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Sunday, 28 February 2021

2020 Survey Results

Rare disease day is here again, and I am very pleased to publish the results of my 2020 survey.

This post is an abbreviated version of the full results. If you wish to read the full version of the results please follow this link: https://drive.google.com/file/d/1Ect9mdluhSY3xGo8MZLezp22hk435l5r

In the post below table numbers are not sequential. There are other tables of data in the full version of the results, and this approach avoids confusion between people referring to results from this post against the full results just by table number.

Thanks are due to all who helped with this. Most importantly, thank you to all the respondents in many countries who took time to respond to this survey, without these excellent answers this analysis would not be possible. Thank you to the various HSP groups around the world and on Facebook who have let members know about this survey. Thank you also to individuals who assisted with translating the survey questions and those who gave comments on earlier versions of these findings.

Introduction

This paper presents the results of my eighth survey, launched in October 2020. This survey repeats the multi-language setup introduced in 2019, with the survey in different languages allowing people to read and answer directly in their own language. 

Respondents

There were 317 respondents who completed the survey, predominantly from the UK, Brasil and USA. Table 1 shows the distribution of respondents’ locations;

Table 1 - Location of respondents

Location

Respondents

Percentage

UK

69

22%

Brasil

67

21%

USA

51

16%

France

39

12%

Netherlands

21

7%

Canada

17

5%

Australia

16

5%

Other Europe

32

10%

Rest of world

5

2%

 The number of responses to this survey is lower than in 2019, but higher than earlier ones, reflecting the wider reach with the survey available in multiple languages. The ‘Other Europe’ category includes higher numbers of answers from Italy, Belgium, Spain, and Denmark. With this survey the analysis also separates out results from countries with higher numbers of respondents to identify country-to-country differences, with 88% of respondents coming from seven countries. The main change from previous analyses is that USA and Canada have previously been grouped together.

 A brief analysis shows that 170 people who completed this survey had also completed at least one of my previous surveys, representing about 54% of respondents, the proportion is increased from 2019. There are ten people who have completed six or more of my eight surveys.

HSP Analysis

The first questions in the questionnaire asked if people had HSP. 313 respondents answered this question, selecting from the following options:

Table 2 – HSP Diagnosis

HSP Diagnosis

Respondents

Percentage

I have HSP - genetic test

170

54%

I have HSP - other diagnosis

103

33%

I do not know if I have HSP

8

3%

I am answering on behalf of someone else with HSP

32

10%

 Around 54% have had a genetic test. The proportion having a genetic test is lowest in Brasil (38%), and highest in Netherlands (76%) and Australia (69%), with all other areas being within 5% of the average.

There were 201 respondents (55%) who knew which type of HSP they had, with the most common answer being type 4 – SPG4, indicating a mutation in the Spast gene. HSP types with at least three people reporting a diagnosis are shown, with the gene which is mutated in that type of HSP:

Table 4 – Type of HSP

HSP Type

Gene

Respondents

SPG 3/3a

ATL1

9

SPG 4

Spast

89

SPG 5/5a

CYP7B1

7

SPG 7

Paraplegin

30

SPG 8

WASHC5

4

SPG 11

Spatacsin

10

SPG 30

KIF1A

3

Other types

-

22

These results are similar to those in previous years, where SPG 4 and SPG 7 are the most common types of HSP reported. SPG4 is the most common type of HSP across the world. There are some variations in country between the more common types of HSP:

Of the respondents to this survey, SPG4 is more common in UK, France and Netherlands than in other countries, and SPG7 is more common in USA, Canada and Australia than in other countries. Brasil shows the greatest number of different types of HSP.

Wellbeing

In order to assess the wellbeing of people with HSP, respondents completed the Warwick-Edinburgh Mental Well-being scale (WEMWBS). The scale is scored by summing the response to each item answered on a 1 to 5 Likert scale. The minimum scale score is 14 and the maximum is 70. The total score is higher for those with a better wellbeing. The average score across England and Scotland populations is 51-52 with most scoring between 41 and 59.

There were 308 respondents who answered this question, with the average wellbeing score of 42.9, which is lower than the average scores of 47.4 in 2019 and 45.9 in 2017 and 2018. The scores ranged between 14 and 70. The average is lower than UK population norms, however it is still within the “average” definition and is also similar to those with a self-perceived health status of “poor”. 

Wellbeing scores throughout this post that could be significantly different from the average have been shaded yellow or light green, and those that are likely to be significantly different from the average are shaded orange and green. Wellbeing scores have not been evaluated for small groups of respondents (less than 10). Wellbeing scores for groups of less than 20 people are shown in brackets and these cannot be reliably assessed in respect of the significance due to group size.

It is relevant to note that this years’ average score is approximately five points lower than last years’ average score, potentially indicating that wellbeing between 2019 and 2020 has dropped significantly. One potential explanation for lower wellbeing this year is the effect of Coronavirus on people around the world, with people having answered these questions October to December 2020. This year is the fourth year the wellbeing questions have been asked, and there are 83 people who have answered these in at least three surveys.

Table 6 – Wellbeing Over Time

Area

2017

2018

2019

2020

All respondents

45.9

(+3)

45.9

(+3)

47.4

(+4.9)

42.9

Those answering in at least 3 years

47.4

(+4.5)

46.1

(+3.2)

48.6

(+5.7)

43.4

(+0.5)

This table shows that those who have answered this question regularly have a lower wellbeing in 2020 compared with previous years, which is more likely to indicate a genuine reduction in wellbeing in 2020.

 The wellbeing for each country has been calculated to identify if there is potential for differences in wellbeing across the world.

 Table 7 – Regional Wellbeing

Area

Wellbeing

UK

42.4

Brasil

40.8

USA

44.9

France

43.5

Netherlands

43.4

Canada

(41.4)

Australia

(45.5)

This shows that people in Brasil and Canada have a slightly lower wellbeing and those in USA and Australia have a slightly higher wellbeing. These results are different from 2019, however all scores are within 3 points of the average suggesting that any regional differences are not significant.

When comparing with the 2019 results, results in all areas are lower except for Australia which is similar. Anecdotally, Australia appears to have been less affected by Coronavirus than the other areas where respondents are. This may suggest that coronavirus is one of the factors leading to a lower wellbeing, however it is acknowledged that this questionnaire does not contain information to support this idea directly.

Those who have SPG4 have an average wellbeing of 44.8, slightly above the overall HSP average. Those with SPG7 have a lower wellbeing score of 37.9, 5 points below the average and consistent with results from 2019. There are insufficient people with SPG11 in this survey to assess if having SPG11 is a factor in peoples wellbeing.

Mobility Analysis

Just over half of respondents use walking sticks/poles/crutches/ canes, two fifths use wheelchairs/mobility scoters and just over a quarter use walking frames/rollators. FES is the mobility aid used by the least number of people, with a take-up of less than 5%. Broadly these results are similar to those from previous years. Table 7 shows these results, including the percentage of respondents. These add to more than 100% as some people use more than one type of mobility aid.

Table 8 – Use of mobility aids

Mobility Aids Used - Summary:

Respondents

Percentage

Using sticks/poles/crutches/canes

161

51%

Using Wheelchair/Mobility Scooter

128

40%

Using Walking Frame/Rollator

88

28%

Using Orthotics/AFO/Insoles

92

29%

Using FES

11

3%

The results also allow the distribution of respondents within a scale of mobility to be understood. I have devised an “HSP mobility score” which then allows me to cross-reference mobility against the other questions in the questionnaire. The definition of the HSP mobility score is;

  1. No mobility effects
  2. Can walk without aids but some effects
  3. Orthotics/AFO/FES and/or Sticks/Poles/Crutches/Canes some of the time
  4. Sticks/Poles/Crutches/Canes and Frame/Chair some of the time
  5. Sticks/Poles/Crutches/Canes most of the time
  6. Sticks/Poles/Crutches/Canes all of the time
  7. Rollator/Walking frame most of the time
  8. Rollator/Walking frame all of the time
  9. Wheelchair/Mobility scooter most of the time
  10. Wheelchair/Mobility scooter all of the time

The results are simplified into five broader groups;

Table 9 – Overview of mobility aids used

Mobility Aids Used - Overview:

Respondents

Percentage

Mobility Score

Wellbeing

Those without aids

54

17%

0-1

43.7

Those who use mobility aids some of the time

59

19%

2-3

42.4

Those who use sticks most/all of the time

101

32%

4-5

42.8

Those who use frames most/all of the time

44

14%

6-7

44.0

Those who use chairs most/all of the time

58

18%

8-9

42.2

The wellbeing scores do not vary significantly across types of walking aid being used. The distribution of wellbeing scores is shown for all respondents in the following figure, split by mobility score.

 


Needs

Questions were asked to identify the needs of people with HSP, based on a list of needs derived from observing people’s stories and concerns over time, and the experiences of people with HSP from different areas. The list of needs was split into five topics. In the questionnaire, respondents were asked to select their top five needs in each category.

To rank the different needs into an overall list, the total number of votes for each need has been weighted by the rank, so the total score is:

(Top Rank * 5) + (2nd Rank * 4) + (3rd Rank * 3) + (4th Rank * 2) + (5th Rank).

The results were also reviewed, and any duplicate answers given by people were deleted, such that for any one individual a choice is counted once in the overall score. Some people chose to choose five different needs, whereas others chose fewer than five needs or skipped some topics. Between 300 and 312 respondents gave answers for each topic.

For each topic, a table reports the number of people choosing the need as their most important need (1st rank), the total number of people choosing the need in any rank including first rank (total votes), the weighted score (score), and the weighted score expressed as a percentage of the highest scoring need (percent). The background of the percent column has been shaded to show the relative importance of each, with the more important needs being shaded darker green. Needs which feature in the top five in any country group are shown in bold, and these are country specific needs are presented in country specific needs analysis sheets in a separate post (https://hspjourney.blogspot.com/2021/02/2020-survey-results-country-specific.html). Similar scoring needs are grouped using light shading.

Living with HSP   

This topic included 20 needs.

Table 12 – Living with HSP needs

Living with HSP Needs

1st Rank

Total Votes

Score

Percent

Stretches and exercises that help

129

211

907

100%

Information on appropriate physical activities to take part in

34

135

500

55%

Information on tailoring physical activities to suit HSP

22

109

367

40%

Information on how best to walk

19

104

324

36%

Information on living with HSP & other long-term conditions

30

92

305

34%

Understanding if changes/new symptoms are to do with HSP

15

86

246

27%

Information on staying healthy with reduced mobility

12

86

242

27%

Information on how to select mobility aids

7

88

242

27%

Information on getting up from falls

8

70

199

22%

Information on how participation levels may change over time

9

67

185

20%

Information on types of modifications around the home

6

60

143

16%

Understanding when to review/change treatments

5

54

138

15%

Information on how dietary choices can influence HSP

3

57

136

15%

Information on how to use mobility aids

3

42

96

11%

Information on when to change mobility aids

4

34

92

10%

Information on when you might need home modifications

1

41

95

10%

Information on best practice using the toilet

1

37

79

9%

Information on dietary supplements and their effects on HSP

1

32

67

7%

Information on driving with HSP

1

29

61

7%

Information on reviewing/changing modifications around the home

1

17

47

5%

Stretches and exercises that help is the clear top need in this topic, with 41% of respondents identifying it as their top need. The second need is information on appropriate physical activities to take part in. The remaining needs are in fairly distinct groups, with percentages in the ranges: 34-40%, 27%, 15-22%, and lower scoring ones.

Several people commented that it was difficult to choose a top five out of these needs. Others made comments identifying other needs, with many saying about enjoying what you can do, having a positive mindset and living one day at a time. Similarly, needs around acceptance and motivation were identified, and the need to mentally prepare for the future. Also, knowing if changes in health are to do with HSP or something else, and identifying when a change in care/caring is needed. Additionally, information on discounts or grants for modifications around the home or mobility aids, and having an HSP FAQ which could be given to employers.

Diagnosis and Inheritance   

This topic included 11 needs:

Table 13 – Diagnosis and Inheritance needs

Diagnosis and Inheritance Needs

1st Rank

Total Votes

Score

Percent

Explanation of HSP on diagnosis

126

234

924

100%

Signposting about potential future needs

36

207

652

71%

Signposting about HSP information

21

144

433

47%

Reduced clinical diagnosis time

27

121

393

43%

Having genetic tests available for more types of HSP

29

120

360

39%

Understanding what a genetic diagnosis means

17

128

343

37%

Information on the likelihood of others in family having HSP

15

114

325

35%

Information on the likelihood of next generation having HSP

12

113

314

34%

Signposting about HSP communities

7

115

292

32%

Fewer clinical misdiagnoses

14

87

267

29%

Greater certainty on genetic diagnosis results

9

79

210

23%

‘Getting an explanation of HSP on diagnosis’ is the clear top need in this topic, with 40% of respondents identifying it as their top need. The second need is signposting where to find information about potential future needs. The remaining nine needs are grouped closely together, indicating broad spread of opinion.

Several people made comments, with strong themes around misdiagnosis, around medical professionals needing better knowledge about HSP, and around not wanting to repeat information to multiple doctors. Other themes included; basic information about HSP (variation in symptoms, inheritance, etc.), being told some positive aspects rather than entirely negative perspectives, advice on needing strength of character, receiving information so people don’t feel so alone, and coverage of genetic tests on insurance policies.

Wellbeing  

This topic included 12 needs.

Table 14 – Wellbeing Needs

Wellbeing Needs

1st Rank

Total Votes

Score

Percent

Information on improving mental health/wellbeing

136

229

957

100%

Information on finding/accessing relevant healthcare professionals

45

188

614

64%

Information on obtaining benefits

22

165

512

54%

Information on communicating with healthcare professionals

30

143

473

49%

Understanding your rights

12

138

366

38%

Information on asking for adjustments at work

18

108

354

37%

Information on finding HSP patient communities

12

110

300

31%

Information on maintaining a good sleep routine

12

99

258

27%

Links with other organisations - larger community

5

56

129

13%

Links with other organisations - shared activities

3

48

109

11%

Understanding discrimination

3

45

96

10%

Information on changing job/career

2

36

73

8%

Information on improving mental health and wellbeing is the clear top need in this topic, with 43% of respondents selecting it as their top need. The next three needs score similarly, covering benefits and finding and communicating with healthcare professionals.

Comments made in this topic were around being able to be heard and understood, and about integrating HSP in with other roles that people have in life. Communication was also mentioned in the context of being able to share details of symptoms with others. Several mentioned having a positive mindset, an active mind, and a higher quality of life. A few seek further information about work, including redundancies, and others seek more information on accessibility and understanding benefits.

Treatments   

This topic included 19 needs:

Table 15 – Treatment needs

Treatment Needs

1st Rank

Total Votes

Score

Percent

Treatment options for spasticity

146

219

953

100%

Treatment options for pain

32

141

510

54%

Treatment options for bladder issues

26

131

443

46%

Treatment options for fatigue

21

142

445

47%

Better information on existing treatments

24

139

418

44%

Understanding how effective treatments are

5

81

193

20%

Setting up a patient registry for participation in trials

7

73

177

19%

Treatment options for other ‘pure’ HSP symptoms

7

63

176

18%

Treatment options for ‘complex’ HSP symptoms

9

58

167

18%

Development of new treatments

8

66

162

17%

CBD oils/cannabis based treatments

2

62

141

15%

Increased patient involvement in clinical trials

4

55

131

14%

Functional electrical stimulation

6

40

124

13%

Clarity on who is/isn’t helped by a treatment

1

53

123

13%

Genetic treatments

6

29

80

8%

Understanding potential side-effects of treatments

1

34

70

7%

Understanding consequences of taking multiple treatments

2

26

64

7%

Surgery options

0

29

49

5%

Re-purposing existing medications for HSP

0

15

26

3%

Treatment options for spasticity is the clear top need in this topic, with 46% of respondents identifying it as their top need. The next four needs score similarly, and are treatment options for the other common symptoms: pain, bladder and fatigue, and having better information on existing treatments. The next block of  needs scores in the range 13-20%, indicating a broad spread of opinion.

Respondents identified other pure or complex HSP symptoms that they felt treatment needs for. Symptoms identified by more respondents were: Eyesight, memory, balance, cognitive issues and bowel problems. Other symptoms mentioned included: incontinence, breathing, swallowing, sexual function, stiffness, depression, stress, anxiety, neuropathy, and upper body involvement. Some identified needs around stretching, exercise, walking, strength, changes with changing emotion, and counselling. Several said all of these treatment needs were important.  

Some comments were made around other treatment options. Physical treatments mentioned included swimming, massage, yoga, exercise and stretching. Other treatments included art and music therapy, meditation and counselling. Suggestions were also made around, herbs, vitamins, cannabis, botox and diet/weight control.

Information about HSP  

This topic included 9 needs:

Table 16 – Information about HSP needs

Information about HSP Needs

1st Rank

Total Votes

Score

Percent

Predicting how HSP will progress in individuals

76

228

838

100%

Understanding the burden of HSP symptoms

68

194

713

85%

Understanding what the affected genes do

71

170

595

71%

Understanding the day-to-day variation in HSP symptoms

16

194

515

61%

Predicting if other HSP symptoms will start over time

13

154

446

53%

Understanding the prevalence of HSP symptoms

26

130

428

51%

Setting up a patient registry for understanding HSP

21

123

326

39%

Understanding which are the more common types of HSP

5

103

234

28%

Understanding regional differences in prevalence of types of HSP

1

32

67

8%

Predicting how HSP will progress in individuals is the top need in this topic, with ‘understanding the burden of symptoms’ and ‘understanding what the affected genes do’ forming a top three group of needs, with similar numbers of people scoring these as their top need.

Comments on this topic were generally around specific pieces of information, including about passing HSP on to children and looking at childhood development milestones and understanding potential for genetic treatments. Several wanted to know information sources for all HSP information.

Mention was made about getting healthcare professionals to share information between themselves more, about getting more involvement from pharmaceutical companies, and more media coverage.

Topic Ranking

Respondents were asked to identify which of the five topics they considered to be the most important and which they considered to be second most important. 305 respondents answered these questions. Overall, 40% of people selected Living with HSP to be the most important category.

To rank the order of all topics, the number of votes for each of the most important topics has been doubled and added to the number of votes from second most important topics to give an overall score:

Table 17 – Needs Topic Ranking

Needs Topic

1st Rank

2nd Rank

Score

Living with HSP

122

79

323

Treatments

97

73

267

Wellbeing

35

70

140

Diagnosis and inheritance

35

47

117

Information about HSP

17

36

70

Living with HSP was the highest scoring topic in each country except Brasil, where Treatments was the highest scoring topic.

Respondents also identify which topics they considered to be the most important for different groups of people, and the number of votes are shown, with the topics scoring the highest and second highest votes shaded dark and light green respectively. Between 187 and 298 respondents answered these questions. Several people noted it was difficult to select these topics.

Table 18 – Needs Topic Ranking for Groups of People

Needs Topic

Starting HSP Journey

Advanced HSP

Young with HSP

Older with HSP

With ‘pure’ HSP

With ‘complex’ HSP

Carers

Friends and family

Living with HSP

50

81

116

92

82

68

75

70

Treatments

32

118

95

72

103

130

31

18

Wellbeing

7

86

25

118

44

39

45

41

Diagnosis and inheritance

56

9

24

4

12

8

8

14

Information about HSP

42

4

17

1

12

9

53

63

Needs Summary

The needs data can be used by HSP support groups, medical professionals and others with an interest in supporting those with HSP to identify how well the identified needs are met. Although wellbeing needs are addressed, The WEMWBS wellbeing scores have not been examined in this analysis because the questions were around identifying what the important needs are, rather than exploring how well they have been met.

There are several patterns in the topic ranking data:

  • Diagnosis and inheritance is considered most important for those starting their HSP journey, and scores in the bottom two in every other group of people.
  • Information about HSP is considered to be second most important for those who care for people with HSP and for friends and family of people with HSP. It is in the bottom two of every other category except those starting their HSP journey.
  • Wellbeing is considered most important for older people with HSP and second most important for those with advanced HSP.
  • Living with HSP is considered the most important or second most important category in all groups except those with advanced HSP, where this topic scores a close third.
  • Treatments is considered most important for those with advanced HSP, pure HSP and complex HSP, and second most important for young people with HSP, and third most important for older people with HSP.

Looking at overall patterns:

  • Pure and complex HSP have similar distributions of scores, indicating that type of HSP does not change people’s needs.
  • Wellbeing is seen to become more important as either age or HSP progress.
  • Meeting needs around Living with HSP has the potential to benefit the greatest number of people, and is particularly seen as important for young people with HSP and those providing support to those with HSP.
  • Treatment needs are seen as important in all groups of people with HSP.

Coronavirus

Given the worldwide nature of the Coronavirus pandemic, the opportunity was taken to explore how peoples access to healthcare has been affected.

Number of Appointments

Respondents were asked to report if their number of appointments had changed as a result of Coronavirus Covid-19. The question did not seek to identify any particular types of healthcare appointments. 306 respondents answered the question.

Table 23 – Number of Appointments under Covid-19

Appointments

All

Well-being

UK

Brasil

USA

France

Netherlands

Canada

Australia

More

5%

(42.1)

1%

12%

4%

0%

5%

6%

6%

Similar

36%

45.4

28%

20%

46%

54%

10%

38%

69%

Fewer

59%

41.1

71%

68%

50%

46%

85%

56%

25%

The group with a similar number of appointments had a higher wellbeing than the group with fewer appointments. There were no differences between use of mobility aids and changes in the number of appointments. The countries where the greatest proportion of people had fewer appointments were The Netherlands and the UK. The countries with the greatest proportion of people with similar numbers of appointments were Australia and France.

Comments about availability provided a little more context. Those answering fewer appointments had the greatest range, with some reporting that all appointments have been cancelled, and others reporting that their appointments had been delayed or postponed. Some respondents had elected to not to go to appointments because they were isolating and not wishing to increase their potential exposure to coronavirus.

Some commented that the number of appointments had remained the same, but the method had changed, for example now done by phone. A few people noted impacts from their physio or PT appointments being cancelled. Others noted that nothing had changed, and they were able to go to all of their appointments.

Availability of Digital Appointments

One of the main changes with Covid-19 lockdowns is the advice to maintain social distance between people, and a consequential proportion of people working at home. There has been a sharp uptake in the use of digital communications and digital meetings. Respondents were asked if they had digital healthcare appointments before Covid-19 and since Covid-19. 302 respondents answered these questions.

Before Covid-19 digital healthcare appointments were not available to 60% of respondents, with the UK (not available for 76%) and Canada (not available for 75%) having the least access. As shown in the following chart 16% of respondents had access to digital appointments. Of these, most had a few appointments.

The Netherlands had the greatest access with 42% having had appointments, followed by Canada (25%) and USA (22%). The remaining 25% of respondents either could not access digital appointments or did not want to access them. All differences in wellbeing are within 3 points of the average, so pre-covid digital access is not a factor in wellbeing.


Since Covid-19 digital healthcare appointments have been used by 47% of respondents, with most having had a few appointments. The proportion of people not having access to these has decreased to 28%, and the proportion not being able to or not wanting to access these remains the same. Since Covid-19, those who do not have access to digital appointments have a wellbeing score of 40.4, 2.6 points below average, which is approaching the threshold to indicate a relevant factor in wellbeing. Those who use digital appointments have a wellbeing score of 44.0. The UK, France and Brasil have the greatest proportion where digital appointments are not available (53%, 57% and 79% respectively). The Netherlands, USA, Canada and Australia have the highest proportion of digital appointments (available for 80%, 67%, 63% and 63% respectively).

The change in availability is similar in the USA, Australia, the Netherlands, Canada, and the UK, each having the proportion of people having digital appointments increasing by between 38% and 44%. The smallest increase in digital appointments is in Brasil (13% more) and France (27% more).

Opinions of Digital Appointments

Respondents were also asked if they thought digital appointments were better than face-to-face appointments. 299 respondents answered, with 58% saying that face-to-face appointments were better than digital appointments, 17% saying that these were similar and 2% saying that digital are better than face-to-face. The remaining 21% said the question was not relevant for them.

The proportions of answers are broadly similar across use of mobility aids and countries. The small number of people identifying digital to be better than face-to-face were in the UK, Brasil and the USA. Those saying digital and face-to-face are similar are more often in Australia (38%) and the Netherlands (30%). Of those saying face-to-face are better than digital, the highest proportions are in Canada (75%), the Netherlands (70%) and France (69%), and the lowest proportions are in the UK (43%) and Australia (50%).

Respondents identified their key benefit for digital appointments. 199 respondents answered this question, selecting from a multiple choice question:

Table 24 – Benefits for digital appointments

Benefit

Respondents

Percentage

Reduced effort travelling

52

26%

Less time taken

40

20%

Less reliance on others to help

16

8%

Reduced costs

9

5%

Feels more personal

2

1%

Other

22

11%

There are no benefits

58

29%

The main benefits for digital appointments are around travel, with reduced effort and less time being the key factors, selected by almost half of respondents. The highest proportions identifying the key benefit as reduced effort travelling generally were those with the highest reliance on mobility aids. The highest proportion identifying the key benefit as less time taken were those who do not use mobility aids or those who use them some of the time.

Of the respondents saying other, reasons included that it was easier to see specialists from other locations more easily, that appointments were covid-safe, and people are able to send their questions in advance. Several commented that digital appointments with neurologists or other specialists were better than digital appointments with their doctors. Some prefer digital appointments because they are self-conscious about their changing mobility.

Respondents also identified their key disadvantage for digital appointments. 290 respondents answered this question, selecting from a multiple choice question:

Table 25 – Disadvantages for digital appointments

Disadvantage

Respondents

Percentage

Less chance to show symptoms

152

52%

Feels less personal

46

16%

Issues with technology

28

10%

Feels less important

15

5%

Miss the opportunity to travel

2

1%

Other

16

6%

There is no disadvantage

31

11%

 Over half of respondents identify that they have less chance to show their symptoms with digital appointments, and the proportion is very similar across the use of mobility aids. This is the key disadvantage identified with digital appointments.

Of those who said other, reasons include appointments feeling very short or feeling rushed, not being taken as seriously as a face-to-face appointment. Some noted the lack of eye-to-eye contact means it feels like less information being conveyed, and others miss out on interacting with others who have HSP at clinics.

Digital Appointments in the Future

Respondents were asked if they would like to use digital healthcare in the future. 308 respondents answered, with approximately equal numbers saying Yes, No and Not sure. Differences in wellbeing scores for these answers were smaller than 3 points, indicating this is not a factor affected by wellbeing.

Comments to this question were generally re-expressing the advantages or disadvantages depending on the opinion. Notable comments include observing that face-to-face appointments are more memorable than digital appointments, and that with digital appointments it is more easy to hide things like personalities and mental health issues. Many people have mixed views about this, and there are many who have not had digital appointments who would be willing to try. Despite the disadvantages discussed, several expressed the view that it is better to have digital appointments rather than no appointments at all.

Respondents were also asked about using digital exercise classes or activities, for example Pilates or training. 308 respondents gave answers.

Table 26 – Digital Exercise

Disadvantage

Respondents

Percentage

Wellbeing

I already use these

56

18%

47.4

I would like to use these

93

30%

40.8

I am not sure

78

25%

42.3

I do not want to do this

81

26%

42.3

Approximately 1 in 5 already use digital exercise classes, and their wellbeing is higher, 4.5 points greater than average. Almost 1 in 3 would like to use these, and they have a slightly lower wellbeing. The remaining people, approximately half, are either not sure or do not want to do this, and their wellbeing is similar to the average wellbeing. The results are shown in the following figure.

The greatest uptake in digital classes is in France where 33% of people use them, and the smallest uptake is Brasil with 9%. Brasil has the greatest proportion of people wanting to use digital classes, with 48% wanting to do this. There is little variation in proportions across the use of mobility aids.

Comments on digital exercise vary depending on the view. Several commented that they did not know this type of class existed, and the would be willing to give it a try. Most of the comments made were negative, with many lacking interest or motivations to take part in these classes, and others say they cannot do these types of classes because of things like fear, lack of space, lack of technology, they feel it is not personal enough or they perceive HSP to be too complex to do this type of class. The positives identified include it being cheaper, more convenient, getting enjoyment from them, and feeling the benefits of being able to exercise. Like digital healthcare appointments, several said it is better to have some digital exercise rather than none at all.

Life with HSP

Do you Consider Yourself to be Disabled?

There are 314 respondents who answered this question, as shown in the following grid.

Table 27 – Identify as Disabled?

Consider Self Disabled?

Yes

No

Wellbeing Yes

Wellbeing No

All

256 (82%)

58

42.2

45.1

Mobility 0-1

27 (50%)

27

40.9

46.2

Mobility 2-3

43 (74%)

15

40.1

(47.9)

Mobility 4-5

88 (87%)

13

42.8

(42.6)

Mobility 6-7

42 (98%)

1

43.4

-

Mobility 8-9

56 (97%)

2

42.8

-

Four fifths of respondents consider themselves to be disabled and one fifth do not. Although the proportion of people who identify as disabled increases with reduced mobility, there are both people who do not use mobility aids who consider themselves disabled and those who use a wheelchair all or most of the time who do not consider themselves to be disabled. This indicates that mobility is not the only factor in individuals deciding if they are disabled or not.

Those who consider themselves to be disabled have a lower wellbeing score than those who do not. Once mobility aids are taken into account there is a clearer distinction on wellbeing, with those identifying as disabled who do not use mobility aids or who use them some of the time have a lower wellbeing. Once mobility aids are used all or most of the time the wellbeing is similar to the overall average, irrespective of if people consider themselves to be disabled.

Did you get a description of HSP when you were diagnosed?

There are 304 respondents who answered this question, as shown in the following grid. Wellbeing scores are also calculated.

Table 29 – Description of HSP on diagnosis?

HSP Description on diagnosis?

Yes

No

Wellbeing Yes

Wellbeing No

All

180 (59%)

124

44.0

41.5

This shows that over half of respondents got a description on diagnosis, and those who did have a slightly better wellbeing. It is noted that the wellbeing questions are focussed on recent times, and time since diagnosis was not asked. The proportion getting the description is similar across mobility aid usage and country. The only country where fewer people got a description than didn’t on diagnosis was Canada, where 44% received a description.

How well do you understand HSP?

There are 253 respondents who answered this question, as shown in the following grid.

Table 30 – How well do you understand HSP?

How well do you understand HSP?

Respondents

Wellbeing

Very Well

58 (23%)

48.4

Well

129 (51%)

43.2

Somewhat

63 (25%)

39.7

Not at all

3 (1%)

-

This shows that half of respondents consider that they understand HSP well. Approximately a quarter consider they know HSP very well, and another quarter consider they know HSP somewhat. Those that know HSP better have a higher wellbeing (5.5 points above average), and those that know HSP somewhat have a lower wellbeing (3.2 points below average).


The proportion that know HSP well is relatively constant across the use of mobility aids, although there is a slight upward trend suggesting that peoples knowledge of HSP increases with the length of time they are affected by HSP. Across the countries, between 52% and 71% of people know HSP well, except in Brasil, where 61% know HSP somewhat. Those in Brasil are the majority (75%) of those who know HSP somewhat.

How well do you feel medical professionals understand what it is like to live with your HSP?

There are 235 respondents who answered this question, as shown in the following grid.

Table 31 – How well do you feel medical professionals understand your HSP?

How well do medical professionals understand your HSP?

Respondents

Wellbeing

Very Well

29 (12%)

48.6

Well

65 (28%)

43.0

Somewhat

75 (32%)

43.6

Not at all

66 (28%)

37.1

This shows that one in eight respondents consider that medical professionals understand their HSP very well, and those respondents have the highest wellbeing, 5.7 points above average. Respondents for the other answers are split approximately equally, and those who thing that medical professionals do not understand their HSP at all have the lowest wellbeing, 5.8 points below average.

There is a lower proportion (less than 10%) of those that think medical professionals know their HSP very well for those who use frames or wheelchairs all or most of the time. Those who do not use mobility aids generally (41%) feel medical professionals know their HSP somewhat.

Across the countries, most in the Netherlands think medical professionals know their HSP well. In Brasil and France most think medical professionals know their HSP somewhat. In the UK, USA and Australia most think medical professionals do not know their HSP at all.

Have you ever delayed or avoided seeking medical advice because you felt embarrassed about your HSP?

There are 313 respondents who answered this question, as shown in the following grid. Wellbeing scores are also calculated.

Table 32 – Delayed/avoided seeking advice due to embarrassment?

Delay/avoid seeking advice?

Yes

No

Wellbeing Yes

Wellbeing No

All

48 (15%)

265

35.6

44.2

This shows that about one in seven people with HSP have delayed or avoided seeking medical advice because they have felt embarrassed about their HSP. These people have a lower wellbeing, 7.3 points below average, indicating that being embarrassed about their HSP is an important factor in wellbeing.


There is only a small variation in this proportion across use of mobility aids, indicating that it is not mobility aids themselves that make people embarrassed about their HSP.

Have you ever felt that a medical professional did not believe the extent or severity of your symptoms?

There are 315 respondents who answered this question, as shown in the following grid. Wellbeing scores are also calculated.

Table 33 – Extent or severity of symptoms not believed?

Extent/severity not believed?

Yes

No

Wellbeing Yes

Wellbeing No

All

173 (55%)

142

41.0

45.3

This shows that more than half of people with HSP feel that the extents or severity of their symptoms have not been belied by medical professionals. Those who feel this have a lower wellbeing than those who have had the extent/severity of their symptoms believed.

There is little variation in this proportion across use of mobility aids. Doubts on extent or severity occur for 56% - 61% of respondents, except for those using walking sticks all or most of the time, where the extent or severity of their symptoms is believed the most (doubts for 46%). 74% of those from Brasil feel that the extent or severity of their symptoms has not been believed.

Have you ever felt that you did not receive adequate or appropriate treatment because a medical professional did not take you seriously?

There are 313 respondents who answered this question, as shown in the following grid. Wellbeing scores are also calculated.

Table 34 – Inadequate treatment as not being taken seriously?

Inadequate treatment?

Yes

No

Wellbeing Yes

Wellbeing No

All

174 (56%)

139

40.5

46.0

This shows that more than half of people with HSP feel that they have not received adequate or appropriate treatment because they have not been taken seriously. Those who feel this have a lower wellbeing than those who have been taken seriously. There is little variation in this proportion across use of mobility aids. Perceptions of inadequate treatment occur for 49% - 64% of respondents, depending on mobility aid use, but there are no strong patterns. 74% of those from Brasil feel that they have received inadequate treatment and not been taken seriously.

 

What would a cure for HSP look like? 

There are 312 respondents who answered this question, as shown in the following grid.

Table 35 – What would a cure for HSP look like?

What would a cure for HSP look like?

Respondents

Something which stops the progression of my symptoms

91 (29%)

Something which reverses the symptoms I have

140 (45%)

Something which prevents the next generation from getting HSP

72 (23%)

Other

9 (3%)

This shows that the majority of people would consider that a cure for HSP would reverse the symptoms that they have. There was little variation in wellbeing between these answers. Comments around what a cure would look like generally rephrased one of the three options often with specific details added, or bought two of the options together.

Several went for one-word answers, my favourite of which was that a cure for HSP would be wonderous. One person expressed that a cure when they first started showing symptoms of HSP would have been reversal, but now their HSP is more advanced they would see a cure as just stopping progression. Another, referring to their adult child with complex HSP, observed that a cure to reverse damage would allow them to meet the adult their child they should have been.

Reversal of symptoms had the greatest proportion of respondents across all types of mobility aid, and across all countries, with two exceptions. An equal number of people selected stopping progression and reversal of symptoms in: those who use mobility aids some of the time, and those in the Netherlands.

Access to Healthcare

These questions explore how often people have appointments with various specialists and identifies how common surgery options are used to treat HSP.

Are you under the treatment of a specialist or neurologist for your HSP?

There are 315 respondents who answered this question, as shown in the following grid. Wellbeing scores are also calculated.

Table 36 – Under the treatment of a specialist?

Under treatment of a specialist?

Yes

No

Wellbeing Yes

Wellbeing No

All

256 (81%)

59

43.4

40.9

This shows that four out of five people with HSP are under the treatment of a specialist or neurologist for their HSP. Those who are under treatment have a slightly higher wellbeing than those who are not.

How frequently do you see a genetics team?

There are 307 respondents who answered this question, as shown in the following grid.

Table 37 – How frequently do you see a genetics team?

How frequently do you see a genetics team?

Respondents

Wellbeing

All

307

-

Never

150 (49%)

42.1

Once or twice

114 (37%)

43.6

A few times

23 (7%)

41.1

Every year or two

15 (5%)

(45.3)

Several times a year

5 (2%)

-

Monthly

0

-

More than monthly

0

-

This shows that around half of people with HSP have never seen a genetics team. Of those that have, most have seen the team once or twice, or a few times. A small number see their genetics team regularly.

Looking at use of mobility aids, there is a higher proportion of people who do not use mobility aids who have not seen a genetics team, otherwise the distribution is relatively even. Looking at countries, those in the USA have seen their genetics teams the least and those in France have seen their team the most.

How frequently do you see a neurologist?

There are 313 respondents who answered this question, as shown in the following grid.

Table 38 – How frequently do you see a neurologist?

How frequently do you see a neurologist?

Respondents

Wellbeing

All

313

-

Never

28 (9%)

45.2

Once or twice

55 (18%)

40.0

A few times

82 (26%)

43.0

Every year or two

87 (28%)

42.3

Several times a year

56 (18%)

44.8

Monthly

3 (1%)

-

More than monthly

2 (1%)

-

This shows that just over half of people with HSP have either seen a neurologist a few times or see them every year or two. There is a small number of people who see their neurologist monthly or more regularly.

Looking at use of mobility aids, there is a higher proportion of people who use mobility aids all or most of the time who have not seen a neurologist, otherwise the distribution is relatively even. Looking at countries, those in the USA see their neurologist most frequently, and are seen the least in the Netherlands.

How frequently do you see a physiotherapist?

There are 309 respondents who answered this question, as shown in the following grid.

Table 39 – How frequently do you see a physiotherapist?

How frequently do you see a physiotherapist?

Respondents

Wellbeing

All

309

-

Never

94 (30%)

42.7

Once or twice

24 (8%)

40.1

A few times

74 (24%)

39.8

Every year or two

15 (5%)

(43.3)

Several times a year

34 (11%)

47.6

Monthly

8 (3%)

-

More than monthly

60 (19%)

46.1

This shows that less than a third of people with HSP have never seen a physiotherapist. Those that have seen one tend to have seen them a few times or are seeing them more than monthly.

The distribution of results is fairly constant over the range of use of mobility aids, although those using mobility aids some of the time see neurologists more. Looking at countries, in the Netherlands and Australia physiotherapists are seen most often, and in the USA and France physiotherapists are seen the least.

How frequently do you see rehabilitation specialist?

There are 303 respondents who answered this question, as shown in the following grid.

Table 40 – How frequently do you see a rehabilitation specialist?

How frequently do you see a rehabilitation specialist?

Respondents

Wellbeing

All

303

-

Never

176 (58%)

41.8

Once or twice

38 (13%)

45.1

A few times

30 (10%)

42.8

Every year or two

21 (7%)

44.3

Several times a year

17 (6%)

(50.5)

Monthly

5 (2%)

-

More than monthly

16 (5%)

41.8

This shows that most (58%) of people with HSP have never seen a rehabilitation specialist. Those that have seen one tend to have seen them once or twice, or a few times.

The distribution of results is fairly constant over the range of use of mobility aids, although those using wheelchairs all or most of the time see more often. Looking at countries, these specialists are more commonly seen in the Netherlands and least often in the UK.

How frequently do you see specialists for other symptoms?

There are 301 respondents who answered this question, as shown in the following grid.

Table 41 – How frequently do you see specialists for other symptoms?

How frequently do you see specialists for other symptoms?

Respondents

Wellbeing

All

301

-

Never

111 (37%)

40.2

Once or twice

49 (16%)

44.3

A few times

70 (23%)

44.8

Every year or two

21 (7%)

44.3

Several times a year

37 (12%)

43.9

Monthly

3 (1%)

-

More than monthly

10 (3%)

(47.8)

This shows that around a third of people with HSP have never seen a specialist for other symptoms. Those that have seen one tend to have seen them a few times.  The proportion of people who have never seen another specialist is higher in those that do not use mobility aids (50%).

Specialists mentioned include; bladder/urologist, orthopaedics, orthotist, eyesight, bowels, nutrition, psychologist, occupational therapist, paediatrics, and gynaecologist.

Looking at countries: In the USA and Canada around 75% have seen another specialist. In the UK, Brasil, and Australia, those who have seen specialists (55% to 70%) tend to have seen them a few times. The distribution is similar in most countries, although the proportion seeing the specialist several times a year or more regularly is highest in the USA (27%) and Australia (20%).

Have you had Surgery for HSP?

Approximately 300 respondents answered this question, as shown in the following grid.

Table 42 – Have you had surgery?

Have you had surgery?

Yes

No

Tendon release

30 (10%)

271

Baclofen Pump

22 (7%)

278

Muscle release

11 (4%)

283

Selective dorsal rhizotomy (SDR)

3 (1%)

291

Other

13 (5%)

248

This shows that tendon release surgery is the most common surgery for those with HSP, followed by implanting a baclofen pump. Other surgeries mentioned included several which may not be related to HSP. Those mentioned include cataracts surgery, hip or knee replacement, foot reconstruction/toe re-positioning, and gastric sleeves (for weight loss for easier mobility).

Wellbeing scores for those with baclofen pumps or tendon release were within 0.1 of the overall average, indicating that having surgery is unlikely to be a factor in wellbeing, although the survey has not captured any changes in wellbeing resulting from the surgeries.

The table below shows that around 80% of people with HSP have not had surgery for their HSP, around one in 6 have had one type of surgery, and a small number have had more than one type of surgery. Surgery is more common in the USA (27% having had surgery) and Australia (25% having had surgery). Surgery is least common in Brasil and Canada (88% not having had surgery in each country).

Table 43 – Number of types of surgeries

Number of types of surgeries?

Respondents

None

259 (82%)

1

39 (12%)

2

15 (5%)

3

2

4

1

5 or more

0

Wellbeing Conclusions

Throughout this report the different factors which have been shown to have the greatest association with people’s wellbeing have been identified. The tables below draw together the factors which have the strongest associations with people’s wellbeing, either positive or negative. The number of respondents given is the total number which have or don’t have the factor, irrespective of if they gave a wellbeing score. The needs reported in Section 8 identified that information on improving mental health and wellbeing was a key need, and many of the needs identified have large over-laps with the issues identified in these tables.

Positive Wellbeing Effect

These factors are associated with people who have a wellbeing which is better than average.

Table 44 – Positive Wellbeing Factors

Factor

Respondents

Wellbeing

See rehabilitation specialist several times a year

17

(50.5)

(+7.6)

Medical professionals understanding your HSP very well

29

48.6

+5.7

Understanding HSP very well

58

48.4

+5.5

Mobility aids some of the time, not consider yourself disabled

15

(47.9)

(+5.0)

See specialist for other symptoms more than monthly

10

(47.8)

(+4.9)

See physiotherapist several times a year

34

47.6

+4.7

Already take part in digital exercise classes

56

47.4

+4.5

Not using mobility aids and not considering yourself disabled

27

46.2

+3.3

See physiotherapist more than monthly

160

46.1

+3.2

Getting adequate treatment after having been taken seriously

139

46.0

+3.1

Negative Wellbeing Effect

These factors are associated with people who have a wellbeing which is lower than average.

Table 45 – Negative Wellbeing Factors

Factor

Respondents

Wellbeing

Delaying or avoiding advice due to embarrassment about HSP

48

35.6

-7.3

Medical professionals not understanding your HSP at all

66

37.1

-5.8

Having SPG7 (diagnosis)

30

37.9

-5.0

Understanding HSP somewhat

63

39.7

-3.2

Seeing a physiotherapist a few times

74

39.8

-3.1

Several of these factors are related to understanding of HSP, either peoples own or that of medical professionals they see. Other factors are around perceptions of HSP, embarrassment or the point at which people consider themselves to be disabled. There are also factors around the frequency which some types of medical professionals are seen.  

Those who understand HSP have a significantly higher wellbeing than those who understand it somewhat, and Section 8 identifies details of the types of information which people find important. People particularly wish to know about the potential progression of HSP, the burden of symptoms and day-to-day progression.

Understanding of HSP is also reflected in the needs reported in Section 8. Here, needs around having better information on treatments, on finding and communicating with relevant healthcare professionals were strongly identified needs, with several making comments on the need to be heard and understood. Communication issues may be relevant when considering the Ox-PAQ social engagement domain results.

The Importance of Wellbeing

Many of the factors in these tables are not connected with mobility, symptoms or other issues directly related to HSP. The wellbeing factors may therefore not form part of routine discussions with medical professionals which frequently focus on mobility, pain, continence and the other direct issues or symptoms.

It is important to remember that it is possible to take action to improve some of these other factors. It is not necessary to accept, for example, that people are embarrassed about their HSP or lack understanding about HSP. Help is available for some factors, and getting such help may improve wellbeing.

These results show that those that already take part in digital exercise classes have a higher wellbeing, and there are many people who would like to take part in such classes, particularly in Brasil, USA and Canada. Needs around stretches, exercises and appropriate physical activities were identified as important in Section 8.

People may wish to consult with a doctor or other professional to advise on the best approach for any such change they wish to make. Potential areas where changes could be made include:

  • Decreasing embarrassment about HSP 
  • Increasing personal understanding about HSP 
  • Helping medical professionals understand what HSP is like for you 
  • Seeing relevant medical professionals at appropriate intervals

Helping healthcare professionals understand HSP and its effects on individuals is an important factor with potential to improve wellbeing in many countries. The effect appears to be more marked in Brasil where people with HSP are often not taken seriously or not believed about their symptom severity.



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