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It is not unusual for Dr Léon Mutesa, a medical geneticist in Rwanda, to have patients come to his clinic suffering from a rare disease or disorder, yet they had been wrongfully diagnosed with other conditions, or have ineffective therapies prescribed for them.

For him, this in part is caused by the ignorance about such diseases not only among the citizens but also medical practitioners, yet early detection is a good thing in improving the lives of those that are having such diseases.

Rare diseases are diseases or disorders that affect a small percentage of the population, and most of them are genetic and thus are present throughout the person’s entire life.

In Rwanda, the common rare diseases or disorders include Williams’s syndrome and Down Syndrome, which are both genetic disorders characterized by growth delays and a varying degree of mental deficiency.

However, all over the world, there are over 6,000 identified rare diseases, and over 300 million people are living with one or more of them.

Rare diseases currently affect 3.5% - 5.9% of the worldwide population, and yet, as Dr Tedros Ghebreyesus, the Director General of the World Health Organisation (WHO), said it in 2019, these people "often wait years for a diagnosis and struggle to access the medicines or care they need.”

World over – not just in Rwanda – there is lack of enough scientific knowledge and quality information on the diseases, and this often results in delays in diagnosis.

In Rwanda, there are only two medical geneticists who can be referred to for consultations in regard to these diseases, and as one of them, Dr Mutesa says there should be campaigns to inform fellow medics about these diseases, and the general community so that those that are affected can always be detected early and be given assistance.

"Even my colleagues – doctors – sometimes don’t know a lot about these disorders,” he said, adding that the challenges of misdiagnosing rare diseases in the country are no surprise – because awareness is still low.

Manzi Ndamukunze, a parent of a child affected by Williams’s Syndrome, is one of those that had challenges due to limited knowledge about these disorders in Rwanda.

His son was diagnosed with a heart issue, little did the medics know that it was as a result of Williams’s Syndrome.

Later on, when he took the child to India for surgery, the medics found out that it was due to Williams’s syndrome.

Since then, Ndamukunze embarked on a journey of learning how to take care of his child.

"Today he is 16, has gone through about four surgeries, but he is living and we take care of him,” he said.

After diagnosing these disorders, medical geneticists like Mutesa always prescribe specific therapies for children with such conditions to assist them learn to walk, talk among other activities – since they don’t grow in a normal way like other children.

However, Mutesa notes that there are not enough medics in Rwanda that can administer such procedures like speech therapy or specialized physiotherapy for such children.

"We don’t have enough qualified people. When it comes to, for example, specialised physiotherapy that I recommend for most of the patients, there are not a lot of people qualified for that. Or when I prescribe speech therapy for the children with speech impairments, there are not a lot of people to do it in Rwanda – in fact I know only one person who can do speech therapy in Kinyarwanda,” he said.

According to Mutesa, if detected when still infants, children with conditions like Williams’s syndrome and Down syndrome can be given specific treatments and they can learn to talk, walk among other things.

On the contrary, if the children don’t get diagnosed early, the can live with speech, posture and movement disabilities.

"If given treatment early at about 3 months of age, at 6 months they can sit, at 9 months they can stand, and at one year they can walk,” Mutesa says.

There isn’t enough data on these disorders in Rwanda, however, in his database, Mutesa says he has about 800 people who have Down syndrome.

However, he notes that there may be a number of them that are hidden by their families, and are not registered.

Rosine Duquesne, the Founder of Autism Rwanda, an organisation that takes care of up to 57 children with Down syndrome, says people in society don’t know much about this condition and sadly some people stigmatise children.