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.
Lucas DeFabio (left) is pictured here with his father Daniel DeFabio (right) in 2015. Lucas has a rare, terminal illness called Menkes Disease. This photo is from a film that his father made about the illness called Menkes Disease: Finding Help & Hope
In the film, parents spoke about the hardships that come with caring for a disabled child. One such parent was Lucas’s mother, Tina DeFabio, pictured here with her son
LUCAS DEFABIO’S DIAGNOSIS
Children with Menkes Disease usually die before the age of 10. Lucas will turn nine this coming December
DeFabio and Tina did not know about Menkes Disease before Lucas was diagnosed with it as a one year old.
‘We’d never heard of it before,’ he said. But, like many parents who have a child with a rare disease, he learned much about it very quickly. He added: ‘You suddenly become experts.’
The New York father-of-two was heartbroken when he was told about Lucas’s terminal diagnosis. ‘It sounds like a death sentence for your child,’ he said.
‘You’re grieving for a loss that hasn’t happened yet.’
After processing his son’s fate, though, DeFabio, who works in movie marketing and film making, turned the isolation that his family initially felt as a result of Lucas’s diagnosis into action.
His family joined an online support group and got to know other families who were caring for a loved one with the disease.
This is how he came to know David Perry and Tamara Murdoch, two parents featured in his short film, which he created in 2015.
DeFabio made the film with the hopes of spreading awareness of Menkes, since, had he known about the treatment his son should have received in his first ten days, his family’s life would look drastically different today.
‘There’s a very tight time table. [But] it can save their life and give them a more typical developmental path,’ DeFabio said. ‘People need to be more aware.’
‘While we don’t have a cure, we do have a treatment, if you’re aware in time,’ he added.
His goal is to ‘get more information out there to more people’ so that early detection of the disease can be more commonplace.
And he hopes his film making efforts will encourage people and institutions to raise funds for a cure for Menkes.
The film has been used by the Menkes Foundation, which promotes Menkes research, and it has helped them convince institutions of the need for a cure.
‘They’ve been able to push the science,’ DeFabio said about the Menkes Foundation.
And their push for a cure has made headway: a neonatal screening for the disease has recently been approved. ‘A year ago we didn’t have that,’ DeFabio said.
Another reason that he created the film was to spread a message of hope to families whose children are diagnosed with Menkes.
DeFabio said that when Lucas was diagnosed, he did not fully process what this meant for his family because of the constant stream of dire statistics and facts that were thrown at him.
‘When you get the diagnosis and Google it, all of the information is very bad news,’ he explained. ‘Your child is headed down a path that no one wants.’
He hoped that his film, which tells the stories of three families who have kids with Menkes Disease, would inspire other families who might be dealing with ‘isolation or loneliness’ because of a similar diagnosis.
Lucas’s parents were initially overwhelmed when they learned about their son’s rare illness, but they have since adapted to the lifestyle that comes with it, which includes frequent doctors appointments
Daniel DeFabio (left), pictured here with his wife Tina and two sons Lucas (left) and Alex (right), said that Lucas’s illness has taught his family much about what it means to be happy and that he has learned to focus on being present since he does not know how much time he will have with Lucas
COPING WITH LUCAS’S ILLNESS TODAY
Since Lucas’s diagnosis, the DeFabios have adapted to the lifestyle that being a parent of a disabled child requires.
Lucas’s mother, Tina, talked about this process in her husband’s documentary.
She said: ‘When we first received the diagnosis, I thought: “I don’t know how we can ever be happy again.” But after a tough period of adjusting expectations, I can honestly say now that he brings us so much more joy than pain.’
Her husband echoed this feeling and said that Lucas’s illness eventually taught him the meaning of cliche sayings, such as ‘live for today’ and ‘stay in the moment’.
‘All of a sudden, those things matter more to us,’ DeFabio said. ‘We don’t get to plan the next year.’
DeFabio added that Lucas’s life is ‘very full of joy and happiness’. Lucas is happiest when his mother, father and younger brother Alex are all paying attention to him and showing him affection, his father said.
‘He has simple needs. It refocuses each of us on what it takes to be happy.’
HOW DEFABIO’S FILM BROUGHT TOGETHER FAMILIES WITH CHILDREN WHO HAVE RARE, TERMINAL DISEASES
Tamara Murdoch, whose son, Miles, has Menkes Disease, was interviewed for DeFabio’s documentary. She talked about the shock that came with her son’s diagnosis and her frustration with doctors who did not seem to care
The two other families featured in DeFabio’s film spoke about the difficulties of caring for children with rare, demanding diseases.
Tamara Murdoch, a mother from Australia whose son Miles has Menkes, talked about how it is frustrating when some doctors are of no help to her and her family in DeFabio’s film.
‘The doctors I respect are the ones that say: “Look, we don’t know, but we’ll find out,’ Murdoch said.
DeFabio hired another film crew to work with Tamara and Miles since they were so far away and he described Tamara as a ‘vocal advocate for Menkes Disease’.
The other father featured in his documentary, David Perry, was located much more conveniently: in the same state as DeFabio. ‘It was easy for me to get to them,’ DeFabio said.
Graydon Perry, who lives in New York State, also has Menkes Disease and was featured in DeFabio’s film
Perry also said that dealing with doctors has proven challenging since his son Graydon’s Menkes diagnosis.
‘They don’t know what to do basically,’ Perry said in the film.
After DeFabio created Menkes Disease: Finding Help & Hope, he met another father of a child with a rare disease, named Bo Bigelow, at an advocacy conference.
Bigelow’s daughter, Tess, has an extremely rare developmental disease that is caused by a genetic mutation.
Tess Bigelow has a rare gene mutation that has not been named
‘It happens to be so rare that it doesn’t have a name yet,’ DeFabio said about Tess’s disease, which affects the USP7 gene.
Little is known about Tess’s genetic mutation, but, after Bigelow found out which gene of Tess’s was mutated, he did his research and became connected to a handful of other families around the world whose children have USP7 mutations.
Bigelow has made a film called ‘Tess Is Not Alone’ because when Tess’s parents originally learned of her rare diagnosis they were worried she was the only one in the world that had it.
Bigelow and DeFabio began working together to find ways to spread awareness of and raise funds for their children’s diseases.
The pair wanted to create an event that was inexpensive and mainstream but that attracted the attention of medical researchers and doctors.
DeFabio said that the pair asked: ‘Is there a way to have the best of both?’
They decided on a film festival that features only movies about rare diseases because it would attract their target audience but would not break the bank the way medical conferences can.
The festival is called Disorder: The Rare Diseases Film Festival, and will take place on October 2-3 in Boston. It will also feature talks by patient advocates and rare disease researchers.
Disorder has 11 sponsors, more than half of which are pharmaceutical companies that have an interest in finding a cure for diseases that plague children such as Lucas, Graydon, Miles and Tess.