When her 8-week-old son is diagnosed with an ultra-rare neurogenerative disease, Caroline Sahba navigates guilt, grief, and eventually gratitude as she seeks out medical treatments and finds support within the rare disease community.
Story Transcript
It was the Friday afternoon before a three‑day weekend almost three years ago. I was on my millionth trip between the house and the van in the driveway, back hatch wide open, filling the trunk with suitcases, lake floaties, toys for my two‑year‑old daughter, and a weekender bag spilling over with breast pump supplies to feed my eight‑week‑old son. This was our first trip as a family of four, and we were determined to enjoy Labor Day weekend at the lake.
As I was making my way out of the garage with my hands full of the last load for the car, I felt the vibration of my cell phone buried in my pocket. “I'll check it later,” I thought. “It's probably spam.” And I continued to carefully wedge the final bags into the backseat floorboard like Tetris pieces.
I reached for my phone and I saw the ID displayed, maybe, Children's Hospital. I slid the answer bar over to pick up just in time before it went to voicemail.
“I'm calling for the parent of Cameron Sahba,” said the cheerful voice of the administrative assistant from the pediatric genetics office on the other end of the line.
“I'm his mother,” I said, and confirmed the date of birth of my two‑month‑old who had been recently tested for potential genetic cause for his noticeable physical abnormalities at birth.
After we collected his saliva sample and shipped off the swab a few weeks ago, I had put the outcome in the far back part of my brain, behind the everyday tasks of a newly postpartum mother balancing two under‑two, and soon returning to work after maternity leave.
In a tone that seemed almost like she was ordering a Starbucks order, the woman on the phone proceeded to share a string of letters in an order that was completely foreign to me. I asked her to pause so I could get a pen to write down what she was trying to tell me as my world was slowly stopping spinning. The closest writing tool I could find was a dry erase marker.
“Mutation of the NALCN gene, causing a condition called CLIFAHDD.” C-L-I-F-A-H-D-D.
What I didn't know was that these 13 letters jotted down on my refrigerator whiteboard would forever change my identity in every way possible.
A million questions flooded my mind. Why isn't the doctor calling us? I'm googling this and only three articles are popping up, and some involve premature death. Is my infant going to die? Will the genetics doctor be able to explain this better next week? We have to meet with him via Zoom? Really? We can't talk to him in person? Is there anybody else living with this?
That four‑hour drive to the lake felt more like 40. I was sobbing with fear that my child would never have a normal life, or worse, not live at all.
Over the next several months, we met with specialist after specialist, multiple appointments per week, trying to understand Cameron's disease and his developmental delays. Even though we had no idea what his future abilities would be, we knew we were not willing to accept what providers kept telling us. “We've never seen this.” “Let's wait and see.” “Let's wait and see.” “Let's wait and see.”
So we sought out second opinions, and then third opinions. At the time, we were told Cameron was one of less than 100 individuals in the whole world who had been diagnosed with CLIFAHDD.
As a rare disease parent, you get highly skilled in scouring the internet for answers. So I was awake at about 3:00 AM one morning searching and wondering if I would ever find someone who had heard of this disease before. To my amazement, I found a small foundation called Channeling Hope. It's created by a family with a child with the very same genetic variant as my son.
I could not type fast enough to send the founder a message. And a few days later, we talked on the phone for two hours. I finally heard words like, “Me too. My daughter is the same way.” And I felt my shoulders relax for the first time in about 18 months.
Through the foundation, we felt fortunate to find a pediatric neurologist who was on the scientific advisory board who had actually seen one or two other patients with Cam's condition, and only a short 250 miles from our home. But honestly, we would travel 2,000 miles if needed. We were hesitant to visit now a third hospital system, but desperate to see hope or, shoot, even just willingness to explore the rarity of his ultra‑rare disease.
Sitting in the passenger seat during this five‑hour drive, gazing out into the hay bales and cows off the Texas highway, my mind wandered to the painful first few encounters with specialists at the first Children's Hospital that we had visited. I typically spent 90 or more minutes in a waiting room just to spend five in the exam room. We'd become accustomed to having several medical students or others coming into the exam room in each new visit to observe. Now, I'm all about advancing awareness and research for rare diseases, but it did feel like a spectacle at some times in the process.
Not one, but two different providers had told us, “I researched this genetic mutation last night for an appointment today.” Very comforting.
And as if the emotional toll of a rare disease parent isn't enough, can I just share how inefficient the process is for sharing medical records between doctors? In an effort to share our son's MRI with his new neurologist, I spent three weeks communicating with the medical records department of the first hospital before getting a mailed physical CD copy with the images of his brain.
I'm a millennial, so I do know what a CD is. And I also know that no laptop manufactured since 2010 is equipped with a CD player. So, now I was lugging a physical CD, an external CD player, an adapter cord, and a bulky old laptop that we borrowed from our IT guy at work. All in a bag, on the floorboard between my feet, just to show this doctor a picture of my son's brain, because, God forbid, a picture like that could be sent electronically.
From the very first moment that we met this new neurologist, he greeted Cam directly with a sweet, “Hey, there, cutie.” And we exhaled, knowing that we had found something different, someone who would care for my son as a child, as a baby first, and a patient second.
He spent nearly two hours with us and Cam, sitting calmly, fully present, without the barrage of residents, I might add, asking us questions about our hopes for our son, reflectively listening to our answers. Now, it wasn't that this doctor had every answer about the disease, because realistically there's still so much that hasn't been researched about it yet, but it was the empathy and the curiosity that he displayed that gave me hope for Cam and for our family's future.
We continue to visit this doctor every six months and have since referred other patients from the Channeling Hope community to him. I felt a calling to get more engaged with the community of families across the globe who are having similar experiences to us.
When I searched social media for NALCN, only a handful of posts that were a couple of years old popped up. That felt like isolating and doom. It was overwhelming.
I decided to create an Instagram page for Cam. My objective at first was to simply bring awareness to this ultra‑rare disease, but I quickly realized that silly posts of him in physical therapy or me sharing humor about being a rare disease parent would create opportunities to change the trajectory of other families who were first receiving their diagnosis.
On a random Monday afternoon, I received a message from a mother in the UK, someone that this Texas girl would have obviously never encountered otherwise. She shared that she had received her eight‑month‑old son's diagnosis less than 24 hours before finding our page. She asked me how Cam was at that age. She asked about his feeding, his sleeping, his development, all of the same questions that I had myself when we first received our diagnosis. Except, this time, she had someone to contact immediately.
A wave of amazement and gratitude fell over me, realizing that I was actually making a difference for this mother and this family who was hearing their news for the first time. This was the first of many direct messages that I've received from desperate parents who just want to know that their child is okay. I was that desperate mother.
And today, I have the privilege of sharing our experience, strength, and hope with families who are at the beginning of their journey. I'm grateful to share about Cam's progress, his diagnosis, his treatments, our coping mechanisms, as well as the grief and the challenges of being a rare disease parent.
Today, we still go on road trips. And sure, the destinations for some trips have shifted, from the lake to an out‑of‑town doctor's appointment instead. Some vacations have turned into us traveling to meet other families in the NALCN community. Planning trips now includes finding accessible playgrounds along the way for both of our children to enjoy.
Absolutely, our schedules, our priorities, future plans have all changed drastically over the past three years since Cameron was born. As the result, I have gained immense purpose and perspective that has made me a better mom and a better human.
I saw a bumper sticker recently when I was driving that said, “Life is not about waiting for the storm to pass. It's about learning to dance in the rain.” And I thought to myself, while glancing in the rear view mirror at my beautiful, sleeping son, his pink cheeks and his long eyelashes, I'm so glad that we learned how to dance.
Thank you.