Local newsNews

Rare syndrome teen’s mom raises awareness

"I started with early intervention and did everything with her as you would with a normal child."

A mother of a 14-year-old girl with a rare genetic syndrome aims to raise the awareness of the disease and bring mothers raising sufferers together.

“This is my second attempt at raising awareness about Cri du Chat, I want to give people hope and ensure they don’t give up when they raise children with rare and incurable syndromes or disorders,” Marsha Coetzee said.

She said the journey of raising a disabled child was tough and lonely thus she wanted to ensure other parents did not feel alone.

ALSO READ: UPDATE: North pensioner tells of struggles caring for son with Down syndrome

“I’m tired of struggling alone in a community where no one knows about this.”

Coetzee said she first realised how little information was available and how few people knew about the syndrome when she researched the syndrome when her daughter was four-months-old.

“Then my journey started on the internet and I started reading up on it and there was little to no information about the syndrome,” she said.

“It was mostly trial and error but the little information I did get I used it very well and I believe it helped me.”

The proud mother said the information gave her hope even after being told her daughter would not live to reach the age of two.

“They said she would never be able to walk and that she’d be a vegetable…it was a lot to take in,” Coetzee said.

She said though raising her daughter had not been easy, her early intervention had played a big role in getting her to where she is today.

“I did everything with her as one would with a normal child.”

“I see her as my normal and I did the best I could as a mother.”

Coetzee said it was very hard to communicate with other parents of sufferers because they were far and few between. “The only one I have found yet is in Honeydew, Johannesburg and her son was already 42-years-old,” she said adding that that parent had encountered the same difficulty when she tried to start a support group.

Coetzee said some of the biggest challenges she experienced included having to restrain her daughter while she did some chores.

ALSO READ: WATCH VIDEO: This 7-year-old girl’s message about Down syndrome is going viral

“If you need to do things around the house you need to restrain her because she doesn’t have impulse control nor does she know right from wrong.”

“They need 24-hour assistance because they are only distracted for a short while until they decide to start getting up to mischief,” she said.

Coetzee said she hoped to raise the awareness of the syndrome and bring the parents of other disabled children together in a series of events in the north of Pretoria this month to commemorate Cri du Chat syndrome awareness week, which ends on 10 May.

According emedicine.com Cri du Chat syndorme is an autosomal deletion syndrome caused by a partial deletion of the p arm of chromosome 5 (5p) and is characterized by a distinctive, high-pitched, catlike cry in infancy with growth failure, microcephaly, facial abnormalities, and mental retardation throughout life.

Symptoms and characteristics of people with the syndrome:

– High-pitched cry

– Mental retardation

– Delayed development

– Small head size

– Widely-speaced eyes

– Low birth weight

– Weal muscle tone

– Difficulty with language

– Delays in walking

– Feeding difficulties

Do you have more information about the story? Please send us an email to editorial@rekord.co.za or phone us on 083 625 4114.

For free breaking and community news, visit Rekord’s websites:

Rekord East

Rekord North

Rekord Centurion

Rekord Moot

For more news and interesting articles, like Rekord on Facebook, follow us on Twitter or Instagram

 
Back to top button