A two-year boy who made a miraculous recovery after being born at 33 weeks now faces a major setback as a rare disorder threatens his life.
Jack Drury defied odds by leaving the hospital’s NICU just 17 days after his premature birth. His family are now braced to fight a new challenge after he was diagnosed with infantile neuroaxonal dystrophy.
‘I was having dreams of planning his funeral,’ his mother Kelsey, 34, told the New York Post.
Kelsey noticed his delayed motor skills at around eight months. Despite starting physical therapy, he made no progress.
The concerns heightened at around 18 months, when Jack could not walk or bear weight on his legs.
Kelsey used to call him ‘spaghetti man’ because he would collapse every time he attempted to stand.
After endless physical therapy and doctors visits, the New Jersey family was left in the dark for another six months when a lab lost Jack’s samples for his neurological genetic testing.
‘Some days filled with hope, others with really dark thoughts,’ said Tim Drury, Jack’s father.
his delayed milestones lead to the discovery of a rare degenerative nervous system disorder with an average life expectancy of just ten years
A month after his second birthday, Jack was diagnosed with INAD, a rare genetic disorder caused by a genetic mutation
A month after his second birthday, Jack was diagnosed with INAD, a rare genetic disorder caused by a genetic mutation.
Both parents pass a copy of the faulty PLA2G6 gene to the fetus. While carrier screening is available, it is complex because INAD is extremely rare.
It affects the nerve cell that carries messages from the brain to other parts of the body, according to the National institution of neurological disorders (NIH). There is no known cure or treatment to slow the disease.
A baby with INAD is alert and responsive for the first few years but starts to lose vision, muscular control, and mental skills over time.
Fewer than 250 kids worldwide have been diagnosed according to The National Organization for Rare disorders.
The rare diagnosis even stunned Jack’s pediatricians. ‘The neurologist who shared the genetic results with us admitted she hadn’t heard of it before,’ Tim told the NY Post.
The nonprofit INADcure Foundation is a glimmer of hope amidst the dreary disease.
It is one of the only organizations aiming for a potential treatment and cure, based right in their home state of New Jersey.
Fewer than 250 kids worldwide have been diagnosed according to The National Organization for Rare disorders
A baby with INAD is alert and responsive for the first few years but starts to lose vision, muscular control, and mental skills over time
The nonprofit has worked with scientists for years to develop a gene therapy treatment for a clinical trial.
The family created ‘Jack’s Miracle Mission’ to raise $450,000 – funds the foundation needed to pay the manufacturer- and are waiting on FDA approval to start the clinical trial.
Tim said the foundation has a goal to start early next year but there are only 10 spots available, so Jack’s place is not guaranteed.
‘Jack is one of the younger participants globally that they’re aware of, so I think there’s certainly potential that he’ll be part of this study,’ Tim told the NY Post.
The average treatment cost will equate to about $200,000 per child, Jack’s Miracle Mission is working to raise $2 million to cover the full cost
The average treatment cost will equate to about $200,000 per child. Jack’s Miracle Mission is working to raise $2 million to cover the full cost.
‘We all have a time that eventually ends,’ Tim said.
‘Jack’s might be shorter than most of ours, but I want to fill the time that he does have here with as much love and joy as I can possibly provide.’
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