Tom and Wendy Kelly realized that their young son, Jackson, wasn't able to go up and down stairs like most children and that he had an odd gait when he ran.
The Kellys, Garrett, already had a therapist coming to their home because her son by her first marriage has high functioning autism. The therapist thought Jackson could need physical therapy, so he started that. After a few months, the physical therapist suggested that they get a diagnosis. Jackson was taken to Children's Hospital of Pittsburgh, where blood work for protein levels and genetic testing was done. The diagnosis was made in April. Jackson, now 4, has Duchenne muscular dystrophy.
"We were floored," Wendy said. "We were chasing him around. He's been a normal kid. So we said, 'What do we do? Give him a pill?' And the doctor said you don't understand the ramifications. It was the shock of our lives."
Duchenne muscular dystrophy is the most common form of muscular dystrophy in children. Almost all Duchenne patients are boys. It appears between the ages of 2 and 6. The muscles decrease in size and grow weaker. Many boys with Duchenne need a wheelchair before the age of 12. Those with Duchenne usually die in their late teens or early 20s. It is so rare that Children's Hospital is only caring for 90 boys from several surrounding states.
Muscular dystrophy, and there are multiple kinds, is caused by defects in certain genes. In Duchenne muscular dystrophy the muscle protein dystrophin is not being produced. While most of the muscular dystrophies are genetic diseases that mothers can transmit to their sons, Wendy was tested along with Jackson's grandmothers. None has the defect. In Jackson it occurred because of a new gene abnormality or mutation.
"We prayed so hard," Wendy said. "We looked for a glimmer of hope."
They found one. Two drugs for Duchenne muscular dystrophy are in the human trial stages. Jackson may qualify for one trial after he has been on steroids for at least six months and after he turns 5. The Kellys are hoping that the researchers will still need children for the trial by then. If not, they hope that the drug will be approved by the Food and Drug Administration in 2014.
Genes are divided into sections called exons and introns. Exons are the sections that code for the protein. In Duchenne muscular dystrophy exon 50 is deleted. Exon 49 cannot join with exon 51, so the dystrophin protein isn't produced. The drugs being tested would "patch" the exons, allowing them to join. It is thought that the drug would be able to treat around 83 percent of the genetic errors.
"It would make the protein functional," Tom Kelly said. "It will help maintain him, but won't bring back function that he has lost. It would be as if he had Becker muscular dystrophy, which is similar to Duchenne but much milder."
"We don't care if he is in a wheelchair, so long as we have him," Wendy said.