Genetics Testing Results – Emanuel Syndrome

Genetics Testing Results – Emanuel Syndrome

Genetics results are in and just like everyone suspected, Joaquin is a very unique guy!! Joaquin has a rare genetics condition called Emanuel Syndrome. If you havenโ€™t heard of it, you are not alone! The numbers are hard to find but from what our research tells us there are less than 500 recorded cases WORLDWIDE ๐Ÿ˜ณ. There are probably more cases that are undiagnosed (or misdiagnosed) but because of the lack of awareness, itโ€™s hard to find the exact number.

So what is Emanuel Syndrome?

Here are some things we have learned:
  • Itโ€™s a chromosomal disorder that disrupts normal development & affects many parts of the body.
  • Itโ€™s caused by the presence of extra genetic material from chromosome 11 & chromosome 22.
  • Individuals with ES have low muscle tone (hypotonia) & fail to gain weight & grow at the expected rate (failure to thrive).
  • ES comes with distinctive facial features (dysmorphic facial features)
  • 80-99% have global developmental delay.
  • Almost 80% do not learn to talk.
  • 30 – 79% have severe to profound intellectual disability.
  • Kiddos are known to have heart defects and/or kidney problems
  • Most kids with ES will learn to walk with a walker or limited support.

As of now nothing will change for Joaquin, he already has THE MOST AMAZING team ๐Ÿ™๐Ÿปโ™ฅ๏ธ

There is still so much we need to learn about Emanuel Syndrome but thankfully we have already met some fantastic people all over the world that have been so helpful and supportive! Thank you to everyone that is always cheering Joaquin on, we appreciate you all more than you know โค๏ธŽ

To learn more: ๐Ÿ’™๐Ÿ’œ

Genetic Testing Emanuel Syndrome

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