Ashley Zambelli is a Michigan girl who was diagnosed with Down syndrome when she was 23 years old. He did not show any obvious symptoms typical of this condition. Now, Ashley took to Instagram to tell people more about her unusual case, warning about some of the symptoms that could point to the condition.
Ashley didn’t discover her condition when she was a child.
Ashley Zambelli took to her Instagram to tell her followers about something shocking case What she experienced recently. After some genetic testing, his special condition was confirmed this February. She was found to have an extra chromosome.
Ashley has a rare form of Down syndrome. It only affects 2% of patients and do not always show physical symptoms associated with the condition.
Ashley said When she was growing up, she sometimes struggled academically and had problems with her knee dislocation, jaw problems that affected her ability to move, and a high heart rate.
But doctors didn’t connect the symptoms until she became a mother to two daughters with Down syndrome.
The girl did not even suspect that she had Down syndrome.
“A lot of people associate it with a facial disability. It’s not always visible in the mosaic state.” He says Ashley.
She had a rare form of the condition known as “mosaic Down syndrome”.
Down syndrome is an extra Copy Chromosome 21, but people Mosaic Down syndrome Consists of a mixture of cells. Some people have two copies of chromosome 21, some have one 3.
The most common form of Down syndrome has visible symptoms such as a flat face, especially around the nose. People with this condition may have small ears and problems learning and communicating. Heart problems are also associated with this condition.
People with mosaic Down syndrome often, but not in 100% of cases, have fewer symptoms of Down syndrome because some of their cells are “normal”.
Ashley listed the symptoms of her condition, but she did not think of such a diagnosis.
Ashley He says Usually, she has no warning signs of this condition in her early life. But after the girl turned 12, her knees began to give out and she too began to struggle in school.
She says, “Taking the test was awful. My jaw was paralyzed and my knee caps kept dislocating. My shoulder was permanently out of socket. My heart was always pounding. I was constantly out of breath.
In 2019, Ashley suffered a miscarriage and doctors discovered that the unborn child had Down syndrome. The woman later gave birth to her first child, Lillian, who also has Down syndrome. His second daughter Evelyn did not have this condition.
After done A genetic test, Ashley now has an explanation for her problems.
She has symptoms such as drooping ears, memory loss, low muscle tone and a jaw disorder. The woman said she had difficulty understanding jokes and could tell they were being rude without even realizing it.
Ms Zambelli wants to encourage others to get genetic testing and says, “People shouldn’t see genetic testing as a bad thing. It is a tool that needs to be made.
Here’s another interesting read about a child who defied doctors for 20 years with his rare disorder.
