DADADEL
Down Syndrome took Ashley Zambelli by surprise when she was 23, as she displayed no typical symptoms. Now, she’s using Instagram to share her unique story and educate others on potential indicators of this condition.
The woman didn’t discover her condition during infancy.
On Instagram, Ashley Zambelli shared a recent and astonishing personal revelation. Following genetic testing this February, she received confirmation of her unique condition: she possesses an additional chromosome.
Ashley’s condition is an uncommon variant of Down syndrome, afflicting only 2% of individuals, and it often presents without the typical physical characteristics associated with the syndrome.
While Ashley was growing up, she faced academic challenges and also grappled with physical issues such as knee dislocation, jaw problems that restricted her mobility, and a persistently high heart rate.
However, it wasn’t until she became a mother to two daughters with Down syndrome that doctors finally made the connections between her symptoms.
She had no inkling that she had 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,” says Ashley.
As it happened, she was diagnosed with a less common variant of the condition known as “Mosaic Down syndrome.” Down syndrome results from an additional chromosome 21, while mosaic Down syndrome arises from a blend of cells. In some cases, individuals possess two copies of chromosome 21, while others may have three.
Down syndrome typically presents with observable characteristics, including a flattened facial appearance, particularly around the nose. Individuals with this condition may also exhibit smaller ears and difficulties in learning and communication, along with a potential for heart-related issues.
In the case of mosaic Down syndrome, not all individuals necessarily display the full spectrum of Down syndrome symptoms, as some of their cells remain “normal.”
Ashley Zambelli details the symptoms she had been encountering, never once considering such a diagnosis.
Ashley mentions that, during her early life, there were no apparent indicators of the condition. However, once she reached the age of 12, she experienced dislocating kneecaps and encountered difficulties with her schoolwork.
She said: “Test taking was awful. I had jaw dysfunction and my kneecaps were constantly dislocating. My shoulder was permanently out of the socket. My heart was always racing. I was always getting out of breath.”
In 2019, Ashley experienced a miscarriage, during which doctors determined that the unborn baby had Down syndrome. Despite this, she went on to give birth to her first child, Lilian, who also has Down syndrome. However, her second daughter, Evelyn, was born without this condition.
Following a genetic test, Ashley finally has answers for her challenges. These include symptoms like ears positioned lower, memory difficulties, reduced muscle tone, and a jaw disorder. Additionally, she often finds it challenging to grasp humor and occasionally unintentionally makes potentially rude remarks.
Ms. Zambelli aims to inspire others to undergo genetic testing, emphasizing that “people need to not see genetic testing as a bad thing. It’s a tool to be prepared.”
