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 ââfat at the top of his neck, measured as part of medical research.
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.
Retired police officer Hazel told the Record: âIt’s amazing how the circle has come full circle.
âAs long as medical research is ethical and for the right reasons, I totally agree.
âWe didn’t know Lewis would effectively help his little sister get diagnosed with DS almost a decade later, it’s amazing.â
Doctors performed a nuchal fold test on Emily when Hazel, now 50, was around 11 weeks pregnant.
âHis nuchal fold was thicker than average,â added Hazel.
âThis meant that while the odds of getting DS are generally about one in 2,000, Emily had a one in six chance.
“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.
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.
âI was told DS babies couldn’t breastfeed, but Emily latched onto the breast right away,â added Hazel.
âShe 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.
âOut of the blue, she suffered a stroke when she was four years old.
âDoctors 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: âWe always say ‘be more Emily’ because of her attitude towards life.
âA diagnosis of DS can be scary, but you’ll be fine.
âEmily is 95% the same as everyone else.
âShe’s more the same than different.
âYes, 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.
âIt’s also important to accept being different, just like Emily. “
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, âCharlotte made me a mom and a family, that’s all that matters to us.
“She was conceived during our second and last IVF, it’s a real miracle.”
She added: âDS 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?”
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.
âShe 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.
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.
âWhen the lesson was broadcast at her school, she really had superstar status.
âWe are so proud of what she has accomplished.
A spokesperson for Down Syndrome Scotland told the Record: âWe 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.
âWe 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.
âPeople with Down’s syndrome enrich the lives of everyone they come into contact with and they improve the communities in which they live.
âWe are convinced that Scotland would be a poorer place without their visible and appreciated contribution.
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