HEALTH

‘We’re grieving for a loss before it’s happened’: Parents of boys with terminal copper deficiency that will cripple their brains before they reach 10 describe the agony of raising a child with an incurable disease

The father of an eight-year-old boy with a terminal copper deficiency has created a heart-wrenching documentary to shed light on the painful, rare condition – and the agony of raising a child with an incurable disease.

After Daniel DeFabio’s son Lucas was diagnosed with a fatal disease called Menkes, which doctors know very little about, DeFabio and his wife Tina felt their world fall apart.

Menkes affects only one in 100,000 children in the US, and it causes them to have copper deficiencies, which means their brains and muscles do not develop properly. And Menkes patients typically die before the age of 10.

Once his family had processed the weight of Lucas’s diagnosis, DeFabio decided to make a movie to highlight the isolation that the few parents who have children with Menkes feel.

DeFabio speaks about the heartbreak that his and other families – who have been been united by DeFabio’s project – have gone through because their children have been given what he describes as a ‘death sentence’.

He also talks about his never-ending mission to convince researchers to find a cure for Menkes and the difficulties of caring for a disabled child who requires round-the-clock medical attention and supervision.

DeFabio’s hope is that his 11-minute film reminds families with children with Menkes that they are not alone and that it moves the medical community to find a cure for Lucas’s disease. 

WHAT IS MENKES DISEASE?

Menkes Disease is caused by a gene mutation that messes up the body’s process of making a protein that regulates copper levels.

It causes children’s hair, brain and muscle growth to be impaired. Because of this, children with the disease typically have sparse, brittle hair, so the disease is also known as Kinky Hair Syndrome.

Symptoms of the disease include seizures, low body weight, sagging facial features, kinky hair and intellectual disability. Children who have the disease are typically diagnosed as infants and many die before their tenth birthday.

There is no cure for Menkes, but there is a treatment, which consists of daily copper injections, that helps some children.

However, if children with the disease do not receive the treatment before they are 10 days old, the treatment is ineffective most of the time. And because the disease is so rare, nurses and doctors rarely know to check for it in newborns.

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