Scot involved in medical trial that helped sister get diagnosed with Down syndrome

A Scotsman who was tested in his mother’s womb in a research trial unwittingly played a role in devising a test that led to his little sister’s diagnosis of Down’s syndrome ten years later .

Mum Hazel Toal from Erskine, Renfrewshire said she “hadn’t thought about it” when doctors asked if her unborn baby could be evaluated for research in 1998.

Lewis Toal, now 22, had his nuchal fold, an area of ​​fat at the top of his neck, measured as part of medical research.

Emily Toal with her older brother Lewis

From patient studies, the nuchal fold test was developed. This detects Down syndrome as well as conditions of chromosomal abnormalities limiting life; Edwards syndrome and Patau syndrome.

And it was that very test that led to Lewis’s younger sister, Emily Toal, being diagnosed with Down syndrome nine years later.

Emily and mom Hazel

Retired police officer Hazel told the Record: “It’s amazing how the circle has come full circle.

“As long as medical research is ethical and for the right reasons, I totally agree.

“We didn’t know Lewis would effectively help his little sister get diagnosed with DS almost a decade later, it’s amazing.”

Scot involved in medical trial that helped sister diagnosed with Down's syndrome
Emily like a baby

Doctors performed a nuchal fold test on Emily when Hazel, now 50, was around 11 weeks pregnant.

“His nuchal fold was thicker than average,” added Hazel.

“This meant that while the odds of getting DS are generally about one in 2,000, Emily had a one in six chance.

Scot involved in medical trial that helped sister diagnosed with Down's syndrome
Emily is living her life to the fullest

“A CVS (chorionic villus sampling) test was done the same week and confirmed that she had DS.”

During a CVS test, a small sample of cells (called chorionic villi) is taken from the placenta where it attaches to the wall of the uterus through a thin tube inserted into the cervix.

Chorionic villi are formed from the fertilized egg, so they have the same genes as the baby.

A CVS test can detect chromosomal or genetic disorders in a fetus, such as SD.

Scot involved in medical trial that helped sister diagnosed with Down's syndrome
Emily Toal with her family who “spoil her rotten”

Emily was born on April 27, 2010 and has since been adored by Lewis, half-brother Calum Ball, 15, and proud dad, James Toal, 38.

The fun-loving schoolgirl has spent her life proving that all stereotypes and negative perceptions of DS are wrong, and so have the ‘bewildered’ doctors.

“I was told DS babies couldn’t breastfeed, but Emily latched onto the breast right away,” added Hazel.

Scot involved in medical trial that helped sister diagnosed with Down's syndrome
Emily loves to dance and perform with her drama school

“She was born with a hole in her heart and, despite her DS, was strong enough to undergo full open heart surgery at 11 weeks to fix it, making a full recovery.

“Out of the blue, she suffered a stroke when she was four years old.

“Doctors feared she would be hospitalized for about 15 days before she could begin the recovery process, but she was home within 24 hours.

“She surprises us every day.”

Between walking a tightrope, performing in theatrical productions and shattering ballet reviews, there is no stopping Superfan from Strictly Come Dancing Emily, who inspires those around her.

Hazel said: “We always say ‘be more Emily’ because of her attitude towards life.

“A diagnosis of DS can be scary, but you’ll be fine.

“Emily is 95% the same as everyone else.

“She’s more the same than different.

“Yes, DS families may have problems to solve and do things at different paces, but their child will still be like any other child in many ways.

“It’s also important to accept being different, just like Emily. “

Charlotte’s story

Scot involved in medical trial that helped sister diagnosed with Down's syndrome
Julie Telford, Charlotte Drummond and Colin Drummond

A nuchal fold test first alerted Julie Telford, 50, that her daughter Charlotte Drummond potentially had DS when she was around 12 weeks pregnant.

For Julie and her husband, Colin Drummond, 56, Charlotte is a true “miracle” after the couple struggled to conceive for eight years before their 11-year-old daughter arrived.

Julie, Project Manager at Renfrew, said, “Charlotte made me a mom and a family, that’s all that matters to us.

Scot involved in medical trial that helped sister diagnosed with Down's syndrome
Charlotte challenged doctors to be born at a healthy weight, breastfeed easily, and overcome open heart surgery as a newborn baby

“She was conceived during our second and last IVF, it’s a real miracle.”

She added: “DS was confirmed at around 17 weeks pregnant. Disability is not a scary thing for me as it is in my family.

“But DS was still new and on the pitch, we thought, where do we go from here?”

Scot involved in medical trial that helped sister diagnosed with Down's syndrome
Charlotte goes horseback riding

Seeking advice from support groups and other families with DS families, Julie and company manager Colin welcomed the beautiful Charlotte in March 2012.

Like Emily, Charlotte challenged doctors and unfair stereotypes.

“I was told Charlotte would be born early, born small and unable to breastfeed, she was born on time, weighed eight and a half pounds and breastfed like a dream,” added Julie.

“She was born with three holes in her heart which was terrifying and passed the DS.

“She had open heart surgery at 11 weeks and made a full recovery, she’s a real fighter.”

A passionate dancer and gymnast, Charlotte lives to the fullest and dreams of going on stage one day like her idols, Katy Perry and Pink.

Scot involved in medical trial that helped sister diagnosed with Down's syndrome
“Superstar” Charlotte starred in the I Am Me campaign which provides teachers with a DS lesson plan for schoolchildren

She was recently part of a Scottish band with DS who starred in the I Am Me campaign.

Aimed at children in grades 5 to 7, the lesson plan dispels myths and discourages. hate speech and educates about what it’s like to have DS.

“Charlotte was a little shy, but she really got down to it,” added Julie.

“When the lesson was broadcast at her school, she really had superstar status.

“We are so proud of what she has accomplished.

A spokesperson for Down Syndrome Scotland told the Record: “We understand the arguments that non-invasive prenatal testing is a more accurate screening test and that it can be helpful for parents to know in advance that their child may have Down syndrome; we want to ensure that pregnant couples who choose to be tested receive accurate, informed and balanced information about Down syndrome, at every opportunity.

“We believe, however, that we have spared no effort to eliminate unconscious bias to ensure that expectant parents get the best advice, information and guidance possible from the best prepared and trained healthcare professionals.

“People with Down’s syndrome enrich the lives of everyone they come into contact with and they improve the communities in which they live.

“We are convinced that Scotland would be a poorer place without their visible and appreciated contribution.

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