Welcome to Joaquin’s Life – Emanuel Syndrome Warrior!

Emanuel Syndrome Diagnosis

Joaquin was diagnosed with Emanuel Syndrome at 4 years and 4 months old. Emanuel Syndrome is typically Emanuel Syndrome Ribbondiagnosed much earlier but because Joaquin didnโ€™t have any urgent medical needs (heart or kidney challenges) he was diagnosed at a much later age.

Hereโ€™s a little info aboutย ๐™€๐™ข๐™–๐™ฃ๐™ช๐™š๐™ก ๐™Ž๐™ฎ๐™ฃ๐™™๐™ง๐™ค๐™ข๐™š:

  • There is no cure.
  • ES is rare. Itโ€™s hard to know the exact number but likely 500-1,000 cases recorded worldwide.
  • ES is a chromosomal disorder that disrupts normal development & affects many parts of the body.
  • ES is caused by the presence of extra genetic material on chromosome 11 & chromosome 22 – the extra genetic material creates a 3rd chromosome on 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)ย 80-99% of individuals have global developmental delay.
  • Almost 80% are non-verbal.
  • Up to 79% have severe to profound intellectual disability.

As of Fall 2020 Joaquin is currently making GREAT progress! He is able to walk in a Nimbo Walker and can turn corners, back up and get out of tight spots. We are still working on getting in and out of his walker which will give him a lot more independence.

How Emanuel Syndrome Affects Joaquin

Joaquin’s Emanuel Syndrome comes with various delays (global developmental delays) and ย includes communication. Right now he is nonverbal, he’s working hard on nonverbal communication with an eye gaze communication device. He can shake his head no and can give us a big smile for yes!

Pre-Covid, Joaquin had five therapies per week in addition to four days of developmental preschool. Right now that is all on hold and we look forward to getting back to our busy schedule.

 

More Than a Label

Joaquin is so much more than any label or diagnosis. He LOVES books & stuffed animals! He has recently learned to isolate his thumb to work his iPad and he loves watching Cocomelon and Super Simple Songs. His smile will melt your heart, he’s empathetic, and his love for Daniel Tiger is unreal! Joaquin has so much going for him and we know that he’s going to do amazing things!

On this site, you’ll find Resources to help you in your own families journey. Advice on finding the best support. A blog to keep you posted on progress, there’s going to be a lot of progress!!!!

Thank you for being here and we hope you follow him on his journey as we have fun, cheer him on, celebrate every new milestone, and advocate for awareness, kindness, and inclusion! ๐Ÿ’™ย  #JoaquinsLife

Emanuel Syndrome – How Can You Help?

๐Ÿ’œ Learn More: EmanuelSyndrome.org
๐Ÿ’™ ๐—˜๐—ป๐—ฑ ๐˜๐—ต๐—ฒ “๐—ฅ” ๐—ช๐—ผ๐—ฟ๐—ฑ ๐Ÿ›‘!
๐Ÿ’œ Be Kind ๐ŸคŸ๐Ÿผ
๐Ÿ’™ Raise Kind Kids ๐Ÿ’œ๐Ÿ’™

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Meet Joaquin’s Team