2020 Survey Results - Country Specific Needs Analysis

The tables below show the top five needs identified by respondents in each of the seven countries with the highest number of respondents. These tables follow the same scoring process as described in the main post, and the countries are presented in descending order of number of respondents, the same order as the main post: UK, Brasil, USA, France, Netherlands, Canada, Australia. 

UK Respondents Needs Analysis Pack

Diagnosis and inheritance needs	1st Rank	Total Votes	Score	Percent
Explanation of HSP on diagnosis	31	57	232	100%
Signposting about potential future needs	10	47	158	68%
Signposting about HSP information	1	32	86	37%
Fewer clinical misdiagnoses	4	26	77	33%
Information on the likelihood of the next generation having HSP	3	25	76	33%

       

Living with HSP needs	1st Rank	Total Votes	Score	Percent
Stretches and exercises that help	31	41	186	100%
Information on tailoring physical activities to suit HSP	4	24	80	43%
Information on staying healthy with reduced mobility	4	25	73	39%
Information on appropriate physical activities to take part in	5	20	72	39%
Information on living with HSP and other long-term conditions	5	18	66	35%

Treatment needs	1st Rank	Total Votes	Score	Percent
Treatment options for spasticity	29	50	202	100%
Treatment options for bladder issues	4	30	104	51%
Treatment options for pain	9	27	101	50%
Treatment options for fatigue	3	31	85	42%
Better information on existing treatments	4	26	71	35%

Information about HSP needs	1st Rank	Total Votes	Score	Percent
Predicting how HSP will progress in individuals	24	51	209	100%
Understanding the burden of HSP symptoms on people with HSP	16	39	142	68%
Understanding the day-to-day variation in HSP symptoms	1	43	113	54%
Setting up a patient registry for understanding HSP	9	33	102	49%
Understanding the prevalence of HSP symptoms	4	33	101	48%

Wellbeing needs	1st Rank	Total Votes	Score	Percent
Information on improving mental health/wellbeing	25	43	176	100%
Information on finding/accessing relevant healthcare professionals	14	42	167	95%
Information on obtaining benefits	6	38	123	70%
Information on finding HSP patient communities	3	32	87	49%
Information on asking for adjustments at work	4	24	75	43%

The topic Living with HSP was clearly considered to be the most important topic, followed by Treatments and Wellbeing.

Brasil Respondents Needs Analysis Pack

Diagnosis and inheritance needs	1st Rank	Total Votes	Score	Percent
Explanation of HSP on diagnosis	19	37	140	100%
Signposting about HSP information	9	36	124	89%
Signposting about potential future needs	7	42	120	86%
Having genetic tests available for more types of HSP	12	36	114	81%
Understanding what a genetic diagnosis means	5	34	102	73%

Living with HSP needs	1st Rank	Total Votes	Score	Percent
Stretches and exercises that help	26	50	214	100%
Information on appropriate physical activities to take part in	17	48	192	90%
Information on tailoring physical activities to suit HSP	5	25	82	38%
Information on how best to walk	2	30	78	36%
Information on living with HSP and other long-term conditions	5	22	63	29%

Treatment needs	1st Rank	Total Votes	Score	Percent
Treatment options for spasticity	30	45	198	100%
Treatment options for pain	7	35	116	59%
Treatment options for fatigue	3	26	81	41%
Treatment options for bladder issues	6	24	78	39%
Better information on existing treatments	6	24	75	38%

Information about HSP needs	1st Rank	Total Votes	Score	Percent
Predicting how HSP will progress in individuals	13	55	185	100%
Understanding what the affected genes do	25	48	183	99%
Understanding the burden of HSP symptoms on people with HSP	14	42	154	83%
Understanding the prevalence of HSP symptoms	4	32	112	61%
Understanding the day-to-day variation in HSP symptoms	1	36	88	48%

Wellbeing needs	1st Rank	Total Votes	Score	Percent
Information on improving mental health/wellbeing	41	54	245	100%
Information on obtaining benefits	5	39	122	50%
Information on asking for adjustments at work	4	33	115	47%
Understanding your rights	2	37	100	41%
Information on communicating with healthcare professionals	4	33	96	39%

The topic Treatments was clearly considered to be the most important topic, with all other topics scoring similarly, Diagnosis and inheritance and Wellbeing scoring slightly higher than the others.

USA Respondents Needs Analysis Pack

Diagnosis and inheritance needs	1st Rank	Total Votes	Score	Percent
Explanation of HSP on diagnosis	20	41	163	100%
Signposting about potential future needs	2	31	86	53%
Understanding what a genetic diagnosis means	2	29	79	48%
Fewer clinical misdiagnoses	5	21	75	46%
Having genetic tests available for more types of HSP	6	22	67	41%

Living with HSP needs	1st Rank	Total Votes	Score	Percent
Stretches and exercises that help	28	35	162	100%
Information on appropriate physical activities to take part in	2	18	60	37%
Information on how to select mobility aids	2	20	58	36%
Information on tailoring physical activities to suit HSP	4	15	53	33%
Information on types of modifications around the home	2	17	48	30%

Treatment needs	1st Rank	Total Votes	Score	Percent
Treatment options for spasticity	33	42	198	100%
Treatment options for pain	5	27	96	48%
Treatment options for bladder issues	4	27	89	45%
Better information on existing treatments	2	24	72	36%
Treatment options for fatigue	0	20	55	28%

Information about HSP needs	1st Rank	Total Votes	Score	Percent
Predicting how HSP will progress in individuals	13	39	149	100%
Understanding the burden of HSP symptoms on people with HSP	9	30	109	73%
Understanding what the affected genes do	9	30	89	60%
Understanding the prevalence of HSP symptoms	10	22	84	56%
Understanding the day-to-day variation in HSP symptoms	2	29	84	56%

Wellbeing needs	1st Rank	Total Votes	Score	Percent
Information on improving mental health/wellbeing	19	36	150	100%
Information on finding/accessing relevant healthcare professionals	10	34	112	75%
Information on communicating with healthcare professionals	4	25	85	57%
Information on obtaining benefits	4	23	70	47%
Information on finding HSP patient communities	3	21	63	42%

The topic Living with HSP was considered to be the most important topic, followed by Treatments and Wellbeing.

France Respondents Needs Analysis Pack

Diagnosis and inheritance needs	1st Rank	Total Votes	Score	Percent
Explanation of HSP on diagnosis	19	32	128	100%
Signposting about potential future needs	8	28	103	80%
Reduced clinical diagnosis time	3	18	61	48%
Information on the likelihood of the next generation having HSP	3	17	53	41%
Information on the likelihood of others in family having HSP	1	20	51	40%

Living with HSP needs	1st Rank	Total Votes	Score	Percent
Stretches and exercises that help	15	25	108	100%
Information on how best to walk	3	16	53	49%
Information on how to select mobility aids	3	17	51	47%
Information on getting up from falls	4	15	49	45%
Information on appropriate physical activities to take part in	3	10	40	37%

Treatment needs	1st Rank	Total Votes	Score	Percent
Treatment options for spasticity	15	26	111	100%
Better information on existing treatments	5	22	72	65%
Treatment options for fatigue	4	21	67	60%
Treatment options for pain	5	16	62	56%
Treatment options for bladder issues	4	19	60	54%

Information about HSP needs	1st Rank	Total Votes	Score	Percent
Understanding the burden of HSP symptoms on people with HSP	10	28	104	100%
Understanding what the affected genes do	9	21	80	77%
Predicting how HSP will progress in individuals	7	24	80	77%
Understanding the day-to-day variation in HSP symptoms	2	25	62	60%
Predicting if other HSP symptoms will start over time	2	19	59	57%

Wellbeing needs	1st Rank	Total Votes	Score	Percent
Information on improving mental health/wellbeing	9	24	95	100%
Information on obtaining benefits	3	24	71	75%
Information on finding/accessing relevant healthcare professionals	6	20	66	69%
Information on communicating with healthcare professionals	6	16	63	66%
Understanding your rights	2	19	61	64%

The topic Living with HSP was considered to be the most important topic, followed by Treatments. Wellbeing and Diagnosis and inheritance scored similarly after treatments.

Netherlands Respondents Needs Analysis Pack

Diagnosis and inheritance needs	1st Rank	Total Votes	Score	Percent
Signposting about potential future needs	3	14	51	100%
Signposting about HSP information	3	15	49	96%
Explanation of HSP on diagnosis	5	11	39	76%
Reduced clinical diagnosis time	3	9	32	63%
Signposting about HSP communities	1	7	20	39%

Living with HSP needs	1st Rank	Total Votes	Score	Percent
Stretches and exercises that help	7	10	45	100%
Information on staying healthy with reduced mobility	1	10	34	76%
Information on tailoring physical activities to suit HSP	2	9	32	71%
Information on how best to walk	3	8	26	58%
Information on appropriate physical activities to take part in	1	7	24	53%

Treatment needs	1st Rank	Total Votes	Score	Percent
Treatment options for fatigue	7	13	56	100%
Better information on existing treatments	0	11	32	57%
Treatment options for spasticity	4	8	31	55%
Treatment options for other ‘pure’ HSP symptoms	1	7	24	43%
Development of new treatments	3	7	22	39%

Information about HSP needs	1st Rank	Total Votes	Score	Percent
Understanding the burden of HSP symptoms on people with HSP	4	13	50	100%
Predicting how HSP will progress in individuals	5	11	42	84%
Predicting if other HSP symptoms will start over time	1	13	40	80%
Understanding what the affected genes do	5	8	32	64%
Understanding the day-to-day variation in HSP symptoms	2	11	30	60%

Wellbeing needs	1st Rank	Total Votes	Score	Percent
Information on finding/accessing relevant healthcare professionals	7	16	57	100%
Information on improving mental health/wellbeing	7	14	54	95%
Information on communicating with healthcare professionals	2	8	27	47%
Information on asking for adjustments at work	1	5	20	35%
Information on finding HSP patient communities	1	6	18	32%

The topic Living with HSP was clearly considered to be the most important topic, followed by Treatments. The other topics scored relatively few points.

Canada Respondents Needs Analysis Pack

Diagnosis and inheritance needs	1st Rank	Total Votes	Score	Percent
Explanation of HSP on diagnosis	9	12	54	100%
Signposting about potential future needs	1	10	29	54%
Information on the likelihood of others in family having HSP	1	8	26	48%
Having genetic tests available for more types of HSP	3	8	25	46%
Fewer clinical misdiagnoses	1	6	22	41%

Living with HSP needs	1st Rank	Total Votes	Score	Percent
Stretches and exercises that help	4	9	35	100%
Information on living with HSP and other long-term conditions	4	8	30	86%
Information on tailoring physical activities to suit HSP	3	6	26	74%
Information on appropriate physical activities to take part in	1	8	25	71%
Information on how levels of participation may change over time	2	5	20	57%

Treatment needs	1st Rank	Total Votes	Score	Percent
Treatment options for spasticity	9	11	51	100%
Treatment options for pain	1	8	28	55%
Treatment options for fatigue	1	9	27	53%
Treatment options for bladder issues	1	6	20	39%
Better information on existing treatments	1	7	18	35%

Information about HSP needs	1st Rank	Total Votes	Score	Percent
Understanding the burden of HSP symptoms on people with HSP	5	11	42	100%
Predicting how HSP will progress in individuals	3	11	38	90%
Understanding what the affected genes do	4	8	32	76%
Setting up a patient registry for understanding HSP	1	11	26	62%
Understanding the day-to-day variation in HSP symptoms	0	12	26	62%

Wellbeing needs	1st Rank	Total Votes	Score	Percent
Information on improving mental health/wellbeing	6	14	52	100%
Information on finding/accessing relevant healthcare professionals	3	12	42	81%
Information on communicating with healthcare professionals	3	10	40	77%
Information on obtaining benefits	2	6	22	42%
Information on finding HSP patient communities	0	8	21	40%

The topic Living with HSP was clearly considered to be the most important topic, followed by Treatments. The other topics scored similarly.

Australia Respondents Needs Analysis Pack

Diagnosis and inheritance needs	1st Rank	Total Votes	Score	Percent
Explanation of HSP on diagnosis	10	16	65	100%
Information on the likelihood of others in family having HSP	2	8	29	45%
Signposting about potential future needs	0	10	27	42%
Understanding what a genetic diagnosis means	0	10	23	35%
Information on the likelihood of the next generation having HSP	1	8	20	31%

Living with HSP needs	1st Rank	Total Votes	Score	Percent
Stretches and exercises that help	6	14	57	100%
Information on appropriate physical activities to take part in	0	8	26	46%
Information on tailoring physical activities to suit HSP	2	7	21	37%
Understanding if any changes/new symptoms are to do with HSP	2	5	19	33%
Information on living with HSP and other long-term conditions	2	5	17	30%

Treatment needs	1st Rank	Total Votes	Score	Percent
Treatment options for spasticity	6	9	38	100%
Treatment options for fatigue	1	9	31	82%
Better information on existing treatments	3	8	29	76%
Treatment options for pain	1	7	27	71%
Treatment options for bladder issues	3	6	24	63%

Information about HSP needs	1st Rank	Total Votes	Score	Percent
Predicting how HSP will progress in individuals	7	15	62	100%
Understanding the day-to-day variation in HSP symptoms	2	12	33	53%
Understanding the burden of HSP symptoms on people with HSP	3	10	32	52%
Predicting if other HSP symptoms will start over time	0	8	28	45%
Understanding the prevalence of HSP symptoms	1	7	23	37%

Wellbeing needs	1st Rank	Total Votes	Score	Percent
Information on improving mental health/wellbeing	9	14	56	100%
Information on finding/accessing relevant healthcare professionals	1	10	34	61%
Information on communicating with healthcare professionals	2	10	33	59%
Information on finding HSP patient communities	2	11	32	57%
Information on obtaining benefits	0	7	20	36%

The topic Living with HSP was clearly considered to be the most important topic, followed by Treatments. Wellbeing and Diagnosis and inheritance scored similarly after Treatments.

Coronavirus, Complex HSP and Learning Difficulties

The news caught my attention recently with the headline that those with disabilities are much more likely to die from coronavirus than those without. I immediately thought that this didn't sound quite right as last year the consensus was that those with HSP in wheelchairs weren't at increased risk unless they had other factors coming into play.

The headline had abbreviated a key point - it is those with learning difficulties who are much more likely to die, and the headline writers had abbreviated learning difficulties into the more general term disabilities (which is not helpful!).

I know that there are many who have complex HSP who have cognitive impairment (i.e. learning difficulties, or intellectual disability - ID) as one of their HSP symptoms. For those that like specifics, SPG11 and SPG15 are two of the more common types of  HSP where cognitive impairment can be an HSP symptom, but there are many others.

Here in the UK we are in our second phase of coronavirus vaccinations. The first phase sought to vaccinate people over 70, those who live or work in care homes, those who work on the frontline in healthcare, and those who are clinically extremely vulnerable. People who have complex HSP including cognitive impairments or learning difficulties are much more likely to be in this clinically extremely vulnerable group, particularly when their cognitive impairments are advanced, or when other HSP symptoms are advanced. If this applies to you, you are in the UK and you have not received an invitation for vaccination, then get in touch with your GP.

Summary: If your HSP has cognitive impairments as a symptom, and these are advanced - seek vaccination for coronavirus.

In the UK vaccinations are heading into their second phase, targeting those aged between 60 and 70, and those with underlying health conditions. The list of underlying conditions includes those with "a neurological or muscle wasting condition." People with HSP easily fall within this category, although those starting their HSP journeys or with mild symptoms are likely to be at no greater risk than others of the same age. If you are in the UK and your HSP is advanced, then you should expect to get an invitation for vaccination soon. If you are not sure if your HSP is advanced, talk with your GP or neurologist.

Summary: If your HSP is advanced, consider seeking vaccination for coronavirus.

In the UK, the population aged 50-60 comes next, theoretically by April, with the rest of the adult population by the autumn.  

Lastly on this topic, there have been a few questions popping up on social media asking if HSP would be a reason not to get a coronavirus vaccine. I am not aware of any such concerns, and if you are worried I suggest talking this through with your doctor before getting a vaccination. The overwhelming body of evidence is that the vaccines are safe and effective. Side effects tend to be soreness at the injection site or slight fever/tiredness for a couple of day, lasting a day or so. The main message is that the risks from coronavirus greatly outweigh the risks from vaccination.

Summary: Vaccinations are safe

Links:

Increased risks for those with learning difficulties: https://www.gov.uk/government/news/people-with-learning-disabilities-had-higher-death-rate-from-covid-19

The priority groups: https://www.gov.uk/government/publications/covid-19-vaccination-care-home-and-healthcare-settings-posters/covid-19-vaccination-first-phase-priority-groups 

Current timings: https://www.bbc.co.uk/news/health-55045639

Vaccines are safe: https://www.who.int/news-room/q-a-detail/coronavirus-disease-(covid-19)-vaccines-safety

Yes, readers, I note that the headline on increased risks is from November 2020. I remember hearing it on the radio late January or early February, and was surprised to find the original report was from November.

 

Rare Disease Videos on TED

I have been exploring videos about HSP on YouTube for the UK HSP Support Group, principally to be able to add videos made by/about anyone with HSP to their "Those with HSP" playlist. https://www.youtube.com/channel/UCkxTfcI4tKYNMYsgzVumpWA/playlists

I also had a brief look at TED to see if there were any relevant videos as well. I didnt find any with/about HSP, but there are a few interesting ones about rare diseases. These all have parallels with the HSP world - enjoy watching!

Sharon Terry had two young children who were diagnosed with a rare disease known as pseudoxanthoma elasticum (PXE). Sharon explains how she and her husband became citizen scientists, working to find the gene behind PXE and establishing mandates for researchers to share biological samples and work together.

https://www.ted.com/talks/sharon_terry_science_didn_t_understand_my_kids_rare_disease_until_i_decided_to_study_it 

Jennifer Brea became progressively ill with myalgic encephalomyelitis (ME), also known as chronic fatigue syndrome. Jennifer describes the obstacles she's encountered in getting diagnosis and seeking treatment for her condition with root causes and physical effects which are not understood, and her mission to document the lives of patients that medicine struggles to treat.

https://www.ted.com/talks/jennifer_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose 

Georgia Hay tells the story of Lily, who suffers from a chronic rare disease. Georgia talks about her diagnosis journey and the more general diagnosis journey for those with rare diseases, and speculates how work in rare disease diagnosis may map out the future of work for teams and organisations allowing people to work effectively alongside technology.

https://www.ted.com/talks/georgia_hay_what_diagnosing_rare_diseases_can_tell_us_about_the_future_of_work_jan_2018 

Sue Austin talks about the tremendous sense of freedom she got from starting to use a power wheelchair, and the artwork she has made to challenge preconceptions of wheelchair use. She conveys the spirit of wonder she feels wheeling through the world and underwater, and the freedom of thought from seeing something so unusual!

https://www.ted.com/talks/sue_austin_deep_sea_diving_in_a_wheelchair 

You can also read more about Sue here:

https://blog.ted.com/see-much-more-of-sue-austins-incredible-wheelchair-art/

Which physiotherapy helps with HSP

In late 2020 an e-mail popped into my inbox from one of the German HSP groups - Ge(h)n mit HSP (Go with HSP) - this group have funded a study into which types of physiotherapy help those with HSP, and e-mail provided links to the results and various videos.

If you are keen to get straight to the point you can go reading now: https://www.gehn-mit-hsp.de/viewtopic.php?f=40&t=1493 - and if reading German is difficult, there is a translate tool at the bottom of the page. The research has been done by the University of Tübingen, in Germany, and the team includes; Prof. Dr. Ludger Schöls, Dr. Rebecca Schüle, Dr. Matthis Synofzik and Susanne Koch. (UK readers from the support group may remember that Rebecca Schüle came to the 2019 AGM) 

Each of the exercises is shown with instructions and videos on the TreatHSP.net website: https://www.treathsp.net/klinik/physiotherapie/uebungen - again, if you do not read German then you would need translate the page - and you'll need to have configured your browser to do this!

26 different exercises are given, and I give the headlines of each below. The full description tells you which muscles are being worked, and how to vary these. A video is given, and a set of photos to show you what to do. 

My top tip, if listening to German isnt your strong point (and you want to understand what is being said), watch the videos directly in YouTube and turn on closed captions/subtitles. YouTube can show those subtitles in another language. I have watched a couple like this, and it feels like hard work, but a good way of getting the information across - In YouTube the closed captions is one of the options on the bottom of the video. Once theses are turned on, you can use the setting button to change the language to auto-translate, and select the language you wish. 

Exercises:

1) Foot Tap - In this exercise, you put one foot on each box from a standing position and then take it back again. 

2) Box (side) - In this exercise, you step sideways over a box and back again. 

3) Hölzle - In this exercise, you step either forwards or sideways over small pieces of wood lying on the floor. 

4) Kneeling - In this exercise, you move one leg forward from the kneeling position and then come back to the kneeling position. 

5) Step up and down - In this exercise, you use both feet to climb a step and then descend again. 

6) Step down and up - In this exercise, you step down a step with both feet and then up again with both feet. 

7) Stair training - In this exercise, you climb up and down a flight of stairs.

8) Gear variants - In this exercise you train different gaits in order to specifically practice different areas of walking. 

9) Protective steps - In this exercise, you will repeatedly do large lunges in different directions, practicing self-restraint if necessary and preventing a fall. 

10) Knee rockers - Repeatedly bend your knees slightly and bounce back elastically.

11) Toe stand - In this exercise, you will repeatedly stand on tiptoe and then lower yourself back down.

12) Jump - In this exercise you will jump up repeatedly. Here you either jump on the spot, forwards or to the side.

13) Run - In this exercise, you jog in place and then forward.

14) Gait training - The aim here is to practice walking over long distances as daily as possible. 

15) On the ground and up again - In this exercise you go from a lying position to a standing position and back again.

16) Roofs - Repeatedly form a roof with the whole body from the four-legged position.

17) Chair back - Bend over in a chair with your legs straight; so stretch the back of the legs and lower back. 

18) Prone position on the couch - In this exercise, you lean on a couch or table and bend your knees repeatedly.

19) Warrior - With a large forward lunge, you stretch the hip flexors.

20) Straddle stance - In the straddle stance, you alternately shift your weight from right to left.

21) Cobbler pose - In a wide seat with the soles of your feet together.

22) Prone position - In this exercise, you can lie relaxed on your stomach.

23) Forearm support - From the prone position, prop yourself up on your forearms.

24) Hand rest - Support yourself from the prone position on your hands. 

25) Sliders in the supine position - In this exercise, you lie on your back and use a towel to pull one leg towards you and then straighten it.

26) Sliders in the supine position - In this exercise, you lie on your stomach and use a towel to pull one leg as close as possible to your body.

Reflections on these - I think these are a good set of stretches and exercises that can be done, provided that you're sufficiently mobile. There is a reasonable overlap with the muscles that I stretch in my daily stretches, but I might have to explore 15 and 22-24 in my stretches, and 3, 8 and 9 at other times.