The Good, the Hard & the Beautiful: Parenting Early-Onset FSHD
October 11, 2026
The Good
This week was filled with so many sweet moments. Lucas enjoyed electric scooter rides around the block, lots of living room football, shooting hoops in the driveway, and some creative fun with sidewalk chalk. These everyday moments may seem small, but they are the kinds of memories we treasure most.
Heart check ❤️: With early-onset FSHD, the upper body typically faces muscular challenges first. Since the heart is one of our most important muscles, Lucas had his checkup today, including an EKG and echocardiogram, at Pediatric Cardiology Consultants of South Texas. We see Dr. Olawale Olabiyi, whom we lovingly call Dr. O. He is an amazing pediatric cardiologist, and we are so grateful for his care and expertise.
As we have seen in past visits, Lucas has a wandering atrial pacemaker (atrial ectopic focus). In layman's terms, this is a benign irregular heart rhythm where the electrical signal shifts between different locations in the upper chambers of the heart. Occasional extra or skipped beats are very common, even in healthy people, and they typically do not damage the heart muscle or pose a threat on their own. We simply need to be aware of symptoms such as severe shortness of breath or episodes of a very fast heartbeat accompanied by dizziness. Praise God, Lucas has experienced none of those symptoms!
Lucas also has a Patent Foramen Ovale (PFO). A PFO is a common flap-like opening between the upper chambers of the heart that does not completely close after birth.
Fun fact: God's design is amazing. Every baby has a foramen ovale before birth, which allows blood to bypass the lungs while developing in the womb. After birth, this opening typically begins to seal and usually closes within the first few years of life. However, it remains open in approximately 25% of people. Most live completely normal lives without ever knowing it's there. We likely never would have known Lucas had a PFO if not for the additional monitoring that comes with his FSHD care.
So, all in all, Lucas earned an A+ at today's heart doctor checkup! We are incredibly thankful for another good report and for God's faithfulness in watching over our sweet boy.
Praise God for answered prayers and another reassuring checkup!
The Hard
A few things were hard this week, too.
We have been encouraged to keep a journal and document Lucas' progression every 3-6 months. This week, we spent time taking videos, pictures, and measurements documenting where Lucas is today, including arm raises, spinal curvature, walking, and other physical benchmarks. We know these records are important and will help us monitor in changes, but it can still be difficult to see everything laid out in front of you.
As parents, it's hard to watch your little boy look so frail. Most days we're focused on all the things Lucas can do, and there are so many of those. But having to stop and carefully document the ways FSHD affects his body can be emotional. It is a reminder that this journey is real, even while our sweet boy continues to face it with courage, determination, and a smile.
This week, Damon and I also decided to undergo genetic testing for FSHD through MyFSHD.org just to have more answers. According to MyFSHD, they help connect families with specialized researchers who perform genetic and epigenetic analysis of the FSHD region of the genome using a simple saliva sample. Most surprisingly of all, the testing is offered at no cost!!!
So, in the kitchen Damon, Lucas and I sat around the kitchen table spitting into tubes to send back to MyFSHD. (That is harder than you think!) They wanted Lucas' too, so they have the markers from his saliva to compare to ours.
We decided to do the testing because, like any parents, we have questions. Did Lucas inherit FSHD from one of us? Was it a spontaneous genetic change? Or is there a more complex genetic story involving mosaicism? The results may not tell us everything, but we're hopeful they'll provide a few more pieces of the puzzle.
One thing we've learned is that genetics can be complicated. Approximately 20% of individuals who carry the genetic change associated with FSHD never develop symptoms at all. Even among people who do have symptoms, the severity and progression can vary greatly. Each person's body seems to tell its own story.
Interestingly, between 10% and 30% of individuals diagnosed with FSHD1 have no known family history of the disease. This can happen in one of two ways:
Spontaneous genetic change, sometimes called a "de novo" mutation. This occurs when a random change happens in the D4Z4 region of chromosome 4. It typically occurs by chance in the sperm or egg cell before conception, or very early in embryonic development.
Somatic mosaicism. This occurs when the genetic change happens slightly later during embryonic development. As a result, the individual ends up with a mixture of cells, some carrying the FSHD genetic change and some without it.
What's especially interesting is that a parent can sometimes be a mosaic carrier, meaning the genetic change may exist only in their reproductive cells. In those cases, the parent may be completely healthy and unaware they carry the mutation, yet still pass the full genetic change on to their child.
Because of all of these possibilities, genetic testing is not necessarily a tell-all answer. However, it may provide us with more pieces of the puzzle and help us better understand Lucas's journey. We are also participating in a research study, and we're hopeful that any information we learn may contribute to a better understanding of FSHD for other families in the future.
For now, we continue taking things one day at a time, celebrating the victories, facing the challenges, and trusting God with every step of the journey.
The Beautiful
I'm sure you know that one of the hardest things for a woman, especially a mama, is to be still.
My mind wants to control everything, find the answers, make a plan, and fix what I cannot fix. But in the quiet, my soul keeps whispering, "Be still."
As we wait for answers and continue walking this road with Lucas, I find myself holding tightly to Exodus 14:14: "The Lord will fight for you; you need only to be still."
Easier said than done, right?
We are doing everything we can. We're researching, documenting, testing, asking questions, and advocating for Lucas every step of the way. But at the end of the day, there are things we simply cannot control.
MercyMe's song - Even If is how I want to position my heart right now. The message is a good reminder that faith isn't about having all the answers. It's about trusting God even when I don't. As much as the mama in me wants to know the why, the how, and what's next, I'm reminded that God is already there. My job isn't to have all the answers. My job is to trust the One who does. ✝️
So for now, I'm choosing to loosen my grip a little. To stop trying to carry tomorrow before it gets here. To trust that God loves Lucas even more than I do (how is that even possible) and that He is already in every tomorrow that worries me today.
I'll keep fighting for my sweet boy. I'll keep praying. I'll keep showing up. And when my mind starts racing ahead, I'll keep reminding myself to be still. ❤️
"The Lord will fight for you; you need only to be still."Exodus 14:14
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