Navigating a Rare Diagnosis: Sources of Information and the Medical Professional’s Role

The unique bond shared by twins is a source of fascination to many but imagine how much more profound this bond would be if being a twin was the very thing that saved your life. This is the reality for an eight-year-old girl called Ellie, who lives with a rare genetic disease called cystinosis.
Navigating a Rare Diagnosis: Sources of Information and the Medical Professional’s Role

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The unique and intense bond shared by twins is a source of fascination to many but imagine how much more profound this bond would be if being a twin was the very thing that saved your life. This is the reality for an eight-year-old girl called Ellie, who lives with a rare genetic disease called cystinosis, and the presence of her twin played a crucial role in her diagnosis.

In 2016, just before Ellie’s first birthday, her mother, Kat, noticed Ellie had developed a rash and so took her to the general practitioner (GP) to be examined. On a prior occasion, Kat had taken Ellie to the GP to discuss her observation that Ellie was drinking significantly more fluids than her twin sister, Molly, and was noticeably smaller in size. While Kat understood that as non-identical twins, they might show some physical differences, the disparities she observed seemed to exceed the typical variation. With Ellie’s rash necessitating a hospital referral, Kat used the opportunity to discuss her daughter’s excessive drinking once again with a medical professional before her original follow-up appointment. Given the family’s history of type 1 diabetes, the doctors performed a urine test on Ellie. However, despite the test results returning negative for sugar, effectively ruling out diabetes (1), they did reveal an unexpected presence of protein. This finding prompted a specialist referral to determine the cause of Ellie’s symptoms. 

Will, Ellie’s grandfather, describes Ellie’s diagnosis as one of luck, attributing this to the fact that she was identified thanks to the contrast in features with her twin sister and her developing a rash that necessitated medical attention. This created an opportunity to re-address her excessive thirst. Additionally, her luck extended to her meeting a doctor who had knowledge of cystinosis early in her diagnostic journey. This doctor recommended conducting the gold standard test for cystinosis, which involves analysing the level of cystine in white blood cells, to which Ellie’s result was diagnostic (2). Cystinosis results from a mutation in the CTNS gene which codes for a carrier protein called cystinosin. When this protein becomes dysfunctional, cystine accumulates within the lysosomal compartment of cells (3). The condition has a prevalence of approximately 1 in 150,000 to 1 in 200,000 live births (4). According to the UK Rare Diseases Framework, a rare disease is defined as affecting less than 1 in 2,000 individuals, placing cystinosis among the rarest conditions (5). Cystinosis primarily affects the kidneys and so children present with excessive thirst, as in Ellie’s case, but also frequent urination, and dehydration. As the disease progresses, it affects other organs, including the eyes, thyroid, muscles, and pancreas (3). 

This essay will explore how Kat, Will and Ellie herself turned to various sources of information to make sense of Ellie’s rare diagnosis and the role that medical professionals can play in helping patients understand their condition.

Kat’s perspective

For Kat, the online world provided comfort during the confusing and overwhelming period following Ellie’s initial diagnosis. She sought out Facebook support groups created for parents of children with cystinosis. She quickly connected with a mother from Canada whose daughter was a similar age to Ellie and had been diagnosed just a few months earlier. Their stories paralleled in many ways and Kat’s new friend became a valuable source of information concerning all things cystinosis and motherhood. A 2020 study documented that approximately 6,000 Facebook support groups exist for rare childhood diseases and these groups represent over 800 diseases (6). One unexpected benefit for Kat of her newfound connection was the assurance that during late-night moments of anxiety concerning her daughter’s health, she could always reach out to her friend, knowing that the time zone difference meant she would be awake. The online world afforded Kat something no other information source could offer- genuine human connection. The ability to exchange emotional experiences with someone going through the same ordeal brought her reassurance. Moreover, her chosen source of knowledge didn’t confine her to brief fifteen-minute consultations or ‘9-5’ opening hours, which a GP provides (7). With roughly 3 billion monthly active users on Facebook, it’s no wonder that the social media platform facilitated Kat in finding someone else affected by such a rare condition with ease (8).

However, Kat recognises that there are limitations to social media for health information including the potential for disinformation (9). Therefore, she is cautious and stays clear of individuals online who spread false or incomplete information. Unfortunately, she has encountered a few individuals who attempt to micromanage others. She finds this frustrating because since cystinosis affects each patient so differently, parents become experts in determining what works best for their child (10). Nonetheless, Kat has found the online cystinosis community to be generally supportive and a dependable source of information when it comes to practical aspects of the condition. Even minor concerns, such as determining which brand of nappies is the most absorbent, to minimise the frequency of changes due to excessive urine production associated with the condition, can be raised on these Facebook groups. While such questions do not warrant medical input, the advice received through these groups has made life with cystinosis easier for Kat and Ellie.

Will’s perspective

For Will, charity websites are one of the most valuable information sources for understanding a rare condition because they present information in a way that’s easy to understand but still medically accurate. When Ellie received her diagnosis, Will turned to the Cystinosis Foundation UK (CFUK) website to educate himself about the condition. He liked that the website didn’t focus on morbidly and mortality statistics. While he acknowledges the importance of knowing how a condition can eventually affect the child in every aspect, he believes that an over-emphasis on negative statistics can be distressing for family members coping with a new diagnosis. Indeed, it has been documented that negative illness perceptions, which can be precipitated by distressing online information, are associated with a worse quality of life (11).  In 2020 Will became a member of the board of trustees of the CFUK (12). He participates in national and international conferences to educate medical professionals about cystinosis. This educational effort is of utmost importance as it can lead to earlier identification of children with cystinosis if healthcare staff are more knowledgeable about the signs to look for (13). In 2021/22, 55% of people in England had volunteered with a charity at least once in the previous year, most being driven by wanting to “improve things” or “help people” (14, 15). Charities often place a strong emphasis on forthcoming treatments. However, these treatments may not become available for several years, potentially distorting a patient’s perception of the future management of their condition (16).

Ellie’s perspective

For Ellie, as a child with a rare condition, she relies primarily on her mother and her own lived experience of cystinosis for information and understanding. Diagnosed at a very young age, she can’t remember a life without cystinosis and hasn’t yet reached a stage where she has deeply considered the “how” and “why” of her condition. However, her family anticipate that it will not be long before questions such as “Why can’t I be the same as Molly?” arise as she becomes aware of the details of her condition and how it may affect her in the future. A 2022 study of 1231 patients and 564 carers impacted by a rare disease found that over 90% of respondents report feeling anxious, depressed, or stressed because of their condition and 36% of patients had even experienced suicidal thoughts (17). Being the only person in her family with the condition, Ellie lacks personal contacts to turn to for guidance on living with this diagnosis, which presents a unique challenge she will face in the future.


Traditionally, doctors have served as the primary source of medical knowledge for patients seeking information about their conditions. However, the widespread use of the internet for accessing health-related information, with approximately two-thirds of patients consulting “Dr Google” before booking a medical appointment, underscores the need for doctors to adapt their approach to accommodate the evolving patient-doctor relationship (18). Additionally, research indicates that around 40-80% of the information provided by healthcare professionals during consultations is immediately forgotten (19). Therefore, one of the most critical actions a doctor can take is to direct rare disease patients to resources that can be accessed after the consultation, thus enhancing their retention, and understanding of information. This approach recognises the inevitable reliance on the internet for information while ensuring patients are directed to trustworthy online resources (20). This is particularly important for understanding rare diseases, which are often multisystem and complex. The role that doctors play as a knowledge source for rare disease patients varies due to the impracticality of doctors being well-versed in the details of over 7,000 rare diseases (5). However, Ellie’s story highlights the need for continual learning by doctors, alongside their patients, to better support patients with a rare diagnosis.


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Life Sciences > Health Sciences > Clinical Medicine > Diagnosis
Endocrine System and Metabolic Diseases
Life Sciences > Health Sciences > Clinical Medicine > Endocrinology > Endocrine System and Metabolic Diseases
Disease Genetics
Life Sciences > Health Sciences > Clinical Medicine > Clinical Genetics > Disease Genetics
Paediatric kidney disease
Life Sciences > Health Sciences > Clinical Medicine > Diseases > Kidney Diseases > Paediatric kidney disease
Life Sciences > Health Sciences > Clinical Medicine > Nephrology
Life Sciences > Biological Sciences > Molecular Biology > Protein Biochemistry > Proteolysis > Lysosomes