Daniel & Lucas DeFabio

Daniel DeFabio didn’t have aspirations to work in the rare disease world. He was a successful video producer and director, with credits for American Cinematographer, PBS, major movie studios, TNT’s “The Closer” and HBO’s “Curb Your Enthusiasm”, among others.

But when his son Lucas was diagnosed with Menkes disease, he knew he could use his talents for more. Lucas was born premature, and the developmental delays that he experienced was attributed to his premature birth. At 9 months old, he started declining, such as not being able to roll over, and that’s when the DeFabios were advised to see a geneticist. The geneticist suspected copper deficiencies, and it could be one of two conditions. One had a better prognosis than the other. The diagnosis was Menkes, which was, of course, the less promising diagnosis.

All of the literature around Menkes disease gave a prognosis for 3 to 10 years. Being in the larger rare disease community helped Daniel realize that they had hope in the form of clinical trials, whereas many rare diseases have no hope for treatment or a cure. There are other families where the sons have Menkes aren’t allowed into the clinical trial, and at least Lucas had the clinical trial. 

In 2015, Daniel wrote a blog post that won a patient story award from Global Genes. For Daniel, the blog was a mix of journaling, ranting, and venting. 

Daniel shared: “Am I right or wrong to feel this way? You want to check yourself to feel okay. In rare disease space, everyone feels isolated. If you feel okay sharing your story, you don’t feel as isolated when someone responds and says, me too.” 

When the responses started pouring in, it helped him understand that there were others out there going through similar experiences in the rare community in general. He was then nominated as a Champion of Hope and went to the Patient Advocacy Summit in 2015. 

“Attending the Patient Advocacy Summit was a major pivot point in our life,” Daniel said. “It opened my eyes to the world of advocacy, and all of the different areas that I could have an impact in the rare community.”

Daniel used his skills as a video producer to create a 12-minute documentary about Menkes disease. One of the other interview subjects was also in upstate New York where Daniel was located, but Daniel knew he needed someone in another geographic area so people would know that this could affect anyone, regardless of location. Through the Facebook group for Menkes Foundation, he knew there was a family in Australia that was willing to be in the documentary. He connected with a filmmaker he knew that was going to Australia for another project, and asked him to shoot this interview as well. 

The film was well-received, and he found more places to share it, including starting DISORDER: The Rare Disease Film Festival. 

“Making the documentary, being involved with the Rare Disease Film Festival, working at Global Genes – that’s what I was meant to do to, to share what I can with this community, and to be an advocate.”

While Lucas passed away in June 2020 when he was just 11 years old, Daniel has remained in the rare disease community, now as the Director of Community Engagement for Global Genes. As for his experience as a parent of a child with a rare disease, Daniel feels that he still has a lot that he can contribute to the community.

“You always want to be the optimist,” Daniel shared. “Every birthday was a milestone. We were given 10 years, and we got to that. It was a triumph, and he beat those odds. Is this borrowed time now? How much closer are we to losing him?” 

Being an advocate for rare diseases provided Daniel with an opportunity to turn his experiences into a positive outcome. 

Daniel said: “Rare parents are faced with a terrible situation. Someone has to do something, and you realize that you have to do something. Unless you’re a scientist or a medical professional, I was doing what I could do. I couldn’t imagine doing nothing.”

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