After a year of seeking answers and a diagnosis for her toddler son’s delays and seizure, Erin Coller shares how, one Super Bowl Sunday, a phone call from the neurologist changed their lives forever.
Erin Coller is the mother of two children, including a son with the rare disease Creatine Transporter Deficiency. She and her husband, son Cadman (8) and daughter Emma (6), and their dog Nelson, live in San Diego, California. Erin serves in the volunteer role of director of communications for the Association for Creatine Deficiencies, working to advocate and find a treatment for her son’s disorder.
Transcript
My son Cadman had a seizure a few months ago. He's almost two and he's not walking or talking yet. We have spent about the past year seeking a diagnosis to figure out what's causing these issues.
We have put our son through so many tests, including blood tests and going under general anesthesia for an MRI of his brain and then the whole exome genetic test, which involved blood work for my husband Dan, myself, and Cadman.
This week, I just got the results back from the whole exome test after waiting a couple months and I saw it said that everything looked normal. So, I'm finally starting to feel relaxed and taking a little mental break from the whole diagnostic odyssey of the past year, trying to figure out what's going on because this genetic test was supposed to be kind of the grand finale of all the tests.
And now it's Super Bowl Sunday. I am feeling more relaxed than I have in months. I am about seven weeks pregnant with our second child and Cadman is in bed. I'm wearing my stretchy pants. It's a cozy cool day in San Diego. I'm wearing a sweater and I've made some onion dip which, for the Super Bowl, is like a necessity for me. If I have my onion dip, I feel like it's a party.
For this Super Bowl, my husband and I have decided to just watch it, the two of us at home and keep things quiet. It's exactly the kind of party that I need. My couch, comfy clothes, onion dip and the Super Bowl.
Then my phone rings. It's a number I don't recognize, but I decide to answer it. It turns out that it is our son's neurologist on the phone.
At that moment, I start to kind of disassociate from everything happening around me and my brain just starts thinking, “Why is she calling me right now? It's a Sunday. It's strange for the doctor to call us out of the blue, anyway, when we weren't expecting her to and haven't reached out with questions or anything. And then on a Sunday and during the Super Bowl. Does she even know the Super Bowl is on? Maybe not. She's a neurologist. Maybe she has more important things to do and think about than the Super Bowl. But, anyway, I better start paying attention to what she's saying because it's probably important.”
At this point, I’ve lost my appetite for the onion dip. It feels like it has betrayed me. I just put it on the table as I hear the doctors say some words that turn my world upside down. She is telling us that the whole exome genetic test came back with a diagnosis. It's a super rare disorder that she's never even heard of. It's called Creatine Transporter Deficiency.
I'm somehow able to actually pay attention to what she's saying as she explains this to us. Basically, Cadman has a mutation that was found in the test on the SLC6A8 gene and this causes his body to not be able to transport creatine to where it needs to go. Creatine is a vitally important source of energy for the brain, also muscles, but especially the brain.
So, I'm hearing all this and I'm thinking, “How is this possible? I just saw that the test had normal results. This doesn't make any sense.”
Meanwhile, I'm thinking, “Okay, Dan, he's a science‑minded guy. I think he's going to process all of this better than me,” so I just kind of freeze and let him take over talking to the doctor and asking questions.
But some of the key points that are registering in my brain are the symptoms that she's telling us about this disorder. Most patients who have this are totally nonverbal, suffer from intellectual disability and need care for their entire lives, can't care for themselves as adults, and there's no treatment.
She tells us to go to some websites. She's giving us some resources to look at, to learn more about it. And everything I'm seeing while I'm on my laptop as I listen to the doctor on speakerphone is just completely depressing and hopeless. I'm seeing words like ‘mental retardation’ and I just feel totally unprepared for all of this.
Something important to know about me is that I am a planner. If you were to go to dinner with me and a group of friends, I am probably the person who made the reservation. I have looked up the menu beforehand. I have an idea of what I'm going to order. And if we're running late for the reservation, I will call the restaurant and let them know.
So, in keeping with my role as a planner, I have been doing things preemptively, before we got this phone call and the diagnosis, to figure out what's going on with our son. We actually have an appointment scheduled for tomorrow morning, Monday morning the day after the Super Bowl, with a metabolic specialist, because that was basically the next step to see maybe there's some sort of metabolic disorder going on that had come up. And so we made an appointment with a doctor at the local children's hospital who focuses on metabolics.
I am on the website for the Association for Creatine Deficiencies. As I'm scrolling through everything, I see, and the doctor explains to us, that this new doctor we're seeing tomorrow actually is on the scientific medical advisory board for the Association for Creatine Deficiencies. There are only a few experts out there on this rare disease, Creatine Transporter Deficiency, and the doctor we're seeing tomorrow is one of them.
So, okay, I feel like we have some sort of a plan. We have someone we can talk to who actually knows something about this and can answer all the questions that are starting to pop up in our minds.
And then the doctor we're on the phone with emails the genetic report over to us. I open it and I realized that what I had seen a few days earlier was only a few pages of a report that's about 20 pages long. The entire report had not uploaded in the MyChart system online, so I didn't see all of it. And the page with the actual diagnosis wasn't included.
I immediately have a huge range of emotions. I'm angry, I'm scared, I'm wondering how in the world this happened. How could the medical system fail me in this way and let me see an incomplete report, and send me on this just roller coaster journey over the last few days? But, really, there's no time for any of that. I have to just put it all aside and focus on the information that I have now.
Now, we understand why the doctor has called us on a Sunday evening. It's because of this appointment we have tomorrow. We're just focused on that. After a restless, tear‑filled night, now it's Monday morning and we bring Cadman into the doctor's appointment.
In walks this metabolic specialist who has a big smile on his face, takes one look at Cadman and says, "Oh, my gosh, he's doing great. He seems so much better than the boy I read about on paper. He's doing awesome." So, he puts us at ease a little bit.
Then he starts telling us things that actually give us some hope. He's telling us that this is a disease that is not treatable right now, but it should be treatable. There's no reason why there should not be a treatment to get creatine into Cadman's brain. In fact, there's even a pharmaceutical company working on developing a treatment for it right now.
And there's a study going on at the National Institutes of Health and we're going to get help to get Cadman into it. This doctor is actually going to help us to get Cadman enrolled in the study.
Bottom line, there are things we can do. Oh, my gosh, we will do absolutely anything and everything in our power to help our sweet boy overcome this disease that seemed completely insurmountable just last night.
So, we have hope. It is such a gift to be given this hope and all this information the following morning after getting that devastating phone call. I suddenly have a newly defined role and purpose in my life. I know that this is going to be my mission and, for a long time, I didn't really even feel like I knew what my purpose was in life, but now I do.
And I couldn't tell you who won the Super Bowl. I don't remember who played. But I know my husband Dan can tell you who played and what the final score was.
But none of that is important anymore. The Super Bowl champion is just inconsequential. Now, I know that I'm stepping into my new role as champion for my little boy. That I will be fighting for him every day of my life and doing everything I can to give him a better future and find that treatment for him.