A MUM who was diagnosed with Down’s syndrome aged 23 says people “don’t believe” she has the condition.
Ashley Zambelli discovered she has mosaic Down’s syndrome in February 2023 after undergoing genetic testing which revealed she has an extra chromosome.
SWNSAshley Zambelli was diagnosed with Down’s syndrome aged 23[/caption]
SWNSThe mum with husband Taylor and daughters Katherine, Evelyn and Lillian[/caption]
Growing up, she said she struggled with knee dislocation, jaw issues affecting her movement of it, and a high heart rate.
Doctors never connected the problems until they looked at her reproductive history.
They noticed three of her six pregnancies had a Down’s syndrome diagnosis which was unusual for someone so young, Ashley said.
Medics then carried out genetic tests and discovered she had mosaic Down’s syndrome, or mosaicism – a rare disorder that results in an extra copy of chromosome 21.
Ashley, a stay-at-home mum, from Macomb Township in Michigan, US, said: “People say ‘you don’t look like you have it’.
“Even I was in a lot of disbelief. I didn’t know it existed.
“A lot of people associate it as a facial disability but having a mosaic condition means it is not always visible to the eye.”
When Ashley was born, she didn’t have any traits associated with Down’s syndrome, she said.
But from the age of 12, her knee caps dislocated “all the time” and she struggled with comprehensive learning at school.
“Test taking was awful,” she said.
“I had jaw dysfunction, my knee caps were constantly dislocating and my shoulder was permanently out of the socket.
“My heart was also always racing. I was always getting out of breath.”
It took until she was 23 weeks pregnant with her third child, Katherine, who was diagnosed at 14 weeks, to connect the dots.
Ashley had previously had a miscarriage in 2019 and doctors had discovered the baby had Down’s syndrome.
She gave birth to her first child, Lilian, two, who also has Down’s syndrome, in December 2020.
Her second daughter, Evelyn, one, who was born in December 2021 doesn’t have the genetic condition.
Ashley said: “They hadn’t seen someone with three confirmed cases of Down syndrome.
“They said I was really young – so thought there must be something else causing this.”
Having mosaic Down’s syndrome gives her a 50 per cent chance of having children with an extra chromosome.
Ashley said: “I was very happy to find out.”
The mother-of-three – who doesn’t have the facial characteristics of someone with Down’s syndrome – now has an explanation for her problems.
She has lower sitting ears, low muscle tone, a jaw disorder, trouble with short term memory, and inappropriate sinus tachycardia – meaning she often has a heart rate higher than hundred beats per minute.
She said she often struggles to understand most humour and can say things without realising they might be offensive.
Ashley, who lives with her husband Taylor Doyle, 28, a restaurant worker, wants to encourage others to get genetic testing.
She said: “People need to not see it as a bad thing.
“It’s a tool to be prepared.”
She also hopes to create a community for people with mosaic Down’s syndrome.
SWNSAshley with Lillian, who has Down’s syndrome and was born in December 2020[/caption]
SWNSThe mum said people don’t believe she has the condition[/caption]
SWNSAshley, from Macomb Township in Michigan, US, as a one-year-old[/caption]
What is Down’s syndrome?
DOWN’S syndrome is when you’re born with an extra chromosome.
You usually get this by chance, because of a change in the sperm or egg before you’re born.
People with Down’s syndrome will have some level of learning disability – but some will be more independent than others.
In almost all cases, Down’s syndrome does not run in families.
Your chance of having a baby with the condition increases as you get older, but anyone can have a baby with it.
Mosaicism or mosaic Down’s syndrome is diagnosed when there is a mixture of two types of cells.
Some have the usual 46 chromosomes and some have 47.
Those cells with 47 chromosomes have an extra chromosome 21.
Mosaicism is usually described as a percentage. Typically, 20 different cells are analysed in a chromosome study.
A baby would be said to have mosaic Down’s syndrome if:
Five of the 20 cells have the typical number of 46 chromosomes
The other 15 have a total of 47 chromosomes due to an extra chromosome 21
Since the percentage of cells with an extra chromosome is 15 out of 20, the baby would have a level of mosaicism at 75 per cent.
Babies born with mosaic Down’s syndrome can have the same features and health problems as babies born with trisomy 21 or translocation Down syndrome.
However, it is possible that babies may have fewer characteristics of the syndrome than those with other types.
Source: NHS and Stanford Medicine