Talk to Your Physical Therapist – Why SPG4 Needs Focused PT
When it comes to treating spasticity in SPG4, it’s not just about any physical therapy. It’s about a highly specific approach that focuses on opposing muscle groups and maintaining muscle length. Why Specificity and Muscle Length Matter SPG4 often leads to muscle imbalances that cause certain muscles to become overly tight while their opposing muscles…
Individuation and Rare Parenting
Becoming Ourselves While Raising Someone Rare What Is Individuation? Individuation is becoming your truest self—not just the version shaped by roles or expectations, but the version formed when all the pieces of your identity align. In rare parenting, it can feel like we disappear into caregiving. We become researchers, therapists, advocates, protectors. Somewhere in all…
A Double Hit
When the Gardener Stops Pruning: An Analogy for SPG4 Imagine your nervous system as a sprawling garden. The garden paths are microtubules—those long cellular highways that transport everything a neuron needs. These paths must be meticulously maintained. Enter SPASTIN, the gardener whose job is to prune these microtubules so they remain healthy, dynamic, and uncluttered.…
Our Reality
Let’s tell the truth.
A cure for SPG4 is not coming tomorrow. Not next month. Not next year.
It may not come in time for the children who are living with it right now.
Real therapies – ones that actually repair the gene, restore the cells, and clean up the damage – will take tens or even hundreds of millions of dollars, and decades of coordinated research. That’s the scale we’re talking about.
It’s not a grant. It’s not a fundraiser. It’s a generational effort.
So while the world waits for science to catch up, we are left to live in the in-between. And this is where the real work happens.
We’re figuring out how to safely bathe a child who can’t stand anymore.
How to help them speak when their mouth won’t cooperate.
How to manage bladder control, to find the right wheelchair, to make every room in the house safe and dignified.
These are not side issues. These are the everyday realities for our children.
If this is our reality, then a conversation about how to best bathe a child who can no longer stand may matter more to some than a fundraiser that raises a few hundred thousand dollars. Because that conversation changes a family’s night, not a scientist’s decade.
Most of what’s available to us right now – therapies, stretches, medications – has been borrowed from other diseases.
They don’t repair what’s broken. They help us endure it.
They keep muscles from tightening, spirits from breaking, and families from falling apart. They are stopgaps – but sometimes stopgaps are the difference between chaos and survival.
This isn’t about pessimism. It’s about clarity.
Because only when we stop pretending a cure is close can we focus on what truly matters: making life better, more comfortable, more connected, and more bearable right now.
We can’t promise miracles. But we can promise truth.
SPG 4 Denovo 