Helen Gradwell with son, 22-month-old Louis, who has Williams Syndrome. Photo / Ruth Keber
Helen Gradwell with son, 22-month-old Louis, who has Williams Syndrome. Photo / Ruth Keber
Next week is Speech-language Therapy Awareness Week. Reporter Ruth Keber caught up with a family bringing up a little boy with Williams Syndrome, which results in delays in development.
Louis Gradwell is almost 2 but has just only started crawling in the last few months.
His development is hindered by a rare genetic disorder, Williams Syndrome, which sees him advance a lot slower than other children his age.
Williams Syndrome affects one in 10,000 people worldwide and is knownto affect males and females equally in every culture. People with Williams Syndrome are known to be social, friendly and endearing.
Mum Helen Gradwell said she had an easy pregnancy and birth and did everything right.
"When he was born, he was born within three hours, but he had these huge bulging eyes. The midwife thought it was birthing trauma but there was nothing traumatic about it," she said.
Within a couple of days the new mum found her baby was not feeding properly and had a slightly higher palate than her other son, Oscar, now 3-and-a-half.
Tests confirmed Louis' blood sugars were extremely low.
"We were stuck at the hospital. It was supposed to be a check-up but we ended up there for 14 days. Then one paediatrician looked at Louis and knew he had Williams Syndrome.
Louis Gradwell could not keep food down for the first 11 months.
"From his facial features - his eyes were quite bulgy, ears slightly lowered, button nose and quite a wide mouth. She drew enough blood to take to Christchurch for DNA tests and within three weeks we knew."
Mrs Gradwell said it felt like she had hit a brick wall after the diagnosis.
"When you think of starting to have a family you want everything to be perfect and when you get hit with something like that you take it on your chin and think 'oh ****, what have I done wrong."
The 31-year-old said the first year of Louis' life was particularly hard with one of the symptoms of the condition being reflux.
"It was so bad, we had to pull up the carpets in the lounge. For 11 months he couldn't keep anything down after each feed." Normally a child with Williams Syndrome would have bad reflux for about 10 months, Louis did for 11 months, she said.
Other symptoms include hypercalcemia (higher calcium levels), feeding problems, colic irritability and dental abnormalities among many others. But now, coming up to his second birthday, Louis is finding his feet.
He has been crawling for a few months and has started trying to walk but is yet to say more than "mum" a few times in his short life. "But I can tell he's pretty determined.
"In milestones he is probably at the stage of a 1-year-old. He started crawling at 18 months, as opposed to Oscar, who was crawling at 8 months.
"But he just smiles. You've never seen a kid like it. If you go into the supermarket he attracts people and even though he is under 2, he is very compassionate. When he is in day care, if he sees someone crying he will crawl up to them and have this little look in his face as if to say 'are you alright?'"
"You can't reverse what he has got. The thing with Williams is that it is chromosomal, so he is missing half of his seventh chromosome. It happens through conception."
Mrs Gradwell said she and her husband hadn't researched the disorder in depth.
"We don't want to put limitations on him. If I start researching, in the back of my mind I will think, 'he's going to be walking at 2' and if he doesn't, we just treat him as his own little guy doing things in his own time. "[We are] not really focusing on the how or when and just take it as it goes. If it happens it does and if he doesn't, it's sweet."
However, she said she knew her little boy would become self-sufficient to a certain extent in the future.
Helen Gradwell and husband Emmett are giving their younger son Louis all the time he needs to develop at his own delayed pace.
"He will be able to walk, talk, eat and sleep properly, but it will just be hugely delayed with the possibility of a teacher aid at school."
When Louis is 6, doctors will be able to do proper testing to find out the severity of his condition, but he is already working with an occupational therapist and speech language therapist.
The Gradwells know of two other families who have children with the syndrome and a man, 52, who lives on their street and is married with three children.
"We used to say as long as the baby has 10 fingers and 10 toes we will be happy - but now we keep extending the list."
Fiona Hewerdine, speech language therapist team leader at BOPDHB, said communication disabilities affect over 300,000 New Zealanders.
Williams Syndrome
Williams Syndrome is a genetic condition that is present at birth and can affect anyone. It is characterised by medical problems including cardiovascular disease, developmental delays, and learning disabilities. These occur side-by-side with striking verbal abilities, highly social personalities and an affinity for music.
