Boy has rare disease SPG47 only affecting 20 in the world

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The parents of a three-year-old boy are desperately searching for a cure after their son was diagnosed with a rare genetic disease that is only known to affect 20 people in the world.

Ethan Rosenberg was born with spastic paraplegia 47 (SPG47) a neurodegenerative disorder causing malformation of the brain that has left him unable to talk and with severe motor development. 

The disease is classified as ‘ultra-rare’ as it was first diagnosed in 2011 making Ethan the only person in his home state of Texas to have this disorder and one of six in the US.

Now the boy and his family raising money to fund research for the cure that can save the use of his legs as doctors predict he will lose the ability to walk by the age of 10.

Ethan’s parents Suchan and Matthew Rosenberg noticed that their son had failed to reach his milestones at two and four months old.

Then, at 10 months old, he began having breath-holding spells that turned him blue and landed the boy in the emergency room. 

Eventually an MRI revealed a brain bleed along with other damage and by one year his head stopped growing, diagnosed as microrocephaly.

At 22 months old, doctors told the Rosenberg’s their son was autistic and they put Ethan in speech and physical therapy. 

‘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,’ Suchan, who works in mortgage compliance, told KVUE.

However, by two years old Ethan still wasn’t walking or talking, prompting the couple to sign up for a study at Columbia University Medical Center.

It was there that a DNA sample from both parents determined that Ethan had spastic paraplegia 47 (SPG47) in December 2016.

The condition resembles cerebral palsy in that it causes severe, progressive spasticity and muscle weakness, especially in the lower limbs, and restricts motor and speech development. 

This disease is extremely rare and was only first recognized in 2011, so life expectancy is still unclear although some patients have reached their early 20s. 

Children with the condition often lose their ability to walk independently, becoming wheelchair-bound before their teen years.  

Ethan’s condition was caused by an abnormal gene that was passed down by both parents.

He entered full-time therapy last year and has since learned to walk but still does not talk.

His mother told the local news station that he loves to jump on a trampoline, enjoys being read books and playing with cars.

‘For him, I want him to keep all of the skills that he’s learned and I want him to keep walking and I hope to see him running one day and climbing a tree and learning words,’ said Suchan.

However, he could lose all of his progress if a cure is not found by the time the brain disorder takes over his legs. 

The family from Georgetown, Texas, has been involved with the nonprofit organization Cure SPG47 to raise money for a cure.

It has raised $450,000 in one year and there is now an anonymous match of up to $100,000 for every dollar raised until January 31. 

They have also created a GoFundMe that will fund research by two teams working to find a cure.

The organization’s website says: ‘Dr Darius Ebrahimi-Fakhari of Boston Children’s Hospital is pursuing a drug screening experiment on fibroblasts derived from SPG47 patients. The process begins with obtaining skin cells from the patient and the same gender parent. The goal of the project is to test whether various compounds which are FDA-approved for other disorders might offer some benefit to the cells affected by SPG47.’

Doctors believe that there could be many more patients who have this disease but may be misdiagnosed with cerebral palsy because they share similar symptoms.

Ethan will start horseback riding therapy this month to help with balance but his parents are hoping for a cure soon so his progress doesn’t begin to decline.

‘We don’t know if he’ll cognitively start to decline but that’s a prediction, so our main focus is just to make sure that we can raise awareness and funding so that these doctors can find a treatment to help halt the progression since it is degenerative,’ Suchan said.

 

 

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