Rare disease day 2024 is here, and I am very pleased to publish the highlights from all ten years of surveys. 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/1Yr9-UbbS3QNJwpZIAWIF_aamEoCqLP4o/view
In the post below, table and section 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. Blogger is not very good at transposing the formatting and alignment from Word here. Please use the link above for a nicely presented version!
HSP Survey Highlights. Views
of 1,740 People with Hereditary Spastic Paraplegia (HSP) who answered ten on-line
surveys 2013-2022, linking Wellbeing, Mobility and Life with HSP.
This
paper presents the highlights of all ten surveys undertaken 2013 to 2022, and
reported on rare disease days 2014 to 2023. The full details of each survey can
be found on my blog.
Overall,
there have been 1,740 people who completed at least one survey, predominantly
from the USA, UK, Brasil, France and Australia. Of these people, 530 people (30%)
have answered more than one survey, and 1,210 (70%) people have answered one
survey. In total there are 2,784 answers across all surveys. Table 3 shows the
numbers of people completing more than one survey.
Table 3 – Answers
from respondents, highlighting those completing more than one survey
|
No.
Surveys?
|
Total
|
2013
|
2014
|
2015
|
2016
|
2017
|
2018
|
2019
|
2020
|
2021
|
2022
|
|
More than one
|
1577
|
47
|
53
|
56
|
115
|
144
|
191
|
246
|
219
|
272
|
234
|
|
One
|
1207
|
74
|
44
|
53
|
54
|
78
|
113
|
121
|
98
|
293
|
279
|
|
Total answers
|
2784
|
121
|
97
|
109
|
169
|
222
|
304
|
367
|
317
|
565
|
513
|
2) Contents and Survey Questions
The
following table shows the sections in this report and the year which that topic
was dealt with. Some sections have been removed from this blog version, shown in italics. This version includes shorter versions of results. In all
cases further information can be found in the full PDF of this writeup, and
also in the survey results of that year.
Table 1 – Contents of this report
|
Section
|
Topic
|
Year(s)
|
|
1
|
Introduction (Full report)
|
-
|
|
2
|
Contents
and Survey Questions
|
-
|
|
3
|
Respondents (Full report)
|
-
|
|
4
|
HSP
Analysis and misdiagnosis
|
Every year
|
|
5
|
Wellbeing
|
2017 to 2022
|
|
6
|
Mobility
analysis
|
Every year
|
|
7
|
Change in mobility and Disability (full
report)
|
All years
|
|
8
|
Symptoms
|
2013 and 2018
|
|
9
|
Medication
and Surgery
|
2014, 2019, 2020
|
|
10
|
Pain
|
2017 and 2022
|
|
11
|
Bladder
|
2016 and 2021
|
|
12
|
Bowel
issues
|
2016
|
|
13
|
Fatigue
|
2016
|
|
14
|
Depression
and Acceptance
|
2015, 2017, 2021, 2022
|
|
15
|
Modifications
around the home
|
2015
|
|
16
|
Walking,
Trips and Falls
|
2017 and 2021
|
|
17
|
Exercise
and Relaxation
|
2014 and 2019
|
|
18
|
Menstrual
Health
|
2022
|
|
19
|
Sleep
|
2018
|
|
20
|
HSP
Research
|
2020 and 2021
|
|
21
|
Life
with HSP
|
2019 to 2022
|
|
22
|
Needs
|
2020
|
|
23
|
Employment (Full report)
|
2017 and 2022
|
|
24
|
Wellbeing
Conclusions
|
2017 to 2022
|
|
25
|
Links to surveys and outputs (Full report)
|
-
|
|
26
|
Acknowledgements
|
-
|
4) HSP Analysis and Misdiagnosis
In
each survey the first questions ask if people had HSP and the method of their
diagnosis. Overall, 921 (53%) said that they knew which type of HSP they had. HSP
types with at least ten people reporting a diagnosis are shown, along with the
gene which is mutated in that type of HSP. 47 different types of HSP have been
identified by the respondents.
The
most common answer is type 4 – SPG4 (indicating a mutation in the Spast gene). There
are more than 50 people indicating either SPG7 (a mutation in the paraplegin
gene) or SPG11 (a mutation in the spatacsin gene). There is a small number of
people who note that they are affected by two or three HSP genes.
5) Wellbeing
(2017-2022)
In
order to assess the wellbeing of people with HSP, respondents since 2017 have completed
the Warwick-Edinburgh Mental Well-being scale (WEMWBS). The table below shows
the average wellbeing score from year to year, and the number of respondents answering
in each year. Over the six years the average score has ranged between 45.6 and 47.4
except for 2020 when the average was 42.9. It is presumed that the drop in 2020
was as a result of the various lockdowns and other restrictions in place due to
coronavirus/Covid-19. Most respondents
have a wellbeing in line with average scores for the UK population.
6) Mobility Analysis
Around
half of respondents use walking sticks/poles/crutches/ canes, two fifths use wheelchairs/mobility
scoters and three out of ten use walking frames/rollators. The distribution of
mobility aid use has remained broadly similar from year to year. Table 9 shows
the aggregated total results and the percentage of respondents. These add to
more than 100% as some people use more than one type of mobility aid.
Table 11 – Use
of mobility aids
|
Mobility
Aids Used - Summary:
|
Respondents
|
Percentage
|
|
Using sticks/poles/crutches/canes
|
1439
|
52%
|
|
Using Wheelchair/Mobility Scooter
|
1145
|
41%
|
|
Using Walking Frame/Rollator
|
789
|
28%
|
|
Using Orthotics/AFO/Insoles
|
704
|
25%
|
|
Using FES
|
113
|
4%
|
In
the remainder of this paper, whenever “sticks” are referred to as a mobility
aid, this term includes poles, crutches, and canes. Whenever “frames” are
referred to this includes both walking frames and rollators. Whenever “chairs”
are referred to this includes both wheelchairs and mobility scooters. Whenever
AFO is referred to it includes orthotics, AFO and insoles. The results are simplified into five broader groups;
Table
12 – Overview of
mobility aids used
|
Mobility
Aids Used - Overview:
|
Respondents
|
Percentage
|
Mobility Score
|
|
Those without aids
|
482
|
17%
|
0-1
|
|
Those who use mobility
aids some of the time
|
592
|
21%
|
2-3
|
|
Those who use sticks
most/all of the time
|
867
|
31%
|
4-5
|
|
Those who use frames
most/all of the time
|
356
|
13%
|
6-7
|
|
Those who use chairs
most/all of the time
|
482
|
17%
|
8-9
|
Overall,
the distribution of these results from year to year are similar. For example,
in each year between a quarter and a third of people use sticks all or most of
the time. When looking at wellbeing, the
average scores for each of these categories is usually within 3 points of the
average. However, those without mobility aids have higher wellbeing, and those
who use frames or chairs most or all of the time have the lowest wellbeing.
Favourite mobility aids (2022)
In
2022 respondents were asked what their favourite mobility aids were. There were
386 people who gave an answer. There were 11 answers given by at least 10
people, as shown:
Table 13 – Favourite
mobility aids
|
Mobility
aids
|
Respondents
|
|
Walking sticks/canes
|
105
|
|
Walking frame/rollator
|
78
|
|
Wheelchair
|
59
|
|
Mobility scooter
|
35
|
|
Crutches
|
25
|
|
Electric wheelchair
|
24
|
|
Walking poles
|
18
|
|
Orthotics/AFO
|
16
|
Disability (2017 to 2022)
In
each year since 2017 people answered the question “Do you consider yourself to
be disabled?”. Around 80-85% of people with HSP consider themselves to be
disabled. The proportion of people who identify as disabled increases with
reduced mobility, however 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 mobility
is not the only factor in individuals deciding if they are disabled or not. In
2022 respondents described the point at which they have or would describe
themselves as disabled, with responses grouped into different categories,
shopwing those mentioned by more than 20 people:
Table 18 – Point
of considering self as disabled
|
Disabled
point
|
People
|
|
On diagnosis
|
18
|
|
With difficulty walking
|
64
|
|
Needing to use mobility
aids, or needing mobility aids all the time
|
74
|
|
When unable to do certain
activities
|
46
|
|
Needing
help from other people, or needing more help from others
|
27
|
The most common reasons for people considering
themselves to be disabled are points along their use of mobility aids or points
along their changes to their mobility (including falling or difficulties
walking). Other reasons include being no longer able to undertake certain
activities or needing help from other people to be able to do certain things. Some
people regard themselves as disabled at their point of diagnosis, at the point
that they need benefits or when they have to stop working. A few people use
other symptoms or the perceptions of others as the point they regard themselves
as disabled.
8) Symptoms (2013 and 2018)
The
2013 survey asked people to identify how much each of 13 different HSP symptoms
affected them. For the 2018 survey the list was expanded to 36 symptoms, and people
were asked how each affects them.
Table 19 – Answers
and Symptom Grouping
|
Answer
|
Grouping
|
Factor
|
|
“Do not have”
|
Do not have
|
1
|
|
“Occasional symptom” or “Minor symptom”
|
Minor symptom
|
2
|
|
“Frequent symptom” or “Regular symptom”
|
Moderate symptom
|
3
|
|
“Most of the time” or “All of the time”
|
Major symptom
|
4 or 5
|
Table
14 lists symptoms from the 2018 questionnaire which are major for more than 10%
of people, ordered by how people are affected by them.
Table 20 – Symptom
Impact
|
Symptom
|
Major
|
Moderate
|
Minor
|
Don’t
have
|
|
Difficulty
running
|
86%
|
5%
|
9%
|
1%
|
|
Difficulty
walking
|
70%
|
16%
|
13%
|
0.3%
|
|
Difficulty
using stairs
|
63%
|
17%
|
18%
|
2%
|
|
My
muscles are stiff
|
60%
|
21%
|
18%
|
1%
|
|
Loss
of balance
|
55%
|
24%
|
19%
|
2%
|
|
Get
more stiff when it is cold
|
55%
|
19%
|
20%
|
5%
|
|
My
muscles are weak
|
51%
|
25%
|
20%
|
4%
|
|
Fatigue
|
40%
|
28%
|
24%
|
8%
|
|
Affected
by bladder problems
|
37%
|
19%
|
23%
|
22%
|
|
Back/hip
pain
|
32%
|
23%
|
28%
|
17%
|
|
Leg/foot
pain
|
33%
|
21%
|
26%
|
20%
|
|
Clonus
(jumping feet or other muscle spasms)
|
24%
|
29%
|
33%
|
13%
|
|
Stress
|
23%
|
29%
|
30%
|
18%
|
|
Regular
falls
|
16%
|
26%
|
45%
|
12%
|
|
Poor
co-ordination
|
23%
|
20%
|
35%
|
22%
|
|
Pes
cavus (arched/high feet)
|
27%
|
8%
|
15%
|
50%
|
|
Depression
|
15%
|
21%
|
35%
|
29%
|
|
Hammer
toes (toes curl under)
|
24%
|
11%
|
15%
|
51%
|
|
Affected
by bowel problems
|
18%
|
16%
|
24%
|
41%
|
|
Loss
of vibration sensitivity in legs
|
18%
|
14%
|
27%
|
41%
|
|
Numbness
|
13%
|
20%
|
33%
|
34%
|
|
HSP
affecting sexual function
|
16%
|
13%
|
22%
|
49%
|
|
Feet
swell up
|
14%
|
13%
|
29%
|
44%
|
|
Get
more stiff when it is hot
|
11%
|
14%
|
32%
|
43%
|
|
HSP
affecting learning or memory
|
12%
|
12%
|
26%
|
50%
|
|
Fail
to remember dreams
|
14%
|
9%
|
22%
|
55%
|
There
are people who are affected all or most of the time by every one of the
symptoms listed (i.e. a major impact). The first five symptoms (loss of
balance, muscles being stiff and difficulty running, walking, using stairs)
relate to mobility and affect almost everybody. There are people who do not
have all of the other symptoms.
Symptom with the Greatest Effect (2018)
Respondents
described in a free text answer which symptoms gave the greatest effect or had
the biggest impact. 283 respondents answered this question. Some described one
or two symptoms and a small number listed many. There were 617 symptoms
identified, and the 7 reported by at least 25 people are shown
Table 21 – Greatest Effect Symptom
|
Symptom with greatest effect
|
Respondents
|
|
Fatigue
|
99
|
|
Difficulty
walking
|
64
|
|
Loss
of balance
|
53
|
|
My
muscles are stiff
|
41
|
|
Affected
by bladder problems
|
40
|
|
Back/hip
pain
|
39
|
|
Stress
|
29
|
This
table shows that fatigue is the symptom which has the greatest effect for the
greatest number of respondents. Difficulty walking and loss of balance affect a
smaller number of people, but still more than 50.
Symptom with Greatest Effect on
Wellbeing (2018)
The
majority of respondents answered both symptom questions and wellbeing
questions. This allows an examination of which symptoms have the greatest
effect on wellbeing. The assessment has been limited to symptoms where at least
30 respondents had given wellbeing scores across the impact categories. Depression
and stress have the greatest effect on wellbeing. For both of these symptoms,
those that have it all or most of the time have a significantly lower wellbeing
score, and those that don’t have it have a significantly higher wellbeing
score.
9) Medication (2014 and
2019) and Surgery (2020)
In
2019 the survey asked questions about the different medication that people take
for their HSP and its symptoms. In total 320 respondents answered this
question. There were 274 people who indicated that they took at least one
medication and 46 respondents who indicated that they did not take any
medication at all. This indicates that around 85% of people are prescribed at
least one form of medication for their HSP, and this proportion is slightly
higher than reported in 2014. Those who do not take medication either have not
started taking medication at all or have stopped taking medicine, either
because they do not like the side effects of the medicine or because they are
not noticing any benefits of the medicine.
The following grid shows the distribution of the number of medicines
against mobility.
Table 24 – Number
of respondents, number of medicines against mobility.
|
Mobility
Score
|
No medicine
|
1 Medicine
|
2 Medicines
|
3 Medicines
|
4 Medicines
|
5 Medicines
|
6 Medicines
|
Total
|
|
0-1
|
16
|
26
|
12
|
0
|
2
|
1
|
1
|
58
|
|
2-3
|
14
|
28
|
19
|
9
|
2
|
5
|
1
|
78
|
|
4-5
|
10
|
35
|
22
|
8
|
8
|
2
|
0
|
85
|
|
6-7
|
4
|
9
|
10
|
5
|
2
|
5
|
1
|
36
|
|
8-9
|
2
|
16
|
19
|
15
|
3
|
6
|
2
|
63
|
|
Total
|
46
|
114
|
82
|
37
|
17
|
19
|
5
|
320
|
|
Wellbeing
|
+3.2
|
+1.5
|
-0.6
|
-2.7
|
(-3.2)
|
(-2.6)
|
-
|
|
This
shows that generally those who do not take medication are the most mobile
although there are several whose mobility is not affected who take several
medications. For those whose mobility is affected by HSP there is a reasonable
spread of the numbers of medication taken across the mobility bands. The most
common number of medicines taken is 1 or 2. Those who do not take medicine have a better
wellbeing than those who take the larger number of medicines.
The
medicines fall into six general groups, with a number of other medications
grouped together in a seventh group. The group are:
Table 25 – Medication
Groups
|
Symptom
|
Number of medicines
|
Number of people
|
|
Spasticity/spasms
|
21
|
327
|
|
Pain/nerve pain
|
33
|
109
|
|
Bladder
|
12
|
64
|
|
Depression/anxiety
|
10
|
17
|
|
Bowel
|
3
|
8
|
|
Sleep/fatigue
|
2
|
2
|
|
Other
|
19
|
23
|
|
Total
|
100
|
550
|
The
table shows that there are more people taking medicine for spasticity or spasms
than in the other groups, whereas there is a higher number of types of medicine
used to treat pain or nerve pain. Baclofen is by far the most commonly used
medication for HSP with around half of people taking it, and accounting for
around one third of all medication taken.
The table below shows all of the
medications being taken by more than 5 pepole for spasticity and spasms for HSP
and selected medication from other areas. The table reports if the medication
is noted as being used to treat HSP by reference to HSP support/research group
websites and other similar places. The table also identifies if the medicine
has been reported in the literature as being used to treat HSP, by search of
the PubMed database.
Table 29 – HSP
Treatment Review
|
Medication
|
People taking medication
|
HSP Treatment? (HSP groups)
|
HSP Treatment? (PubMed)
|
|
Baclofen
|
178
|
Yes – SPF
|
Yes, many
|
|
Botulinum toxin A / Botox
|
26
|
Yes – SPF
|
Yes, many
|
|
Gabapentin
|
24
|
Yes – SPF
|
Trial: 17539946
|
|
Clonazepam
|
23
|
Yes – SPF
|
No
|
|
Oxybutynin
|
22
|
Yes – Gene Review
|
No
|
|
Tizanidine / Zanaflex
|
21
|
Yes – SPF
|
Trial: 7035623
|
|
Pregabalin
|
14
|
Yes -Review
|
No
|
|
Diazepam
|
12
|
Yes – SPF
|
Patient: 2803825
|
|
Amitriptyline
|
11
|
Yes - SPF
|
No
|
|
Mirabegron
|
11
|
Yes – Gene Review
|
No
|
|
Solifenacin
|
10
|
Yes – Gene Review
|
No
|
|
Dantrolene
|
9
|
Yes - SPF
|
Review: 20862796
|
|
Duloxetine
|
9
|
Yes - PLM
|
No
|
|
Ziclague
|
7
|
Yes - ASPEH
|
No
|
|
Pramipexole
|
7
|
Yes - HSPRF
|
No
|
This
table shows that there is no consistent source of information for the treatment
of HSP symptoms, and to find particular results often requires a lot of hunting
around. Several of the more commonly used medications do not have HSP specific
trial results published, which may prevent their consideration by medical
practitioners who are not so familiar with HSP. There may also be regional
variations in availability of or guidelines for prescribing certain medicines,
which has not been looked at.
Some
of the treatments being tried by individuals are not reported at all, and this
shows that some practitioners are being innovative and trying out different
medications.
9F) Have you had
Surgery for HSP? (2020)
Approximately
300 respondents answered this question in 2020. The table below shows that
around 20% of people with HSP have had surgery for their HSP and 80% have not. 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).
Looking
at the specific types of surgery, 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 leading
to easier mobility).
Table 31 – 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
|
10) Pain (2017 and
2022)
Pain from HSP
The
2022 survey included questions about pain. People answered if they got pain
from their HSP, and then the completed the Short-form McGill Pain Questionnaire
2. 503 respondents answered if they got pain:
Table 32 – Pain
from HSP
|
Pain from
HSP?
|
Yes
|
No
|
Wellbeing Yes
|
Wellbeing No
|
|
All
|
380 (76%)
|
123
|
-1.0
|
+3.2
|
|
Mobility 0-1
|
48 (71%)
|
20
|
+3.6
|
+9.9
|
|
Mobility 2-3
|
71 (76%)
|
22
|
-1.1
|
+3.6
|
|
Mobility 4-5
|
141 (77%)
|
42
|
-1.3
|
+1.9
|
|
Mobility 6-7
|
46 (74%)
|
16
|
-3.7
|
(+0.3)
|
|
Mobility 8-9
|
74 (76%)
|
23
|
-1.4
|
+2.1
|
This
shows that around three quarters of people get pain from their HSP, and pain is
independent of use of mobility aids. Those who do not get pain from their HSP
have a higher wellbeing than those who get pain from their HSP. The highest
wellbeing is from those who do not get pain from HSP and who do not use
mobility aids. The lowest wellbeing is from those who use walking frames all or
most of the time and who get pain from their HSP.
Average pain score
The
Short-form McGill Pain Questionnaire 2 (SF-MPQ-2) comprises 22 different
descriptions of pain, and respondents are asked to score each of these. The 22
items are also grouped into four sub-categories representing continuous pain,
intermittent pain, neuropathic pain, and affective descriptors of pain. All
scores are out of 10.
Table 33 – SF-MPQ-2
score, with pain from HSP
|
Mobility
|
Overall
|
Continuous pain
|
Intermittent pain
|
Neuropathic pain
|
Affective pain descriptors
|
|
All
|
3.02
|
3.58
|
2.86
|
2.79
|
3.10
|
The
overall average score for people who get pain from their HSP is 3, generally increasing
once mobility aids are used. Scores for continuous pain and affective pain
descriptors are generally higher, and scores for intermittent pain and
neuropathic pain are lower. Those not using mobility aids have the lowest
overall score, with the highest score for their continuous pain sub-category. Those
who do not get pain from their HSP score an overall average of 0.37, with
higher scores for affective pain descriptors and neuropathic pain.
Pain descriptors
The
following table shows the average score for the 6 highest scoring pain
descriptors. The table also shows the proportion of people who scored more than
0 (no pain) for each descriptor, grouped into three categories. A low score is for
anyone who scored that pain item between 1 and 3 points, a medium score for
people scoring between 4 and 7 and a high score for those scoring between 8 and
10.
Table 34 – HSP
pain descriptors and scores
|
SF-MPQ-2
Pain descriptors
|
Score
(pain=yes)
|
Score
(pain=no)
|
Low score
(1-3)
|
Medium score
(4-7)
|
High score
(8-10)
|
|
Tiring, exhausting
|
6.0
|
1.6
|
11%
|
35%
|
37%
|
|
Cramping pain
|
5.0
|
0.7
|
15%
|
35%
|
25%
|
|
Aching pain
|
4.7
|
0.3
|
12%
|
34%
|
24%
|
|
Tingling or “pins and needles”
|
3.9
|
0.7
|
22%
|
29%
|
17%
|
|
Numbness
|
3.9
|
1.1
|
24%
|
30%
|
15%
|
|
Shooting pain
|
3.7
|
0.2
|
19%
|
31%
|
13%
|
The majority of people (84%) identify that
their pain from HSP is tiring or exhausting, with more than a third of
people scoring that high or medium. This is the highest scoring of any of the
22 descriptors, with over three quarters scoring medium or high. The average
score for people who get pain from their HSP is 6.0, and the average score for
people who do not get pain from their HSP is 1.6.
Cramping pain and aching pain are identified by more than 70% of
respondents, with about a quarter scoring high and more than a third scoring
medium. About 60% of people score high or medium, with average scores of around
5 for people who get pain from their HSP.
Pain location
Respondents
used pain intensity descriptors for different areas of the body to identify
where people perceive their pain to occur. People perceive the greatest pain in
their legs, feet, back and hips. For these four areas where people feel the
greatest pain, over one quarter of people describe their pain as distressing,
horrible or excruciating.
11) Bladder (2016 and
2021)
Respondents in 2021 and 2016 were asked details
about urinating. Around 550 people answered these questions in 2021, with some
people not answering all of these questions. Respondents selected an answer
from a pick-list for each question. The answers are scored. In the analysis a
score of 3 is used to mark the onset of overactive bladder effects, and the
following ranges are used:
- 3-6 – mild effects – things happen
“occasionally”
- 7-10 – moderate effects – things
happen “some of the time”
- 11 or more – severe effects –
things happen “all” of “most” of the time.
Table 36 – Overactive
Bladder Score Results
|
Overactive
Bladder Effect Bands
|
2021 Respondents
|
2021 Wellbeing
|
2016 respondents
|
|
All respondents
|
544
|
-
|
-
|
165
|
|
0-2: No effects
|
96
|
18%
|
+2.0
|
34 (21%)
|
|
3-6: Mild effects
|
230
|
42%
|
+0.8
|
73 (44%)
|
|
7-10: Moderate effects
|
171
|
31%
|
-0.7
|
43 (26%)
|
|
11+: Severe effects
|
47
|
9%
|
-3.1
|
15 (9%)
|
This table shows that in 2021 more than 80% of
people with HSP have some degree of bladder issues. The majority (42%) of
people with bladder effects have mild effects, with less than one in ten (9%) having
severe effects. Wellbeing scores decrease with increasing bladder effects. The
distribution of people in these four categories is similar in 2016 and 2021.
In both years those who use mobility aids all or
most of the time have a slightly higher score than those who do not use aids or
who use them some of the time. The following bullets are a summary of the
individual questions from the 2021 results.
- Most people (70%) go to the toilet
8 times a day or less.
- Most people (65%) do not go to the toilet
during the night or go once.
- Most people (57%) have to rush to
the toilet sometimes or most of the time.
- Most people (62%) have urine
leaking before they get to the toilet occasionally or sometimes.
- Most people (59%) have their
bladder empty completely most of the time or all of the time.
There is a trend showing lower wellbeing for those
with increased bladder effects. The biggest issue to affect wellbeing is having
to rush to the toilet, those who have to do this all of the time have the lowest
wellbeing, and those who do not have to rush have the highest wellbeing. Those
who have urine leaking before they get to the toilet all or most of the time
also have lower wellbeing.
The survey in 2021 sought to identify how people
manage their bladder problems. People were given a picklist of eight options to
identify if and/or how they manage their bladder problems, with the top answers
shown.
Table 38 – Bladder
problem management
|
Main
method for managing bladder problems
|
Respondents
|
Wellbeing
|
|
Do not have
bladder problems
|
90
|
17%
|
+2.8
|
|
Take no
action to manage
|
133
|
25%
|
0
|
|
Medication to
relieve spasticity
|
126
|
23%
|
-2.0
|
|
Drink less
fluids
|
85
|
16%
|
-2.3
|
Most people (59%) use at least one of the methods
noted. The most common method used is taking medication to relieve spasticity
in the bladder, followed by deliberately drinking less fluids during the
day.
Around 80% of people with HSP have some degree of
bladder issues. Bladder issues can affect people who do not use mobility aids
just as there are some who use mobility aids all or most of the time who do not
have any bladder issues. Those with SPG7 tend to be more affected by bladder
issues than others.
The majority of people with bladder issues have mild
effects, with less than one in ten having severe effects. Needing to rush to
the toilet and having urine leak before getting to the toilet are common
issues. Most people feel their bladder does not empty fully at least some of
the time. A range of techniques are used to manage bladder issues for people
with HSP, with the most common ones being taking anti-spasticity medication and
drinking less fluids.
12) Bowel Issues (2016)
The
2016 survey asked nine questions from the ICIQ bowel survey. The answers are
scored giving a total
range for these nine questions between 2 and 37. These questions were answered
by 155 respondents. The following table gives a summary of the results;
Table 39 – Bowel
Results
|
Mobility
Score
|
Respondents
|
Minimum Score
|
Average Score
|
Maximum Score
|
|
Overall
|
155
|
2
|
9.5
|
20
|
There
are people in each mobility band who have no symptoms or minor symptoms, and
there are people within each mobility band who have several symptoms. The
minimum and average scores both generally increase as mobility issues increase.
For this analysis I am grouping bowel scores as follows;
·
5-11
= mild effects – things occur “rarely”
·
12-20
= moderate effects – things occur “some of the time”
·
At
least 21 = severe effects – things occur “most” or “all” of the time
Table 40 – Bowel
Severity
|
Mobility
Score
|
Respondents
|
No effects
|
Mild effects
|
Moderate effects
|
Severe effects
|
|
0-1
|
28
|
5 (18%)
|
15 (54%)
|
8 (29%)
|
0 (0%)
|
|
2-3
|
39
|
3 (8%)
|
29 (74%)
|
7 (18%)
|
0 (0%)
|
|
4-5
|
51
|
2 (4%)
|
32 (63%)
|
17 (33%)
|
0 (0%)
|
|
6-7
|
11
|
0 (0%)
|
8 (73%)
|
3 (27%)
|
0 (0%)
|
|
8-9
|
26
|
0 (0%)
|
12 (46%)
|
14 (54%)
|
0 (0%)
|
|
Overall
|
155
|
10 (6%)
|
96 (62%)
|
49 (32%)
|
0 (0%)
|
This
shows that around three fifths of people with HSP have mild bowel effects, and
around one third have moderate effects. A few people have no effects at all,
and no people showed severe effects. There is a general trend that the milder
effects tend to be with those with lower mobility issues, and the effects tend
to be more severe with those with higher mobility issues.
Urgency and Hesitancy
The
data shows that about a sixth of people with HSP have to rush to the toilet
most or all of the time, with a further third of people having to rush
sometimes. The data also shows that a third of people with HSP have to strain
to open their bowels most or all of the time, with a further third of people
having to strain sometimes. There is no clear pattern on how urgency varies
with mobility. There are about a quarter
of respondents wear pads or stain their underwear more than once a month. 58%
of respondents do not have this problem, and 19% have this less than once a
month.
13) Fatigue (2016)
Fatigue
is often noted as a symptom of HSP. The 2016 survey asked respondents to
complete the Modified
Fatigue Impact Scale, the Neurological Fatigue Index (Multiple Sclerosis) and the
Brief Fatigue Inventory.
Neurological Fatigue Index - MS
The
three statements which the most people agreed with were “If I've overdone
things, I know about it the next day” (81% agreeing), “Resting allows me to
carry on” (79% agreeing) and “I soon become weak after physical effort” (78%
agreeing).
Modified Fatigue Impact Scale 5
The
physical questions make the greatest contribution to the fatigue score across
all levels of mobility, scoring slightly more than the cognitive questions.
From this, we can see that both physical and cognitive factors play a part in
the fatigue of people with HSP.
Brief Fatigue Inventory
Following
interpretations of this scale by others for cancer, this analysis uses scores
less than 3 as mild, between 3 and 7 as moderate and greater than 7 as severe. Overall,
11% have mild fatigue, 62% have moderate fatigue and 27% have severe fatigue.
Therefore, around 90% of people with HSP have moderate or severe fatigue.
Fatigue Summary
Fatigue
is generally independent of mobility. Respondents who do not use mobility aids tended
to score slightly lower fatigue levels than those who use mobility aids all or
most of the time, but there is a wide spread of data, and there are some who do
not use mobility aids who have higher levels of fatigue than those who use
mobility aids all the time
14) Depression (2015,
2017, 2021 and 2022) and Acceptance (2021)
Depression (2015, 2017, 2021 and 2022)
Respondents
have answered the two question PHQ2 screening tool for depression in 2015,
2017, 2021 and 2022. Answers are scored, giving a total score between 0 and 6.
My analysis in 2021 indicated that a cut-on point of 3 was likely to be
appropriate for those with HSP, based on wellbeing scores.
Around
one quarter of respondents scoring 3-6 should be screened further for
depression and three quarters scoring 0-2 should not. This pattern is
consistent from year to year. Those who score at least three points have a
wellbeing which is significantly below average.
Several
respondents have answered the PHQ2 questions in more than one survey. The
analysis in 2022 examined this, looking at people who scored at least three
points in some years and not in other years, indicating that their depression
has changed from year to year.
Whilst
the proportion of people screening for depression is fairly constant, for some
people their score has improved, for some it has gotten worse, and for some
their score varies from year to year. This indicates that change in depression
may be principally related to factors other than HSP.
Acceptance (2021)
Part
of the journey with a progressive condition like HSP is accepting that you have
HSP. Respondents filled out the 8 question Acceptance of Illness Scale (AIS) in
2021 which is tool to measure acceptance of any disease. Each answer is scored with
total score ranging between 8 and 40.
A
low score indicates that the person does not accept their illness whereas a
high score indicates greater acceptance. For this analysis scores of 30 points
and above are considered to be good acceptance, scores between 20 and 30 points
are considered moderate acceptance, and scores below 20 are considered low
acceptance.
There
were 511 answers to these questions, and the overall average score is 21.7,
which is around the point between low and moderate acceptance. There were 40% of people with low acceptance,
44% with moderate acceptance and 16% with good acceptance. Acceptance of illness is lower when mobility
aids are used all or most of the time, and is higher when mobility aids are not
used.
There
is a strong link between acceptance and wellbeing. Those who have a low level
of acceptance have a wellbeing score 7.6 points below the average and those
that have a high acceptance have a wellbeing score 9.9 points higher than the
average.
15) Modifications
Around The Home (2015)
In
2015 I wanted to find out what types of modifications people had made around
the home and asked a set of questions about modifications in different areas of
the home. Overall, there were 99 respondents who answered these questions. An
overview of the data is presented below, noting that respondents may appear in
more than one of these categories:
Table 50 – Overview
of Modification Data
|
Situation
|
Mobility
0-1
|
Mobility
2-3
|
Mobility
4-5
|
Mobility
6-7
|
Mobility
8-9
|
Total
Answers
|
|
Total
number of respondents
|
20
|
18
|
24
|
21
|
16
|
99
|
|
Zero
modifications made
|
10
|
6
|
8
|
6
|
1
|
31
|
|
Furniture
moved within the property
|
3
|
0
|
2
|
1
|
0
|
6
|
|
Have
moved to a single storey property
|
5
|
2
|
5
|
5
|
7
|
24
|
|
Live
on one floor within their property
|
1
|
2
|
0
|
1
|
1
|
5
|
There were 31 respondents who indicated that they had made no modifications to
their properties. These fell into two general groups;
- those that had not
made modifications yet, and
- those who didn’t
need to make modifications because they had moved into an accessible
property which meets their needs.
There
were 22 different types of modifications which were mentioned in free-text
answers by more than five respondents, as shown in the following table.
Table 51 –Modifications
by more than 5 people
|
Modification
|
Mobility
0-1
|
Mobility
2-3
|
Mobility
4-5
|
Mobility
6-7
|
Mobility
8-9
|
Total
Answers
|
|
Total
number of respondents
|
20
|
18
|
24
|
21
|
16
|
99
|
|
Grab
rails (all data, in any location)
|
3
|
7
|
8
|
13
|
8
|
39
|
|
Ramps
(external or internal)
|
1
|
2
|
5
|
4
|
5
|
17
|
|
Grab
rails (within the shower or bath)
|
2
|
5
|
3
|
3
|
1
|
14
|
|
Accessible/raised
toilet
|
2
|
2
|
2
|
2
|
4
|
12
|
|
Stair
lift
|
0
|
3
|
0
|
3
|
5
|
11
|
|
Bath seat/shower seat/bath board
|
2
|
1
|
2
|
2
|
4
|
11
|
|
Conversion
of bathroom to wetroom
|
2
|
1
|
0
|
3
|
4
|
10
|
|
Hospital/power/electric/adjustable
bed
|
0
|
0
|
1
|
2
|
4
|
7
|
|
Widening
of doorways
|
0
|
0
|
0
|
4
|
1
|
5
|
|
Making
the level of the bed lower
|
2
|
0
|
1
|
2
|
1
|
6
|
|
Modifications
to the kitchen
|
1
|
0
|
1
|
3
|
1
|
6
|
Grab Rails
Grab
rails are the most common modifications that are made around homes, and are
present in some homes at all levels of mobility. These tend to be the
modifications which are made first. The majority of grab rails are installed in
bathrooms/toilets although respondents also included them by doors, in
bedrooms, kitchens, hallways, garages and other rooms.
Ramps
Ramps
are also a common modification, again made by people at all levels of mobility.
There are two general types of ramps mentioned, the larger scale purpose built
external ramp used for access to the property, and smaller portable ramps which
may be for use either outside or inside the property.
Raised/Accessible Toilets
This
modification includes toilets that were described either as raised or
accessible and has been made across the full range of mobility. Generally this
was described as making it easier to stand up/sit down from the toilet and was
installed because people were finding it difficult to do so.
Stair lift
The
stair lift tends to have been installed by respondents who rely more frequently
on mobility aids, although a few respondents have had one installed earlier.
Stair lifts are reported as giving access to otherwise inaccessible parts of
the property or, installed because it makes access easier to parts of the
property by people who have difficulties getting up or down stairs.
Conversion of bathroom to wetroom, or
conversion of bath to shower.
The
wetroom modification has been made by a number of respondents across the range
of mobility. he
main reason for making this modification is enabling the respondent to shower
because getting in/out of the bath has become difficult or impossible.
16) Walking (2017),
Trips and Falls (2021)
Perhaps
the most common symptom of HSP is impairment of walking. There are plenty of
studies which evaluate walking speed and distance, evaluate gait patterns and
muscle problems. The majority of the papers I have seen evaluate walking in a
clinical environment. In 2017 respondents selected from pick-lists how much and
how often different factors affected them.
Walking Factor Assessment (2017)
For
each factor respondents scored how much and how often it affects them. The
table below shows the percentage affected by each factor split by maximum
walking distance. The “answers” column indicates the total number of people who
scored the factor. The highest percentages in each column are highlighted
Table 52 – Factors
Affecting Walking
|
Factor
Group
|
Factor
|
Answers
|
As far as I want to
|
Exhausted beyond 500m
|
Up to 500m
|
Up to 10m
|
|
Surface
|
Down slopes
|
157
|
71%
|
98%
|
100%
|
100%
|
|
Surface
|
Up Slopes
|
155
|
75%
|
97%
|
90%
|
100%
|
|
Surface
|
Round tight bends/corners
|
154
|
59%
|
84%
|
82%
|
97%
|
|
Surface
|
Over smooth ground
|
153
|
56%
|
81%
|
68%
|
88%
|
|
Surface
|
Over uneven ground
|
152
|
89%
|
97%
|
100%
|
94%
|
|
Surface
|
Where steps/stairs are involved
|
154
|
81%
|
98%
|
100%
|
100%
|
|
Activity
|
Talking/chatting
|
153
|
65%
|
62%
|
61%
|
82%
|
|
Activity
|
Carrying something
|
153
|
89%
|
97%
|
96%
|
94%
|
|
Activity
|
Using the phone
|
151
|
63%
|
58%
|
48%
|
73%
|
|
Activity
|
Concentrating
|
149
|
42%
|
76%
|
67%
|
81%
|
|
Activity
|
Managing children!
|
141
|
52%
|
86%
|
73%
|
72%
|
|
Factor
|
Being in a rush
|
149
|
92%
|
95%
|
100%
|
91%
|
|
Factor
|
Need to go to the toilet
|
154
|
79%
|
92%
|
89%
|
100%
|
|
Factor
|
Stressed
|
148
|
70%
|
92%
|
96%
|
91%
|
|
Factor
|
Upset/emotional
|
148
|
65%
|
92%
|
88%
|
88%
|
|
Factor
|
Tired/fatigued
|
151
|
89%
|
98%
|
100%
|
97%
|
|
Factor
|
Extra short term illness
|
137
|
58%
|
79%
|
72%
|
79%
|
|
Factor
|
Have had alcohol
|
136
|
78%
|
71%
|
84%
|
69%
|
|
Factor
|
Have had caffeine
|
136
|
29%
|
36%
|
52%
|
45%
|
|
Environment
|
It is a hot day
|
145
|
50%
|
71%
|
74%
|
79%
|
|
Environment
|
It is a cold day
|
151
|
77%
|
92%
|
96%
|
86%
|
When
the “how much” and “how often” aspects of the question are combined, the
analysis shows a similar result. Taking a broad view, the factors which affect
people walking the most seem to be:
- Where stairs/steps are involved
- Tiredness/fatigue
- Going over uneven ground
- Carrying somethin
Combinations of Walking Factors (2017)
The
analysis also looked at walking factors in combination. The data shows that if
people are affected by fatigue or tiredness, or they are in a rush, then
walking is often more difficult. These factors are mentioned in combination
with the widest number of factors.
Trips and Falls (2021)
Respondents
in 2021 were asked about their frequency of trips and falls. At least 520 people answered these questions.
Over 90% of people with HSP have problems with balance, tripping up and
falling, and that 80% of people with HSP scuff their feet. There are some
trends:
- Over
a quarter of those who scuff their feet tend to do this on a daily basis, with
around another quarter doing so on a weekly or monthly basis.
- Almost
a third of people who lose their balance with HSP do so on a weekly basis, with
around a quarter doing so on a daily basis.
- Around
half of people who trip up as a result of their HSP do so on a weekly or
monthly basis, with one in five doing so on a daily basis.
- Around
a third of people have stopped themselves falling a few times, with around half
of people needing to do this on a monthly or weekly basis.
- Over
half of people have fallen down a few times, with around one in five people
falling on a monthly basis. A small proportion fall down on a daily basis.
Those
who fall down on a weekly basis have the lowest wellbeing, and this is a
significant effect. All other wellbeing scores are within 3 points of the
average.
17) Exercise and
Relaxation (2019 and 2014)
The
2014 and 2019 surveys looked at exercise and relaxation routines. Overall 362
respondents answered this question in 2019, and 90 answered in 2014. The analysis
reports the 2019 results, and these are very similar to the 2014 results.
The
2019 question set out 18 different activities, and people selected an answer
from a picklist describing how often they do this. In the table “Dont” means
the person selected “I don’t do this”, and “Multi-Per-Day” means the person
selected “I do this several times a day”. Respondents who undertake activities
weekly or more frequently are grouped together as undertaking that activity
“regularly” in the last column, showing the percentage of respondents for that
activity. The table reports activities undertaken regularly by more than 10% of
people
Table 55 – Exercise
and Relaxation
|
|
Multi-Per-Day
|
Daily
|
Weekly
|
Monthly
|
Occasionally
|
Dont
|
Total
|
Regular
|
|
Stretches
|
45
|
138
|
74
|
2
|
47
|
31
|
337
|
76%
|
|
Walking/Running
|
42
|
101
|
44
|
1
|
28
|
85
|
301
|
62%
|
|
Physiotherapy
|
7
|
25
|
119
|
14
|
48
|
93
|
306
|
49%
|
|
Music
|
44
|
46
|
28
|
12
|
34
|
103
|
267
|
44%
|
|
Cycling/Manual wheelchair
|
12
|
37
|
42
|
7
|
35
|
146
|
279
|
33%
|
|
Weights
|
4
|
22
|
39
|
6
|
31
|
167
|
269
|
24%
|
|
Other
|
12
|
8
|
18
|
7
|
14
|
105
|
164
|
23%
|
|
Swimming
|
5
|
9
|
45
|
7
|
65
|
152
|
283
|
21%
|
|
Cardiovascular gym machines
|
2
|
21
|
30
|
2
|
20
|
187
|
262
|
20%
|
|
Yoga/Pilates/Tai Chi
|
3
|
13
|
39
|
4
|
21
|
192
|
272
|
20%
|
|
Gardening
|
3
|
14
|
34
|
13
|
40
|
159
|
263
|
19%
|
|
Massage
|
6
|
8
|
29
|
16
|
42
|
170
|
271
|
16%
|
|
Sauna/Hot bath/Steam room
|
5
|
6
|
21
|
6
|
36
|
187
|
261
|
12%
|
This
shows that stretches are the most common form of exercise being undertaken with
over 90% of respondents doing this, and over 75% doing this regularly. Other
activities which are commonly undertaken include walking/running,
physiotherapy, music and cycling/manual wheelchair with more than one third
doing regularly.
Most Important Activities (2019)
Respondents
were asked to identify those activities which they felt were most important for
exercise, relaxing and flexibility. The top three activities important for
exercise are: stretches, walking and aerobic activities (e.g. gym machines,
workouts). The top three for relaxing are: music, stretches and massage. The
top three for flexibility are: stretches, physiotherapy and Pilates.
18) Menstrual Health
(2022)
The
2022 questions explored if there were issues with menstrual health alongside
HSP. Respondents were asked if commonly occurring HSP symptoms (spasticity,
pain, fatigue and mental health) changed during their menstrual cycle. There
were between 180 and 185 people who answered these questions. The following
table highlights the proportion of people who feel each symptom changes during
their menstrual cycle.
Table 57 – Menstrual
health summary
|
HSP
Symptom
|
Proportion worse or much worse
|
Proportion about the same
|
Proportion better or much better
|
|
Spasticity
|
30%
|
70%
|
2%
|
|
Pain
|
36%
|
63%
|
1%
|
|
Fatigue
|
54%
|
45%
|
1%
|
|
Mental health
|
32%
|
64%
|
4%
|
For
fatigue, the majority feel this gets worse or much worse, whereas for the other
symptoms the majority feel that this does not change. There is little
difference in the results across location and use of mobility aids. Those who
feel their spasticity and fatigue symptoms get worse have a lower wellbeing,
and there may be a significant reduction in wellbeing for those who feel their
mental health gets much worse during their menstrual cycle. Several people find
that their bladder and/or bowel are more affected during their cycle.
Menstrual hygiene products
Respondents
were asked if their HSP restricted the types of menstrual hygiene products they
would like to use. Most people said no, their HSP did not restrict the type of
product they could use. Several respondents noted that their HSP diagnosis had
occurred after their menopause, so they did not need to consider this.
Some
15 respondents indicated that they could not use tampons for a variety of
reasons, or they preferred to use pads. Some said that it was difficult or
uncomfortable to use tampons, others noted they could not use tampons because
of spasms or increased spasticity. One noted that they prefer pads, which they
have to use because of their bladder issues.
19) Sleep (2018)
The
2018 survey sought to explore how HSP affects peoples’ sleeping patterns. Respondents
answered questions from the Global Sleep Assessment Questionnaire (GSAQ) and
questions capturing factors relevant to HSP. The questions identified 16
factors with the potential to affect sleep. Respondents selected an answer from
a picklist best reflecting their situation. Where a factor affects a person ‘usually’
or ‘always’, it is taken that this affects their sleep quality. 290 respondents
answered at least 14 of the questions, and are included in this analysis.
The
majority of respondents (80%) are affected by at least one sleep factor.
Approximately half of respondents (54%) are affected by 3 or more factors.
Grouping the numbers of factors together in similar sized groups allows an
analysis of wellbeing:
Table 58 – Number
of sleep factors
|
Number of sleep factors
|
Respondents
|
Wellbeing
|
|
0
or 1
|
92 (35%)
|
+4.5
|
|
2
or 3
|
73 (25%)
|
+2.2
|
|
4
or 5
|
47 (16%)
|
-2.7
|
|
6
or more
|
67 (23%)
|
-6.0
|
Those
respondents affected by at least 6 factors (approximately one quarter of
respondents) are shown to have a significantly lower wellbeing. Those who are
affected by no factors or one factor, about a third, have a better wellbeing.
The
data allows the sleep factors with the biggest effects to be identified. The
table shows factors affecting more than 20% of people, sorted by the proportion
of people affected
Table 59 – Sleep
Factor With Greatest Effect
|
Sleep Factor
|
Respondents
|
|
Did
you have difficulty falling asleep, staying asleep, or feeling poorly rested
in the morning?
|
48%
|
|
Did needing
the toilet disturb you in your sleep?
|
38%
|
|
Did
you have repeated rhythmic leg jerks or leg twitches during your sleep?
|
32%
|
|
Did
you have restless or "crawling" feelings in your legs at night that
went away if you moved your legs?
|
27%
|
|
Did
you feel sad or anxious?
|
26%
|
|
Did pain
disturb you in your sleep?
|
25%
|
|
Did
sleep difficulties or daytime sleepiness interfere with your daily
activities?
|
25%
|
|
Did
you fall asleep unintentionally or have to fight to stay awake during the
day?
|
23%
|
The
factor with the greatest effect, affecting nearly half of respondents is having
difficulty falling asleep, staying asleep or feeling poorly rested in the
morning. Needing the toilet in the night affects more than a third of respondents
and having repeated rhythmic jerks or twitches affects about a third of
respondents.
20) HSP Research (2020 and 2021)
Research Priorities (2021)
Respondents
in 2021 were asked where they felt research into HSP should be prioritised, and
316 respondents provided an answer. These answers have been grouped into
categories, and those mentioned by at least 10 people are shown
Table 60 – Research
priorities
|
Priority
|
People
|
|
Treatments
|
96
|
|
Cure
|
41
|
|
Spasticity
|
40
|
|
Genetics
|
28
|
|
Cure and/or treatment
|
23
|
|
Symptoms
|
18
|
|
Pain
|
17
|
|
Improved understanding
|
14
|
|
Gene therapy
|
13
|
|
More information
|
10
|
Many
of those seeking research into treatments talked about slowing the progression
of HSP down, or stopping the progression. Others sought more/better
medications, or combatting symptoms. Some people who identified cure as their
priority were angry or frustrated at the research currently undertaken. They
have been told that research is “close” to finding a cure, but they are annoyed
that the “close” isn’t likely to be soon enough help them. Those identifying
spasticity identify a range of areas, including reducing camps, spasms and
muscle stiffness, with others wanting to be able to walk better/again or
generally improving their mobility.
What would a cure for HSP look like? (2020)
In
2020 people were asked what they thought a cure for HSP would look like by
selecting an option. There were 312 respondents who answered this question, as
shown in the following grid:
Table 61 – 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.
21) Life with HSP 2019 to
2022
Advice to others (2022)
Respondents
were asked “If you were giving advice to someone else with HSP, what is the
most important thing you would say?” 407 people provided an answer to this
question. These answers have been grouped into categories. Some respondents
answered with a couple of words, whereas others answered with sentences. This
table shows advice offered by at least five people.
Table 62 – Advice
to others
|
Advice
|
People
|
|
Stay positive
|
101
|
|
Keep moving
|
100
|
|
Be kind to yourself
|
37
|
|
Find others
|
26
|
|
Focus on what you can do
|
23
|
|
Start treatments
|
22
|
|
Inform yourself about HSP
|
22
|
|
Accept that you have HSP
|
18
|
|
Regular stretching
|
18
|
|
Find expert advice from
healthcare professionals
|
16
|
|
Seek help when you need
to
|
13
|
|
Physiotherapy
|
13
|
|
Go at your own pace
|
10
|
|
Don’t be scared of using mobility
aids
|
9
|
The
two pieces of advice offered the most are around staying positive and keeping
moving, covering around half of the answers given. Generally, staying positive
comments were either around keeping a positive attitude and enjoying life, or
around not letting life get you down and not giving up. Comments around keeping
moving were around doing exercise, stretching, remaining active, walking (where
possible), physiotherapy and not sitting still.
Being
kind to yourself comments are mostly around taking each day as it comes, not
worrying about what other people think, listening to your body and having a
good quality of life. Focussing on what you can do comments are around
maintaining independence, not worrying about things you can no longer do,
enjoying what you can do, and living your life in the current moment.
Questions about life with HSP (2019 and
2020)
Several
questions were used to investigate different HSP aspects, allowing people to
give yes or no answers.
Table 63 – Life
with HSP questions in 2019
|
Question
|
Yes
|
No
|
Wellbeing Yes
|
Wellbeing No
|
|
Do you consider yourself to be lonely?
|
116 (32%)
|
245
|
-7.9
|
+3.9
|
|
Do you consider yourself to be isolated?
|
107 (30%)
|
255
|
-8.4
|
+3.5
|
|
Do you consider yourself to be
vulnerable?
|
195 (54%)
|
166
|
-2.9
|
+3.2
|
|
Have you suffered from abuse?
|
52 (14%)
|
307
|
-4.4
|
+0.8
|
One
third of people with HSP consider themselves to be lonely and/or isolated. These
tend to occur more often in those whose mobility is more restricted. There is a
significant difference in wellbeing between those who are affected and those
who are not.
Around
half of people with HSP consider themselves to be vulnerable. Vulnerability
tends to be similar across mobility bands and in different parts of the world. People
identified that they feel vulnerable for two main groups of reasons, one group
is around the physical changes of HSP not allowing people to be able to defend
themselves or resist attack, the other group is around the consequences of HSP
symptoms, including balance problems, incontinence and speed/ease of movement
in crowded situations.
Around
one in seven people with HSP have suffered from abuse. Those with restricted
mobility have suffered abuse more than those who are more mobile. Approximately
three quarters of those who suffered from abuse indicated that this was as a
result of their HSP, and these come from across the range of mobility scores.
Table 64 – Life
with HSP questions in 2020
|
HSP
Description on diagnosis?
|
Yes
|
No
|
Wellbeing Yes
|
Wellbeing No
|
|
Did you get a description of HSP when
diagnosed?
|
180 (59%)
|
124
|
+1.1
|
-1.4
|
|
Delayed/avoided seeking advice due to embarrassment?
|
48 (15%)
|
265
|
-7.3
|
+1.3
|
|
Extent or severity of symptoms not
believed by medical professional?
|
173 (55%)
|
142
|
-1.9
|
+2.4
|
|
Inadequate/inappropriate treatment because
a medical professional did not take you?
|
174 (56%)
|
139
|
-2.4
|
+3.1
|
Over
half of respondents got a description on diagnosis, and those who did have a
slightly better wellbeing. The proportion getting the description is similar
across mobility aid usage and country.
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 significantly
lower wellbeing.
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.
More
than half of people with HSP feel that they have not received adequate or
appropriate treatment because they have not been taken seriously by a medical
professional. Those who feel this have a lower wellbeing than those who have
been taken seriously.
Friendships (2021)
Respondents
in 2021 were asked “Describe if you have found making or keeping friends
difficult because of your HSP?” 408 people provided a free-text answer to this
question. These answers have been grouped and categorised into yes or no
answers. There are similar numbers of people who have difficulties making or
keeping friends as a result of their HSP. Those that have these difficulties
have a lower wellbeing than those who do not.
Comfortable discussing HSP issues with
partner/family (2021)
There
are 559 respondents who answered (in 2021): Do you feel comfortable discussing
issues relating to your HSP with your partner/family? Results are shown in the
following table
Table 67 – Do
you feel comfortable discussing issues relating to your HSP with your
partner/family?
|
Comfortable
discussing HSP issues with partner/family?
|
Respondents
|
Wellbeing
|
|
All
|
559
|
-
|
|
Yes, always
|
354 (63%)
|
+2.7
|
|
No, never
|
41 (7%)
|
-5.8
|
|
Sometimes
|
164 (29%)
|
-4.4
|
Around
two thirds of people with HSP are comfortable discussing HSP issues with their
partner or family. Less than 10% are not comfortable, with the remainder
comfortable discussing some of the time. Those who are comfortable discussing
have a higher wellbeing, and those who are not comfortable discussing have a
significantly lower wellbeing
Comfortable discussing your HSP in a new
romantic relationship (2021)
There
are 518 respondents who answered (in 2021): In a new romantic relationship, how
comfortable would you feel discussing your HSP and its impact? Responses are
shown in the following table.
Table 68 – Comfortable
discussing your HSP and its impact in a new romantic relationship?
|
Comfortable
discussing your HSP in new romantic relationship?
|
Respondents
|
Wellbeing
|
|
All
|
518
|
-
|
|
Uncomfortable, but I would discuss it
|
257 (50%)
|
-2.4
|
|
I would not discuss it
|
37 (7%)
|
-9.0
|
|
Comfortable, it’s not a problem
|
224 (43%)
|
+4.3
|
Around
two in five with HSP would be comfortable discussing HSP issues in a new
romantic relationship. Less than 10% are not comfortable and would not discuss.
About half would discuss this, but would feel uncomfortable. Those who are
comfortable discussing have a higher wellbeing, and those who are not
comfortable discussing have a significantly lower wellbeing.
22) Needs (2020)
Questions were asked in 2020 to identify the needs
of people with HSP, split into five topics. For each topic people selected
their top 5 needs from a picklist for that topic. Picklists were derived from
observing people’s stories and concerns over time, and the experiences of
people with HSP from different areas.
For each topic below, 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 tables report any needs
identified as 1st choice by at least 10 people.
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. Similar scoring needs are grouped using light shading. The
full report for this survey also includes a breakdown of needs identified by
the people in each country.
Living with HSP
This topic included 20 needs.
Table 69 – 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%
|
Diagnosis and Inheritance
This topic included
11 needs:
Table 70 – 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%
|
|
Fewer clinical misdiagnoses
|
14
|
87
|
267
|
29%
|
Wellbeing
This topic included 12 needs.
Table 71 – 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%
|
Treatments
This topic included 19 needs:
Table 72 – 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%
|
Information about HSP
This topic included 9 needs:
Table 73 – 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%
|
24) Wellbeing
Conclusions
Since
2017 the effects of different factors of HSP have been highlighted in terms of
wellbeing. Those effects with wellbeing higher or lower than the average for
each year have been highlighted. The tables below draw together the factors reported
since 2017 which have the strongest associations with people’s wellbeing,
either positive or negative.
The
tables show the year each effect was reported in, a description of the factor,
the proportion of people who are affected by the factor, irrespective of if
they gave a wellbeing score, and the difference from the average wellbeing of
that year. The factors shown are all those affecting at least 20% of people in
that year. Positive wellbeing effects are shown where the wellbeing is at least
3.5 points better than average, and negative effects are shown where the
average is at least 5 points below average.
Positive Wellbeing Effect
Table 77 –
Positive Wellbeing Factors
|
Year
|
Factor
|
Proportion
|
Wellbeing
|
|
2021
|
No depression (PHQ score 0-1)
|
42.8%
|
7.3
|
|
2018
|
Not suffering from depression
|
26.0%
|
6.8
|
|
2021
|
HSP not affecting future relationships
|
32.2%
|
5.5
|
|
2022
|
No depression (PHQ score 0-1)
|
47.2%
|
5.5
|
|
2018
|
Not suffering from poor-coordination
|
20.4%
|
4.6
|
|
2018
|
Good sleep (affected by up to 1 sleep factor)
|
32.9%
|
4.5
|
|
2021
|
My family understands my HSP - strongly agree
|
30.6%
|
4.4
|
|
2021
|
Comfortable discussing my HSP in a new relationship
|
39.6%
|
4.3
|
|
2021
|
Family thinks I exaggerate my HSP - strongly disagree
|
24.1%
|
3.9
|
|
2019
|
Not feeling lonely
|
66.8%
|
3.9
|
|
2021
|
No difficulty making friends
|
34.3%
|
3.7
|
|
2017
|
No depression (PHQ score 0-2)
|
22.1%
|
3.5
|
|
2018
|
Not having difficulty falling/staying asleep
|
49.3%
|
3.5
|
|
2019
|
Not feeling isolated
|
69.5%
|
3.5
|
Negative Wellbeing Effect
Table 78 – Negative
Wellbeing Factors
|
Year
|
Factor
|
Proportion
|
Wellbeing
|
|
2021
|
Screen for depression (PHQ score 3-6)
|
24.4%
|
-10.0
|
|
2022
|
Screen for depression (PHQ score 2-6)
|
48.5%
|
-9.4
|
|
2017
|
Screen for depression (PHQ score 3-6)
|
59.0%
|
-9.0
|
|
2018
|
Being sad/anxious interfering with sleep always/usually
|
24.3%
|
-8.6
|
|
2019
|
Feeling isolated
|
29.2%
|
-8.4
|
|
2019
|
Feeling lonely
|
31.6%
|
-7.9
|
|
2021
|
Low acceptance (AIS score <20)
|
35.8%
|
-7.6
|
|
2018
|
Suffering from stress all or most of the time
|
22.4%
|
-6.9
|
|
2018
|
Worries affecting sleep always/usually
|
20.7%
|
-6.1
|
|
2018
|
Poor sleep (Having 6+ sleep factors always/usually, sleep)
|
23.0%
|
-6.0
|
|
2020
|
Medical professionals not understanding your HSP at all
|
20.8%
|
-5.8
|
|
2021
|
HSP affected past relationships negatively
|
21.6%
|
-5.7
|
|
2021
|
HSP may affect future relationships negatively
|
29.0%
|
-5.5
|
|
2017
|
Not content with employment/occupation situation
|
31.1%
|
-5.5
|
The
HSP symptoms with greatest potential impact on wellbeing are pain, bladder,
co-ordination and learning/memory. These each affect more than 20% of people. As
these factors can change over time there may be decreases in wellbeing over
time. People can review their situation with their neurologist, physiotherapist
or doctor to ensure their exercise routines, medications, treatments and
mobility aids are appropriate for their stage of HSP, and be confident that
they are managing their changes over time as well as they can.
Within
the HSP sphere other areas affecting at least 20% of people, where changes
could be investigated include:
- Reviewing
factors affecting depression
- Reviewing
factors affecting sleep
- Reviewing
factors affecting stress
- Frequency
of seeing specialists, and getting appropriate treatments
Those
who have low acceptance of their HSP have significantly lower wellbeing and
those with good acceptance have significantly higher wellbeing. Similarly those
who understand HSP well have a higher wellbeing than those with a limited
knowledge of HSP. People could consider counselling for changing their
acceptance, and could pro-actively seek to understand more about HSP.
The Importance of Wellbeing
he
area with the greatest number of positive and negative effects is the
social/family/relationships area. There are two key aspects covering the
greatest wellbeing changes within relationships:
- Many
questions are around people feeling that their family or partners do not
understand their experiences with HSP, sometimes making assumptions about HSP
which don’t reflect peoples’ own perceptions.
- Secondly,
people are sometimes not comfortable discussing their situations with important
people.
Overall,
there are factors to do with feelings, relationships, comments and opinions.
Conversations around these topics can be difficult, and people could consider
discussing these issue with people they care about to help their burden (provided
they feel safe to do so). These conversations can help everyone improve their
understanding, recognise that situations change, and allow honesty about
concerns, difficulties and feelings. For some, those conversations may feel
more appropriate with a counsellor or trusted friend.
The
other aspect affecting at least 20% of people is: people who are not context
with their employment situation have a lower than average wellbeing. People
could either review transferrable skills to explore new/alternative jobs, or
engage more with their employer about the day-to-day reality of their situation.
26) Acknowledgements
Most
importantly I thank the 1,740 respondents in many countries who took time to
respond to my surveys since 2013, some once or twice and others many times. Without
these excellent answers my analyses and these reports would not have been
possible. I appreciate everyone sharing their details to allow me to report on
these important factors.
Thanks
are also given to HSP support groups (who I thank for letting their members know
about my surveys) and HSP groups on Facebook (whose admins I thank for letting
me post about these). Finally, I also thank those individuals in the HSP world
who have reviewed and assisted with the translations of the survey questions
into different languages, and other individuals who have given feedback and comments
on early drafts of these reports over the years.
