Ehlers-Danlos syndromes

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RARE Revolution talk to Nthabeleng Ramoeli, the Founder of Rare Diseases Lesotho Association. After being diagnosed with Ehlers Danlos syndrome a rare genetic tissue disorder, Nthabeleng decided to start an association that helps patients with rare diseases like her self.

Nthabeleng Ramoeli

My life motto is: Accept what you can’t change, change what you can, you are more than your situation. Chase you’re dreams no matter how much your reality changes, if its impossible divert and not give up just change your approach. Everything happens for a reason and god would never let go through anything he knows you can handle. Challenge yourself push your limits.

What are Ehler's-Danlos syndromes?

EDS are a group of rare inherited conditions that affect connective tissue. Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones. There are many types of EDS that can share some symptoms including: an increased range of joint movement (joint hypermobility); stretchy skin and fragile skin that breaks or bruises easily. 

The different types of EDS are caused by faults in certain genes making the connective tissue weaker. Depending on the type, the faulty gene may have been inherited from either one or both parents. It is also not necessarily inherited and can occur in a person for the first time.

EDS can affect people in different ways. For some, the condition is relatively mild, while for others their symptoms can be disabling. Some of the rare severe types can be life-threatening. Symptoms commonly include, but are not limited to, long-term pain, chronic fatigue, dizziness, palpitations and digestive disorders. Such problems and their severity vary considerably from person to person.


Nthabeleng's journey with EDS

Nthabeleng's dreams never involved always being in hospital, wondering if she would be walking tomorrow or suddenly need to rely on a wheel chair. "I look perfectly normal to a naked eye, yet people with EDS can deal with immersive chronic pain".  
Due to the lack of knowledge and under diagnosis of EDS worldwide and in particular in Africa, (Nthabeleng lives in Lesotho), her dream became to educate and help bring awareness of this disease. After suffering for more than five years of misdiagnosis and receiving little or no support, it became clear to her she wanted to help educate and raise awareness of this disease. In Lesotho there wasn't enough being done to help those with EDS live a better life and minimise the pain.

Nthabeleng discusses how the health system in Lesotho does not support those with a rare or invisible disease, and that the nation as a whole needs more education about rare disease, for example, that there is no cure for many of these conditions, but the method and way they are managed can increase the life span and improve the quality of life for those living with a rare condition such as EDS.

 
Rare Diseases Lesotho Association (RDLA)

RDLA is a non-profit organisation, registered in October 2017, its vision is to revolutionise and raise awareness about rare disease in Lesotho through collaboration with the communities of patients, caregivers, healthcare providers, researchers and supporters to transform the lives of those living with rare disease.

The organisation assists patients affected by rare disease to access treatment and support, including finding ways to access financial assistance. They aim to work with the government, educational institutions, health institutions and with regional and global partners to assist people with a rare disease.

Nthabeleng's drive and passion to educate and raise awareness has led her to speak at health conferences both at home and internationally. She hopes to motivate those around her to live their dreams and follow their ambitions, pushing boundaries and stereotypes.

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Have you been affected by EDS?
If you live in  UK and want to learn more then visit Ehlers-Danlos syndromes community through the NHS website or visit
Ehlers- Danlos Support UK