Seven-month-old with rare 'bubble baby syndrome' needs life-saving transplant

accreditation
0:00
play article
Subscribers can listen to this article
"Finding a donor match for her will be an incredible blessing". (Image Supplied by DKMS Africa)
"Finding a donor match for her will be an incredible blessing". (Image Supplied by DKMS Africa)

High school sweethearts RJ and Natasja Swanepoel have been married for 11 years. Their 7-month-old daughter, Karien, is their only child and long-anticipated "gift from God".  

This year in mid-October, baby Karien was conclusively diagnosed with Severe Combined Immuno-Deficiency (SCID) after a range of extensive and invasive diagnostic tests spanning two months and three separate hospitals. 

Despite the news of the dire diagnosis, the Swanepoel's, after many weeks, had a measure of relief of finally knowing the definitive cause behind Karien's spate of illnesses and began discussing the treatment plans.  

Also read: 'An absolute miracle': Local baby born with severe birth defect survives against enormous odds

Sudden onset of wide-ranging symptoms 

SCID, also called "bubble baby syndrome," is a group of rare disorders that impairs the body's infection-fighting immune cells, which essentially means that baby Karien has little to no immune system. 

Before her sudden onset of wide-ranging symptoms, baby Karien was a happy, healthy baby who fed well and slept through the night.

Natasja recalls Karien as an easy-going baby full of strength and character and perceptive beyond her tender age. Alana James, Executive Director at DKMS Africa (formerly known as The Sunflower Fund), says that "baby Karien deserves a second chance at life". 

"At only seven months old, she should be playing with her toys; instead, she has a life-threatening illness that's threatening to cut her life short," James says. 

A life-saving blood stem cell transplant 

Baby Karien is currently being treated at Cintocare Pretoria and has three dedicated specialists attending to her.

Due to her almost non-existent immune system, she is isolated in high intensive care. She has battled several critical conditions, including mastocytosis with resulting biopsies, double pneumonia, polio, BCG, rotavirus, and many other acute infections. 

The adverse effects of multiple diagnoses and treatments have resulted in baby Karien being fed through a tube and even relying on a ventilator at some stage, with mom and dad taking turns around the clock to stay by her side.  

Doctors have confirmed that baby Karien needs a life-saving blood stem cell transplant from a matching donor to receive a second chance at life. 

Also see: Paediatric heart specialists are reaching out to save young lives in rural areas

'A ripple effect'

Ordinarily a private family, the Swanepoels are now turning to the public in their desperate plea to encourage as many qualifying blood stem cell donors to join the DKMS Africa registry and give hope to their beautiful baby girl and family as a whole. 

The support the family has received so far has been overwhelming, and Natasja talks about how she has learnt that an experience like this touches so many people and that it is important for them to feel that they can help and make a difference.

"It creates a ripple effect, and you should allow the good light to shine," says Swanepoel. 

"Karien is such a special little girl who has touched the lives of so many people in such a short span of time. Finding a donor match for her will be an incredible blessing, but if someone else finds their match through this process, then it will be all the more meaningful. Please register today,” pleads Natasja Swanepoel. 

Visit Dkms-africa.org to find out more about becoming a blood stem cell donor. 

Submitted to Parent24 by DKMS Africa. 

Chatback:

Share your stories and questions with us via email at chatback@parent24.com. Anonymous contributions are welcome.

Don't miss a story!

For a weekly wrap of our latest parenting news and advice sign up to our free Parent24 newsletter.

Follow us, and chat, on Facebook and Twitter.

We live in a world where facts and fiction get blurred
In times of uncertainty you need journalism you can trust. For only R75 per month, you have access to a world of in-depth analyses, investigative journalism, top opinions and a range of features. Journalism strengthens democracy. Invest in the future today.
Subscribe to News24