It took me 28 years to be diagnosed - Akellot

Ms Daniella Akellot who has  classical Ehlers- Danlos Syndromes (EDS), a genetic connective tissue disorder with symptoms including stretchy skin and joint hypermobility. Photo/Courtesy

What you need to know:

  • She advises those suffering from rare conditions to research about the symptoms before consulting a specialist.

In this third part (of four) series of covering rare diseases in the country, Ms Daniella Akellot opens up about having classical Ehlers- Danlos Syndromes (EDS), a genetic connective tissue disorder with symptoms including stretchy skin, joint hypermobility and fragile skin easily prone towards getting bruises. 

She talks to Esther Oluka about the condition and why it took her 28 years to get diagnosed.

While growing up, Ms Daniella Akellot, did not understand what was going on with her body.

She noticed that her skin was stretchy, the wounds took  long to heal and once they did, wide scars were left on her body. 
Also,  her joints were quite flexible and easily got dislocated.

“I remained quiet about my condition. I did not tell anyone, even in my family,” she says.

Akellot adds: “I kept the condition a secret out of fear of being judged, left out and laughed at.”

According to her, the dislocations of joints, for instance, happened from time to time.
“There were times I would either be getting up from a chair or walking and then hear a popping sound in my hip, a sign that something had snapped,” she recounts.

Normally, the dislocations did not require her to seek medical attention as she always knew how to properly position them back into place.

“There was one night I dislocated my shoulder and was able to fix it back by myself,” she says.

Because  the wounds took long periods to heal and left behind huge scars, this sometimes would attract unwanted stares or prompt people to ask what was wrong with her skin.

The older she became, the more the symptoms grew worse and as such, she restrained herself from engaging in activities that easily brought harm on her body.

For instance she stopped playing sports, doing heavy household chores and carrying heavy items.

“Some people then began calling me lazy and weak, not knowing this was a way of protecting myself,” she reveals.

Over time, Ms Akellot was forced to research about her condition so as to find better ways of coping with it.

The diagnosis

While reading a medical-related book in 2016, Ms Akellot came across a picture of a young boy who exhibited  similar symptoms.

She then approached one of the orthopedic surgeons at Comprehensive Rehabilitation Services in Uganda (CoRSU), a non-profit organisation with a core mandate of rehabilitating patients with orthopedic occasions.
 “After a thorough medical examination, the orthopedic surgeon eventually diagnosed my condition as Classical Ehlers-Danlos Syndrome (EDS). Imagine finding out after 28 years!” she exclaimed.

Confused and stunned by the revelation, Ms Akellot inquired about the condition and fortunately, the orthopedic surgeon offered the needed answers.

Classical EDS exhibits symptoms such as joint hypermobility, joints that easily dislocate, fragile and stretchy skin as well as wounds that take long to heal and leave wide scars.

Knowing about the condition has enabled her to manage it better by mostly refraining from activities that manifest the symptoms.

Ms Akellot says the biggest problem with having a rare condition is that it is difficult to get both a diagnosis and support from members of the community since the patient numbers are very few.

She advises those suffering from rare conditions to research about the symptoms before consulting a specialist.

The reporting of this story was supported with a grant offer from National Press Foundation (NPF) to exclusively cover rare diseases in the country.
 

What is Ehlers-Danlos Syndrome (EDS)?
Dr Paul Muwa, an orthopedic surgeon at CORSU, says; “EDS is a spectrum of rare inherited diseases that affect connective tissue. Some of the varieties include;
Vascular EDS, considered the most serious type, affects internal organs and blood vessels by making them more prone to tear, in the long-run, causing bleeding. Patients with this type are disposed to issues such as bowel tearing and womb tearing.

Hypermobile EDS where patients present symptoms such as joint hypermobility, easy dislocation of joints, extreme tiredness and skin that easily bruises.

Classical EDS whose symptoms include joint hypermobility, joints that easily dislocate, fragile and stretchy skin as well as wounds that take long to heal and leave wide scars, among other symptoms.

Kyphoscoliotic EDS where patients mostly present symptoms such as curvature of the spine, joint hypermobility and unstable joints that easily dislocate.

Treatment involves managing symptoms (depending on the type). For instance, if a patient dislocated their joint, the problem is resolved by medically (fixing) it back.