Mom raises awareness about rare condition

2016-05-18 06:00
Michelle Siyanda Ndlovu (7), who was diagnosed with a rare condition called 22q11.2 deletion syndrome when she was six months old.                   Photo: SUPPLIED

Michelle Siyanda Ndlovu (7), who was diagnosed with a rare condition called 22q11.2 deletion syndrome when she was six months old. Photo: SUPPLIED

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DESPITE being a new mother and having doctors tell her that her child has a heart condition, her instinct told her it was more than a condition of the heart.

Ntombi Ndlovu’s daughter, Michelle Siyanda Ndlovu (7), was diagnosed with a rare condition called 22q11.2 deletion syndrome, which is caused by the deletion of a small piece of chromosome 22.

Michelle, who was born in Johannesburg and currently resides in Port Elizabeth, was six months old when she was diagnosed with this rare condition.

“We noticed when she was 5 days old that her breathing wasn’t normal. We took her back to the hospital and were told that she has a heart problem and needs to undergo an open heart operation.

“It was very frustrating not to know what was wrong with my daughter. We knew it was something with the heart but she was only diagnosed when she was six months,” said Ntombi.

She added that her daughter’s condition is very rare and many doctors are not aware of it, which is why she is holding an event on May 22, with the intention of informing others about 22q11.2 deletion syndrome. The awareness event is also to acknowledge 22q at the Zoo Worldwide Awareness Day, which also takes place on May 22, where 22q families worldwide celebrate a fun-filled awareness day at the zoo.

“22q11.2 deletion syndrome causes many medical problems such as heart defects, cleft palate, low calcium, thyroid, seizures, feeding difficulties, developmental delay, learning disability, weak immune system, chronic constipation, hearing loss, spine problems, etc.

“There is no cure for 22q11.2 deletion syndrome; there are only ways to manage the problems it causes like a heart operation and several medications,” she said.

Ntombi added that while the condition is rare, it could actually be more common than many think because some people with the condition have few signs and symptoms.

“It’s very sad and frustrating for me as a parent that doctors, nurses and other medical professionals do not know about this syndrome which is so prevalent among kids. Every time I take my daughter to the hospital I have to tell the doctors about her syndrome. I have learnt to educate myself more about my daughter’s condition.”

“It’s a long and rough road, but we thank God for her. She’s an adorable loving child and she has made me a better and stronger person. We may spend most of our time at doctors’ appointments and face challenges but she is worth every moment.”

Ntombi said she has been interacting with international hospitals about her daughter’s condition.

“I’ve been communicating with Genetics Assistants at The Children’s Hospital of Philadelphia in the USA. They have been sending me information about 22q11.2 deletion syndrome.

“In 2011 we organised an awareness day in Kimberley. It was the first time South Africa joined other countries raising awareness of this nature.

“We relocated to PE last year, and I still have the same passion to launch the awareness campaign here in PE.”

Ntombi added that she is inviting all parents of children with genetic disorders, community members and professionals with special interests to join her on May 22.

“My goal is to create awareness among the community, spread awareness about 22q11.2 deletion syndrome, to create an opportunity for parents of children with genetic disorders to meet each other and develop support relationships.”

“We also welcome parents who have children with disabilities. They don’t have to be ashamed or scared that the community will judge them. This is my way of putting together a support group. Their child may have a different condition but the challenges are still the same.”

The awareness event on May 22 will be held at Holmeleigh Farmyard from 10am to 12:30pm. Entrance is free and a light lunch will be served.

For more information or to RSVP, contact Ntombi on 078 5678 142 or email

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