‘You're making the biggest mistake of your life,” the doctor warned Charmaine Kay as he looked at scans of her 21-week-old baby.
The chest and leg measurements were too short for her gestation age, appearing like those of a 14-week-old. The doctor, in not so many words, advised her to terminate the pregnancy.
But Kay, who already had two children, told the doctor that she was too far into the pregnancy and didn’t want to.
She was devastated by the news and didn’t know what was wrong. The doctors couldn’t give her a proper diagnosis until she gave birth.
“I thought, I’m not going to end my child’s life because I am afraid to take the risk,” the Cape Town-based mother said.
That was 11 years ago and today, the proud 40-year-old mother of Leah, a feisty and outspoken child diagnosed with a genetic condition called achondroplasia (dwarfism), has made it her mission to dispel the myths.
Kay started a blog called “Raising Leah” soon after her birth to counter the negativity and stigma around dwarfism. The blog, which is no longer active, has found new life as a Facebook page, celebrating Leah’s life and offering support to other families in a similar position.
According to the National Organisation for Rare Disorders, achondroplasia is a form of short-limbed dwarfism.
It is a rare genetic disorder characterised by an unusually large head with a prominent forehead and flat nasal bridge, short upper arms and legs, unusually prominent abdomen and buttocks, and short hands with fingers that assume a three-pronged position during extension.
While various methods may be used to improve the quality of life, it cannot be cured.
Dejected because her doctors kept telling her what she was taking on was an “impossible task”, Kay admitted to being depressed during her pregnancy and struggling with feelings of disconnection with her baby.
The first thing she did, was to give her unborn baby a name.
Having undergone two natural births with her previous pregnancies, Leah was delivered by an emergency Caesarean section.
But even then, nurses who helped with Leah’s delivery didn’t think that the little girl would survive more than a few hours.
“I was in isolation and could see my baby struggling to breathe I remember the nurses saying there was no hope and I just prayed.”
And the next morning, her prayers were answered. Leah was still alive and fighting for survival.
She was diagnosed soon afterwards, but Kay admitted that in the first three to four months, she was living in “ignorant bliss”.
“People would Google about the condition and send me pages, but they were all so negative.
“It was all about how one shouldn’t do this or that or the child might die.
“And I just shut all that out. Until one evening when Leah had trouble breathing and we took her to the emergency room.
“That’s when we found out that certain positions of sitting or sleeping obstructed her airways. I knew that I had to start educating myself,” she said.
Kay kept in touch with the Red Cross Genetics Clinic whose advice she prized over the internet scaremongering.
She also made a positive connection over the internet with another mother whose son had the condition, and they shared information and kept in contact. Kay also found an ally in the organisation, Little People of America.
“At that time, South Africa didn’t have a support organisation for people living with dwarfism.
“Children with dwarfism are sent to special-needs schools when there is no need for it, because they aren’t intellectually disabled. Leah is 11 years old and some people still speak to her as though she is deaf,” Kay said.
Through the blog and Facebook page, Kay said she wanted to take away the gloom around the condition.
Kay said: “I want to give parents something I didn’t have 11 years ago - hope and positivity. You have to become an advocate for your child you have to celebrate all parts of their life, good and bad parts of the journey.”