What I Wish We Knew

What to Expect Early On

If you’re here, you were probably just handed a diagnosis you’d never heard of and then sent home to figure it out. That part is real. And it’s hard. There isn’t a clean roadmap for SPTAN1. And those early days were overwhelming for me. So I wanted to share some of what I wish I’d known back then, in the hope that it gives someone else a bit of clarity, guidance, or even just a place to start.

The variant matters...more than you think

One of the first things you’ll notice is how broad the spectrum is, and that’s because SPTAN1 isn’t one condition. It’s many, depending on the specific variant.

Two children with the same gene involved can have very different experiences. That’s why you’ll hear the phrase variant-specific often. It can feel frustrating at first, but it also means:

• Outcomes aren’t predetermined

• Your child’s path isn’t limited to someone else’s story

When possible, learn the exact variant. It becomes one of the most important pieces of your child’s medical picture.

Staying organized matters (even if it feels impossible at first)

There will be a lot. Specialists. Appointments. Therapies. Medications. Paperwork. I had no idea at the beginning how quickly it would add up! But what I do know now is that you don’t need a perfect system—just a functional one:

• A running notes app

• A binder (digital or physical)

• A simple, up-to-date medication list

Future you will be glad you started early.

Early intervention can make a real difference

Therapies often begin early, and for good reason. We were so fortunate to begin physical therapy, occupational therapy, vision therapy, and feeding therapy early on. And most importantly...these therapists taught me SO MUCH about how my girls were developing, how to help them be their best, support them in getting strong, and how to interact and play with them. I truly believe early interventions helped me just as much as they helped my girls.

But please know that these aren’t about “fixing” your child. They’re about supporting development, comfort, and quality of life. Even small gains matter more than you might expect right now.

Support systems aren’t optional

This isn’t something you were meant to carry alone. Say that out loud.

Support might look like:

• Family or friends

• Other parents who get it

• Medical teams you trust

• Online communities

And just as important: Taking care of yourself in whatever way is actually realistic. Not the idealized version of long getaways and weekly massages, but the real ones: Your physical and mental health. Hydrating, sleeping, meditating, staying up-to-date on dental appointments...because what I learned the hard way is that neglecting myself in the beginning created some real challenges later. Stress has a way of catching up with you...like a silent little assassin.

Look into what your child qualifies for early

It’s not always obvious, but there are often programs and services available that can help. Depending on where you live, that might include:

• Developmental disability services (like Division of Developmental Disabilities)

• Early intervention programs

• Therapy coverage or support services

These systems can take time to navigate and starting early makes a difference.

Finding joy and gratitude matters too

This one can feel complicated, and you don’t have to pretend this is easy, or that you’re grateful for the diagnosis itself. Trust me...I'm not. But over time, many families find that holding space for both grief and joy is what makes this sustainable.

It might look like:

• Celebrating smaller milestones

• Noticing what is going well

• Letting moments of normalcy count

Both things can exist at the same time. These days, I don't look at my twins and see their diagnosis. I just see my kids, who they are, what they like, and how good they feel in my arms.

No two cases are alike

You’ll hear a lot of comparisons early on. I struggled with this, but I try not to let them define my expectations. Rare diseases are often described with a zebra...because "when you hear hoofbeats, it’s not always a horse." But also: no two zebras have the same stripes.

Your child’s story will be their own.

A few practical next steps

If you’re wondering what to actually focus on right now, my advice is to start here:

• Confirm your child’s specific variant and keep a copy of the report

• Schedule follow-ups with neurology and any recommended specialists

• Ask about early intervention referrals

• Start a simple system to track appointments and medications

That’s enough for now.

A quick note about Google

If you’ve already started searching, you’ve probably seen a wide range of outcomes...some of them scary. Much of what’s online is limited, outdated, or not specific to your child’s variant. Try to take in information slowly, and with context.

One more thing

Early on, there can be pressure to:

• Update everyone

• Educate everyone

• Explain everything

You don’t owe everyone a full explanation of your child’s diagnosis.

A final note

You don’t need to understand everything right now. You don’t need a five-year plan. You just need the next step. And then the next one after that. When you’re ready, you can explore more about what SPTAN1 means or what daily life can look like.