The sixth stage of grief

In conversation with Daniel DeFabio, Co-Founder of The DISORDER Channel and DISORDER: The Rare Disease Film Festival.

“Eventually we got through the worst of the shock and moved on with building the best life for him. He was a very happy smiley guy, and he showed us a different way.”

When you become parents to a child with a rare disease or condition, especially if there are related complex medical needs, life is forever changed.

As part of coming to terms with their new family life parents often go through a period of grief and mourning for how they had imagined their life would be, until they find some kind of weary peace with the rhythm and routines of their new normal.

When Daniel and Tina’s first child, a son they named Lucas, was born two weeks early he had a fractured skull and was also jaundiced, so he spent the first ten days of his life in the NICU (neonatal intensive care unit) before he was able to come home. In the first few months of his life his parents could see that he was perhaps a little behind on some developmental milestones, but the doctors reassured them that he may well still be catching up, and healing from his skull fracture. Daniel recalls that “for a while there was a way to dismiss the warning signs, but at nine months not only was he behind on milestones, he actually regressed, and lost the ability to flip from his stomach to his back, and that was the most clear sign that we had.”

The geneticist they visited had seen two other children with Menkes disease in his time, and so it only took a few months for Lucas to receive his diagnosis, which was, he explained, unusually quick. “And yet, as good as it is to get a quick diagnosis, it was a bit cruel in this case, because my son Lucas had spent the first 10 days of his life in a NICU, and Menkes disease is one of the few rare diseases that has a treatment, but only if it is given in the first 10 days of life. So, for him to be diagnosed at age one was not as helpful as it could have been.”

Over the following months, and indeed years, Daniel and Tina began to adjust, though “there was a very clear recalibration that my wife and I had to go through, to accept that this changes everything. What you tend to grieve is what you expected to happen, and those expectations are out the window [because] maybe none of those things are going to happen. And you can grieve for every one of them… it probably took two years to really adjust, but that is probably the biggest shift and change that allows you to manage this at all. Otherwise, I think you’re just in constant despair and sadness, and probably a dark spiral.”

As is often the case in families, they both moved forward in the way which they needed to, finding their focus and strength in different ways. Tina was, he explains, much more inward facing, and focused on what would benefit Lucas and what he needed to thrive. Whilst Daniel shared this focus, he also felt a strong need to reach out, and to connect with others who were going through something similar.

“I had a background in film, and so I began to tell his story as a blog post. As that seemed to resonate with people, I thought that maybe the story should be a film too, and that sort of put a whole bunch of things into motion.” In trying to find suitable places to screen his film, ‘Menkes Disease: Finding Help and Hope’ Daniel realised that there were no festivals that he could easily access, as typically independently produced short films are screened at local, national, or international film festivals which have specific eligibility genres or categories for submission.

Whilst attending a conference hosted by the organisation Global Genes, he met a man called Bo Bigelow whose daughter also had a rare condition, and who shared Daniel’s determination and drive to shine a light on rare diseases. “We realised maybe if the perfect place to show rare disease films didn’t exist, that we should create that place. So, we did, we created ‘DISORDER: The Rare Disease Film Festival.’”

DISORDER: The Rare Disease Film Festival was an innovative new event, with the specific aim of showcasing short films submitted from across the world, centred on aspects of life with a rare disease. The inaugural festival was held in October 2017 in

Boston, with the second festival taking place in San Francisco in 2019. However, the onset of the COVID-19 pandemic meant that plans for the third festival needed to be reconsidered, and with successive lockdowns becoming a reality in many countries, it began to look as though in person events might not be an option for an unknown period.

It was then, Daniel explains, that “we realised we could launch a streaming channel, which became The DISORDER Channel, which you can get on Roku or Amazon Fire TV devices for free. Although we certainly missed aspects of the in-person screenings that were so important to get people together, and to make those connections, the channel offered different opportunities. For example, at a film festival we might need to limit how many films we could show. Certainly, if we already had one film about mitochondrial disease, we might not want two or three more, but with a channel the inventory can be almost infinite.”

Today there are almost 250 films and videos available to watch. In addition, the channel features several series, where there are a number of films about an individual rare disease, giving a real breadth of insight, experience and knowledge about that disease. The team also select some of the films to be featured on their YouTube channel (linked here), meaning these are available to watch for anyone with access to the internet.

The DISORDER Channel was due to launch in a week that became the most difficult week for the DeFabio family, as their beautiful Lucas deteriorated after undergoing four vital surgeries over six days. For families whose child or children live with a complex, degenerative, life-limiting condition, losing their child is made no easier by knowing it will happen. The circumstances in which a child passes away matter so much, and for Daniel, www.samebutdifferentcic.org.uk

Tina and Lucas’s younger brother the timing of his death was particularly hard.

“It was the worst. We live a little bit north of New York city, and in May 2020 it was at the epicentre of the pandemic for America. So, it had a huge impact in that they were only letting one guardian into the hospital at the time. I was in hospital with Lucas, as we chose that it would be me and not my wife, but that of course had its own challenges.”

After Lucas had died the family didn’t feel able to have a funeral for him, or to ask people to gather to remember him. However, they still found a way to remember and honour Lucas. “It was actually my younger son, who at the age of nine is wise beyond his years; he decided what our memorial for Lucas should be. It was to plant trees in our backyard…. [it] was going to be a little ceremony, and I asked him if we were just gathering, or if we were speaking and everybody said ‘no, let’s just be silently here.’ And then, after a little while, he looked at my wife and I, and said ‘can you guys go away? I want to sing him a song.’ I’ll never know what the song is.”

“I called my first film on Menkes disease ‘Menkes Disease: finding Help and Hope’ because at the timeand this is still true for so many rare diseases, if you go on WebMD or Google you only read really bad news… and yet, some good things will still happen.”

Although grief is universal and will almost certainly impact most of us in our lifetimes, the death of our children is a grief that most of us simply cannot, and do not want to have to imagine. Despite the grief many parents go through when their child receives a lifechanging diagnosis, when your child dies the cycle of a new, and very different grief starts again.

In her internationally acclaimed book, ‘On Death and Dying’ first published in 1969 the psychiatrist Elisabeth Kübler-Ross introduced her theory of the five stages of grief, stages which are broadly experienced by the grieving, although not necessarily in a particular order or within a certain timeframe. Indeed, people may often move between stages, or even experience elements of the different stages at the same time.

More recently however, David Kessler, a grief expert who had worked closely with Kübler-Ross, added an important sixth stage, which he called ‘Making Meaning’, and in part describes the experience of, or desire to create something of meaning for others. It is this sixth stage which shapes Daniel’s life today, of finding (new) purpose. “If you know about the stages of grief then we think of them as five stages of grief, but there’s been a sixth stage added somewhat recently, which is purpose, or meaning making, and I kind of feel like that’s where I’m at with rare disease advocacy work.”

“I had a background in film, and so I began to tell his story as a blog post. As that seemed to resonate with people, I thought that maybe the story should be a film too, and that sort of put a whole bunch of things into motion.”

Around six months after Lucas passed away Daniel took on the role of Director Of Community Engagement for Global Genes, a role about which he is passionate, and to which he can bring both a depth of personal experience and a broad breadth of knowledge.

As part of his role he works with families, or patients themselves, that are dealing with a rare disease. He explains that for him there were several reasons that this role felt like it was the right fit at the time. The first, quite simply, was that he could now offer to give the role his time and focus in a way he couldn’t have before.

“The sad, practical reality of losing Lucas and the caregiver responsibilities I had meant I had time. Previously I needed to be my own boss, I needed to keep my schedule, and to be flexible. Without that caregiver role, I realised I could be available for a working week, and the possible travel that a role with Global Genes comes with, for conferences and things like that.”

About Menkes Disease

Menkes disease (abbreviated to both MD or MNK) is also commonly known as Menkes Syndrome, Steely Hair Disease or Kinky Hair Disease. MD is a rare, inherited, neurodegenerative genetic disorder caused by mutations in the ATP7A gene which regulates the metabolism of copper in the body. The mutation impacts the way in which the body can absorb and process copper, meaning that copper accumulates at abnormally low levels in the liver and brain, but at higher-than-normal levels in the kidney and intestinal lining. MD typically affects more males than females, and presents soon after birth, although babies will often have appeared to be healthy for the first weeks of life. Children with MD often have distinctive sparse, kinky hair, with a ‘steel’ colour giving rise to some of the names used. However, the main symptoms can include seizures, low muscle tone (hypotonia), growth failure, developmental and learning disabilities and an overall poor quality of life. The disease is both progressive and lifelimiting. The current average life expectancy is around 3 years without early treatment. Current treatment focuses on treating the symptoms of the disease, as there is no cure, and to be effective treatment should begin within the first 28 days of life. There is a secondary, less severe form of MD that begins in early to middle childhood which is called Occipital Horn Syndrome.

The Menkes Foundation socials:

Deciding to work with the rare community was a choice, made predominantly due to his related experience, and the opportunity to work in a supportive, positive, and affirming way. “I made a choice about that, it felt right. I know that it sometimes occurs to people that it may be overwhelming for me, for someone in my situation. Instead, I think I find encouragement in it, or comfort in a way. It’s a little bit of Lucas’s legacy. It’s a little bit of what comforts me.”

Over the last year he has found himself making a shift towards working in a more direct way with grief and grieving. From setting up a panel at the 2022 Global Genes summit that discussed the ways in which we can come together as a community to grieve to leading a panel discussion on grieving, either a death or a diagnosis, at the 2023 summit. He also hosts a regular zoom call for those who have lost a child, whether recently or many years ago, and who want to have a space to be with those who truly understand. “There’s no agenda, there’s no topics, it’s just whatever people want to talk about… I always tell people, ‘step 1, you have to find your people,’ and when it’s a rare disease, for example, then you want to find other families dealing with that syndrome, as they are probably your best guides and community. Then, after losing Lucas, I realised my community is now a subset within the rare disease community, it’s the people with rare disease who have lost a child.”

As well as his work with Global Genes, the DISORDER Channel means that Daniel can continue to work

Global Genes socials: on raising awareness of rare disease, something which he, along with his family and his partner in the channel Bo, remain utterly committed to. They feel strongly that through documenting and sharing real-life experiences in films they can provide a platform for individuals and communities to be represented, to be seen and heard, to advocate, to innovate and to take action. “Not everyone is comfortable telling their story publicly, but if you are it will not only benefit you, it will benefit others. Those benefits can be unexpected, you never know who finds you and might suggest ‘oh, this might be something we could work on together’ or ‘this might be of help.’ Without that you are more likely to be alone, and that’s one of the worst ways to try to deal with this life.”

For all of us truly understanding the reality of someone else’s experience is hard, but if we can share our story it can at least allow people the opportunity to try to learn, and to gain a better understanding. Also, as Daniel explains, in doing so we can give people some hope.

“I called my first film on Menkes disease ‘Menkes Disease: finding Help and Hope’ because at the time - and this is still true for so many rare diseases, if you go on WebMD or Google you only read really bad news… and yet, some good things will still happen. I didn’t want to sugarcoat anything, but I did want to provide the context. I had to slowly learn that as bad as this situation seems to be, or the prognosis is, there’s still going to be joy in this life. I wanted to put some of that on screen, so that when you searched Menkes disease you didn’t just find the bad news on WebMD, you also found the context of real families going through it and saying ‘we get to live this life’, and you know some of it is really hard and terrible, and some of it is amazing and full of unexpected joys.”