Credits: Reproduction/Instagram/ashley_zambelli/
Young man contracted Down Syndrome after giving birth to two daughters with the condition
Ashley Zambelli from Michigan, USA, challenges stereotypes and misconceptions about Down Syndrome. She only found out she had the condition at the age of 23, after becoming pregnant with her third child with the gene mutation.
The young woman has three daughters, two with the syndrome, one without and one pregnancy loss, but they also tested positive for trisomy 21 the socalled Down syndrome.
@ashleyzambelli
In reply to @Crashgirl98 #mosaicdownsyndrome #downsyndrome #trisomy21 #extrachromiehomie #theluckyfew #ndss #genetictesting #mamasoftiktok
♬ Original sound Ashley Zambelli
The type of Down syndrome Ashley suffers from is Mosaic (or Mosaic Down Syndrome), a rare genetic condition that occurs in just over 1% of cases and causes the person to have the typical facial features that associated with the syndrome.
Mosaic Down Syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. Unlike traditional Down syndrome, individuals with mosaic Down syndrome have few cells in the body with the extra copy of chromosome 21, while other cells have the usual number of chromosomes.
The diagnosis was only discovered after he had three daughters who suffered from the condition, which was unusual for someone his age.
The discovery explained some of Ashley’s health issues. She now understands why she was born with ears under her eyes, jaw problems and a fast heart rate. All this is related to the genetic disease.
Common symptoms of Down syndrome
Some features of mosaicism are identical to those of traditional Down syndrome, such as:
- delays in development;
- delays in speaking or functional communication;
- difficulties in learning;
- Associated Intellectual Disability;
- tongue displacement;
- Obesity;
- vision problems;
- reflux;
- Sleep disorders.