Carer reported experiences: Supporting someone with a rare disease

McMullan J, Crowe AL, Downes K, McAneney H, McKnight AJ. 

Carer reported experiences: Supporting someone with a rare disease. 

Health Soc Care Community.  2022;30:1097– 1108. 

https://doi.org/10.1111/hsc.13336

Abstract:

"This exploratory study aimed to gain an understanding of carer reported experiences derived specifically from persons caring for someone with a rare disease. The survey took place online on the SmartSurvey platform from November 2019 to January 2020. The facilitated workshop took place in Bangor Carnegie Library, Northern Ireland. To be eligible to participate in the online survey respondents had to be adults caring for someone with a rare disease. Fifty-seven respondents took part, 15.8% male, 84.2% female. Thirty- two attendees were part of the facilitated workshop. While carers reported several positive aspects of their caring role, the majority of comments highlighted challenges such as sub-optimal interactions with healthcare professionals, insufficient (or absent) emotional, psychological and social support, lack of financial support and lack of awareness of existing support services. It is important that strategies are put in place to ensure that carers are given the time they need to care for themselves, and that awareness is raised of what support options are available for carers of people with a rare disease(s) from health and social care providers, charities or support groups.

What is known about this topic and what this paper adds?

• Caring for someone with a rare disease, both formally and informally, can be an extremely demanding role requiring intense and unique care tailored to each individual's specific needs.
• The impact of caring for someone with a rare disease can be seen in many areas of an individual's life including psychologically, economically, physically and logistically.
• This study provides insight into current challenges, and some requested solutions, based on reported experiences from carers of people with a rare disease in the UK and Ireland.
• The use of an online survey promoted flexibility and accessibility for person's unable to attend the in-person workshop.
• The facilitated workshop enabled carers to network, discussing challenges and potential solutions with their peers."

To conclude my posts for Carers Week I thought I'd share this paper with you. it's one of the most comprehensive reports on carers experiences that I've come across to date. Although first published in May 2021, I only became aware of it a couple of weeks ago. When I read it, I realised that it echoes many of the points that I've highlighted in the 'My Story as an Unpaid Carer' posts. I found it easy to read and there are some clear illustrations to emphasise the key points. The link at the top of this post will take you to the original article which you can read online or alternatively, download a twelve page pdf version. In the event that the link no longer works, here's a link directly to the pdf:

Carer reported experiences: Supporting someone with a rare disease

One of my aims as a Peer Leader is to be a voice for unpaid carers whenever possible and I'll likely make reference to this paper in future if asked to speak again about my role as an unpaid carer. My grateful thanks to the authors and contributors for highlighting the needs of an underrepresented group. 

My Story as An Unpaid Carer - My Coping Strategies

Do you remember the second part of the definition in my post titled ‘My Story as An Unpaid Carer - A Carer Profile’? It stated, ‘needs support to manage a life of their own.’ This part is often not considered by anybody; least of all the person caring and that can have a huge impact on our health and well-being. So how have I been helped or helped myself?

It goes without saying that our family and closest friends have all been the biggest contributors to our well-being as a family, and their support has been invaluable. I’m very mindful that they’ve also been impacted by Harrison’s condition to various extents, so I’ll be sharing their perspectives in future posts. We certainly wouldn’t be coping as well as we do without them.

Other individuals who have supported me by thinking ‘outside the box’ include:

Responsive Medical Staff – I’m referring here specifically to the to the two incidents in my post ‘His Story - Post Diagnosis 5 - 8 Months’ where I briefly wrote about my collapse from exhaustion on the children’s ward and again when the community nursing team found me barely able to stand at home due to my relentless caring schedule.

In both these examples the nursing staff immediately recognised that I needed support to be able to continue my caring role. Without delay (and no bureaucratic form filling!), they reorganised their schedules to temporarily look after Harrison so that I could take a short rest. Thanks to their compassion, this was all I needed in these circumstances to re-energise me.

‘Can Do’ Administrators – In the past couple of months I’ve had a great experience with two non-clinical hospital staff members. One has chased different departments to save me calling each one and the other gave me her work mobile number so that after I’d organised an appointment for a different department, I was able to call her directly to co-ordinate an appointment in her department for the same day. Only having to travel into London on one day for multiple appointments not only gives us time back (a single appointment can disrupt a whole day once travelling and clinic waiting times are factored in) but also reduces our fatigue generated from the forward planning and travelling to and from the hospital. Small acts of kindness that make a big difference to a carer’s workload.

As I mentioned in my carer introductory post, the carer support in an individual’s own local area will vary, and although in theory there are carer support groups, the only carer support I’ve ever had, is from other parents in online forums. Having said that, I’m the sort of person who will seek out my own coping mechanisms, so most of the strategies below are my personal approaches to keeping myself moving forward: 

Voluntary Work – Enables me to use my skills, knowledge and experience in a positive way to improve the lives of others. It gives me a sense of fulfilment without the pressure of a regular commitment. It also helps to improve my confidence and self-esteem, develop new skills and / or improve existing ones. Examples my voluntary work include; Chair of a national charity, patient and public engagement opportunities through the Royal Brompton hospital and national Peer Leader Network.

Dance Classes – I’ve always danced, and pre-pandemic I would attend several classes per week. It was my escape; I couldn’t think about anything else when I was concentrating on learning the routines or improving my technique. It was also where I’d developed some good friendships so it was my main source of socialisation too. It was the only place where I was known as myself and not for being Harrison’s mum.

Lockdown gave me the opportunity to try dance classes from different providers. Although online classes didn't work out for me with the dance school I used to attend in-person, everyone had to become more flexible. It no longer mattered where anybody lived and I suddenly had access to virtual classes being offered worldwide. Not knowing the other participants and with everyone being online, worked much better for me. Many of the online classes have now ceased but I’m still able to subscribe to virtual classes which actually fit really well around my other commitments.

Crafting – I love creative activities and usually have many different types of projects on the go simultaneously, which means a constantly messy work area! Unfortunately, I don’t usually start working on my projects until about 9pm, by which time I’m already falling asleep! In June 2020 I fulfilled a long term goal of learning amigurumi. I'm slowly building up a large community of crocheted animals. Many of my unfortunate friends and family have been the recipients of my bespoke creations! This was my first attempt:

Video calls with friends – When the whole country locked down, a friend for over 35 years who lives abroad, started a regular Sunday night video call with me and two others. We’ve kept it up every week since and have all benefitted hugely by reconnecting in this way. Incredibly, we usually speak for nearly three hours but never run out of anything to say! It's become the highlight of my weekend. I also have video calls with other friends that I’d usually have met up with socially.

Writing blogs – I wrote my first blog in 2009 to inform friends and family how Harrison was getting on following one of his major heart surgeries. It meant that I could give informative updates without taking me away from his bedside for too long making phone calls. From then on, I continued writing and sharing short blogs for holidays and other hospital admissions.

When lockdown started in March 2020, I wrote a private lockdown blog (effectively a diary) every day for the first 600 days to manage my mental health around our forced isolation. I still add to it sporadically. Writing things down really helps to clear my head.

The purpose of this blog about 22q Deletion Syndrome is more than that though. My aim is for it to be a tool to educate, support and inspire too.

Having established my coping mechanisms it's not all rosy. Some days I have a complete mental block and can’t function. However, I’ve learned to give myself some time, whether it’s a few minutes or a whole day, and by choosing one of my personal coping strategies, I’m able to get myself back on track and on with the job of caring for Harrison.

My Story as An Unpaid Carer - The Impact of Caring

For me personally, it’s my choice to care for my son full time. Despite this, it has had a big impact on our lives.

At the centre of the circle on this slide is Mr Nobody from the Mr Men. The reason I picked him to illustrate this topic will hopefully become clear soon. In addition to being Harrison’s carer, I’m still trying to maintain a sense of who I am too. 

In no particular order here are the main impacts of caring on me:

Loss of income – Not contributing financially to our family is hard for me. We did try out adult social care for Harrison so that I could go back to work but the stress that it caused all of us trying to implement it appropriately to meet his needs, outweighed the financial benefits. Instead, we adapted our expectations from life and consequently appreciate different things now.

For being Harrison’s main carer I’m paid an allowance of £69.70 per week by the Department for Work and Pensions. This equates to roughly £3,600 per year. I did a little research into the salaries for each of the jobs in my caring profile (see previous post). The average salary for those 9 jobs would be approximately £33,000 per year. So, you can see that there’s quite a substantial difference between what I’m paid for caring and what the roles would pay if I was seeking employment in just one of those positions. 

This is before you consider what my salary would likely have been if I’d have been able to continue working. The average Training Manager salary is £46,000. I like to think that I might have achieved a management role after 24 years! Apart from some temporary work which never lasted very long, due to the unpredictability of 22q Deletion Syndrome, I’ve not worked properly since Harrison was born. As a very rough comparison of my actual and potential income looks like this: £86,400 in carer’s allowance versus £1,104,000 for full time employment or £552,000 for a part-time role for roughly 17.5 hours per week over 24 years.

Loss of social life / isolation – Having to be responsive to Harrison’s medical condition has caused my relationships with some friends to deteriorate over the years. Being unreliable and cancelling meet ups at short notice meant that some friends fell by the wayside. It wasn't their fault; I can only imagine how frustrating our situation was for them. At the time it was upsetting to lose their friendship when I desperately needed their emotional support. However, over the years I've developed new friendships who are all understanding of our family situation.

The Covid-19 pandemic has re-highlighted my sense of invisibility. I felt on an equal par with the rest of society when the whole country was in lockdown. It was brilliant! Suddenly everyone had a glimpse into our lives. A highlight for me was the dance classes that I attended for my own mental health benefits, moved online. However, as soon as they were able, the dance school reopened for in person classes. Although I was able to join in virtually, it highlighted my isolation which upset me. I could see all of my friends together in class and I couldn't physically be there with them. I won’t even mention my appalling spatial awareness and inability to work out which way I was supposed to be facing or which arm or leg I should have been using! All exacerbated by having a screen between us. Unfortunately, instead of reducing my stress levels, it started to increase them, so I no longer attend. I’m coping much better by just knowing that all my friends are there but not actually seeing them in class without me.

Overwhelming sense of responsibility – I feel as though I'm muddling my way through trying to coordinate Harrison's care in adult services both medical and social care. It seems that if I don't do it nobody else will. There have been examples of this where he's been under several consultants for various parts of his condition but for whatever reasons he's not been followed up as stated in clinic letters. In paediatrics Harrison's paediatrician would have picked this up and now, because Harrison can't do it himself, it falls to me. I spend a fair amount of time calling medical secretaries trying to organise tests, therapies and appointments. I also seem to be the middleman between our local and London hospitals because they don’t always communicate very well with each other.

Emotional drain - Having to constantly think outside the box to solve problems or find a solution that works for several parties; all the chasing and coordination required; and being alert to any changes in Harrison's condition are extremely draining.

Loss of identity – Along with the loss of income, there’s also the loss of career which for me was part of my identity. I was proud of the job I had, which had improved my self-confidence and self-esteem. No longer having that to talk about with friends and family was really difficult. Perhaps I have the wrong mindset about ‘just’ being a carer but medical and other professionals involved in Harrison’s care unintentionally reinforce that when they refer to me as ‘mum’ which makes me feel inferior in the relationship with them. 

When I’m trying to establish a partnership in the best interests of my son’s care, there’s never time to find out who I really am and what skills, knowledge and experience I have.

Burnout – In the first few years of Harrison’s life, his medical condition was far more unstable and required constant supervision and interventions (therapies, feeding, medications, 24 hour oxygen support). This led me to burnout and collapse from exhaustion a couple of times. Whenever he was admitted to our children’s ward, I’d be asked who our social worker was. We’ve never been assigned one and we didn’t qualify for respite. Apparently, we appeared to be ‘coping’ and didn’t qualify for extra support schemes because we weren’t socially disadvantaged. 

Close Relationship – Although this post sounds quite negative, caring for Harrison has given us an incredible bond because we spend so much time together. I’m extremely grateful for that and can't imagine what it would be like to not be with him all day, every day. He really is a joy to be around.

My Story as An Unpaid Carer - My Caring Roles

Harrison is our only child and as you may recall, he was diagnosed at the age of four months with a complex heart condition and 22q Deletion Syndrome. Although I was already caring for him as a mother, from the point of Harrison’s diagnosis that stepped up into becoming his main carer too.

Let's explore the roles that I personally do as a carer. Obviously, some of these do overlap with being a mother, however the extent to which I do these is more intense than if I was ‘just’ his mum.

For each carer, they will concentrate their efforts in different ways. The individuals they care for will have different needs and disabilities not just from each other but possibly over time too. A carer needs to be flexible and responsive.

These are my roles:

Once again, apologies for the tiny writing on the slide. The roles are all listed below with a brief explanation. I've taken them in a clockwise direction starting at the top with all the burgundy boxes first and then the purple ones at the bottom of the post. 

Secretary - Keeping and organising appointments and records; dealing with doctors, nurses, the local authority (education and adult social care teams), filling forms, making holiday arrangements (an extremely complex process!) and ensuring all paperwork, insurances and travel adaptations are in place.

Finance manager – Dealing with benefits agencies, local authority finance team, sourcing special equipment and aids. A perfect example of this was today where Harrison had been randomly chosen for a telephone review of his Personal Independence Payment (PIP). This is a non-means tested benefit for individuals who have a long-term physical or mental health condition or disability. For those who have never seen a PIP assessment form, it's a forty page A4 document and in Harrison's case, I have to attach several additional pages of my own typed responses because there isn't enough room in the original form to fully answer the questions. The payment is awarded for various lengths of time so a claimant (or their representative) has to recomplete all of the paperwork from time to time, and supply any evidence requested, to continue receiving the benefit. As Harrison's appointee, I took the call today on his behalf. It lasted an hour and a half!

Nurse - Giving medicine (which over the years has included been taught to draw up and give long courses of intravenous antibiotics at home; tube feeding; managing delivery of oxygen therapy 24 hours a day for two and a half years); ordering and administering multiple medications several times a day; delivering therapy programmes at home - speech therapy, physiotherapy, occupational therapy; setting up, monitoring and maintaining medical equipment; generally being on constant alert for any deterioration in Harrison's wellbeing (he's not able to identify this for himself). 

Chauffeur – Driving Harrison to activities and appointments.

Teacher and facilitator - Providing and supporting appropriate stimulating activities and learning opportunities, socialisation, mindfulness, creative activities, exercise and sometimes even doing things just for fun!

Personal assistant – Supporting Harrison with washing, grooming, dressing; accompanying him to all his appointments and social activities; helping him to plan and organise his day; constantly reassuring him and reminding him, whilst trying not to come across as overbearing or a nag!

Friend – Confidant and sounding board. I've always been honest with Harrison regarding his condition and life in general. This has given him the confidence to tell me about things that are worrying him. He doesn't always do this in a timely manner so I try to pick up on any emerging signs and start a conversation with him. 

Housekeeper – Harrison doesn't have any practical skills. I've tried teaching him over the years but he doesn't retain the need to do daily tasks such as laundry, washing his dishes, clearing up after himself etc. He will do part of the task with direct reminders e.g. put his clothes in the washing basket and plate in the dishwasher but genuinely doesn't realise that his plastic drinking cups that he leaves next to the sink, need to be washed up. 

I have to ensure that I cook appropriate meals for Harrison (he has difficulty eating some foods) which often means that he has a different meal to us, and I sometimes need to encourage him to eat.

Researcher - For advice; medical papers; social and educational activities; clubs; accessibility of places of interest; places to visit.

Now you could say, that as Harrison's mother I would be doing a lot of these things anyway, however my friends who have typically developing young adults the same age as Harrison no longer need to do a lot of these roles or have never needed to do them.

Over time, they've been able to take a step back and allow their young adult to take more responsibility for most areas of their life. 

In our case, we can try and give Harrison some sense of independence with choices of activities and things like that but a change in circumstances throws everything off course. A recent example of this would be the COVID-19 pandemic.

Harrison was classified as clinically extremely vulnerable (CEV) which led to us shielding him for the past 800 days, so inevitably the independence Harrison did have has taken a step back. For example, pre pandemic he had a good routine. With activities going online during the first lockdown it was somewhat maintained and he was able to more or less organise himself with reminders and checks from me. As the country opened up again, and Harrison’s activities went back to face to face, the online classes ended and he hasn’t been able to settle into a new routine yet because he's still stuck at home. 

As his main carer, I’m on call 24 hours a day although I can actually sleep at night because Harrison’s overnight medical equipment will alarm if he suddenly becomes unwell.

In addition to all the caring, I’m also:

A casual worker on an ‘as needs’ basis for a couple of hours per week doing an administrative role usually working from home. There’s no specific daily commitment required so I can fit the work around Harrison’s needs and other activities.

A volunteer as the Chair of trustees for a UK charity. I'm now also a Peer Leader working on patient engagement projects nationally, locally, and at the Royal Brompton hospital. All but one of these projects are conducted via completely virtual meetings.

A wife. Although we’re in complete agreement that Harrison’s needs come first, I still need to consider our needs too. Whilst the three of us have been 100% ‘working’ from home over the past two and a half years, I’ve tried to be mindful of everyone’s needs and prepare all of the meals (no take aways or meals out). It's a real challenge to try and offer interesting and varied options day in and day out, especially when you don't enjoy cooking!

Harrison’s mother. It’s becoming increasingly difficult to balance his medical needs versus mental health needs. Individuals with 22q deletion syndrome have a higher incidence of mental health conditions than the general population. I’ll be covering this separately at a later date so I'm not going to go into too much detail here except to state that the mental health aspects of 22q deletion syndrome can range from anxiety all the way up to schizophrenia. When you know that there's a higher risk of a mental health condition developing, you have to more carefully consider the impact of decisions regarding generalised medical needs.

It’s safe to say that I’m fully occupied from the time I get up to when I go to bed!

My Story as An Unpaid Carer - A Carer Profile

Carers fulfil several different roles which I'll explore in my next post. The picture on the lefthand side of the image below highlights some of the generic aspects of caring:

Apologies for the tiny writing. Hopefully you can get the gist via the images if you're not able to enlarge the slide. 

The first part of the definition for a carer is pretty self-explanatory - 'Cares for family or friends who have a disability, illness or who need support in later life.' I think it's safe to say that we'd all probably come up with something similar if asked to briefly describe what a carer does.

As I've just mentioned, I’ll go into more depth into what I actually do as a carer in my next post but the point that I really want to highlight here, is something that I've not actually seen in the definition of a carer before and that's the second part of the definition where it mentions ‘Needs support to manage a life of their own.’ 

I think you could look at this in two different ways. Clearly, the person being cared for needs the support to manage a life of their own however I’ve learned over the past 24 years that the carer needs support too. In my experience, that’s often forgotten and to be fair, the carer usually puts their needs right at the bottom of the pile and doesn't give them any regard because they consider them less important than those of the individual and other family members that they're caring for.

Depending where you live in the UK there are various support groups for carers. Sometimes the local communities set up their own groups which are either in person or online and some local authorities are mindful of carers needs and try to support them the best they can. However, in my experience, carers need to source this support themselves and it's not always easy to find. 

In my personal experience, I joined various chat forums (pre social media!) for Harrison's genetic and cardiac conditions and used them for support rather than a specific group for carers. I think the important thing is, that carers are able to engage with individuals who understand what it's like through their own lived experience. If carers have social media accounts, it's far easier nowadays to get virtual support from all over the world. This can be invaluable when a carer is looking for a quick response. However, sometimes you just need a bit of in person support too and the simple act of making a carer a cuppa shouldn't be underestimated!

My Story as An Unpaid Carer - Introduction

I know, I know, I keep promising to finish Harrison’s story to give you an overview of our lives for the past 24 years and yet again I'm remaking that promise to you! As these next five posts are in relation to National Carers Week I hope the by the time you've read about my caring role you'll understand why I haven't got round to finishing off the summary of his story. It is on my To Do List and I promise I will get there but I can't say when it will be. Please bear with me because it will help you to understand more about life with a complex genetic condition.

So, this is the first time that I’ve ever examined my role as a carer. When I tell our story, it’s usually about Harrison or specific aspects of his condition, and the impacts on him. Now that I’ve done it, I’m glad that I decided to share my perspective of caring. 

Over the next few posts, I’m going to share the presentation that I gave in November 2021 during my participation in the Peer Leadership Development programme. We were allocated ten minutes each, so I only had time for an overview. This surprised me because I really didn't think that I'd be able to fill the time talking about being a carer. However, it turns out that I could have gone on for much longer as you'll realise if you wade through all these carer posts! I’ve taken one slide per post so that I can expand them out and add extra comments whilst still keeping things fairly brief (most of the time)! I've changed some of the original text so that it fits better in this blog. Some of the actual wording that accompanied my slides in the presentation, has already appeared in  previous posts. Where this is the case, I'll reference the post title so that you can look back for the full detail, if you wish. 

One last point to note before I get started - this is my account as one parent carer for one individual with a genetic condition. All carers will have their own perspective on their role which may be different to mine.

Here’s my introductory slide which highlights the topics for my following four posts:

The man juggling the hoops illustrates my life. Being a carer is just one aspect of it and I can’t explain how I spin so many hoops at once; it’s become a way of life for me. I can honestly say that I don't usually give it a second thought. I was talking to a friend the other day and it suddenly dawned on me the adjustments that we, as a family, automatically make to our daily lives to accommodate Harrison's needs due to his condition. 

My message for other families in a similar position to us, is to do what works for you and your family. People may comment and offer their opinions or suggestions but unless they're in the same situation as you (and even if they are, the adjustments may not necessarily need to be the same) don't feel that you should justify or think that you're doing the wrong thing because your actions don't fit into the 'normal' expectations. 

In the past I always tried to fit our family in with everyone else. Now I accept that we do sometimes need to do things differently which will have an impact on arrangements we make. Thankfully we have very understanding family and friends.