SSADH Is Rare, and Often Misdiagnosed as Autism
By Hillary Copsey
The Winchester Star
A Frederick County child
is one of just 350 people worldwide dealing with succinic
semialdehyde dehydrogenase deficiency.
Derek Staubs, 7, was diagnosed with the disorder five years ago.
He is the son of Rick and Joann Staubs of Shawneeland.
Doctors first diagnosed SSADH in 1981. It is a rare, genetic
disorder that impairs inner-brain communication.
It often is misdiagnosed as autism because of similar symptoms,
including impaired language and motor skills and low muscle tone.
At one time, I could have taken an autism symptoms list and
checked every one, Joann Staubs said.
The chemical gamma hydroxy butrate (GHB) acts in the brain as a
stopping mechanism.
It inhibits the brain from too much excitement, said Dr. Philip
Pearl, associate professor of pediatrics and neurology at Children's
National Medical Center. He is one of the doctors who has treated
Derek.
SSADH patients lack the chemical that breaks down GHB, resulting
in a GHB overload.
Its almost like the brakes are always on and you just cant
go, Pearl said.
But it is important to understand that those brakes stop activity
in the brain, not activity in the person as a whole.
Like Derek, most children and adults with SSADH are extremely
hyperactive and have difficulty concentrating.
The oldest known person to have SSADH is a 21-year-old man.
Parents of young children with SSADH have no idea what to expect.
The 21-year-old actually was diagnosed after Derek.
Were the guinea pigs of this disorder, Rick Staubs said.
SSADH shows up in children with two parents who carry the
abnormal gene. It was first diagnosed in Middle Eastern countries
where marriage between first cousins is common.
It is possible that with extra work, SSADH children could lead
self-sufficient lives.
Derek has progressed during the past year with education and
extra help from his parents.
But it is also possible that the childrens symptoms will worsen
with age. |