ONCE UPON A GENE - EPISODE 015 - Films and Fatherhood
Daniel DeFabio is joining us today to share his experience and perspective as a father of a son with a rare disease called Menkes. Daniel is a contributing author to The Mighty and the Co-Founder of the Rare Disease Film Festival.
EPISODE HIGHLIGHTS
Tell us about your son Lucas.
The good news is that he has just turned eleven years old. He was diagnosed with Menkes at age one and we've been dealing with this rare disease journey for ten years. It's unfortunate that had he been diagnosed immediately at birth, he could have had a very different outcome. He could have had almost a symptom free path. Menkes disease is an interesting example of how important early detection can be and that's one of the reasons I try to be so vocal and raise awareness. If you're treated in the first ten days of life, you can be spared almost all of the symptoms. Despite spending the first ten days of his life in NICU for a skull fracture that seemed unrelated at the time, Lucas wasn't diagnosed and treated. Menkes is so unknown, no one thought to look down that line of research, questioning and testing.
What does diagnosing Menkes entail? Is it a simple blood test?
It's pretty easy to spot Menkes if you know to look for it. Things like checking the hair under a microscope helps to discover twisted hair which is a strong indicator. A blood draw can tell you the copper levels are high. Ultimately, you want a genetic scan, but if you have these easier indications, the ATP7A gene can be examined further to reveal Menkes disease.
What is Menkes disease?
If you have a mutation in the ATP7A gene, you don't create the protein that transports copper. Most of us do fine with the amount of copper in our diet and it's not a problem for most people. Too much copper leads to Wilson's disease and too little copper leads to Menkes disease. Copper is needed for developing the brain, your muscles and hair. Lucas has very low muscle tone. He can move his legs, arms, feet and hands a little bit, but not with any control. He can't sit unassisted even at the age of eleven.
Was Lucas not hitting milestones which lead to a diagnosis after a year?
One of the signs we saw of a regression was that he was able to roll stomach to side or back to stomach and then he lost that ability at eight months old. That was a big warning sign that we needed to seek out a diagnosis. In terms of a diagnostic journey, we were pretty lucky because it was very short. At four months old, he missed some milestones and we thought it was related to an early birth and the head trauma. Then at eight months old when he regressed, we kicked it into gear and saw a geneticist. For as rare as this disease is, that geneticist had seen other cases of Menkes and came back with a definitive diagnosis months later. Meanwhile, I had researched and determined that it was either going to be Wilson's or Menkes and I was rooting for Wilson's because you can live a longer life with Wilson's, but it wasn't.
If it's simple to notice, has there been any movement in making this part of newborn screening?
Just in the last year, there's been a lot of progress, thanks to the Menkes Foundation. Thanks to their effort, a newborn screening is now 99% accurate and is required in six states. Menkes Foundation is working with the Every Life Foundation to get this in place across all 50 states because there's such an effective treatment once it's diagnosed.
What is the treatment within the first ten days of life?
It's simple. You inject copper into the body. If you can process copper at all, increasing the amount of copper available in the system increases the opportunities. So much development is happening in the first ten days and to be starved of copper at that time is critical.
When you get a diagnosis like this, it's heavy. How has this been a gift and a challenge for your family?
I wrote a piece on The Mighty, my first coming out at a rare disease person and eventually an advocate. The piece was called "How Parenting a Dying Child Has Changed All My Expectations". You go through grief, of course. You have a diagnosis that says limited lifespan and it's a death sentence. You come through that grieving process and realize that what you're grieving is this expectation of what you thought you were going to have and what you thought a normal, healthy child was going to be. It takes a considerable amount of time and thought to get to the other side of that where it's bad, but not 100% bad where there's still good. You can say it's a death sentence, but it's not tomorrow's death sentence. There's some amount of life together with the child. How do you want to live that life? Any amount of wisdom I've gained from this starts to sound like well worn adages we already know, but when you really live it with no other choice you can embrace it more.
What have you found to help when you have caregiver burnout?
Very infrequently, my wife and I have a date night or a night without kids and that can help. I find writing the blog, making a film or public venting about where I'm at can be a relief. Public venting is a way of double-checking myself, determining if I'm feeling self-pity or if it's a real crisis or if anyone else has gone through something. When you hear back from people, you can recalibrate yourself. Even if you aren't trying to advocate for your child or others where more openness and transparency is better, the sharing part is worth it because people can be helpful to you. No one wants to be part of this club. It's a terrible rare disease club to be in, but once you're in it you realize how many amazing people are out there. When you tell your struggle, it's more likely people will share with you on a deeper, truer level. Let's not be afraid to tell eachother how tough it is sometimes.
You've co-created the Rare Disease Film Festival which is amazing. Tell us a little bit about why you started it.
After I wrote the first piece on The Mighty, Global Genes named it the Rare Patient Story of The Year. That made me think there was value and it served a purpose, not just for me but for others. I had a bit of a background in filmmaking, had made a few films and I made a film about Menkes disease in 2015 called "Menkes Disease, Finding Help and Hope". I wanted to change the Google results when people got this diagnosis, that they didn't just read the horrible prognosis that their child would live 3-10 years, but you'd find this video. Having made the film, the next step was figuring out where it could be shown, the best audience and the best ways to get it seen. Posting it online was useful and got us to a certain point, but then I met Bo Bigelow at Global Genes and he was doing similar things with his podcast and blog. He was talking about making a film and I brought up the issue of where the best places to show films like this would be. Although there were film festivals that focused on health or science topics, none focused on rare disease. In 2015, we did the first film festival in Boston and it went very well and people responded well to it. The next film festival is this May in NYC.
How does a family go about creating something to submit to your film festival?
We have a range from the ones of people pointing the cell phone at themselves and telling a story, which may not be the best way, but is a valid way of doing it. It's about the power of the story you're telling and not so much the way you're telling your story. We have had people find a filmmaker locally that's willing to do this as a passion project or work of charity. There are also people who are seasoned professionals and well funded. One of the things we're doing for the first time at the NYC film festival is we're going to have a hands-on workshop with seasoned filmmakers who can give people tips.
Have you found that a doctor or researcher has seen a film and decided to pick up one of these rare diseases and studied it?
Yes and that's the goal. We wanted to structure it so people would take the information they get from the films and start new conversations and compare notes and make connections that would move towards treatments and cures. At our first festival in Boston, a woman named Janis Creedon who appeared in Rare in Common and spoke on a panel we had, has a son who is still undiagnosed. She's struggling with that thinking he's the only one in the world. A CEO from a diagnostics company spoke and he was talking about how he could diagnose rare diseases and find other people with those rare diseases. Janice stood up and asked if he could help her son and he said he could. This past festival in San Francisco, a woman with Fraser syndrome made a film about her condition and interviewed others who had it too. When she was done with the Q&A at the festival, a geneticist came up to her and said they could help. Those are the things we like to see happen.
What are some words of wisdom you'd share with a family at the beginning of their diagnosis journey?
The hardest parts are at the beginning of the diagnosis. It gets easier with time. One thing that helps is when you find your people and that's probably going to be a Facebook group or even an in-person group. Seek out that community who will understand where your questions are coming from. While a community may not be a source of all the answers, it's a source of comfort and it's often more reliable than your doctor's answers.
LINKS AND RESOURCES MENTIONED
Menkes Disease: Finding Help and Hope
How Parenting a Dying Child Has Changed All My Expectations
TUNE INTO THE ONCE UPON A GENE PODCAST
CONNECT WITH EFFIE PARKS