A 23-year-old woman in Britain was left heartbroken when she learned she had Down syndrome. Ashley Zambelli lived 23 years of her life unaware of the disease. In February 2023, he was diagnosed with Down syndrome after genetic testing. Ashley says, as I got older, I used to feel as if there was a problem with my knees, my jaw was a little crooked, my movements were sometimes interrupted and my heart rate was high, but I never knew why. I found out that I am a victim of Down syndrome.

Down syndrome is a genetic condition in which a person is born with an extra copy of chromosome 21. This means that they have a total of 47 chromosomes instead of 46. This can affect their brain and body development. Many people may also have problems with normal activities of life, such as walking, due to this.

Even the family members did not know about the problem
Surprisingly, even the doctors never realized this problem. This was discovered when Ashley's reproductive history was looked at during her pregnancy. It turned out that Ashley had six pregnancies, three of which had problems with Down syndrome. Genetic testing revealed that he had mosaic Down syndrome.

Ashley's mother says when she was born she had no signs of Down syndrome. By the age of 12, her kneecaps were often dislocated. The shoulder was also permanently out of the socket. The heart always kept beating, the breath always used to swell.

Let us know what is this problem after all.
Know about the problem of Down syndrome
Down syndrome can affect anyone. It is a genetic condition. Research continues to learn more about the risk factors for Down syndrome. Studies suggest that as the age of the parents increases, the risk of giving birth to a child with Down syndrome may increase.

Down syndrome is the most common type of chromosomal disorder in the United States. It is estimated that about 6,000 babies are born with this problem each year in the US, which is about 1 out of every 700 babies. About two million people in the US suffer from Down syndrome.

What are the symptoms of Down syndrome?
Down syndrome causes physical, cognitive, and behavioral problems. The physical symptoms of Down syndrome are usually present at birth and become more pronounced as the child grows. It may have a flat nose, slanted eyes, short neck, small ears, hands, and feet. Apart from this, some symptoms should also be taken care of.
Weak muscle tone at birth.
Below average height
Ear infection or loss of hearing.
Vision problems or eye diseases.
Dental problem.
Being more prone to infections or diseases.
Congenital heart disease.

What is Mosaic Down Syndrome as detected in Ashley?
Mosaic Down syndrome is the rarest type of Down syndrome and accounts for only one percent of all cases. Medical reports suggest that you may not necessarily see obvious symptoms. This is the reason why it took 23 years for Ashley to be diagnosed with the disease. Health experts say everyone must check for symptoms in children.

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