In June of 2005, Ramzi and Donna Khuri of North Brunswick saw their 18-month-old
son Peter reach a milestone that most parents take for granted.
For the first time, Peter was able to spend the entire day breathing on his own.
Born with a rare genetic disease that severely weakened the muscles throughout
his body, Peter had been connected to a ventilator 24 hours a day since
he was just 3 days old.
“The ventilator really limited him, so when we weaned him from it,
it was amazing. We were able to bring him out and do normal things, like
go to a restaurant, to the store or to the park,” Donna says. “Without
the ventilator, Peter became part of the world.”
The process of decreasing Peter’s dependency on the ventilator began
when the Khuris were referred to Sushmita Mikkilineni, MD, who is Director
of the Division of Pediatric Pulmonology at Children’s Hospital
of New Jersey (CHoNJ).
Dr. Mikkilineni had seen cases like Peter’s before, and despite his
challenges she felt he could improve. The Khuris began bringing Peter
to Dr. Mikkilineni every two months, and with her guidance they slowly
weaned him off the ventilator, at first during the daytime only and more
recently on a 24-hour basis.
Rare disorder affects muscles throughout body
Peter was born with X-linked myotubular myopathy (MTM), a muscle-wasting
disorder that only affects males and is passed on through the mother’s
genes. MTM is a structural defect in the skeletal muscles, so the body
is weak from head to toe. Consequently, children with this disorder often
need support to breathe and have difficulty swallowing and moving on their own.
Peter’s condition was apparent from the moment he was born. But MTM
is so rarely seen that Peter spent weeks in the neonatal intensive care
unit of a New York hospital before doctors were able to correctly identify
his disorder. He was transferred to a pediatric rehabilitation hospital,
where therapists helped to build up his strength and taught the Khuris
how to care for him at home.
When he was 7 months old, Peter was finally discharged home. It was then
that his parents were referred to Dr. Mikkilineni, and together they took
the next steps in Peter’s progress.
Partnership of parents and physician helps Peter
Now three years old, Peter is a bright child, his cognitive function apparently
not affected by MTM. He is able to stand and take steps with his walker,
and Donna observes that he’s recently begun to show small signs
of rebellion, which is reassuringly normal behavior for a pre-schooler.
Their local school district sends a teacher to the Khuris’ home
three days a week, and she is helping Peter get ready to start school
by incorporating more structure into his daily routine.
Peter still has the tracheostomy and feeding tube he’s had for nutritional
and breathing support since he was a newborn. The tracheostomy has impaired
his speech development, so Ramzi and Donna are now trying to teach him
sign language in addition to working on his verbal skills.
In the face of these challenges, the Khuris strive to do more than just
manage their son’s condition. They aim to maximize his abilities.
Encouraged by his successful separation from the ventilator, the Khuris
and Dr. Mikkilineni are now exploring the possibility of removing Peter’s
Although Dr. Mikkilineni specializes in pulmonary medicine, the Khuris
view her as their son’s “second primary physician” because
she is so involved in his total care and helps to coordinate his treatment
by other specialists.
“With Peter having such a rare disorder, we’ve always appreciated
that Dr. Mikkilineni was willing to take us on,” Donna says. “She
has experience, knowledge and confidence, and you can’t match that.”
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