I wasn’t diagnosed with Downs syndrome until I turned 23
A Michigan woman claims she was diagnosed with Down syndrome at age 23 despite showing no obvious symptoms.
Ashley Zambelli only got confirmation of the condition in February after she had a genetic test that showed she has an extra chromosome.
She has a rarer form of Down syndrome that affects only two percent of patients and does not always lead to the physical symptoms synonymous with the condition.
Growing up, Ms. Zambelli said she sometimes had academic difficulties and had problems with knee dislocation, jaw problems affecting her movement and a high heart rate.
But doctors never linked the problems until she became a mother of two daughters with Down syndrome.
Ashley Zambelli has been diagnosed with mosaic Down syndrome. In Down syndrome, each cell has an extra chromosome. But in mosaic Down syndrome, only a few cells do. This means that patients may not have some of the symptoms typical of Down syndrome, such as a flattened face
Ms Zambelli is pictured above with husband Taylor Doyle, 28, a restaurant worker. He holds their eldest daughter Lilian, two, who has Down syndrome, their second child Evelyn, one, who does not have the condition. Mrs. Zambelli is holding their third child, Katherine, who was born in February and has the condition. Ms Zambelli also suffered a miscarriage in 2019, with that fetus also diagnosed with Down syndrome
Ms. Zambelli, a stay-at-home mom who lives in Macomb Township, outside of Detroit, said, “People say ‘you don’t look like you’ve got it’.
“Even I was in disbelief. I didn’t know about mosaic Down syndrome.
‘Many people associate it with a visual impairment. Having a mosaic condition means that it is not always visible to the eye.’
In Down syndrome, 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 most common form of the disease causes symptoms such as a flattened face – especially around the nose – small ears and difficulty 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 hold the bones in place.
Mosaic Down syndrome is caused by a random event that occurs days after the egg and sperm cell join together. As they divide, some cells gain an extra chromosome, while others gain the normal number.
People with mosaic Down syndrome often, but not always, have fewer Down syndrome symptoms because some cells are normal.
The International Mosaic Down Syndrome Association, based in Michigan, says, “Because a person with mosaic Down syndrome has a percentage of cells with the extra 21st chromosome associated with Down syndrome, individuals may display some or all of the physical characteristics associated become with Down syndrome. .
“In most cases, these individuals have fewer of these characteristics or are less conspicuously visible.”
They add, “It’s important to remember that the general population can exhibit these kinds of characteristics.”
They are also less likely to experience other signs of the condition, such as difficulty learning or understanding others.
Ms Zambelli said she had no warning signs of the condition in her early life.
But after she turned 12, her kneecaps started to dislocate “all the time,” and she said she also started having trouble learning at school.
She said, “Taking tests was terrible.
“I had jaw dysfunction and my kneecaps were constantly dislocating. My shoulder was permanently dislocated.
“My heart was always pounding. I always got out of breath.’
In the photos above, Ms. Zambelli can be seen at the age of one (left) and two (right). She said she didn’t have symptoms of the condition until she turned 12 and her knee began to dislocate regularly
Mrs. Zambelli is pictured above (left and right). On the right she holds her youngest child Katherine, born in February this year, who has Down syndrome
Doctors were never able to connect the dots about her health issues until she was 23 weeks pregnant with her third child, Katherine, in February 2023, who was diagnosed with Down syndrome at 14 weeks.
Ms Zambelli had previously suffered a miscarriage in 2019 and doctors had discovered the baby had Down syndrome.
She gave birth to her first child, Lilian, two, in December 2020, who also has Down syndrome.
Her second daughter, Evelyn, one, who was born in December 2021, does not have the genetic condition.
The doctors noted that it was unusual for someone to have three pregnancies that resulted in a diagnosis of Down syndrome.
This led to genetic testing that confirmed she had the condition.
Mosaic Down syndrome increases the risk of having a baby with Down syndrome by 50 percent, doctors say.
Her husband, Taylor Doyle, 28, a restaurant worker, supported Ms Zambelli to undergo the genetic testing.
Mrs. Zambelli now has an explanation for her problems.
She has lower-set ears, low muscle tone, jaw disorder, short-term memory problems, and inappropriate sinus tachycardia, which means she often has a heart rate of more than 100 beats per minute.
Ms. Zambelli said she often struggles to understand most humor and can say things without realizing they could be offensive.
Ms. Zambelli wants to encourage others to undergo genetic testing and see it as a “preparation tool.”
She said, “People shouldn’t see genetic testing as a bad thing.
“It’s a tool to be prepared.”
She also hopes to create a community for people with Down mosaic syndrome.