Help and Hope for Sophie

Hello,

My name is Nathan Macdonald and I want to thank you first and foremost for taking a couple of minutes from your day to read about my family and why we have chosen to put together a GoFundMe page. 

Some of you may know of my sister Sophie, and her long term battle with chronic illness. For the past 7+ years she has been dealing with some complex conditions which have had a profound effect on her life and her future. Her life is little more than an immensely challenging existence nowadays and as a “big brother” it breaks my heart to see her suffer so much everyday. 

Despite seeking constant help from the NHS, her conditions as detailed below are in need of specialised care only available through private healthcare and come at a staggering cost. We have created this GoFundMe page to humbly ask for your help in giving her some kind of hope for the future. 

While we understand there is no miracle cure, we firmly believe that access to specialized treatments can significantly improve her quality of life and alleviate the daily struggles she faces-everyone is allowed to have hope. 

As a family we have exhausted our own resources to provide the best care for her but the expenses associated with her ongoing medical needs and potential recovery are perpetual. Any donations raised will be used to cover the costs of much needed specialist consultations, therapies and physiotherapy, which you can read about further below-with the aim of reducing the burden of her chronic illnesses and providing her with access to the care we hope can make a substantial difference. 

I wholeheartedly appreciate everyone is feeling the pinch just now, and we truly can’t thank you enough for any donations, no matter how big or small. Even a wee share on your social media pages will make such a difference to our fundraising. It would mean so much if you could take the time to read Sophie’s story.

Much love, Nath ❤️

-Sophie’s Story-

This is one of the hardest things I’ve ever had to do. I’m so uncomfortable and embarrassed to be having to ask for help and have been so reluctant to, but I’ve reached a point where I can’t continue without it. I really need your help to improve my quality of life and hopefully make some recovery…

Who Am I?

For those who don’t know me, I’m a 34 year old Daughter, Sister, Auntie and friend and live just outside of Aberdeen. At age 22 I was diagnosed with Meningitis and despite facing some health challenges afterwards, could participate in life and was determined to live life to the fullest, but unfortunately this triggered and added fuel to some underlying health issues I was unaware of. In 2016 I had just returned from a charity trek in Patagonia with my Mum, completed my NEBOSH after studying for 2 years alongside full time work in the oil industry, and enjoyed an active lifestyle. I was an outgoing, energetic chatterbox, with a passion for doing physical challenges for charity and dreams of having a family of my own. By the end of that year my health had taken an unexpected turn for the worse and has continued on a downward spiral since. After years of names and suggestions thrown around, including a very damaging misdiagnosis, I was finally correctly diagnosed. Unfortunately I suffer with a range of complex, rarely understood conditions, and have struggled to find much medical support since. I have a genetic condition called Ehlers Danlos Syndrome (EDS) and its comorbid conditions; Hyperadrenergic Postural Orthostatic Tachycardia Syndrome (PoTS) and Mast Cell Activation Syndrome (MCAS) I’ve explained a little about these at the bottom of this page but thought I’d try to explain what this currently means for me....

My Current Situation-

For the past 5 ½ years I’ve been almost completely bed-bound, restricted to spending a minimum of 21-22 hours a day lying flat in a hospital bed in my dark, quiet bedroom. I haven’t been able to walk or even stand in this time either, and my joints can fully or partially dislocate just by turning over in bed. I have daily headaches, migraines and dizziness and my blood pressure and heart rate are so unstable I can lose consciousness if upright for very short periods of time. My muscles are in constant tight, painful spasms and I have numerous braces and supports to help hold my body in place and mitigate excessive movement on key joints. I’m only able to leave the house for crucial medical appointments which take weeks of careful planning and recovery from, and at worst it can be months of not being able to leave my bed at all. Eating a meal uses so much energy and causes pain, nausea and bloating for the rest of the day making it hard to maintain weight and avoid going back on invasive feeding tubes. Medication sensitivities and resistance have made it difficult to find treatments that help ease symptoms without causing further issues or anaphylactic reactions, leaving me in huge amounts of pain everyday. It hits me before I’ve even opened my eyes, if I’ve managed to get any sleep at all. If I do its non restorative as nothing seems to help the constant debilitating fatigue, leaving me with little energy and few “usable” hours in the day-the simplest activities leave me exhausted due to post exertional malaise. My independence is a thing of the past and I need help from my Mum; who’s also now my full time carer, as well as a number of mobility aids for almost all simple daily tasks. My bedroom is dimly lit and quiet as I’m sensitive to light and sound and too much of either can cause an adrenaline rush followed by a debilitating crash. Even too much of a conversation can cause me to crash so I have to carefully ration my energy, and my poor Mum barely gets much chat from me even in the rare “better” moments (which is probably just as well-my banter is shit these days!) Joking aside, I worry for my Mum as she has to watch my suffering knowing there’s little she can do, and she rarely leaves the house either as I can’t be left alone long, which leaves us both in an isolating and difficult situation with little help. When I am able to have a visitor or attend an appointment, these adrenaline rushes give me a temporary boost allowing me to last a short while and is why I can appear to function well at times. What isn’t seen is the aftermath when the adrenaline eventually wears off and the crash hits, leaving me feeling post concussed and sometimes unable to speak, eat or lift my head off the pillow-my body just goes into shutdown. That’s one of the reasons I’m rarely able to manage visitors, and I also have to prioritise trying to get better over anything else so appointments, physio etc have to come first. Even replying to a message is a struggle (this has taken months to compile) as it can be weeks of little energy or mental clarity through intense brain fog to be able to manage a reply. If I have managed to reply to you its probably used up a good chunk of my energy allowance for that day, and if I haven’t replied its because I lack in energy, not appreciation-I’m so grateful to everyone who has reached out and always try to reply when I can. Other simple things that can lead to a crash are; being upright, stress, sudden or loud noises, vibration (i.e. being in wheelchair, electric toothbrush) getting a fright/shock, crying, laughing, sunlight, weather/temperature changes, watching tv…the list goes on but these aren’t massive “activities” and were all things I completely took for granted before. Obviously these things can’t always be avoided, so a meticulous amount of planning goes into every aspect of life to prevent me deteriorating further (difficult to do with multiple fluctuating conditions!) and at times I unknowingly over do it only to face the consequences and physical setbacks afterwards. The repercussions can be endless from the smallest tasks most do without a second thought-any amount of physical or mental exertion can be extremely demanding and exhausting on my body requiring prolonged recovery, and it’s a constant internal struggle to choose between participating in life’s activities and preserving my limited energy for my overall health. I recently underwent a couple of surgeries at the same time due to risks of general anaesthesia and because of those, some complications and a traumatic episode shortly after surgery I have been set back quite a bit and I’m still trying to get back to my baseline. Add in a couple of dozen more daily symptoms and it’s a huge struggle just to try and make it through each day and too many times especially over the past few months I’ve been unsure that would even happen. I know I might look fine on the outside (I look bloody rough don’t get me wrong!) and I might not “look” ill, but the reality is things are in a pretty bad way. My life is currently the size of one room and I have to try and grieve the life I thought I would have whilst remaining hopeful for some sort of future. I know I’m more fortunate than some and there are others worse off than me, but I am desperate for a better quality of life than this. This snapshot only captures a fraction of what’s been going on but hopefully helps those who know me understand why I’ve had to disappear of the face of the earth and offers even those closest to me an insight into my small, horizontal world.

What’s Happened?

Over these past 7+ years I’ve had endless exhausting appointments for ongoing, worsening health issues that have overshadowed any slight improvements. After being discharged by my NHS Consultant in 2019 due to lack of knowledge or expertise on my conditions, the Pandemic then struck completely halting my care. Post COVID referrals led to long waitlists up-to 18 months, only to be met with medical professionals unfamiliar with my conditions and very little progress made with multiple physiotherapists due to their lack of understanding of my diagnosis’. Even recent admissions and ambulance calls haven’t known how to help me, leaving my in a very vulnerable and scary position. Years of seeking adequate medical care have led me down a frustrating path of disappointment and gaslighting leading to medical trauma-sadly all too common with these illnesses. Repeatedly I’ve been told the NHS lack the expertise for my complex situation and that I have to seek care with private consultants knowledgeable on my conditions. The help is out there, but not within the NHS-it’s private, and expensive. Thankfully I found a specialist in London; Dr Hakim, a leading global expert in Ehlers Danlos Syndrome, who oversees my care. I’ve had to go to London a few times for essential scans and tests but can’t fly due to my health, which means enduring exhausting 500+ mile car journeys each way, lying flat in the back. I save what I can for Skype appointments with him and whilst these offer some help, more regular and in person appointments are crucial as we try to manage the increase in symptoms and issues. Dr Hakim’s confidence in my potential for improvement is a lifeline and fuels my hope, but the costs are staggering. Living with chronic illness and disability is expensive, as anyone with complex or rare conditions will tell you. For example the specific scan required to monitor my spine, neck and Scoliosis issues isn’t available on the NHS and costs £1625. I did have private medical insurance but quickly found out it doesn’t cover genetic conditions so haven’t been able to utilise this. I haven’t been well enough to work since 2016, and my Mum had to give up her career to become my full-time carer in 2018 as I required help 24/7-which further impacted our financial situation. My family’s support has been immense in many ways including financially, but the ever growing medical costs aren’t sustainable and the longer my current horizontal situation goes on, the less chance I have of making any recovery at all. I’ve fought relentlessly, giving everything I have to try and get better, but now need a little extra help to get there. I don’t know how much improvement I’ll make and the road ahead is uncertain, but I’m determined there is more to this life for me than a life confined to a hospital bed. Time is slipping away so I’m reaching out for help to grab this window of opportunity and your support can be the turning point I desperately need. It’s all go, now or never…

What’s Next?

My focus now is prioritising specialised physiotherapy to help improve my mobility and continuing with essential private medical care. Any donations will play a crucial role in giving me the best shot at improving my quality of life. After extensive research I found a clinic in Arkansas, USA with some knowledge of some of my conditions, however the costs given were between $30-$48k, plus flights, accommodation and living expenses for 14 weeks. Despite being unable to fly and the costs being completely out of reach, a standard physio programme risks potentially making me worse. Thankfully there’s another option in Dr Hakim’s physiotherapists, at Central Health London, who are well-versed and knowledgeable on my conditions and have agreed to keep on my case. Skype sessions are helpful, but more frequent and intensive face to face physio is critical to help improve my mobility and build up my muscles to hold and support my unstable joints (due to EDS laxity)

So the plan now involves making periodic trips to London lasting around a week each time to receive hands on specialised 1-1 physiotherapy from these experts, as well as using their hydrotherapy pools equipped for someone with my low level of mobility. Regular Skype sessions in between will help me follow the comprehensive physio plan, and they’ll guide any community physio I see here. I’ll also be able to have face to face appointments with my Specialist whilst in London. These trips will completely exhaust me but I have no other option but to try, so they’ll need to be carefully planned in advance and spaced out to allow me to recover fully before the next one-with the first trip being planned for early next year. While there’s no fixed timeline or way of knowing how many London trips will be needed, this option should be much more feasible cost wise than the USA option. Rehabilitation comes with no guarantees or quick fix, but this team firmly believes that progress and improved mobility are achievable for me.

Any contributions will help fund these London trips covering specialised physiotherapy and rehabilitation, clinic costs, and fully accessible accommodation. Additionally your support will help ensure I can sustain private medical care and access the equipment, treatments and prescriptions required to aid the best chance of recovery.

Finally…

While a cure for my conditions isn’t known yet, I’m cautiously optimistic I can achieve improved health stability where my symptoms are at least more manageable. My hope is to be able to make it out of the house or even just out of bed more, and my main goal is being able to stand and hopefully walk again one day. I hope I’ll be able to have visitors more often without such intense payback-I’m not expecting miracles or to run marathons again. I just want a better quality of life and the chance to be able to participate in living to some extent, rather than just surviving. I know this is a lot of information but I wanted to explain my situation as best I could- and if you’ve read this far I’m truly grateful! If successful the road to any recovery will be a long, slow process, and would really appreciate you baring with us and awaiting any possible updates to be put on this page, or by my Mum and I-as we are so utterly exhausted and need to gather energy to try and navigate the next stage of this battle. I understand times are tough for so many at the moment, so don’t worry if you’re unable to donate-there is no pressure or expectation and even sharing this page would mean a lot. I never thought I’d be in this situation and asking for help to fund medical costs, but I am desperate.

Rock bottom has been a familiar place for too long and I humbly ask for your support and will be eternally grateful for any contribution you feel able to make.

With love and hope always,

Soph ❤️ Xxx

Older photos of the much healthier “old Sophie”

Awareness:

Ehlers Danlos Syndrome (EDS) is a genetic condition affecting the body’s collagen/connective tissue, which is present in skin, muscles, tendons, organs, eyes, arteries, joints, bones and more. Collagen is like the “glue” that holds the body together, but with EDS, its faulty. This leads to issues like joint instability, weakness and hypermobility, full & partial dislocations, gastroparesis & malabsorption issues, bladder & bowel dysfunction, spine & neck problems, fragile skin and teeth, joint, muscle & nerve pains, anaesthesia resistance, and potential artery and organ ruptures and complications plus much more. You can learn more about EDS if you’d like from Ehlers Danlos Support UK at: www.ehlers-danlos.org or

https://www.ehlers-danlos.com

Hyperadrenergic Postural Orthostatic Tachycardia Syndrome (PoTS): is a type of Dysautonomia, where the body’s automatic functions don’t work properly (heart rate, blood pressure, digestion, breathing, temperature regulation etc) When upright, my body misfires causing symptoms like rapid heart rate, chest pain, dizziness, blood pressure issues, stomach problems, migraines, brain fog, fatigue and loss of consciousness (syncope) to name a few, and this was triggered for me after Meningitis. My body’s often in fight or flight mode & I live a mainly horizontal life to try & keep my body stable (i.e. heart rate can go from 40bpm to 165bpm+ just sitting, and blood pressure from 90/60 to either 180/130 or 70/40-it’s one extreme to the other & both feel awful)

Mast Cell Activation Syndrome (MCAS) Affects cells in your immune system called mast cells-causing them to overreact to triggers like food, medications, stress, smells, temperature changes, chemicals and even the body’s own hormones. It’s like being allergic to a range of “non harmful” things, and causes a variety of symptoms from every system-including anything from itching, sneezing and rashes, to vomiting, weight loss, osteoporosis, seizures, fainting and anaphylaxis.

There is research currently going into the “EDS Trifecta or Triad”; trying to identify the faulty gene that causes EDS, PoTS & MCAS to occur together. These have also caused a host of other issues for me such as ME/CFS (Chronic Fatigue Syndrome) Gut Dysmotility, Aortic Regurgitation, Scoliosis and various other diagnosis’ and ongoing investigations, but it is mainly this “Trifecta” that is affecting my quality of life.

Thank you so much for taking the time to read this far xx