Youth recounts odyssey to EDS diagnosis
‘. . . noone knew what I suffer from
until I took matters into my own hands’
’MATHATO SEBOKA
MASERU – Nthabeleng Ramoeli, a 32-year-old woman, has grappled with the rare condition known as Ehlers-Danlos Syndrome (EDS) throughout her life. EDS encompasses a spectrum of inherited disorders impacting connective tissues, including the skin, joints, and blood vessel walls. These tissues, composed of a complex array of proteins and other substances, lend strength and elasticity to the body’s underlying structures. Growing up within her family, Ramoeli sensed a disconnection from her peers and was always aware that something was amiss with her health.
Recalling her childhood, she reflects: “I used to struggle during winter, an abnormality that only my grandmother took note of. My flexibility as a child was a symptom of the condition I live with. Multiple allergies plagued me, all seemingly unrelated until later revelations. Vision problems plagued my early years; frequent dislocations of my eye lenses necessitated glasses from preschool.”
Around the ages of 11 to 12, Ramoeli’s condition took a drastic turn for the worse. Instead of progressing into adolescence with the anticipated growth and strength, her body rebelled. Frequent dislocations plagued her joints, rendering her highly accident-prone. Skin fragility intensified, leading to frequent breaks and tears. “When my skin began breaking, we initially attributed it to eczema and, in fact, I received an eczema diagnosis. However, my family remained unaware of the interconnectedness of all my symptoms and the broader impact of my condition on various bodily systems.
“It was a period of chaos because, for a long time, we approached each symptom individually without realising they were all manifestations of one underlying issue: a genetic mutation within my body. I remained oblivious to this reality throughout my teenage years,” recalls Ramoeli. At the age of 16, she experienced the condition’s effects on her stomach for the first time. For instance on one occasion after tasting the salt in the beans, she immediately had a severe reaction.
“My abdomen swelled dramatically, resembling that of a pregnant woman. It dislocated a ribcage and shifted my entire ribcage out of place. I vividly remember arriving at the emergency room where the attending doctor expressed astonishment, admitting it was the first time they had encountered such an anomaly,” Ramoeli recounts. Her medical challenges continued to escalate, with one complication following another. At one point, virtually every organ in her body had issues, including her heart, liver, and even her thyroid bone, which she did not realise existed until it dislocated.
“I only received a formal diagnosis after conducting extensive research into my condition in 2011. This followed numerous visits to ICUs, various hospitals, and consultations with doctors across Botswana, Lesotho, South Africa, Namibia, and Europe. Despite this extensive search for answers, no healthcare professional had been able to pinpoint the cause until I took matters into my own hands,” shares Ramoeli.
In her quest for answers, she often encountered frustrating dead ends during medical consultations, prompting her to delve deeper into her condition through research. Eventually, her relentless efforts led her to uncover the true nature of her ailment. She sought the expertise of overseas physicians, providing them with her medical records and findings, which corroborated her suspicions.
“They confirmed that I indeed had a condition known as EDS, specifically the rarest subtype characterised by a systemic disorder affecting all connective tissues. The challenge with this condition lies in its enigmatic origins as to this day, researchers worldwide are endeavouring to unravel the genetic anomalies underlying this exceptionally rare disease,” she explains. Growing up with such a rare condition posed numerous challenges for Ramoeli, significantly impacting her education.
Frequent hospital visits disrupted her schooling, necessitating a prolonged academic journey. She embarked on her tertiary education in 2010, yet it was not until 2019 that she completed her programme. “Another obstacle I faced was societal acceptance and overcoming the perception of weakness due to health issues. The insidious nature of this condition renders it invisible to casual observers; one cannot discern illness merely by appearance. However, upon closer observation, subtle signs such as gait abnormalities may betray underlying health struggles,” Ramoeli reflects.
Accessing suitable food posed a significant challenge for Ramoeli in Lesotho, where limited resources and high costs made maintaining a specific diet a struggle.Recognising the importance of nutrition in managing her condition and striving for a semblance of normalcy, she sought out healthier options. “Our local food options were inadequate, necessitating trips across the border to South Africa to procure the necessary items. However, recent developments, such as the emergence of a retail shop catering to these needs, have eased the burden.
“Financially, managing this condition is overwhelming. I used to spend approximately $3,000 monthly on medication alone, often travelling from Namibia, where I attended school, to Johannesburg for consultations with specialists,” Ramoeli says. Reflecting on her journey, Ramoeli noted a reduction in the frequency of health episodes compared to her younger years, attributing this improvement to a deeper understanding of her body’s needs. She now consciously avoids triggers that could precipitate adverse reactions.
“Many individuals with my condition receive diagnoses much later in life, often in their 40s. I consider myself fortunate to have been diagnosed at the ages of 21 and 22, an uncommon occurrence even on a global scale. “My proactive approach to seeking answers and advocating for my health played a pivotal role in this early diagnosis, a privilege I do not take for granted,” says Ramoeli. She initiated the Rare Diseases Lesotho Association (RDLA), a non-governmental organisation established in 2017, inspired by her own diagnostic challenges.
Motivated to assist fellow Basotho facing similar struggles, she adopted the motto “Together We Are Stronger,” aiming to foster change and raise awareness. In Lesotho, one in 2 000 individuals grapples with rare diseases. Despite lacking external funding, RDLA operates with the dedication of approximately 15 volunteers, who commit their efforts daily. Currently, the organisation serves around 200 rare disease patients. Ramoeli actively participates in the Rare Disease Women Researchers group, advocating for research initiatives and identifying commonalities and variations within rare disease populations.
Through their endeavours, they uncovered intriguing regional patterns in disease prevalence within Lesotho. Ramoeli explains: “For instance, our research revealed that certain regions, such as Mohale’s Hoek and Mafeteng, exhibit a higher incidence of cardio-related rare diseases, while skeletal and muscular rare diseases are more prevalent in Leribe. We are still exploring the genetic or environmental factors contributing to these findings,” she says.
The severity of symptoms varies widely. Patients with milder cases can lead relatively normal lives, while others become housebound and even some among them cannot digest food so they must be fed through tubes. Dr. Linda Blustein, a Colorado-based physician who specialises in EDS and other hypermobile conditions and lives with EDS herself said she was told in her medical school, when you hear hoof beats think horses not zebra and many trainee doctors are taught the same advice. When a patient presents with symptoms, look for a common thing.
“That is why EDS patients commonly refer to themselves as zebras and also the fabulous collective noun ‘dazzle’. The name represents rarity and evokes the stripy stretch marks that are a common feature on EDS skin,” Bluestein says. She explains that undiagnosed patients might consult a neurologist for their migraines, a rheumatologist for joint pain and other doctors for all the different symptoms. Each doctor focuses on the symptoms that fall within their speciality but does not consider the other ailments.
“Nowhere along the way does somebody realise that there are certain conditions that could tie all these things together and explain everything,” says Bluestein A 2009 study conducted by European Organisation for Rare Disease, surveyed 414 families of EDS patients from five countries and found that the average delay to EDS diagnosis was four years for men but 16 years for women. The report states that women with EDS tend to be diagnosed later because their pain and hypotonia (poor muscle tone) are not considered as physical symptoms but rather as physiological symptoms or common complaints.
