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  • Writer's pictureChristie Roberts

Rare Disease Day

Rare Disease Day is marked on February 29th- a rare day! (in non-leap years, it gets moved to Feb 28th). A rare disease is defined differently across the world- in the US, it classed as rare if it affects fewer than 60 per 100,000 (Rare Diseases Act, 2002). The EU and UK considers it rare at 50 per 100,000 (European Union, 2000; DHSC, 2021), and WHO has gone for 65 per 100,000 (Abozaid et al., 2022). It's not clear how these point prevalences are calculated or quantified, but regardless- it's low prevalence. The ICD-11 lists over 5500 rare diseases (WHO, 2024), and 70-80% of rare diseases are thought to be genetic in nature (Wakap et al., 2020; DHSC, 2021).


My only experiences with rare diseases is from trying (and failing miserably) to recruit patients into clinical trials for PSC and PBC. Hard to recruit for a rare disease because the prevalence is so low, and even harder when the trials have such narrow inclusion criteria! So, I've enlisted the help of my good friend Tilly to share her lived experience. Tilly is such a fighter, dealing with numerous complex conditions with so much strength and grace. I'm endlessly impressed with her tenacity, and I'm delighted that she's agreed to share her story. You can see more from Tilly on her instagram (@tillys.journey). Without further ado...





Tilly's Story

My name is Tilly and I’m a mature third year student nurse studying Adult Nursing. I’m also a full-time patient living with a number of chronic and complex health conditions including Type 1 Diabetes (T1D), Ehlers Danlos Syndrome (EDS), endometriosis, and various comorbidities of T1D and EDS. These conditions have led me to have to withdraw from my course twice - first due to a protracted hospital admission that ultimately provided no answers, and more recently for a succession of colorectal and gastrointestinal surgeries as a result of the diagnoses missed during the first admission. My teams, usually in a well meaning way, ask if I’m going to give up my degree, but I’m determined to return and finally qualify! 





I left a career in diabetes medical technology to go back to university for the second time to become a nurse primarily because I wanted to help other people living with T1D, and because the wonderful nurses I worked with made such a big difference to this patient population. 


When it comes to my health, I’m often told I’m “the most complex patient” by my various teams as if it’s a badge of honour - or sometimes an excuse for not having answers - but the silver lining is that it’s made me an expert by experience in multiple conditions. 

Managing my care is the definition of multidisciplinary, but with the NHS’s less than joined-up approach to complex patients, I often feel like a PA to both my body and my various medical teams. Even during a hospital admission, I’m often the one emailing my other teams with updates on the plan, and their role in it. During a recent admission, I was even added to the distribution list for a special MDT about a new, challenging aspect of my care.


I live with brittle or unstable T1D which causes recurrent episodes of diabetic ketoacidosis (DKAs), impaired hypo awareness, and a history of hypoglycaemic seizures. I dislike the term ‘brittle’ and the connotations of neglect and mismanagement. On paper, I have excellent management in terms of my HbA1C and Time in Range, but these numbers don’t show the almost monthly DKAs and erratic swings in my blood glucose levels. I put an unhealthy amount of effort into managing my diabetes, but unfortunately, that effort doesn’t necessarily translate to not developing complications. I also have a relatively short duration of disease of seven years, having been diagnosed in my early twenties. 

I have a number of conditions which could be a complications of T1D including gastroparesis which has led to enteral feeding with a PEG-J; GI dysmolity which has led to an ileostomy and soon a panprocotocolectomy; and small fibre neuropathy. However, these could also be caused by EDS, or, the current consensus of my teams - they’re multifactorial. 


I was only officially diagnosed with Ehlers Danlos Syndrome (EDS) recently by Rheumatology, but I’ve had numerous unofficial diagnoses from anaesthetists, orthopaedists, and more. The Ehlers Danlos Syndromes are a group of 13 connective tissue disorders that affect collagen, which is everywhere, hence the multi systemic comorbidities. The most common type, hypermobile EDS or hEDS, is technically rare but is often under diagnosed or misdiagnosed as EDS presents in myriad ways. During my Rheumatology consultation, several other diagnoses were made or investigations were ordered to ascertain diagnoses. I’m awaiting genetic testing to determine the type of EDS I have as I have some features of rarer types, and have a family history of both EDS and Marfan Syndrome, another connective tissue disorder. The rarer types are very rare ranging from 1 in 20,000 to less than 1 in a million people affected. 


The UK Rare Diseases Framework (DHSC, 2021) defines a rare disease as one that affects fewer than 1 in 2000 people. Whilst the diseases themselves are rare, 1 in 17 of us will be affected by a rare disease at some point during our lives - which amounts to 3.5 million people in the UK. 

The rare disease I live with is gastroparesis, which affects 14 in every 100,000 people in the UK (Guts UK, 2023). There are various degrees of delayed gastric emptying, which is itself a separate, more common diagnosis, but gastroparesis is the most severe form and means stomach paralysis. When the stomach cannot empty, it can cause a variety of symptoms including nausea and vomiting, bloating, epigastric pain, early satiety, and more. My symptoms were intractable nausea and vomiting, and early satiety. I was diagnosed after two positive gastric emptying scans about a year apart. Diabetes is the most common cause of gastroparesis affecting 13 out of every 1000 people with diabetes, more commonly type 1 diabetes (Guts UK, 2023). It can also have a neurological, surgical, or idiopathic cause. There is no proven link with EDS but there does seem to be some overlap with idiopathic cases of gastroparesis. 


My gastroparesis led to repeated episodes of DKA caused by vomiting, and dozens of hospital admissions. Given that it was refractory to all medications, I was eventually left with no choice but begin enteral feeding into my jejunum to bypass by stomach. At this point, I already had an insulin pump, CGM (continuous glucose monitor), and an ileostomy, so it meant adding a fourth medical device to my already overcrowded body. It’s hard to feel that you have much autonomy over your body or health when so many things are attached to essentially keep you alive. 


It also requires a tremendous amount of admin. I have to order supplies from four different companies, five if you count regular medications from my GP. There are so many things that can go wrong. Over Christmas, my stoma supply company forgot to place my order and I had to come to hospital over Christmas to get an emergency supply of stoma bags. I have become allergic to products that have previously worked because of MCAS (mast cell activation syndrome)- this happened with an insulin pump adhesive, and I had to be switched to another one after just a few months. And naturally none of the deliveries arrive together, and I have to store all of this stuff somewhere too! 

But living with so many conditions has some hidden benefits too. I think it’s made me more compassionate. It’s definitely helped out with anatomy and physiology exams. It’s taught me how to advocate for myself and spot mistakes before they cause me harm. It’s helped me prioritise my relationships, career, and life choices in general. When I’m not an inpatient or attending several outpatient medical appointments each week, I live my life with purpose. I know I may well be back in hospital before too long, so I make the most of being at home. I sit on the sofa with my husband and rewatch The Office for the millionth time. I make plans with friends whose company I relish. I go out for a bougie coffee and a walk in the park. All the things I miss when I’m attached to various IVs and sat with a view (if I’m lucky) of grey walls and no concept of the weather. 




Tilly- thank you so much for sharing your story. I hope that it has been helpful for people, and maybe helps others juggling complex comorbidities feel that they aren't alone, and that there are silver linings in amongst the clouds!



P.S- the zebras are a reference to something commonly taught to medical students- 'when you hear hoofbeats, think horses, not zebras'. In essence, the common diagnosis is usually the right diagnosis... however, there's a lot of zebras in the world of rare diseases, so don't forget that zebras DO exist when considering diagnoses!



Lots of love,

Christie x


References:

Rare Diseases Act (2002) Rare Diseases Act of 2002. Available at: https://www.congress.gov/107/plaws/publ280/PLAW-107publ280.pdf (Accessed 23 Feb 2024)

European Union (2000) Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products. Available at: https://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:L:2000:018:0001:0005:EN:PDF (Accessed 23 Feb 2024)

DHSC (2021) The UK Rare Diseases framework. Available at: https://www.gov.uk/government/publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework (Accessed 23 Feb 2024)

Abozaid, G. et al. (2022) 'Criteria to define rare diseases and orphan drugs: a systematic review protocol' in BMJ Open. 12(7).

WHO (2024) Rare diseases. Available at: https://www.who.int/standards/classifications/frequently-asked-questions/rare-diseases (Accessed 23 Feb 2024)

Wakap, S. et al. (2020) 'Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database' in European Journal of Human Genetics. 28, pp.165-173

Guts UK (2023) Gastroparesis. Available at: https://gutscharity.org.uk/advice-and-information/conditions/gastroparesis/ (Accessed 23 Feb 2024)


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