Local boy to celebrate milestone birthday due to breakthrough medicine

Families with children with SMA have new hope

Families of children with a rare genetic disease that was typically fatal have new hope and its coming from right here in Cleveland.

Senior health correspondent Monica Robins has the story of encouraging progress for a little boy who was not expected to see his first birthday.

For the first five months of little Robbie Downings life, he was bale to move his arms and legs like any other baby.

Until one day, he stopped breathing at home and then very quickly, he lost everything.

Everything changed in a span of three weeks. 

Robbie was diagnosed with spinal muscular atrophy or SMA, a gentic disease that steals physical strength by afftecting nerve cells in the spinal cord.

Most often it is fatal.

According to Robbie's mom, most kids with SMA type 1 don't live past two years-old and at the rate he was going he probably wouldn't make it a couple more weeks.

The doctors told Robbie's parents to keep him comfortable and let him go. 

However, just two days before Christmas, a new drug, Spinraza hit the market.

The product gave Robbie's parents the gift of hope.

14 days ago Robbie had his first treatment at rainbow, delivered through a spinal tap.

Today, he recieved his second and now he can wave and give high-fives. 

Robbie's brain is keenly aware of what his body can't do. 

His mom says he knows he can't move so for him to watch himself move is really cool.

The drug has shown to slow or stop progression and return some function.

His family hopes to intervene now and prevent him from getting worse and hopefully make him better it's a miracle.

Parents, Katherine and Robert are looking forward to another milestone this week. 

Robbie will celebrate his first birthday Wednesday.

© 2017 WKYC-TV


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