#RarenessAwareness: Campaign calls for stem cell donations from all races

A call has gone out during the recently observed Rare Diseases Day to persuade more donors of colour – Black, Coloured, Indian people – to donate stem cells that could save lives. This was at a campaign hosted by the Centre for Human Metabolomics (CHM) on the Potchefstroom campus of North-West University (NWU).

“The more people of all races we have on the [stem cell] registry, the better the chances of us servicing or assisting all patients and saving lives,” said Velicia Hammond, a Donor Recruitment Coordinator for DKMS Africa.

The South African National Blood Service (SANBS) and DKMS, which is an international non-profit organisation dedicated to the fight against blood cancer and blood disorders, were part of Rare Diseases Day. International Rare Diseases Day takes place annually on 28 February unless it is a leap year, in which case it falls on 29 February, which is a rare day.

“We are familiar with the team at Rare Diseases SA and want to show our support for their work. It is also a lot of fun [to share the information] and one of the highlights of the year for us at the centre,” said Prof. Chris Vorster, Director of the Centre for Human Metabolomics.

“The main goal of our drive is to raise awareness of rare diseases,” he said.

“A rare disease is a type of disease that only affects 1 in every 500 births. and 1 in 15 people in South Africa is affected by a rare disease, and there are over 7 000 such diseases identified. It is an inherited disease and because of that it is and can only be genetically diagnosed,” said Dr Maryke Schoonen, a Senior Research Fellow in biochemistry. 

In South Africa, there is a need to broaden the knowledge base on rare diseases, because it is well-evaluated in the caucasian populations of America and Europe. Whereof in the African populations, there is still a vast number of genes to be identified that are disease-causing. 

She emphasised the importance of early detection through newborn screening. The results are typically available in the first 24-48 hours after the child’s birth. So, if there is a problem medical practitioners can start immediately with treatment, which will help the child to develop as optimally as possible. “If we can’t cure it, we can alleviate the symptoms and we can help,” she said. 

Touching on the notion of race, Hammond stressed the importance of diversity in the donations they receive at DKMS. 

“In terms of what we do at DKMS, ethnicity and ancestry play a big role. The chances of you being a donor outside your ethnicity is less than 1%, so the chances of a patient of colour receiving a match are significantly lower because there are fewer donors of that person’s ethnicity on the registry,” she said.  DKMS has created a registry, so if a person registers, a match may be found. “If you register, the benefits are you might save somebody’s life. Although some people may never find a match, it gives them hope,” she said. 

“In order for these patients [who have rare diseases] to receive treatment, which typically includes chemotherapy and radiology, and if these treatments do not work, a stem cell transplant is required. In these instances, patients need a donor who is a 100% HLA tissue type match. To find a match the chance is one in a hundred thousand. If they don’t receive a match, chances are they will not survive. So what DKMS does, is to give patients hope,” said Hammond. 

According to information on the website of the organisation LifeCell, HLA matching/typing is a process to match donors and recipients. Finding the best fit requires extensive testing. It needs a 100% match across 8 indicators for a bone marrow or stem cell transplant to be successful.

Schoonen said the student participation in the day’s activities was ‘amazing’.

Gomolemo Motshwanedi, a second-year student, said she wanted to contribute. “I don’t have money, food or clothes to donate, but at least by donating my blood, I can make a difference to someone’s quality of life out there.”