I wasn't diagnosed with Downs syndrome until I turned 23 trends now
A woman from Michigan claims she was diagnosed with Down syndrome at the age of 23 despite not showing any obvious symptoms.
Ashley Zambelli was only given confirmation of the condition this February after undergoing genetic testing which revealed she has an extra chromosome.
She has a rarer form of Down syndrome that only affects two percent of patients and does not always lead to the physical symptoms that are synonymous with the condition.
Growing up, Ms Zambelli said she struggled academically at times and faced problems with knee dislocation, jaw issues affecting her movement, and a high heart rate.
But doctors never connected the issues until she became a mother to two daughters with Down syndrome.
Ashley Zambelli has been diagnosed with mosaic Down syndrome. In Down syndrome, every cell has an extra chromosome. But in mosaic Down syndrome, only some of the cells do. This means that sufferers may not have some of the symptoms typically associated with Down syndrome, such as a flattened face
Ms Zambelli is pictured above with her husband Taylor Doyle, 28, a restaurant worker. He is holding their eldest daughter Lilian, two, who has Down syndrome, their second child Evelyn, one, who does not have the condition. Ms Zambelli is holding their third child, Katherine, who was born in February and has the condition. Ms Zambelli also had a miscarriage in 2019, with that fetus diagnosed with Down syndrome as well
Ms Zambelli, a stay-at-home mother who lives in Macomb Township, outside Detroit, said: 'People say "you don’t look like you have it".
'Even I was in a lot of disbelief. I didn’t know about mosaic Down syndrome.
'A lot of people associate it as a facial disability. Having a mosaic condition means it is not always visible to the eye.'
Down syndrome is where a person has an extra chromosome. Chromosomes are small packages of genes in the body. They determine how a baby's body forms and functions as it grows during pregnancy and after birth.
While Down syndrome results in an extra copy of chromosome 21, people with mosaic Down syndrome have a mixture of cells. Some have two copies of chromosome 21, and some have three.
The more common form of the disease causes symptoms including a flattened face — especially around the nose — small ears and trouble with learning, communicating and heart problems.
In some cases, low muscle tone caused by the condition can also lead to regular limb dislocations because the muscles are not strong enough to keep the bones in place.
Mosaic Down syndrome is caused by a random event that happens days after the egg and sperm have joined together. As they divide, some cells receive an extra chromosome
