Rare Disease Day

This is the first post on Rare Disease Day in a long time when I have not had a set of survey results to publish. I'll use this as an opportunity to get back to basics around this day.

Rare Disease Day 2025 – Raising awareness for people living with rare diseases and their families worldwide.

A rare disease is one which affects fewer than 1 in 2000 people, i.e. less than 0.05% of the population. All together there are over 7000 rare diseases, which reveals that 1 in 17 people are likely to be affected by rare disease at some point in their lives.

If your disability or health condition results from a rare disease, your journey through the healthcare system can much more challenging than with an 'everyday' disease. It can take many years to get a diagnosis. You keep having to explain your situation to successive healthcare professionals (who have 'never' heard of your condition before@). When both the affected person and healthcare professional have limited knowledge, the forward path can vary from indistinct to non-existent. The rarity of many of these conditions means that when treatment options are available, they can be limited or re-purposed from other conditions. Support can be hard to find. Advocating for yourself can be hard work.

There is a UK Rare Diseases framework which aims to resolve some of the issues faced by people around diagnosis and care. Several charities provide broad support for different types of rare disease. Work in Europe leads towards resources which can be used by people with rare conditions to help them have conversations with healthcare professionals. I add the link for the one for Hereditary Spastic Paraplegia.

UK Rare Diseases Framework - GOV.UK

Rare Disease UK - Genetic Alliance

Patient Journey Hereditary Spastic Paraplegias (HSPs) – ERN-RND | European Reference Network on Rare Neurological Diseases

 

  

2024 Blog Data and Health Review

This is now my third post with an update of the blog and my heath data. Things have taken a little longer than last year, but I am there now. 

In terms of the blog update, I've updated the four pages as follows:

• Index - easy!
• Survey summary (my on-line research page) - this is still to do....

Blog statistics

This data has been updated, but I havent really paid much attention to it this year. The more popular posts follow the general pattern. It feels like I've had less energy for blogging in 2024 than previously, and my posts are generally up in the last days of the month. There were more symptoms updates and general posts, and less meetings and research posts. This reflects my general activities. 

• In 2024 I didnt run a survey. I reviewed the findings of the 10 surveys that I had previously done. There are issues with my e-mail service not permitting me to send e-mails with the number of contacts that I have, and I havent worked a solution out for this for any future surveys. This has likely generated less traffic to the blog. 
• I am posting less about posts on X an FaceBook. 
• The comments made about my mental health last year about 2023 also hold true for 2024, with possible influence on my writing style.

Health data (Symptoms timeline page)

The health data for 2024 shows a few interesting patterns:

• My weight is slightly down on 2023
• My alcohol level is similar to 2023
• My sleep duration is similar to 2023 
• The number of active minutes is similar to 2023
• My total number of steps is similar to 2023

I think this means that I'm now in my new normal. 2024 is generally similar to 2023, which was different from 2022 and earlier years. I have similar aspirations for 2025 - seeking to get my weight down and improve my cardiovascular health. In summary I need to keep up the exercise and pay more attention to what I'm eating and drinking.

There has been a big change on the mobility aids in 2024, I started using walking poles. My Physio changed my stretches from passive to active stretches. I will be keeping an eye out to see if this affects my shoe wear. My Neurologist was clear that I am starting to lose strength in some muscles, and I think this might be starting to show up in balance as well.

Back to Pilates, as I said last year, I'm having to improvise a few adaptions during classes for some movements. I am now more comfortable having a chair/wall/table near where I'm doing my Pilates to allow me to keep my balance more. The light touch on something else with my hand means I can focus on the movement that we're working on, and not also having to focus on my muscle weakness and balance.

Last year I said about considering myself as a disabled person. In my mind the poles and the blue badge make things much more apparent to onlookers, but I realise that I've had a distinctive gait for a few years. 

Clinic Visit

Today I went to the National Hospital in London for my annual check-up.

My previous check-up was in 2023, but my original appointment in late 2024 had to be re-scheduled till early 2025. This was my first in person appointment since Covid. It was good to back in person, even if the location of the check-in had changed within the hospital!

I saw a new member of the team, so the first part of the consultation was a review of where I am, my family history and that kind of thing. Whilst this is information which I'm frequently having to say each time I meet a new healthcare professional, it is good to reflect on it with a new perspective. The observation this time is around talking about this to my kids, noting that even if they do have HSP they've another decade or two before anything happens. I think this is a conversation I need to have with them in  the relatively near future though.

We concluded that there was nothing unusual about my symptoms, and everything appears to be in order. We reviewed my medication, and there are no changes to be made at the moment. On the mobility front, I'm being recommended to get some some strength and balance exercises, and to generally try and keep myself healthy. I have reasonable strength in my muscles, although there are some which are beginning to get a bit weaker. For example my hamstrings are strong, but my quadriceps are a bit weak. The strength and balance exercises are likely to come from a neurophysiotherapist.

On the bladder front I noted that I'm finding the need to go to the loo more often, and we're going to try and get a local (to me) appointment with a neurourology clinic to find out more about what is going on. There is a balance to be struck with the medication, as I noted that since starting to take the bladder medication my bowel issues had become substantially smaller.

Other key points to note are to focus on my ankle muscles, and to cut down my alcohol. She notes that alcohol can reduce the intake of vitamin B1, which can help keep the nervous system healthy. This is an interesting idea, and I have checked that my current multi-vitamin includes vitamin B1. This led to another interesting point, in that too much vitamin B6 can cause neuropathy. This indicates that there is a bit of an overlap between HSP's effects on the nerves and effects from other issues. My multi-vitamin also contains B6.

I had seen some pages a few years ago about dietary supplements, with some people with HSP claiming some benefits from these. I might have to investigate more this one day......  

Symptoms update - review of walking poles

I have now been using my poles for a few months, so its time to reflect on the changes. 

From a practicality point of view, I think that the wear on my shoes is less, so that indicates that my walking posture is better. Of course, in the same timeframe I've also changed my stretching routine, so that may be another factor in walking. I think that my walking style is better irrespective of the rate of shoe wear. 

I feel that I've a bit more headspace to think about my posture and the way that I'm lifting and moving my legs whilst I am walking. I dont think I was able to do that before, so the poles are making a difference. I perceive the difference to be mostly down to balance, where I have a few more milliseconds to think instead of feeling I have to get my feet on the ground as quickly as possible. 

From a broader perspective, my slower pace is more visible to others, and I'm finding that people are giving me more space and time to be able to do things. I accept that this change makes it more obvious that I have a disability, and appearing on the other side of the Yes/No binary answer to the "are you disabled?" question, which is something I'm having to come to terms with. 

There are a few other things that are different with using poles. As I have one in each hand, I've had to change the types of bag that I use. Whereas I used to carry bags in my hand, I'm now using a rucksack for most things. This is very useful whilst I'm mobile, but there is more hassle getting things in or out of my bag as I have to stop, take the bag off, etc. etc. which is another slower pace of life item. I have bought a little clamp which allows me to use a pole as a selfie-stick, which is neat. My current look-out is for a little holder I can clamp onto a table etc. so I dont have to pay attention to watching if my poles are going to fall to the floor whilst I'm sat down. I'll update with my findings. 

When using stairs, I'm able to hold both poles in one hand, and use the other hand for the hand-rail. This trick is also used when I'm wanting to use one hand for something whilst out and about. For two-handed activities - like taking a photo, I'm using the straps on the poles to give me use of both hands.