them £50 and you claim back £40 retrospectively from the Health Board so it only retrospectively from the Health Board so it only costs £10 for a door-to-door service. It’s a costs £10 for a door-to-door service. It’s a marvellous service – a local service. marvellous service – a local service.

FatigueFatigue: : Certainly exhaustion is one of the Certainly exhaustion is one of the things I remember from work and from things I remember from work and from other things as well. Sometimes I would other things as well. Sometimes I would feel very fatigued. Also the advice from the feel very fatigued. Also the advice from the specialist neuromuscular physiotherapist specialist neuromuscular physiotherapist has helped cos I really didn’t know has helped cos I really didn’t know much….I didn’t have much information at much….I didn’t have much information at all until the specialist physiotherapist all until the specialist physiotherapist visited. I felt I was in the dark before that. visited. I felt I was in the dark before that.

Being re-referred this time around felt different. Being re-referred this time around felt different. You were left to your own devices the first time You were left to your own devices the first time around. I suppose if I went looking for help I around. I suppose if I went looking for help I might have got it. I never spoke to my GP about might have got it. I never spoke to my GP about my muscle condition; I just got on with it.my muscle condition; I just got on with it.There is a difference now with more people There is a difference now with more people working in this area like the nurse specialist, the working in this area like the nurse specialist, the care adviser, the specialist physiotherapist. I care adviser, the specialist physiotherapist. I know where I can get that help now and it’s a know where I can get that help now and it’s a very good feeling to know you’ve got that. It’s a very good feeling to know you’ve got that. It’s a big improvement big improvement

I’m a great believer that if you dwell on I’m a great believer that if you dwell on things for too long then that becomes a things for too long then that becomes a

worse illness than what you’ve got – it only worse illness than what you’ve got – it only exacerbates the thing.exacerbates the thing.

Hospital Hospital AppointmentsAppointments:The people I did get very :The people I did get very involved with were the Westmarc Centreinvolved with were the Westmarc CentreI called them the A-team, of which I was part; we I called them the A-team, of which I was part; we were very much part of the unit. There was a were very much part of the unit. There was a couple of things – me being an engineer - about couple of things – me being an engineer - about the hingeing and stuff like that which we talked the hingeing and stuff like that which we talked about and so it was something that I could get about and so it was something that I could get involved in proactively and they took wire frame involved in proactively and they took wire frame models which they used in the seminars and models which they used in the seminars and things like that. I felt like the bionic man (laughs). things like that. I felt like the bionic man (laughs).

InformationInformation: : I was recently up seeing the nurse I was recently up seeing the nurse specialist and gave her my tales of woe and she specialist and gave her my tales of woe and she has responded to that and kept in touch with the has responded to that and kept in touch with the local doctors so there’s a network there which is local doctors so there’s a network there which is saying well, this is the condition, this is where saying well, this is the condition, this is where I’m currently at – so I think it’s invaluable – I’m currently at – so I think it’s invaluable – moreso to doctors because local GP’s I find moreso to doctors because local GP’s I find when you come to mention muscular dystrophy, when you come to mention muscular dystrophy, it’s one of the rarer sort of things they look at - it’s one of the rarer sort of things they look at - all the other subjects are fine, but when you all the other subjects are fine, but when you come to that it is truly a specialised subject and come to that it is truly a specialised subject and some people tend to shy away from it. some people tend to shy away from it.

The children’s services were so much moreThe children’s services were so much morepersonal – the adult services, it’s just, I don’t feel personal – the adult services, it’s just, I don’t feel like you’re, I don’t know how to say it – it’s just like you’re, I don’t know how to say it – it’s just like you’re there for the appointment and then like you’re there for the appointment and then you leave, whereas in children’s services…just you leave, whereas in children’s services…just much more personal, a lot friendlier. much more personal, a lot friendlier. I mean I understand that they’ve got all of their I mean I understand that they’ve got all of their deadlines to stick to, but just even if they were deadlines to stick to, but just even if they were like more friendly…How are you? How are you like more friendly…How are you? How are you enjoying your day or anything like that would just enjoying your day or anything like that would just make - ‘cos hospital appointments aren’t nice to make - ‘cos hospital appointments aren’t nice to go to so it would make a big difference if they go to so it would make a big difference if they were a bit more friendly. were a bit more friendly.

CarersCarers: I’m really really lucky to have my 24hour care : I’m really really lucky to have my 24hour care team so I’ve always got someone with me which it sort of team so I’ve always got someone with me which it sort of benefits me independently in terms like I can get out benefits me independently in terms like I can get out when I want to get out, I can do what ever I want but it when I want to get out, I can do what ever I want but it also means someone’s with me all the time so it’s sort of also means someone’s with me all the time so it’s sort of weighing up the balance; weighing up the balance; ……..it was really hard to get the 24 hour care. It was ..it was really hard to get the 24 hour care. It was challenging – just to get the finance. I was the first challenging – just to get the finance. I was the first disabled individual from the Highlands to go to University disabled individual from the Highlands to go to University – I was the Trailblazer- setting the way for the new – I was the Trailblazer- setting the way for the new generation (laughs). I don’t really know anyone else generation (laughs). I don’t really know anyone else that’s had the same challenge.that’s had the same challenge.

It was different for other family members. It was different for other family members. My eldest brother told me recently that he My eldest brother told me recently that he got treated for depression after he got told. got treated for depression after he got told. Kevin was in denial, he had to get biopsies Kevin was in denial, he had to get biopsies done. Mum felt really guilty and especially done. Mum felt really guilty and especially now as she can see the effects in the now as she can see the effects in the three of us. She knows that my son has it three of us. She knows that my son has it too. She feels she has passed it on to us too. She feels she has passed it on to us and now on to her grandson.and now on to her grandson.

I didn’t take the initial diagnosis in as the I didn’t take the initial diagnosis in as the whole family was diagnosed. It’s a lot to whole family was diagnosed. It’s a lot to think about and when you don’t have any think about and when you don’t have any symptoms – but it is important to go back symptoms – but it is important to go back and re-visit the diagnosis…..but I was and re-visit the diagnosis…..but I was devastated when I went back it was like devastated when I went back it was like getting the diagnosis all over again.getting the diagnosis all over again.

It must be difficult for doctors trying to help It must be difficult for doctors trying to help you because they see you at one you because they see you at one appointment and you seem okay and then appointment and you seem okay and then they can see you again the following day they can see you again the following day and you can be falling apart. and you can be falling apart.

Sometimes when I come out from a Sometimes when I come out from a consultation, the next day I feel really consultation, the next day I feel really upset when I think about it.upset when I think about it.

Some appointments send a letter afterwards of Some appointments send a letter afterwards of the discussion of the appointment and that’s the discussion of the appointment and that’s great because it recaps. Sometimes you go great because it recaps. Sometimes you go home and forget and when you get the letter you home and forget and when you get the letter you go, oh, that’s right – we spoke about that – that go, oh, that’s right – we spoke about that – that system is beneficial I would say.system is beneficial I would say.I would say certainly this year I’ve felt massive I would say certainly this year I’ve felt massive changes you know, well, they feel massive to changes you know, well, they feel massive to me. They’re maybe not huge for a doctor or me. They’re maybe not huge for a doctor or healthcare professional looking at me…they’re healthcare professional looking at me…they’re maybe just small changes but any change is a maybe just small changes but any change is a massive change to me.massive change to me.

Competence:Competence:Patients discussed their desire for information. Patients discussed their desire for information. – Information on research specifically related to their condition. Information on research specifically related to their condition. – Information on new technologies to support the way in which Information on new technologies to support the way in which

they manage their condition. they manage their condition. – Some patients felt they had to ask, they had to be the ones who Some patients felt they had to ask, they had to be the ones who

led the discussion in these areas. led the discussion in these areas.

Could healthcare professionals better engage with Could healthcare professionals better engage with patients expectations of the clinic appointment and look patients expectations of the clinic appointment and look for realistic solutions to managing these expectations? for realistic solutions to managing these expectations?

Working in partnership is a two-way process and Working in partnership is a two-way process and perhaps patients need help and support in this perhaps patients need help and support in this area. area.

Coming to clinic with ideas and questions should Coming to clinic with ideas and questions should be the norm for clinic appointments and not be the norm for clinic appointments and not viewed as a failing on the part of the clinician but viewed as a failing on the part of the clinician but a positive step in the exchange of information. a positive step in the exchange of information.

Can we better direct patients to online Can we better direct patients to online resources?resources?

Relatedness: Relatedness: working in teams is generally felt to be of benefit, working in teams is generally felt to be of benefit, giving the patient an opportunity to engage with giving the patient an opportunity to engage with different team members who have knowledge and different team members who have knowledge and understanding of the condition. understanding of the condition. If the patient feels valued, understood and their If the patient feels valued, understood and their symptoms are recognised, healthcare outcomes symptoms are recognised, healthcare outcomes are improved even if no cure and no treatment is are improved even if no cure and no treatment is available. available. Specialist clinics are important for patients with Specialist clinics are important for patients with neuromuscular disorders and ensuring the neuromuscular disorders and ensuring the network is accessible to clinicians working in network is accessible to clinicians working in specialist areas is of continued importance.specialist areas is of continued importance.

Autonomy: Autonomy: Supporting patients in their confidence to make Supporting patients in their confidence to make clinical choices with regard to treatment and clinical choices with regard to treatment and management is of great importance in management is of great importance in healthcare. healthcare. Ensuring we are also addressing the patients Ensuring we are also addressing the patients support networks is important for patient support networks is important for patient autonomy.autonomy.Active participants rather than passive Active participants rather than passive recipients.recipients.

Clinicians within the SMN participate in research and Clinicians within the SMN participate in research and continually strive to ensure the SMN leads the way in the continually strive to ensure the SMN leads the way in the diagnosis, treatment and management of neuromuscular diagnosis, treatment and management of neuromuscular conditions. However, patients may not always be aware conditions. However, patients may not always be aware of the level of expertise within the network and it is of the level of expertise within the network and it is important that the network communicates this effectively important that the network communicates this effectively and directly to patients.and directly to patients.Continuing to work closely with the major charities to Continuing to work closely with the major charities to cascade information is an ongoing task within the cascade information is an ongoing task within the network and developing new ideas using new network and developing new ideas using new technologies to ensure patients can access this technologies to ensure patients can access this information in a variety of ways is a priority for our information in a variety of ways is a priority for our ongoing patient engagement strategiesongoing patient engagement strategies

For patients who have fallen through the system For patients who have fallen through the system and are no longer attending clinic appointments, it and are no longer attending clinic appointments, it could be helpful to re-engage with this group to could be helpful to re-engage with this group to ensure they have current information on their ensure they have current information on their condition. condition. During the interviews it became apparent that During the interviews it became apparent that patients were not always aware of help that was patients were not always aware of help that was available from different healthcare teams and available from different healthcare teams and perhaps looking for ways to re-engage with this perhaps looking for ways to re-engage with this population, whilst respecting their right to privacy population, whilst respecting their right to privacy could be challenging in it’s own right but may have could be challenging in it’s own right but may have beneficial outcomes beneficial outcomes

AcknowledgementsAcknowledgements

Bernard McDermott – Med IllBernard McDermott – Med IllKaryn RobertsonKaryn RobertsonCarsten MandtCarsten MandtLaura CraigLaura CraigNSDNSDSMN Steering groupSMN Steering groupAND all of the patients who took part in these AND all of the patients who took part in these interviews…..you are our teachers.interviews…..you are our teachers.

THANK YOUTHANK YOU