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Parents of son diagnosed with crippling disease fight for mandatory genetic screening

The parents of a toddler diagnosed with a crippling disease that means he may never walk are calling for mandatory genetic screenings after learning his condition could have been spotted when he was a newborn.

Shane Phillips, of Haddon Heights, New Jersey, was diagnosed at 10 months old with Spinal Muscular Atrophy, a disease which weakens the physical muscles.  

Those affected never gain, or may lose, the ability to walk, eat, or breathe – and it the number one genetic cause of death for infants.

His parents, Chris and Regina, discovered that he could have been screened shortly after being born, and then started on treatment before his symptoms developed.

Only five states regularly screen babies for the disease, but the family is lobbying for a bill currently being reviewed by a New Jersey state senate committee, reported Good Morning America. 

Shane Philipps, 17 months, from Haddon Heights, New Jersey, lost the ability to kick his legs, lift his arms and roll over. Pictured: Shane, center, with his parents 

Rhe family was referred to a specialist who diagnosed Shane (pictured) at 10 months old with Spinal Muscular Atrophy

SMA is a genetic disease that weakens the physical muscles. Pictured; Shane

The family was referred to a specialist who diagnosed Shane (left and right) at 10 months old with Spinal Muscular Atrophy. SMA is a genetic disease that weakens the physical muscles

Shane was born happy and healthy, and was hitting every developmental milestone.

But, at six months old, he suddenly wasn’t able to kick his legs or lift his arms up.  

Chris and Regina, who were new parents, were told not to worry and that their son would eventually catch up.  

But things slowly took a turn for the worse. Shane lost the ability to roll over and hold his head up, and therapy wasn’t working, reported Good Morning America.

The Philipps family was eventually referred to a specialist, who diagnosed Shane with SMA. 

‘It’s crazy that you can have a disease that presents totally normal for the first six months of your baby’s life,’  Regina, told Good Morning America.  

SMA is a neuromuscular disease which affects the part of the nervous system that controls voluntary muscle movement and weakens them. 

 [If he had been screened], his outcome would basically be a normal life. Now, we just don’t know what his life will be like.

Regina Philipps, Shane’s mother 

The muscle doesn’t receive the signals to move and a person affected with SMA can’t execute the commands.

SMA comes in four types. Shane’s type – which is Type 2, or intermediate – has its onset between the ages of seven months and 18 months and before the child can stand or walk independently.   

Those affected either never gain or lose the ability to walk, eat, or breathe.

It affects about one in 1 in 10,000 births in the US, according to the National Organization for Rare Disorders.

Doctors determined that Shane will probably never walk.

His mother, Regina, told Good Morning America that had he been diagnosed as a newborn, he could have been treated before his symptoms began.

‘His outcome would basically be a normal life,’ she said. ‘Now, we just don’t know what his life will be like.’   

Doctors say that it is likely Shane will never walk. Pictured: Shane (right) with his parents

Doctors say that it is likely Shane will never walk. Pictured: Shane (right) with his parents 

Shane's parents learned that a genetic screening as a newborn could have started him on treatment much sooner. Pictured: Shane

They are now fighting for mandatory screenings in New Jersey, and a bill is currently being reviewed by state senate committee. Pictured: Shane

Shane’s parents learned that a genetic screening as a newborn could have started him on treatment much sooner. They are now fighting for mandatory screenings in New Jersey, and a bill is currently being reviewed by state senate committee. Pictured, left and right: Shane

Now the family is lobbying to make SMA genetic screening standard for all newborns.

‘I walked around after the diagnosis crying for like three days and I figured that wasn’t helping anyone, so I better do something,’ Regina said. 

‘I feel like we wouldn’t have these treatments now if we didn’t have other mothers, fathers and families fighting even if it was too late for their own kids.’   

Currently, five states – Missouri, Minnesota, New York, Pennsylvania and Utah – screen babies regularly for SMA, according to the nonprofit organization CureSMA. 

Another 13 have either passed laws mandating the screening or are in the process of doing so.

New Jersey, the Philippses’ home state is not one of them, but a new bill is reportedly being reviewed by a state senate committee. 

‘Even though we can’t go back in time and change the course of Shane’s future or get him screened, we still have to do that for other families so they don’t have to go through what we go through,’ Regina told Good Morning America. 

Read more at DailyMail.co.uk


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