In a flawless healthcare system, your patient journey would seamlessly flow from diagnosis to treatment to cure, all within a short timeframe and with care provided by one dedicated team, locally to your home. The reality for many, however, is very different, due to an overstretched healthcare system, and the unpredictable and sometimes hard to diagnose nature of many skin disorders. What we hear time and again from people with skin diseases is that persistence is key: in seeking referral to a dermatologist, in trialling different treatments to find one that works, in waiting the required number of months for the treatment to start taking effect. In this section, people who have experienced very different patient journeys share their stories.
Marian's Patient Journey
Marian has Stevens-Johnson Syndrome which, in its most severe form, is also known as toxic epidermal necrolysis (TEN). In this video, she explains how she suffered a rare, severe drug reaction, which required her to be placed in an induced coma, and how she has used her story to inform people.
Myra’s Patient Journey
Myra has epidermolysis bullosa (EB), a skin condition which causes skin fragility and blistering. In this video she tells her story, explaining what she’s learnt about living with EB, the importance of a good support network, and the care she has received from the NHS.
Russ’ Patient Journey
Russ has psoriasis and psoriatic arthritis. In this video he explains how he has learnt not to let his conditions define him, how he strives to enjoy his favourite activities in spite of his pain, and how his trial-and-error approach to treatments finally led to the right one for him.
Ann’s Patient Journey
Ann has been diagnosed with several skin cancers. This video is Ann telling her story about her experience with skin cancer, her regrets over her former sun-seeking lifestyle, and how she has accessed care on the NHS.
Fabia’s Patient Journey
Fabia has lichen sclerosus, a skin condition which causes skin itching, fragility and paleness of the vulva. In this video she talks about the impact of lichen sclerosus on aspects of her everyday life, and her efforts to ensure she was seen by the right specialist team.
Grace’s Patient Journey
Grace has a skin condition called ichthyosis erythroderma which causes thickening, scaling and drying of the skin. In this interview she explains the importance of her good relationship with her dermatology team, and what she has learnt from living with a skin disorder.
George’s Patient Journey
Pemphigus vulgaris is a rare autoimmune skin disease which causes severe blistering of the skin. Blisters develop in the upper layer of the skin and have a thin and fragile outer surface that breaks away easily leaving raw areas that can be extensive and painful.
The first sign of my pemphigus was innocuous, a sore throat that arrived in March 2011. After two weeks there was no sign of it clearing up, so I visited my GP. After three trips to the GP, a course of antibiotics, and the appearance of blisters in my throat and mouth, it became clear that this was beyond the scope of a General Practitioner, I needed to see a specialist.
Perhaps understandably given my symptoms, my first appointment was scheduled to be with an Ear, Nose, and Throat (ENT) specialist. However, my GP did some further research, and felt that a dermatologist was actually more appropriate. At this point I decided to arrange this appointment privately as I was anxious to get answers quickly and resolve the issue. My first specialist appointment involved a very thorough examination, by which stage the dermatologist suspected pemphigus. He took a biopsy from one of the lesions on my neck to confirm this. The report came back positive, I finally had my diagnosis.
By mid-May, I had lesions all over my face, torso, nose and throat. Swallowing became very difficult and day-to-day life generally uncomfortable. My care was now taken over by another dermatologist, whom I cannot praise enough. My treatment began with an anti-rejection drug, and large doses of steroid medication – up to 50mgs daily. The steroid medication was gradually reduced over time but failed to get on top of the condition.
A particularly nasty development was a fungus growing in one of the lesions on my face. After three biopsies this was identified as Paecilomyces lilacinus. This was treated, among other things, with a powerful antifungal medication. The pemphigus reacted badly to this treatment, having a major flare up. Painful lesions and blisters erupted all over my body. I then developed an infection in my hand, which was temporarily relived with antibiotics. Two weeks later, the infection reappeared in my elbow. This cycle repeated again with the infection reappearing in my foot another two weeks later.
It was at this point, May 2014, I was hospitalised and given intra-venous antibiotics as well as various other medications. My dermatologist organised a series of Rituximab infusions at the local hospital, the timing of these were apparently critical. The effect this treatment had on my pemphigus was quite dramatic. Over the next 15 months, my steroid medication was gradually reduced to zero, with the exception of when the time between doses of Rituximab was too long.
Over the years, I was prescribed many drugs other than the ones I have mentioned to counter the steroids and ease day-to-day discomfort, with varying success. Some treatments for the soreness of my mouth were particularly unpleasant. At some stage throughout my treatment, I also developed an allergy to penicillin, which added further complication to my drug regime. The most notable side-effects I experienced were mood changes. According to my long-suffering wife I became irritable, bad tempered, intolerant and unappreciative. As well as this, I experienced collateral damage to my teeth. These side-effects subsided once I stopped steroid treatment. Due to the difficulties of eating, caused by the sores in my mouth and throat, I lost almost three stone during the first three years of my treatment.
I have had no pemphigus antibodies since 2016, five years on from my initial diagnosis. Now, seven years on from my pemphigus diagnosis, I only take Methotrexate for seronegative arthritis. I am extremely grateful to my dermatologist for the care I received throughout and for identifying this rare condition and getting treatment underway and the care I received from all other hospital staff was also excellent.
Nicola's Patient Journey
Systemic sclerosis, also known as scleroderma, is a multi-system autoimmune, rare disease, characterised by structural abnormalities of small blood vessels, fibrosis of skin and internal organs, and production of auto antibodies. I also have Raynaud’s phenomena causing my blood vessels to contract, cutting off my circulation, giving me blue fingers and toes.
There is currently no cure with treatments targeting symptom suppression. Understanding as to the cause, is slowly improving. During the autumn of 1997, aged 24, my fingers became very stiff and swollen with shiny tight skin. This was accompanied by joint and muscle pain, constant lethargy and tiredness and difficulty opening my mouth. A specialised blood test confirmed that I had the relevant specific antibody which determines scleroderma.
The skin covering my entire body and face became extremely tight, itchy and painful. I was unable to stretch my arms or legs due to the tightness. In addition, my fingers and toes turned blue at the slightest temperature change and I felt cold all the time. I was also struggling to swallow.
My diagnosing Doctor (local Rheumatologist) gave me a 15month prognosis, due to my aggressive symptoms. I underwent lung function tests, gastro-intestinal tests, as well as, heart monitoring tests, to assess the internal organ damage. In December 1998 I attended the Scleroderma Unit at The Royal Free Hospital, London, UK. I am eternally grateful for their superhuman medical expertise and care. The following 18months were critical, as I was taking various chemotherapy infusions, in the hope to stop the disease hijacking my body.
At that time, I was working in the pharmaceutical industry whilst studying part time for a postgraduate diploma in law. My final goal being, to become a barrister, a ‘Learned Friend’. I was forced to postpone my studies during the time of having the chemotherapy drips. The side effects of nausea and exhaustion were extremely disabling. Fortunately for me, my body responded to this final treatment option available before needing to resort to a stem cell transplant.
In 2004, I qualified as a self-employed barrister. I ceased the daily 2g immunosuppressant regime of the previous five years. Unfortunately, this caused a relapse in my symptoms. I was forced to give up my 60-hour a week dream job, to sell my house and to relocate to my family home town. Due to the diagnosis being systemic, every part of my body is affected in some way. My skin, neuro-musculoskeletal system and gastrointestinal tract have taken the biggest hit. I have a daily routine in place to manage these symptoms. This includes a strict diet in an attempt to minimise my gastrointestinal symptoms.
I am elated to be 15 years immunosuppressant free. I start each day by bathing my skin in liquid paraffin and then moisturising with a thick emollient. In November 2016, I was delighted to hear that, ‘my skin is cured from scleroderma’.
Because of my scleroderma, I also live with Raynaud’s disease. I take tablets to open my blood vessels, which has helped reduce the number of finger ulcers I get, caused by my poor circulation. However, I am very much under ‘house arrest’ in an attempt to prevent the attacks. I wear gloves and Ugg boots all year round. Prevention is better than cure, as there is currently, no cure. The attacks are extremely painful and energy depleting.
For best patient care, the following are essential: Early diagnosis, Expert Specialist Centers, Access to Innovative Medicines, Co-ordinated Multidisciplinary Medical ‘Dream Team’.
Living with an invisible illness and rare disease where the cause and cure remain unknown, is most daunting in every way imaginable. I am eternally grateful to my medical ‘dream team’. I consider myself to be a very lucky scleroderma patient, for I have minimal internal damage, and lucky in that, I continue to survive.
Albeit, my full-time job is managing my symptoms. I am delighted to have become a patient expert advocate with various NHS England, NIHR and Rare Disease groups. In 2016, I set up www.raynaudsscleroderma.blogspot.com. #SclerodermaFreeWorld #RaynaudsFreeWorld Investment in medical research is desperately needed to eliminate this very cruel, debilitating, and life changing disease.
Paul's Patient Journey
Pemphigus vulgaris is a rare and serious autoimmune skin condition that causes painful blisters to develop on the skin and lining of the mouth, nose, throat and genitals. These blisters are prone to bursting open due to their fragility, leaving areas of raw unhealed skin that can be very painful and can pose a significant risk of infection.
Around 23 years ago, the first signs of my pemphigus began to show. This took the form of small blisters which left painful burn-like lesions on my head and around my waist. These areas wept excessively and showed no sign of healing, so I arranged to see my GP. I was immediately referred to the local dermatology department at Winchester hospital. A biopsy was taken, and the result came back as pemphigoid.
I was put on extremely high doses of steroids, causing my finger and toe nails to fall off. Despite the steroids, my condition continued to worsen, and I was hospitalised. It became clear that my condition required specialist care. I requested a referral to a Centre of Excellence. This was granted, and I was seen by a dermatologist at Southampton Hospital, who worked tirelessly to improve my condition. Another biopsy was taken now, the result confirming that I had pemphigus.
Several treatments were tried to get my condition under control, including high levels of steroids, immunosuppressants and immunoglobulin therapy. None of which were successful. Eventually, all of the known treatments for pemphigus had been tried on me with no success, apart from therapeutic plasma exchange.
Plasma exchange therapy was soon tried on me, the aim being to remove the pemphigus antibodies. However, it soon became apparent I was not suitable for this treatment as my condition was too severe, causing the machine to become blocked with pemphigus antibodies.
An oncologist noted that rogue B cells were responsible for my condition. They suggested a new drug called rituximab, which had originally been developed to treat B lymphocyte lymphoma. In other patients, a side-effect was that B cells were no longer present in the blood following treatment. Based on this, my dermatologist quickly decided to try rituximab treatment on me. It wasn’t long until the results of this therapy became apparent and the dermis began normal recovery with no additional treatment.
It was a huge relief to finally have an effective therapy. Before rituximab therapy, living with pemphigus was extremely difficult on a day-to-day basis. Sleeping became near impossible due to the huge amount of pain which came from putting any pressure on the sores. For two years I tried to sleep in an armchair, however this and strong analgesics still only provided limited relief. Along with the sleep deprivation came depression, I never slept for more than eight fragmented hours in a day.
Socially, I am unable to plan in advance, as my condition may have a flare-up at any time without warning. In these instances, travelling on public transport has become very difficult, as my open sores can weep fluid which has a strong odour. My bedding and clothes have to be regularly disposed of as they become too blood-stained to be laundered and I have to be careful with hot temperatures and irritating chemicals such as perfumed shower products.
In later years, I had to have surgery on my knee. Despite warning them of my pemphigus, I ended up having five operations on my knee as the pemphigus antibodies attacked the new knee implant. Although I had problems with my other knee, I refused surgery on it based on the previous complications I encountered.
My condition is very susceptible to secondary infection, which can be hard to treat, so I have to be very mindful of this. In conclusion, the life I live with pemphigus is that of managing my condition as best I can, until I am able to receive a dose of rituximab. This treatment positively affects every part of my body, from head to toe.