For this week’s article, we have the experience of a woman who suffers from an autoimmune disease and its complications.
What is Scleroderma and PAH
Scleroderma is a rare group of diseases that result in fibrosis (hardening and tightening) of the skin and inflammation. There are two main types: localised and systemic. Localised only affects the skin whereas systemic affects the skin, the blood vessels and internal organs. As a result, scleroderma is a life-threatening condition due to its complications. Some of the most severe complications of scleroderma is Pulmonary Arterial Hypertension (PAH), interstitial lung disease and scleroderma renal crisis1.
The woman sharing her story today had suffered throughout the years from all three. Yet today, she shares her story regarding the last complication that changed her life; PAH. PAH is a terminal disease that arises from thickening of the lung arteries. The damage makes blood hard to move through the lungs, and blood pressure goes up. That makes the heart work harder to pump blood at the right ventricle resulting in progressive heart failure. When a patient receives a diagnosis like this, it automatically changes their daily life forever.
The Patient Story
“All these years working as a nurse practitioner I had the chance to meet and treat patients with PAH. I was watching patients with heart failure and breathing problems, and I was begging to not have to go through that in my life. I hoped that I wouldn’t lose my breath. But life had other plans for me. Around 18 years ago, when I was only 36 years old, I was diagnosed with systemic scleroderma and for years I went through all sorts of complications. It showed me its rough face from the very beginning. And in 2022, I was diagnosed with severe scleroderma-induced PAH. And my life suddenly split in two; the one before PAH and the one after.
My whole life, I was active, happy, fully functional, going through shifts at work like it was nothing yet being there for my husband and kids while having a vivid social life. And within months I could not walk 100 m without losing my breath, I was feeling tired doing basic tasks and, in the end, I could not even take a shower or get dressed without feeling like I was suffocating. At the same time, it was difficult for me to accept what was happening even after I received the diagnosis.
So, I continued to push myself harder to continue doing the job I loved while taking care of my family. Until I couldn’t. At work, I couldn’t function properly and at the same time I had people that treated me with suspicion. They thought I was lazy although for more than 30 years as a nurse, I was devoted to helping others and working the hardest. And of course, even after the diagnosis there was no support from the hospital. But it wasn’t just the work environment. I live in a small town in Greece where people are totally unaware of what PAH is. They were constantly pointing out that it’s nothing, that it’s just high blood pressure and that by taking pills or losing weight I would be okay. But I knew it wouldn’t, and having to prove or justify or explain that to everyone it was mentally exhausting.
I knew what the prognosis for PAH is. Because of my job, I had way too much knowledge. More than I should have. I was convinced I would die. That I won’t be there to enjoy my kids, my family, my life. I was only 51 years old, and I was watching myself lose my old self. But my willingness to live kept me going. I followed my doctors’ instructions. But even that wasn’t enough. Another change in my life was waiting for me at the corner. Treatment with pills was ineffective and I had to receive 24 h intravenous infusion of prostacyclin treatment. Doctors explained to me all the adverse reactions and how my life will change based on my decision, but they also highlighted the benefits. And there I had another life-changing decision to make.
I knew that after that nothing will be the same, but I really wanted to get better. I spoke with doctors, with patients that received this type of treatment, and everyone was telling me how great results they got. So, although I didn’t really want to and I wasn’t really hopeful, I did it with the hope that I will finally get better.
And another struggle was ahead of me. I didn’t know then that this treatment would indeed change my life for the best. The first days, the side effects were awful. Constant headaches, vomiting, dizziness, diarrhoea, low fever, feeling cold even during the Greek summer, swollen face. I was waking up every day looking at the mirror and seeing a deformed face. At the same time, I couldn’t be independent anymore. People with this kind of treatment require a permanent carer 24/7. Someone who will help with preparing the drug, changing the infusion, operating the machine all in certain times of the day. You can’t spend a day without your carer and without having a schedule anymore. At the same time, because of the increased blood flow, this drug gives you a red-coloured skin like a tanning-gone-wrong. I was feeling sick all day while I wasn’t. Even my doctor could not believe that I had all the side effects this drug has. At the same time, I had everyone and everywhere staring at me. Even if I wanted to, I wasn’t invisible. Everybody was staring at me, wondering what could be wrong with me. You enter a room and you can see heads turning towards you.
I was lucky enough to have my husband as my main carer that constantly was there for me to support me. And the side effects started getting better. And all these with one goal; to take a breath. And I finally took it. And the results were great. My doctor could not believe how good the results were. And that gave me strength to continue. I will never forget one month after I started the treatment that I walked 100 m without losing my breath, that a couple of months later I went to a party and I was dancing with my little machine in hand for 30 minutes without needing renal oxygen afterwards.
I don’t think I can ever forget what I went through but, I can choose to keep going. I know I will have good days and bad days with this disease but at least I will breathe, and I can continue hoping that a better treatment or even a cure will be found.”
The Family Perspective
If you reached the end of the story, I am going to share my side of it. This woman is my mother, and she wrote this as her speech for the last Greek PAH Conference.
I am an Immunologist, so I have knowledge I also wish I hadn’t. And when something happens to a person you love, I am not sure if knowledge is at your advantage. You are with doctors and researchers all day, yet you can’t cure your person. A new symptom or complication appears and you’re playing Dr. House by yourself trying to understand what could be wrong this time. When my mother was diagnosed, I was only 10-11 years old. I don’t even remember exactly. I just remember my mom’s hands turning blue and ulcerated as a symptom of scleroderma. But growing up, I started realising that my mom was not the same person anymore. The disease was changing her life in a bad way and with hers our family’s too. And I ended up with two lives too: one before she got worse due to scleroderma and one after. And I often felt like I ‘grieve’ for a person who is not dead, and for the everyday life with that person too. Because you can’t do the things you did before with the same spontaneity and the family’s life circles around a disease, hospitals and doctors. And to my eyes, she ‘grew old’ so suddenly and so brutally, way before it was the time to do so.
I see her struggling every day. I had to learn to accept that this will be her life from now on, and appreciate the time that a chronic condition gives you while dealing with guilt for living abroad to chase my own goals and dreams. I often feel that I live with a constant fear at the back of my head, that the countdown has already started and I don’t know how much time I have left with her. But at the end of the day, who knows?
And then, I am thinking I have another parent, who is her full-time carer and I worry about him too. Because you pay so much attention to the person with the disease that you forget that the other grows old too and he is getting tired physically and emotionally as all the burden has fallen onto him. And you have to balance all these and be there for both of them.
Such diseases are an emotional roller coaster for the whole family. The worst moments are during the bad periods, the flare-ups, the complications. But in good periods, life goes by, and maybe you forget or rather press down the fear, with the hope that this good period will last for years this time. And it may do. Again, who knows?
My struggles do not compare to hers nor my father’s. She struggles physically and emotionally and yet she shows patience and perseverance. I am proud of her, because every single day the past 18 years has been a different battle for her. I cannot speak for the rest of my family as everyone is dealing with something like that in a different way. But this is a small example of how a disease affects the whole family, something that we barely talk about.
The Science Perspective
Women are disproportionately affected by autoimmune diseases, with incidence consistently higher in women than in men (80% of the patients are women)2. This disparity is thought to arise from interactions between genetic susceptibility, immune-regulation pathways, and hormonal influences that contribute to immune cell over-stimulation and loss of inflammation control. In several autoimmune conditions, impaired deactivation of inflammatory signals results in persistent immune stimulation and, in diseases like scleroderma, dysregulated fibrotic responses3,4.
Emerging evidence also shows that chronic stress can contribute to immune dysregulation. Sustained upregulation of cortisol can reduce immune-cell sensitivity to glucocorticoid signalling, weakening mechanisms that normally suppress excessive inflammation. Chronic stress is not a primary cause of autoimmune disease; however, it is recognised as a factor that can intensify symptoms, influence disease activity, and exacerbate overall disease burden5–7.
Research is thriving and more and more therapeutics reach the clinic. However, the holistic healthcare approach is often missed in many healthcare systems. In the UK, data show that psychological symptoms in autoimmune conditions are both widespread and significantly under-recognised. Research from the University of Cambridge and King’s College London found that more than half of patients with systemic autoimmune rheumatic diseases report depression or anxiety, yet the majority are rarely or never asked about mental health symptoms in the clinic. Clinicians were often unaware of the full range of psychological and cognitive symptoms their patients experienced, and very few hospitals had systems where rheumatologists, neurologists, and psychiatrists work together to manage these needs8.
Although NHS England is expanding integrated community mental health services, including access to psychological therapies and personalised care, these services are general and not routinely embedded within autoimmune or rare-disease pathways. The NHS Long Term Plan aims to improve access to community mental health care, but specialist autoimmune clinics do not yet consistently incorporate structured psychological assessment or referral routes as part of routine care.
Charitable organisations help fill some of these gaps. For example, The Wren Project is a UK charity providing free emotional support specifically for people with autoimmune disease, reflecting the lack of disease-specific mental health provision within mainstream services9. This indicates a clear unmet need for structured, clinically integrated psychological support for patients with autoimmune diseases.
Given the strong link between chronic disease burden and psychological wellbeing, there is a clear opportunity to strengthen UK care pathways. A more integrated approach could include:
- Routine psychological assessment within specialist autoimmune clinics
- Clear referral pathways to NHS mental health services for patients with chronic inflammatory diseases
- Access to group-based or peer-supported programmes within rare-disease networks
- Occupational health support to help patients remain in appropriate employment
- National guidance on incorporating psychological support into autoimmune care
Embedding these elements to the therapeutic approach would ensure that patients receive care that reflects both the biological and psychosocial dimensions of autoimmune disease, supporting better outcomes and more equitable long-term management.
References
1. Scleroderma Complications and Treatments | Scleroderma Research Foundation. https://srfcure.org/living-with-scleroderma/resources/complications-and-treatments/.
2. Angum, F., Khan, T., Kaler, J., Siddiqui, L. & Hussain, A. The Prevalence of Autoimmune Disorders in Women: A Narrative Review. Cureus 12, e8094 (2020).
3. Kumar, M., Yip, L., Wang, F., Marty, S. E. & Fathman, C. G. Autoimmune disease: genetic susceptibility, environmental triggers, and immune dysregulation. Where can we develop therapies? Front. Immunol. 16, 1626082 (2025).
4. Desai, M. K. & Brinton, R. D. Autoimmune Disease in Women: Endocrine Transition and Risk Across the Lifespan. Front. Endocrinol. (Lausanne). 10, 265 (2019).
5. Alotiby, A. Immunology of Stress: A Review Article. J. Clin. Med. 13, 6394 (2024).
6. Nunez, S. G., Rabelo, S. P., Subotic, N., Caruso, J. W. & Knezevic, N. N. Chronic Stress and Autoimmunity: The Role of HPA Axis and Cortisol Dysregulation. Int. J. Mol. Sci. 26, 9994 (2025).
7. Xu, J., Wang, B. & Ao, H. Corticosterone effects induced by stress and immunity and inflammation: mechanisms of communication. Front. Endocrinol. (Lausanne). 16, 1448750 (2025).
8. Sloan, M. et al. Prevalence and identification of neuropsychiatric symptoms in systemic autoimmune rheumatic diseases: an international mixed methods study. Rheumatology 63, 1259–1272 (2024).
9. The Wren Project. https://www.wrenproject.org/.