Finally!! A light at the end of the tunnel – treatment has arrived for Friedreichs ataxia :-)

A new drug called Skyclarys (omaveloxolone), omav, was approved by the FDA (Food and drug administration) in America in February 2023, for FA patients 16 or older, regardless of state of progression.

A little bit about omav (omaveloxolone)

In 2009, researchers from the laboratory of Dr. Pierre Rustin, at Inserm in Paris, published a paper demonstrating that FA cells do not produce enough of a protein that helps protect cells from stress. This protein, called Nrf2, is critically important in protecting cells from oxidative stress, which is a destructive type of trauma that FA cells experience. A lot of research work with FA patients continued, and in 2015 Reata Pharmaceuticals began to test the Nrf2 activator, now called omav, in people with FA. The data gathered at clinical trial was based upon participants who were aged 16 to 40 years old, the clinical trial showed safety and an overall positive effect from omav. Since then, Reata has continued to collect and share more data on the long-term effect of omav, showing the drug could slow progression of FA by more than 50% for some individuals.

What happens next?

Well, that all very much depends on us (people with Friedreich’s ataxia in Ireland). Omav is up for approval into Europe by the EMA (European medicines agency) in early January 2024 and even when/if it is approved by the EMA, we here in Ireland will have to wait until the HSE (health service executive) approve it for use. One year’s supply of omav for one person is estimated to cost over €250,000. Yep over a quarter of a million euro for just one year’s worth of omav!

So, if we are to benefit from omav, we have no choice but to convince the HSE to supply it to us. And how we go about doing that, is using our strength in numbers of people with the Friedreich’s ataxia in Ireland, to sign up to the Friedreich’s ataxia registry for Ireland (please click here). The more of us that sign up to demonstrate that there is a significant need for omav, the better our chances are of convincing the HSE to approve the supply of omav.

So I am asking/pleading with you, or people you may know who may have Friedreich’s ataxia, please sign up.

FARA (friedreichs ataxia research alliance) Ireland are continuing their research and fundraising efforts, to visit their webpage click here or to visit the Facebook page click here.

Please support Ataxia Foundation Ireland (AFI). AFI are a charity set up by people with Ataxia for members with Ataxia, they provide services from the perspective of a person with Ataxia. If you would like to fund services for people with ataxia please donate to AFI via the AFI website or their facebook page. If you’re interested in voluntary work with people with Ataxia please visit the AFI website to speak to them.

Where has perspective gone?

I feel like some people just don’t know how lucky they are, seriously live in my shoes for one week then explain to me why it is so difficult for you to wear a face mask.

You decide you want to take the train somewhere, well tough luck because unless you give 24-hour notice to the train stations you are travelling to and from nobody will be there to assist you on and off the train. You decide you want to take the bus somewhere, well tough luck because you have to give 24-hour notice to the bus station you are leaving from and the going to you will not be accommodated on the bus. Even then there are very few wheelchair accessible stops you can actually get off the bus. Of course this is only even possible on the rare occasion the lifts are actually working in the train and bus stations.

These are only a few of the truly pointless restrictions my government imposes on me on a daily basis as a wheelchair user, so while we are in the midst of a pandemic can we not have a little perspective?? Is wearing a face mask really that difficult? Or making sure you socially distance? Or washing your hands? Or using a hand sanitiser?

 

 

 

Why does everything have be a fight?

There is just no logical reason why living with Friedreich’s ataxia in 2019 is still such a struggle. I have come to accept my fight with Friedreich’s ataxia will never end, it hasn’t been easy it will never be easy and it most certainly is not easy in the present moment but there is nothing I can do to change the fact I have Friedreich’s ataxia so I either have to learn to live with it or don’t have a life and let the Friedreich’s ataxia take over my body.

But what I CANNOT AND WILL NOT EVER ACCEPT IS THE CONSTANT NEED TO FIGHT FOR EVERYTHING I NEED TO LIVE. I need help (somebody who can use a hoist) to get out of bed in the mornings, use the bathroom during the day, and to get into bed at night – these are of course the absolute minimum amount of everyday things I need help with. You might imagine meeting these needs should be easy enough, well you’re wrong, and I have had to fight since 2016 for the little help I do receive now. When you apply for PA hours they are very quickly sanctioned (because my occupational therapist and physiotherapist make my case with my application), then the HSE send me out a letter telling me that my PA hours have been sanctioned but that there is no funding for additional PA hours available so I am on a waiting list. So what do I do now?? Because other than building a time machine and going back 10 years to when I could do all these things myself I really cannot do anything.  Are the HSE under the impression that I want to have this horrific degenerative neurological lifelong disability? Or A stranger to help me to get out of bed in the morning, or use the toilet, or get into bed at night?? Clearly they are. (This constant struggle takes all my energy and leaves me feeling upset stressed out hopeless frustrated and angry

I have needed a new wheelchair since 2015, I need to go to a specialised seating clinic because my muscle deterioration is causing my pelvis to drop and my upper body to slouch to one side. I have been on the waiting list for this clinic for over three years I finally got an appointment in July 2018 I had 2/3 follow-up appointments make sure everything I needed from a new wheelchair was being accommodated. I was told the new wheelchair was being ordered. By the end of September I had heard nothing from anyone so I made some phone calls and was told that I would have the chair by the end of October. The end of October came and went without me getting a new wheelchair the backrest of my current wheelchair literally started to fall apart and by the end of November I was in continuous back pain and for all those months my occupational therapist assured me my new wheelchair had been ordered and was on the way then finally in December 2018 I had an appointment to go to the seating clinic and collect my new wheelchair. It is now July 2019 and my back is still sore and aching. (This constant struggle takes all my energy and leaves me feeling upset stressed out hopeless frustrated and angry)

I am no longer able to transfer to the toilet on my own so I use a hoist, I need a portable hoist so I can use the toilet when I’m out of my house, I made my case I had my occupational therapist giving her professional opinion that I need a hoist to use the toilet safely, I was met with “there is a strict directive from HSE management there is no more funding for new equipment available”. And here I am again so what do I do now?? Because other than building a time machine and going back 10 years to when I could do all these things myself I really cannot do anything, obviously the HSE would be happier if I just never left my house, where I have a hoist, ever again. Are you happy this is the ‘inclusive’ society we are building in Ireland in 2019?? (This constant struggle takes all my energy and leaves me feeling upset stressed out hopeless frustrated and angry)

i could tell you about so many more incidents over the years in my dealings with the HSE but I just don’t have the energy, I have to ask are the HSE trying to kill my will to live? I think this must be a new policy to make life easier for them because this constant fighting and struggling with them just to have my basic human needs met is exhausting. I am not looking for anyone’s sympathy or pity I just want people to understand the constant battles that people with disabilities face daily just to live a life.

Living with a lifelong degenerative disability

I can still vividly remember sitting down on the couch with my parents either side of me when I was 13 years old being told I had Friedreich’s ataxia. It’s weird how I can remember the exact design details of the couch we were sitting on yet not a lot of what my parents actually said after they told me I had Friedreich’s ataxia. I remember walking up the stairs to my bedroom that night, having the usual trouble getting up the stairs and hugging the banister thinking “okay, I can handle this it’s not so bad I can still manage to get around”. I’m 34 years old now and I would do anything to get the unsteady body of my 13-year-old-self back.

When I got into my 20s I got to know people in their 30s and 40s who were full-time manual wheelchair users as a result of accidents or medical conditions, and again I remember thinking “okay, I can live with using a wheelchair for the rest of my life, it’s not so bad at least I can still get around by pushing myself”. I’m 34 years old now and I would do anything to get that wheelchair pushing body of my 20 year old self back.

Since entering my 30s simple everyday tasks such as brushing my teeth have become more difficult and the constant exhausting fatigue is getting worse, I can’t help wondering what will my body be like in my 40s and 50s? I feel like bit by bit my Friedreich’s is attacking my body, I had to start using a wheelchair in my late teens, I had to do intensive physio and gym work in my 20s in order to keep using my manual wheelchair, now selective hearing, constant fatigue, electric wheelchairs and accessible vehicles are a reality in my 30s as my muscles continue to degenerate, what’s left to attack? My internal organs?

I am not writing any of this to inspire anyone’s sympathy, I simply want people to understand what it is like to live with, a lifelong degenerative disability, Friedreich’s ataxia.

I believe I also have a different outlook on life because of my Friedreich’s, I don’t do regrets because if I don’t do it now I don’t know if I will be physically capable of doing it again so if I have an opportunity to try something new “why not?” I understand the importance of family, friends, laughing, living in the moment, being happy, being able to laugh off a ridiculous situation, to be able to take the good with the bad, of feeling loved and being able to love. I try not to stress over the little things, sometimes very unsuccessfully something my husband will no doubt testify to! Because I have plenty of stress about the big things I need in my life, such as being granted funding for aids and appliances like manual wheelchairs, electric wheelchairs, hoists, electric beds – you know the luxuries somebody with a lifelong disability becomes accustomed to because that’s what they are not essential items!!

There is of course plenty of bad and it would be very easy to just give up and completely give in to the Friedreich’s, but I don’t want some of my last thoughts to be “I wish I’d done…”, I believe “this is the only life you will get so make the most of it” 🙂

I am going to be visiting Singapore, Malaysia, Thailand and Perth, Australia next year so any help or advice on accommodation/things to do/how to manage the weather/climate would be much appreciated. Thanks 🙂

Please support Ataxia Foundation Ireland whom in turn support all their members.

 

 

 

Love, hate and my Friedreich’s Ataxia

I want to be clear about a few things before I go any further: I hate my Friedreich’s ataxia because of what it has done to my body, what it is doing to my body and what it will do to my body, the life I never had because of it, the experiences I have to have and the way I have to live my life now and the life I will have. I would do anything to cure myself of Friedreich’s ataxia.

It took me a long time to accept Friedreich’s ataxia into my life, I don’t want it but there is no escaping it and it has to be acknowledged (the reason I’ve learnt this is mostly because I tried to ignore it for so long!) I feel lucky to have the life I have now, a fantastic husband an amazing family and great friends.

Even if I was completely able-bodied I don’t think I would ever have been the kind of person who jumps out of bed every morning smiling from ear to ear, but I really don’t know because any of the decisions I remember making in my life have all been made with Friedreich’s in mind – even when I was ignoring it! When I was showing symptoms but I still haven’t been formally diagnosed it still influenced my decision-making – I didn’t want to go to a shopping centre because it meant a lot to walking across open areas and I needed a wall to balance me, I didn’t want to go the route for a bike ride because it had a long the steep hill and I knew my legs would tire and walking it simply wasn’t an option I didn’t want to go swimming with my friends because walking along the edge of a wet pool with no support had become increasingly difficult.

Please don’t want take me up the wrong way, I love my life and the people in it – I am well aware of just how fortunate I am to have such love and support, but there will always be the question in my mind “if I didn’t have Friedreich’s ataxia where would I be? What kind of life would I be living?” I say I’do anything to cure myself of it, however, I’d like to think that even if some miracle drug is found it would not change who I am because my Friedreich’s ataxia doesn’t define who I am,  yes I most certainly have made certain choices because of my Friedreich’s ataxia but my Friedreich’s ataxia is not me.

Ataxia Foundation Ireland (CLG), affectionately referred to as “AFI” Is a charity founded in 2016 by four people each of whom are living with a type of ataxia “by members for members”.

They have spent the last 16 months developing an organisation founded on the principles of “Autonomy” and “inclucivity”, members running and managing the charity, they are currently defining their processes and procedures, supporting members, all on a voluntary basis.

Faith

Do I have faith? It’s quite a big question isn’t it? It’s definitely a personal question in my opinion.

The simple answer is no I don’t, many much smarter people have pondered the same question and they don’t seem to have come up with a definitive answer and to be honest if that was all I had to worry about I’d be delighted! While I don’t believe there is someone in the sky judging us for everything we do, I believe in science, I believe in people, in humanity, in our ability to achieve and overcome obstacles. I believe in right and wrong, helping one another, being kind to one another and basically I believe we all need to try and be decent people.

As you know I’m Irish and I was living in rural Ireland when I was diagnosed with Friedreich’s Ataxia in the late 90s, so I am definitely familiar with the ‘God help you’ and the ‘God bless you’ and other God phrases, and you know what I can live with that. Mostly it’s habit or just awkwardness or lack of knowledge or more often than not it’s all three since there is no rulebook on how to react when someone tells you they have a lifelong degenerative disability.

I do understand that many people choose to believe and I respect that, but why do they feel that they have the right to push their faith onto me? It’s wonderful that you believe and it gives you comfort but why do you think telling me your belief is going to make my life any better?

I may have grown accustomed to the God phrases, but while I was on holidays recently I encountered several incidents that were honestly quite unnerving.  People who felt the need to physically put their hands on me, a particular favourite seemed to be at airports; complete strangers walking over to me putting their hand on my shoulder and telling me that ‘God loves you and will have a special place for you in heaven’ or some equivalent platitude. Usually I am expecting it, but this was a whole new experience and I honestly was not expecting it so I didn’t have my usual ‘grand thanks’ phrase or face ready. I was genuinely freaked out and because it happened so quickly I didn’t even get the chance to say anything in response to the person.

I’m not even sure what my response would have been – probably along the lines of ‘what do you think you are doing? Get your hands off me now! Why on earth do you think it’s okay to put your hand on a stranger and say something like that?? I didn’t go over to you and tell you that I don’t like your jumper!’

I suppose my point is that I respect your choice to have faith, please respect my choice not to.

Please support Ataxia Foundation Ireland (AFI). AFI is a new charity set up by four people who have Friedreich’s Ataxia, they aim to provide services from the perspective of a person with Ataxia, someone who has lived and is living with the condition and could help someone come to terms with a recent diagnosis. So if you would like to fund services for people with ataxia please donate to AFI via their facebook page, or if you’re interested in voluntary work with people with Ataxia please visit the AFI website to speak to them about that.

 

Having a Personnel Assistant

I’ve been very lucky up until now, I have of course needed someone’s assistance getting into/out of bed, showering and getting dressed for years; but now at 33 years old I don’t just require assistance I require time, a lot of time, as well as assistance to carry out these everyday tasks. While my family have been amazing giving up so much of their time to help and accommodate me, I decided I didn’t want to burden them with as much of my daily care (getting up, dressing, showering) as well as taking me to hospital, consultant, physio, etc. appointments.

I spoke to my public nurse and filled out the relevant forms to be given PA hours over 15 months ago. I have RECENTLY started to receive those hours.

Having a PA has made me feel more at ease, mainly because it has taken some of the pressure off my family. It’s a great feeling of independence to be able to get up and shower at a time I choose rather than having to depend on my family to make time to help me. The biggest question I have is why did I have to wait so long for it to be approved?

I never wanted to be in the situation I am in today I don’t want special treatment, however why does the government expect people with disabilities to fight for everything that they need? I have no doubt if I stopped a stranger in the street and told them about a few of the battles I’ve had the with the powers that be in order to get equipment/PA hours – simple things that give me some dignity – that stranger would have empathy. Isn’t that the kind of society we want to live in? One that’s fair and equal for us all? So why is it that our government don’t??

Ataxia Foundation Ireland is a new Voluntary National Support Group for people affected by Friedreich’s Ataxia and other Ataxia’s. Their mission statement is “Our aim is to provide support services to people with Ataxia and their families and in order to do so, we have established this organisation which is run and managed by people with this condition.” They welcome any person who has Ataxia, their families and friends to complete membership forms, which are available on their website, under the “Members Area” tab, or by post on request. They have Liaison Officer whom is available to talk to anyone who would like to discuss a problem or simply chat to someone who can help.

They’re a very small organisation and they rely on your support to make their vision for people with Ataxia the reality for people with Ataxia across Ireland. If you’re interested in getting involved and helping them out with a fundraising event of your own, they would love to hear from you and will be there to support you every step of the way.

 

 

 

 

 

Holidaying with Friedreich’s Ataxia

I love seeing the world; saving, budgeting, and cheap hobbies such as reading, listening to music and browsing the web for cheap deals, make that a possibility for my husband and I.

We hadn’t had a sun holiday for a few years so we decided we just wanted to relax, get some sun, go for a swim and not get stressed about going sightseeing. Not a tall order you’d imagine, but as soon as wheelchair access becomes a factor it’s not as simple as it sounds!

Which is the reason I was so delighted when I stumbled across Las Piedras’s website. Las Piedras is a wheelchair accessible hotel in Andalucía, Spain; having had some very disappointing experiences regarding wheelchair accessible accommodation in mainland Europe over the years I always ask for photos of the bathroom/en-suite I’m going to use, which the owners of Las Piedras sent me no problem.

I was taken aback the photo was so good, there was a walk in shower with a shower chair and well placed grab rails around the shower controls, the toilet wasn’t a high toilet but it was higher than standard mainland European toilets, the horizontal and vertical grab rails were well positioned. The pool and Jacuzzi on the hotel grounds both had hoists for getting in/out of them, finally somewhere that ticked our boxes – we booked a week away in April.

Las Piedraswas even better than we expected, the owner (Adrian) picked us up from Malaga airport in a wheelchair accessible mini bus, as we drove the forty minute journey to the hotel, Adrian told us about the area. There are also hoists and profiling beds available at the hotel upon request. We stayed at the hotel during our first few days relaxing, swimming, enjoying the delicious food, soaking up the sun, but there was an option to go on an excursion. These entailed Las Piedras staff driving, in the wheelchair accessible mini bus, the hotel guests to various accessible attractions within an hour’s drive of Las Piedras.

My husband and I thoroughly enjoyed the break, it’s also uplifting to know that there are businesses such as Las Piedras who honestly cater for everybody!

Needing to bring and pay a PA on a foreign holiday can mean a foreign holiday is financially impossible for some. Please contact Ataxia Foundation Ireland (AFI) if you are willing to donate some of your time or money to help.

PLEASE SAY ‘YES’

I have Friedreich’s Ataxia (FA) a rare, genetically inherited, progressive neurodegenerative disease. Skyclarys is the first treatment in the world for FA. It helps slow disease progression. The European Medicines Agency (EMA) approved its use in Europe on December 15, 2023. The European Commission granted marketing authorization for Skyclarys on February 9, 2024. Biogen Idec (Ireland) Limited, the manufacturer of Skyclarys, formally requested the Health Service Executive (HSE) to fund this medication through the public health system in Ireland on August 1^st 2024.

Skyclarys first went through an evaluation with a department of the HSE called the NCPE (National Centre for Pharmacoeconomics). They compare the cost of Skyclarys in relation to the level of effectiveness, and they determine if its value for money. After carrying out their assessment, the NCPE did not recommend Skyclarys be funded by the HSE due to prohibitive cost and low efficacy in December 2025.

This is just a recommendation but an influential one, it is not the end of the process as the HSE have engaged Biogen to discuss price negotiations which means there still is a chance of approval if they can agree on a price. The price negotiations are held in private, and the public has no insight into them.

As you can see, we have been waiting a long time to get this far only to have our government tell us ‘No’. I have spent the past 28 years trying to be positive and, after overcoming the many pointless /needless obstacles in place for someone with a disability, and trying to live a relatively normal life, I am just incredibly disheartened by this recommendation. I felt I had to write this to let members of the public know the reality of living with FA for the past 28 years. I also would like it to resonate with the people who are saying ‘no’ and emphasise just how urgently we need them to say ‘yes’. This does not just affect me, but all the estimated 200 people living with FA in Ireland.

I grew up in a small rural community in the North Midlands, and I am now living there with my husband in an annex off my parents’ home. I have been battling against this disease since I was diagnosed at 14 years old – I am 42 years old now and I am losing the battle. Over the past 28 years I have lost the ability to stand, walk, and make coordinated hand and eye movements. My speech is becoming increasingly slurred and difficult to understand- I will soon need to use voice software that is able to replicate my voice from voice banking recordings I recorded over three years ago. My hearing is continuing to get worse – I use hearing aids every day and I still struggle to understand what people are saying unless they speak very clearly and slowly. My eyesight is getting worse to the point that glasses are no longer making a difference as the muscles in my eyes continue to get weaker. This often leaves me completely isolated with nothing but my own thoughts for company.

I began using a manual wheelchair at 17. By 25, I relied on a power chair for longer distances because pushing myself became too difficult. At 36, I increasingly used my power chair in daily life, and by 40 I depended on a power chair with a moulded cushion to correct my posture for almost all activities. The only exceptions are medical appointments where, ironically, narrow doorways usually mean my 810 mm-wide power chair cannot fit.

Now, at 42, I use my power chair with the moulded cushion full‑time. I can no longer sit in my manual wheelchair for more than a couple of hours without experiencing severe hip pain.

These difficulties are what you can see of the effects of FA on my body. I also have cardiac issues, lung issues, bladder issues, pressure sores, and constant pain in my neck and back. I am constantly exhausted no matter how much rest I get. I do a minimum of three hours a day of physiotherapy and FA is still getting worse every day. To say FA has negatively impacted my mental health is nothing short of an understatement. I have lived every day of the past 28 years knowing that it will get worse – every time I lost an ability, I had no choice but to live with the constant sense of loss and grief of losing yet another part of myself. The constant feelings of hopelessness and loneliness as I lose the ability to read, speak, hear, and communicate with the outside world is quite simply devastating.

My older brother also has FA; he has lived with the exact same challenges both physically and mentally as well as having scoliosis. This disease has affected every single member of our family and continues to have a detrimental effect on our family lives.

I understand Skyclarys will not be a miracle cure, but even having the chance of at least slowing down the relentless progression of this disease on my body would be something extremely positive, not just for my brother and I, but for all people living with FA and their families. For myself, I would get to spend more time with the people I love; I would get to see my nieces and nephews grow up, and I would be able to continue to communicate for longer with the outside world.

For young people living with FA who are not as progressed as I am, Skyclarys could make such a positive transformational difference to their lives, allowing them to live longer healthier lives and not have to endure the physical and mental torture I have been forced to live with for 28 years. Therefore, I am asking / pleading with the government to do all they can to allow people with FA to have access to Skyclarys.

If you are reading this and you would like to do something that would benefit people like me, the best thing you could do right now is send a letter to your local TD, asking them to raise this issue with the Minister for Health. Please click here to download a draft letter for people who have FA that can be personalised. Please click here to download a draft letter for friends and family of people with FA. If you would like help writing a letter to your TD about this issue, please contact FARA Ireland at faraireland.eu@gmail.com.

Married to someone with Friedreich’s Ataxia

Greetings.  My wife asked me to write a bit about what it is like to be married to someone with ataxia, and here is my attempt to describe it.  Firstly, it’s quite difficult to say what it is that is different from being married to someone without ataxia, as I have never been married to anyone else. Also, as far as I can tell, we have a pretty normal husband and wife relationship; we support each other, we love each other and she is always right about everything. However, there are the obvious things that are different from most relationships and these are the topics I am going to write about now.

The wheelchair

Probably the most obvious thing to most people who see us together. Planning an excursion to somewhere new involves a bit of research, but it is always surprising what can be done. Snorkelling on the Great Barrier Reef, watching a turtle lay its eggs on a beach in Australia, dog-sledding in the Arctic Circle, and paragliding in New Zealand have all been possible and there is still so much more that can be undertaken. There are, of course, disappointments. But it can be really heartening to see the efforts some complete strangers will go to to help my wife get to where she wants to be.

The reduced coordination

This one can be more subtle but is probably harder to deal with. It is so hard to watch your wife struggle for a few minutes to pick up, for example, a dropped hairbrush, pick it up off the ground and then drop it again a few seconds later in a different position. You know that if you intervene, you’re taking a little more of her independence away and the more and more little things that you keep doing for her will leave her less able to do things by herself. Then you feel like a patronizing idiot for thinking that you know what’s best for her. And then you feel guilty because you’re feeling bad, but it’s not you that’s actually suffering.

It takes a while to get beyond that way of thinking and realize that it is ultimately her decision when she wants you to help her with something. And that you are free to say no, if you want to, and not feel guilty about it.

It’s even harder to listen to your wife crying after a fall, or because her hand got caught in a door or because she sneezed and head-butted her exercise bike. That last one sounds comical, but did actually happen once and it really re-emphasized to me how cruel a condition Friedreich’s Ataxia is. There was my wife, doing her exercises that were trying to alleviate the symptoms, and the ataxia hurts her another way by not letting her control her body during a sneeze, so that she whacks her head against the bike.

Despite the difficulties, one thing Friedreich’s Ataxia doesn’t take away is someone’s personality. My wife is still the same cheeky, argumentative, gorgeous young lady that I first met several years ago. I personally wouldn’t change anything about her. But I would like the issues caused by the ataxia to either stop developing or even be reversed, firstly because I know this would make my wife happier and secondly because it would hopefully give me a few more years as one of the happiest husbands in the world.

Please support Ataxia Foundation Ireland (AFI) fund research programmes by donating via their website, or contacting  Ataxia Foundation Ireland (AFI) directly and volunteering some of your time.