Finding Hope in Our Journey with 3 Medically Complex Children: Acceptance into the Undiagnosed Disease Network

I’ve been quiet. For a long time.

Once again, I am using my IBD patient advocate platform, to create a space of awareness for our 3 tiny warriors. I used to think my own dance with Crohn's disease made me tough. I’ve spent hours hooked up to infusions, been a human pincushion, and powered through the heavy side effects of steroids. But I officially have nothing on my kids. The sheer, unwavering resilience they show every single day is staggering. They are the strongest superheroes I know, and I am in awe of them.

I took a hiatus from writing not because I ran out of words (if you know me, that never happens), but because navigating the healthcare system for medically complex kiddos takes an incredible amount of stamina that has left me mentally and physically exhausted.

But lately, the heavy clouds have started to clear slightly, and we are finally seeing some sunlight.

Before I dive into our medical updates, I need to say a sincere thank you. To those of you who reached out, your kindness has been the fuel in a very empty tank. I know I haven't been able to reach out to each and every one of you, but please know, I feel your love. Human decency goes a long way when you're managing complex health puzzles, and your support has been a massive bright spot for our family.

If you were to look at my calendar, you’d think I was auditing medical school. We have had, and will contnue to have appointments (for all 3 kiddos) with caridology, opthalmology, orthopedics, rhuematology, neurology, gastroenterology, dermatology......and every other specialty that ends in "ology." Ryan affectionately refers to our family as the "X-Men," which is a highly accurate assessment of the mysterious complexities—and the formidable, awe-inspiring resilience—our kids demonstrate daily.

Here is the clinical reality: our children are navigating a labyrinth of rare symptoms that refuse to fit neatly into a single diagnostic box. We are hunting for a Connective Tissue Disorder (CTD)—a genetic mutation affecting the proteins that hold the body's cells together. Think of it as faulty mortar in a brick house. We’ve run the genetic panels, and they’ve come back negative so far. But as any rare-disease advocate knows, a negative test doesn't mean a dead end. It just means the specific genetic typo we're looking for hasn't been cataloged by science yet. We are just waiting for the research to catch up to our kids' unique genetics. Speaking of, here is an update with each one.

Guy: Our Resilient Leader

Guy continues to be our primary medical enigma. We are currently monitoring his dilated aorta and aortic root—structural heart issues that require constant vigilance. But it’s the daily, systemic grind that he handles with such incredible grace.

His joint pain is a frequent visitor. Last week, he was in the nurses office every day. I sent a video of Guy experiencing extreme leg pain to his pediatrician. I didn't want to send it because it was so excruciating as a parent to watch, and I still can't face the legitimate pain Guy has around the clock. That's when my mom hat comes off, and I move into "beast mode," where I will stop at nothing to get answers for our children.

Sometimes the best way to demonstrate physical pain is to show them. Do you know what it's like to create a pain log for your 6 year old? It’s tough to watch a kid who just wants to run and play have to learn his own physical limits so early in life. Yet, the sheer volume of grit and positivity he displays on a daily basis is staggering. Instead of maternal guilt, I am trying to focus on maternal awe. He is a warrior.

Alice: The Diagnostic Power of a Mother’s Gut

Then there is Alice, our literal ray of sunshine. For years doctors dismissed what we thought was a birthmark (what we call "cutey mark") on her hand and back. But maternal intuition is essentially a highly calibrated threat-detection system. My gut said we needed to look closer, and a recent dermatology appointment proved it: it wasn't just a birthmark, it’s a calcified malformation. Even more illuminating is an identical mark in her sacral region, located right over a palpable mass. I’ve suspected a tethered spinal cord—a condition where the spinal cord is abnormally attached to the tissues around the spine, restricting movement and causing nerve damage. Upon mentioning this, I got the look. We all know that look. "This lady is crazy look."

But finally, a specialist listened. It was a massive victory. They confirmed the mass could be fatty tissue, or it could be a tangle of blood vessels restricting her spinal cord. A tethered cord can trigger a domino effect of neurological, behavioral, and physical symptoms. Given Alice's ASD diagnosis and her new onset of leg and foot pain, we are finally looking at a potential systemic link rather than isolated incidents. Having a doctor validate those concerns was incredibly validating. Note to self (and all of you): Never ignore your gut. Doctors hold the medical degrees, but you are the expert in caring for your children.

Lucy: Grace Under Pressure

Watching Lucy navigate life is like a throwback to my own childhood; she is incredibly strong and resilient, pushing through frequent illnesses while keeping her struggles closely guarded. Lately, it has been tough to watch our once-competitive swimmer retreat from the sports and activities she used to love. She battles extreme fatigue—currently attributed to the same carnitine deficiency her brother and I share—but after noticing swollen extremities and a familiar butterfly rash on her face during a recent vacation, we feel there is a deeper underlying issue at play. Given my own history with drug-induced lupus, her symptoms hit incredibly close to home, and we are now exploring the very real possibility of an autoimmune disease.

I left out A LOT of the nitty gritty details, deep anguish we feel on the regular, and the intense heartache both Ryan and I carry. Mostly because it has become my full time job carrying for our Burnett angels, so to write down what our children experience each and every day, is very painful for me. There's no place I rather be, but if I can be completely raw and transparent here, I don't recognize myself anymore. The emotional stress has taken its toll on me, which is why I'm going to switch gears and announce some wonderful news.

Here comes the exciting part........drum roll please!!!

OUR ENTIRE FAMILY HAS BEEN ACCEPTED INTO THE UNDIAGNOSED DISEASE NETWORK (UDN)

Just when I was feeling the fatigue by the fragmented medical system, the phone rang. It was our genetic counselor. I knew right away it was something big because her tone was different. There was a pep in speech. I listened intently, and she shared that our family of five have been accepted into the Undiagnosed Diseases Network (UDN). The invisible weight I’d been carrying just shattered. My legs gave out, and I sank right to the floor. An intense, visceral wave of emotion surged through every vein in my body, and the dam completely broke. I sobbed. Deep, breathless, chest-heaving sobs. Tears for Guy. Tears for Alice. Tears for Lucy. I had the incredible realization that the weight was finally being shared.

For context, the UDN is a research study funded by the National Institutes of Health (NIH). It brings together clinical and research experts from across the country to solve the most challenging medical mysteries. Acceptance into this program means:

• Access to elite specialists who actively look for the "impossible" cases and love a good challenge.

• Advanced genomic sequencing (like whole-genome sequencing) that looks far beyond standard clinical exomes.

• A collaborative diagnostic model where doctors actually share data and speak to one another across specialties.

  
  

It isn't a magic wand, but for the first time in a long time, we aren't shouting our symptoms into a void. We have a world-class team, we have data-driven direction, and we have profound hope. If you are navigating your own medical mysteries, please know you aren't alone. Moving forward requires organization, confident advocacy, and a lot of hope. Here are a few things that have helped us take back our power:

• Be the BOSS of Your Child's Records: Maintain a master binder or secure digital folder with all clinical notes, imaging reports, and lab results. My spreadsheet is my greatest tool for keeping everyone on the same page.

• Advocate Confidently: Do not hesitate to push for second opinions or request referrals to research programs. Your questions are valid and necessary.

• Build a Dream Team: Cultivate a healthcare team that communicates. Find the specialists who are willing to look at the whole picture and collaborate.

• Protect Your Bandwidth: You can't pour from an empty cup. Find time for whatever recharges your battery, even if it's just five minutes of silence with your favorite podcast.

  
  

This journey is long and frustrating, but the resilience our kids demonstrate makes me so incredibly proud to be their mom. We are stepping into this next chapter with our eyes open, a brilliant team behind us, and a lot of optimism for the future. Living with complex medical challenges means facing uncertainty daily. Yet, hope and resilience grow from the small victories and the strength found in community. Our journey is far from over, but acceptance into the Undiagnosed Disease Network has opened a new chapter filled with possibility.

Every family’s path is unique, but sharing experiences can lighten the load and inspire courage. If you are navigating similar challenges, remember you are not alone. Reach out, seek support, and hold on to hope. Together, we can face the unknown with strength and determination. I am going to leave you with one of the many beautiful sunsets we were so lucky to see in Anna Maria Island.

"Breathe. Let go. And remind yourself that this very moment is the only one you know

you have for sure."

St. Jude Prayer for Healing (thank you, Mom and Grandma Connors)

Most holy Apostle, St. Jude, friend of Jesus, I place myself in your care at this difficult time.

Pray for me; help me remember that I need not face my troubles alone.

Please join me in my need, asking God to send me consolation in my sorrow, courage in my fear, and healing in the midst of my suffering.

Ask our loving God to fill me with the grace to accept whatever may lie ahead for me and my loved ones, and to strengthen my faith in God's healing power.

Thank you, St. Jude, for the promise of hope you hold out to all who believe, and inspire me to give this gift of hope to others as it has been given to me.

Amen.