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The Hidden World of Rare Disease
A Rare diseases diagnosis reshapes families, reinvents fatherhood, and changes the way we measure a life
By Mike Dobbyn |
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The day my son Connor was diagnosed with Sanfilippo syndrome, I entered a world I barely knew existed.
Like most people, I did not fully comprehend the reality of what a “rare disease” meant until it became personal. Rare diseases are exactly that: extraordinarily uncommon conditions affecting a small number of unfortunate families somewhere far away. What I eventually learned is that while each individual rare disease may affect only a small population, collectively rare diseases impact millions of people across the country and around the world. Some estimates suggest that roughly one in ten Americans is affected by a “rare” disease in some way.
Behind every diagnosis is a family trying to adapt to a new reality. And behind many of those families is a parent quietly trying to hold themselves together.
My son Connor (almost 18 years old now) was eventually diagnosed with Sanfilippo syndrome, a rare genetic neurodegenerative and life-shortening disease commonly described as a childhood form of Alzheimer's. It is progressive, and it is terminal. Like many rare diseases, there is currently no cure. Only one in 75,000 children are born each year with the disease, putting it in the “ultra rare” category. Most people have never heard of it until it suddenly enters their life.
Like many rare-disease families, our family’s path toward diagnosis was not straightforward.
Connor was first diagnosed with Autism in Kindergarten, and later with Intellectual Disability (ID) in 3rd grade, before the deeper genetic explanation eventually emerged a year later following extensive genetic testing. That journey and experience reshaped the way I think about developmental disorders more broadly—not because I claim expertise in those areas, but because I began to understand how often families are first reacting to patterns of behavior without yet understanding the biological cause underneath them.
For many rare disease families, the path toward diagnosis can take years. Even after diagnosis, true clarity rarely arrives. And, in many ways, that future only becomes murkier.
Many rare diseases are progressive and unpredictable. There is no “roadmap”. Parents are often forced to make enormous emotional, financial, and medical decisions while operating with incomplete information and certainly no guarantee, and - in all rational actuality and likelihood - very slim chances that an effective treatment or breakthroughs will arrive in time to save our own children from eventual pain and suffering. But what surprised me most, personally - as a dad - was not just the murky and unfamiliar medical side of rare disease. It was the emotional and psychological isolation that comes with it.
There is an unspoken idealization that men, specifically fathers - are supposed to remain steady, practical, and emotionally controlled at all times.
We try to solve problems. We try to project optimism and confidence. We try to stay composed even when we feel completely overwhelmed. Many of us instinctively retreat into problem-solving mode or even desperate action (for the sake of doing something, anything) - because it feels safer than vulnerability.
There is an old cliché about men spending hours together and somehow still discussing almost nothing meaningful - and, yes, it’s true.
“What did you guys talk about?”
“Nothing.”
“How’s his new job?”
“I don’t know. I didn’t ask.”
When I get together with old college friends, for example, we are just as likely to spend half the night talking about the four burritos somebody once ate in one sitting freshman year, or reminiscing about that time senior year when we snuck into Cameron Indoor Stadium for the Duke/UNC basketball game, as we are discussing anything having to do with our mental and emotional state of being or personal fears and worries. We can spend years around one another without ever talking openly about grief, helplessness, fear, anxiety, mortality or uncertainty in any deep and meaningful way.
Fathers in rare disease families have an abundance of grief and fear. But one of the great misconceptions about rare disease families is that they spend all their time focused on tragedy. Of course anticipatory grief is part of the journey. Anxiety is part of it too. But so is humor. So is perspective. So is gratitude. And surprisingly often, so is growth and self-empowerment. Many rare disease parents become accidental advocates. Few of us expect or hope to organize fundraisers, advocate for research, educate our communities, or spend late nights reading daunting medical journals about topics we never imagined even exist.
But necessity changes people. And when your child’s condition is unfamiliar to much of the world, creating awareness itself becomes part of your parental and moral responsibility.
Eventually, I began connecting with other fathers—and other parents—navigating their own rare journeys. Different diseases. Different personalities. Different backgrounds. But often remarkably similar emotions and child-raising challenges. That realization helped inspire our monthly (Zoom-based) #RareDads RoundTable conversations and virtual get-togethers. While many of us dads on these calls initially connected through the Sanfilippo community, it quickly became obvious that the table needed to be bigger than one disease. Everybody needs an outlet, regardless of whether we asked for it or even think we need it in the first place.
What I have found in my conversations with other rare dads was not despair. It was connection.
We shared a comforting recognition that we are all in the same boat and just doing the best we can to stay afloat and learn from others along our respective journeys.
A significant lesson I have learned from the rare disease world is that different people contribute in very different ways. Some parents immerse themselves deeply in science and research. Others organize communities, support newly diagnosed families, raise awareness publicly, or simply help other parents feel less alone. And many are doing something even harder - shouldering the physical and mental load that comes with keeping a medically fragile child as happy and striving and pain-free as possible.
Many rare-disease families quietly give up careers, financial security, independence, sleep, and enormous portions of their personal identity to care full-time for a medically fragile child. In most cases, it is the mothers who carry an extraordinary share of that burden, which is one reason so many become such visible and relentless voices within the rare disease community.
Another reality many rare disease families quietly navigate is guilt—especially when siblings are involved.
This summer, I am taking my younger son Keenan on a cruise while recognizing that the trip simply would not be the right fit for Connor anymore. Even arriving at that conclusion carries emotional weight. One constantly finds himself asking impossible questions. How do you create experiences for one child without feeling guilty about the other? How do you balance everyone’s needs fairly when fairness itself becomes difficult to define? What is the “right” answer? Most of the time, there isn’t one. There are only imperfect decisions made with love, uncertainty, and limited emotional bandwidth. And in many ways, those decisions only become more difficult over time.
I am learning in real time: about parenting, advocacy, anticipatory grief, gratitude, humility, and how to remain hopeful without becoming naïve. Rare disease has not made me wiser so much as more aware of how little control any of us really have over certain situations and circumstances.
And it has changed the way I see people, and made me more aware of how much we need one another.
It has made me notice the quiet forms of strength that often go overlooked: the parent managing exhaustion without complaint, the sibling learning patience and empathy earlier than expected, the teacher who makes extra effort, the friend who keeps checking in, the family quietly adapting to realities they never planned for.
For all the isolation rare disease can create, it has a strange way of exposing the limits of isolation itself. Eventually, you realize that nobody really carries these burdens alone, at least not fully.
I still do not know what the right answers are much of the time. Most rare disease families do not. We make imperfect decisions, but we adapt and recalibrate. We try to stay present. We try to keep loving people well through uncertainty. We do the best we can and hope it’s enough.
And maybe, in the end, that is more than enough.
_________________________________________________________________________________________________________
If you’re the father of a child with special needs, we invite you to join us at the #RareDads RoundTables. Come sit with dads who understand, who have lived it, who will walk beside you. Learn more at www.sanfilippo-project.com.
Like most people, I did not fully comprehend the reality of what a “rare disease” meant until it became personal. Rare diseases are exactly that: extraordinarily uncommon conditions affecting a small number of unfortunate families somewhere far away. What I eventually learned is that while each individual rare disease may affect only a small population, collectively rare diseases impact millions of people across the country and around the world. Some estimates suggest that roughly one in ten Americans is affected by a “rare” disease in some way.
Behind every diagnosis is a family trying to adapt to a new reality. And behind many of those families is a parent quietly trying to hold themselves together.
My son Connor (almost 18 years old now) was eventually diagnosed with Sanfilippo syndrome, a rare genetic neurodegenerative and life-shortening disease commonly described as a childhood form of Alzheimer's. It is progressive, and it is terminal. Like many rare diseases, there is currently no cure. Only one in 75,000 children are born each year with the disease, putting it in the “ultra rare” category. Most people have never heard of it until it suddenly enters their life.
Like many rare-disease families, our family’s path toward diagnosis was not straightforward.
Connor was first diagnosed with Autism in Kindergarten, and later with Intellectual Disability (ID) in 3rd grade, before the deeper genetic explanation eventually emerged a year later following extensive genetic testing. That journey and experience reshaped the way I think about developmental disorders more broadly—not because I claim expertise in those areas, but because I began to understand how often families are first reacting to patterns of behavior without yet understanding the biological cause underneath them.
For many rare disease families, the path toward diagnosis can take years. Even after diagnosis, true clarity rarely arrives. And, in many ways, that future only becomes murkier.
Many rare diseases are progressive and unpredictable. There is no “roadmap”. Parents are often forced to make enormous emotional, financial, and medical decisions while operating with incomplete information and certainly no guarantee, and - in all rational actuality and likelihood - very slim chances that an effective treatment or breakthroughs will arrive in time to save our own children from eventual pain and suffering. But what surprised me most, personally - as a dad - was not just the murky and unfamiliar medical side of rare disease. It was the emotional and psychological isolation that comes with it.
There is an unspoken idealization that men, specifically fathers - are supposed to remain steady, practical, and emotionally controlled at all times.
We try to solve problems. We try to project optimism and confidence. We try to stay composed even when we feel completely overwhelmed. Many of us instinctively retreat into problem-solving mode or even desperate action (for the sake of doing something, anything) - because it feels safer than vulnerability.
There is an old cliché about men spending hours together and somehow still discussing almost nothing meaningful - and, yes, it’s true.
“What did you guys talk about?”
“Nothing.”
“How’s his new job?”
“I don’t know. I didn’t ask.”
When I get together with old college friends, for example, we are just as likely to spend half the night talking about the four burritos somebody once ate in one sitting freshman year, or reminiscing about that time senior year when we snuck into Cameron Indoor Stadium for the Duke/UNC basketball game, as we are discussing anything having to do with our mental and emotional state of being or personal fears and worries. We can spend years around one another without ever talking openly about grief, helplessness, fear, anxiety, mortality or uncertainty in any deep and meaningful way.
Fathers in rare disease families have an abundance of grief and fear. But one of the great misconceptions about rare disease families is that they spend all their time focused on tragedy. Of course anticipatory grief is part of the journey. Anxiety is part of it too. But so is humor. So is perspective. So is gratitude. And surprisingly often, so is growth and self-empowerment. Many rare disease parents become accidental advocates. Few of us expect or hope to organize fundraisers, advocate for research, educate our communities, or spend late nights reading daunting medical journals about topics we never imagined even exist.
But necessity changes people. And when your child’s condition is unfamiliar to much of the world, creating awareness itself becomes part of your parental and moral responsibility.
Eventually, I began connecting with other fathers—and other parents—navigating their own rare journeys. Different diseases. Different personalities. Different backgrounds. But often remarkably similar emotions and child-raising challenges. That realization helped inspire our monthly (Zoom-based) #RareDads RoundTable conversations and virtual get-togethers. While many of us dads on these calls initially connected through the Sanfilippo community, it quickly became obvious that the table needed to be bigger than one disease. Everybody needs an outlet, regardless of whether we asked for it or even think we need it in the first place.
What I have found in my conversations with other rare dads was not despair. It was connection.
We shared a comforting recognition that we are all in the same boat and just doing the best we can to stay afloat and learn from others along our respective journeys.
A significant lesson I have learned from the rare disease world is that different people contribute in very different ways. Some parents immerse themselves deeply in science and research. Others organize communities, support newly diagnosed families, raise awareness publicly, or simply help other parents feel less alone. And many are doing something even harder - shouldering the physical and mental load that comes with keeping a medically fragile child as happy and striving and pain-free as possible.
Many rare-disease families quietly give up careers, financial security, independence, sleep, and enormous portions of their personal identity to care full-time for a medically fragile child. In most cases, it is the mothers who carry an extraordinary share of that burden, which is one reason so many become such visible and relentless voices within the rare disease community.
Another reality many rare disease families quietly navigate is guilt—especially when siblings are involved.
This summer, I am taking my younger son Keenan on a cruise while recognizing that the trip simply would not be the right fit for Connor anymore. Even arriving at that conclusion carries emotional weight. One constantly finds himself asking impossible questions. How do you create experiences for one child without feeling guilty about the other? How do you balance everyone’s needs fairly when fairness itself becomes difficult to define? What is the “right” answer? Most of the time, there isn’t one. There are only imperfect decisions made with love, uncertainty, and limited emotional bandwidth. And in many ways, those decisions only become more difficult over time.
I am learning in real time: about parenting, advocacy, anticipatory grief, gratitude, humility, and how to remain hopeful without becoming naïve. Rare disease has not made me wiser so much as more aware of how little control any of us really have over certain situations and circumstances.
And it has changed the way I see people, and made me more aware of how much we need one another.
It has made me notice the quiet forms of strength that often go overlooked: the parent managing exhaustion without complaint, the sibling learning patience and empathy earlier than expected, the teacher who makes extra effort, the friend who keeps checking in, the family quietly adapting to realities they never planned for.
For all the isolation rare disease can create, it has a strange way of exposing the limits of isolation itself. Eventually, you realize that nobody really carries these burdens alone, at least not fully.
I still do not know what the right answers are much of the time. Most rare disease families do not. We make imperfect decisions, but we adapt and recalibrate. We try to stay present. We try to keep loving people well through uncertainty. We do the best we can and hope it’s enough.
And maybe, in the end, that is more than enough.
_________________________________________________________________________________________________________
If you’re the father of a child with special needs, we invite you to join us at the #RareDads RoundTables. Come sit with dads who understand, who have lived it, who will walk beside you. Learn more at www.sanfilippo-project.com.
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Mike Dobbyn founded the Sanfilippo Project to support the children and families impacted by Sanfilippo Syndrome. By finding the courage to share our individual stories, we hope to help others.
#SanfilippoProject #Learn #Share #PayItForward |
