Every parent’s wish is to have a healthy child. Sadly for Manzi Ndamukunze and his wife, this wasn’t the case.

Sixteen years ago, eight months after giving birth to their first child, they realised that he had a medical condition that would later hinder his wellbeing.

The couple found out that their son has a disease known as ‘Williams Syndrome’ (WS), a rare neurodevelopment genetic disorder that features mild learning or developmental challenges, high levels of calcium in the blood and urine, and a markedly outgoing personality.

Manzi says the delay in detecting the problem was mostly because of unawareness about the condition, not just with them as parents, but also the medical practitioners. 

At the moment, their son, Gwiza, has so far gone through four heart surgeries, all to help him manage the condition and live a normal life.

Inspired by his child’s improvement, Manzi decided to establish ‘Centre Alliance’ in Kigali to take care of children with similar conditions—his main objective is to raise awareness concerning rare diseases in general.

"I founded the centre to help children with basic life skills including how to read and write. The centre will, among other things, help children to socialise and get familiar with society. We also engage with parents to comfort them and offer course packages on rare diseases so that they can take care of their affected children,” he says.

Understanding rare diseases

Medics say that when rare diseases are detected early, it can help improve the lives of those affected.

Williams Syndrome is a disease or disorder that affects a small percentage of people, and being a genetic disorder, it is present throughout a person’s life.

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

There are various types of rare diseases, like achalasia (a rare disorder making it difficult for food and liquid to pass into the stomach), Down Syndrome, also called Trisomy 21 (a genetic chromosome 21 disorder causing developmental and intellectual delays), and autism (a serious developmental disorder that impairs the ability to communicate and interact), among others.

It has been established that more people are impacted by rare diseases than by cancer and HIV/AIDS combined. With 400 million patients suffering from rare diseases worldwide, they seem not so rare after all. But a lack of education, infrastructure, and technology makes the diagnosis of these diseases highly challenging.

Prof Leon Mutesa, professor of Human Genetics at the University of Rwanda and a medic at University Teaching Hospital of Kigali, says even to medics, it’s still hard for them to diagnose the condition, making it even harder for parents to single out some of the signs and symptoms that come with rare diseases.For this reason, he points out that there is a need to create awareness for rare diseases so that people can get diagnosed early and receive medical attention to prevent further complications.

Rare diseases’ are characterised by a wide diversity of symptoms and signs that vary, not only from disease-to-disease, but also from patient-to-patient suffering from the same disease.

Children with rare diseases, Mutesa says, mostly experience learning and behavioural problems that usually begin between the ages of 4 and 10 and worsen overtime.

These symptoms include difficulty reading, writing, understanding speech, and comprehending written material.

Additional signs and symptoms include aggressive behaviour, vision problems, difficulty swallowing and poor coordination.

Causes

Dr Joseph Mucumbitsi, a cardiologist and the president of Rwanda Heart Foundation, says there are many causes of rare diseases and that many are believed to be genetic, which means they are directly caused by changes in genes or chromosomes.

In some cases, he says, the genetic changes that cause the disease are passed from one generation to the next, while other times they occur randomly.

Researchers have established that while a lot of progress has been made in learning how to diagnose, treat and prevent a variety of rare diseases, there is a lot of work to do because many rare diseases are still without treatment.

Figures from World Health Organization (WHO) show that 300 million people suffer from such diseases worldwide.

Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offerings inadequate and research limited. This exposes patients to limited healthcare access and proper education.

It has been shown that people with such conditions need special attention to unleash their potential, but such facilities taking care of them are rare in many countries.