Kids with SPG47 HSP

Posted - February 2017 in HSPRF News

And parents taking on the challenge

 

 

Robbie and Molly meet up in Boston

 

Parents raising money for research

 

When Molly Duffy and Robbie Edwards, both 3, met in person for the first time at Boston Children’s Hospital in November, it was like they’d been best friends forever.

 

The tiny tots, who both have light brown hair, sparkling blue eyes and infectious, toothy grins, could pass for sisters. They both love listening to “Wheels on the Bus,” playing house in their miniature toy kitchen sets and spending time outside.

But another commonality unites the toddlers, who are the only known people in the country, and two of 11 in the entire world, diagnosed with an extremely rare disease called SPG-47 or hereditary spastic paraplegia type 47 that causes a decline in everyday cognitive and physical functions. Read more…

 

SOURCE: http://people.com/human-interest/toddler-best-friends-same-deadly-disease-parents-search-cure/

Toddler Best Friends Struggle with Same Disabling Disease as Parents Search for a Cure: ‘We’ll Never Give Up’

by Rose Minutaglio

 


 

Ethan

2 yr old Ethan from Georgetown, Texas

.

Parents raise awareness of gene testing

 

Ethan was diagnosed with SPG47 HSP just before last Christmas, more than two and a half years after he was born, having missed developmental milestones since he was two months old. His mother said “We just thought some kids are delayed and not everybody follows the same timeline so we thought at that point we were just getting some extra help for him.”

 

But that soon changed after an MRI showed damage to Ethan’s brain. The toddler was also not developing well. His head was small and he was eventually diagnosed with autism.

 

But with whole exome sequencing, genetic testing eventually revealed the SPG47 mutation with only a handful of other cases worldwide.

 

Currently, Ethan is in weekly occupational, speech and behavioral therapy sessions. He started occupational therapy at five-months-old.

Because the testing for Ethan’s gene has just started, doctors believe there are thousands of families affected and don’t know it yet. Ethan’s parents want to raise awareness about SPG47 and want other families with undiagnosed children to get genetic testing. Read more…

 

SOURCE: http://www.kvue.com/news/health/genetic-testing-reveals-rare-brain-disorder-for-georgetown-boy-2/384896540 6:51 PM. CST January 10, 2017

Genetic testing reveals rare brain disorder for Georgetown boy, 2

by Jenni Lee, KVUE

Add your comment on this story