After dreams of a perfect parenthood, Maddison was thrown into the rare disease world and became an unexpected advocate for her daughter and others in the Glut1 Deficiency Community.

Maddison is the Communications Coordinator for the Glut1 Deficiency Foundation. She is a mother and rare disorder advocate. She lives in McKinney, Texas with her daughter, Eleanor. Maddison became involved with the rare disease world when her daughter was diagnosed shortly before her 2nd birthday in 2021. She remains an active research participant in a search for answers as her daughter remains genetically undiagnosed.

Transcript

One hot summer day when I was in the middle of what was going to be my perfect pregnancy, my water broke eight weeks early. I was immediately put into this mindset of everything that could potentially go wrong. I knew that bad things happened, but they always happen to other people at a distance. They can never happen to us. It could never be our story.

I was put into the hospital on hospitalized bed rest and I delivered my baby via emergency C‑section. I'd always imagined the moment that we all see in the movies of them placing the baby on your chest and you getting to breathe them in and soak in all of the success of what you've been working so hard for for what should have been the last nine months, but that was the first moment that I felt was taken away from me as a mom.

I wasn't the first or even the tenth person to see my baby. She was placed immediately in the hands of a nurse and put into an isolette, a small plastic box that was temperature controlled to keep her alive. She had a breathing apparatus put over her face before we could ever even see what it looked like. She had tubes and wires all over her tiny body, and I watched as they wheeled her past me on the way to the NICU out of the OR.

I spent the next 10 hours with pictures and videos being sent to me from her dad from the NICU. I looked at my phone and stared at these photos of her first moments the same way that I would have stared at her if I got to hold her that day.

That night, I was wheeled in a wheelchair down to the NICU and there's a photo of me meeting her for the first time with my hand through the side of the isolette box holding hers. I look at this picture and I feel so bad for myself, but in the moment it felt perfect.

We were released about a month later from the NICU. I had learned all of the aspiration techniques if something were to go wrong. I learned CPR. And I went home, walked out of the hospital doors feeling like, finally, this is over. The hard part is over and I get to continue on to my perfect parenting journey and my child's perfect childhood.

Two weeks later, we were put into the hospital for low temperature. They were looking for what they thought might be meningitis. They decided to do a spinal tap.

I sat in the corner of the room still recovering from my C‑section and I felt warm tears roll down my cheeks as I saw my five‑pound baby be hunched over by a team of doctors and nurses as they delivered a jab to the spine to obtain spinal fluid, the same jab to the spine that I got to get my epidural. As a grown adult, I cried on the nurse's shoulder.

I heard my baby cry that day. I've never heard her cry like that since then.

We were sent home with a clean bill of health and everything went really well, until a few days later our entire world changed.

I was in the kitchen making her a bottle, holding her in my arms and my baby turned blue and began to flail. I started every aspiration technique imagining that she was probably just choking. I even started CPR. And after she returned to me, I remember feeling so relieved that she was back, but terrified that, only moments before, I had imagined what it might be like to never see my baby not blue again.

I called her pediatrician, trying to remain calm, and whenever he responded to me, he said that she was at risk for a rare form of epilepsy due to the spinal tap results.

We rushed to the hospital that day as if the time that it took us to get there was going to change the fate of our baby's future, only to be met by doctors and nurses who brushed off our incident. They brushed off the episode and they sent us home on acid reflux medication.

After a similar incident a few days later, we were ultimately given the referral to genetics.

As a new mom, I believed that we were only going in to rule things out. We showed up the morning of our genetics appointment in Dallas. We were the first slot of the day and I could see the sun rising over the specialty building. I watched a trail of parents walk into the building with children of varying forms of disability, with wheelchairs and feeding tubes. It was a sight that I had never been confronted with, but I watched it feel so terrible for taking my healthy baby into the building. I was in a very serious stage of denial.

When we got to the room, I was met with a genetic counselor and a social worker. They doted on my baby. We made small talk and did all of the family history that we had to do. Then my entire world changed. I heard the words GLUT1 deficiency syndrome for the first time.

They gave me all of the worst‑case scenarios, that my baby could never walk or may never talk. She may have hundreds of seizures a day.

I'm hearing all of this from in this hole and I'm looking at my baby thinking, “That can't be Eleanor.” All I could muster up the strength to say was, “What are the chances that she even has this?”

And they said, “The doctor would be surprised if she didn't.”

I ran to the bathroom and immediately started texting my mom, because I was just learning how to become a new mom myself. I told her everything that I could recall from the conversation that I was barely even able to hear.

I told her that I thought they may have the wrong chart, because that was the only conclusion that I could come to at the time.

When I got back to the room they did the genetic test and we left. I even looked at the discharge paperwork to ensure that it was her name at the top. It was.

Over the next two weeks, we spent the entire time learning about what GLUT1 deficiency syndrome was. It's a GLUT1 transporter in your brain that transports glucose from your blood across your blood‑brain barrier into your brain. Glucose is the main fuel of the brain and without it the brain experiences an energy crisis.

After the end of the two weeks, we received negative results. I did not know at the time that it was possible to have GLUT1 deficiency syndrome without the genetic mutation. We celebrated.

Over the next 18 months, milestones weren't being hit so much that I deleted the milestones app that I was so excited about becoming a mom. And we decided to take her to a neurologist. This was the first step in my advocacy growth journey.

When I got to the neurologist, I spoke up louder this time. This time, she listened. We had all of the tests, EEGs, CT scans, MRIs, PET scans. You couldn't imagine more acronyms. They all came back abnormal.

After all of these tests, it was conclusive that they did think that she had GLUT1 deficiency syndrome, but the doctor wasn't comfortable diagnosing something so rare so we found a neurologist that could.

We got the diagnosis and I looked at it on paper and it was official. There has never been another time in my life that I've wanted to be wrong.

We continued with treatment over the next year from the age of two to three. My daughter spent about once a month in the hospital. I learned the ins and outs of the hospital room, of the nurses. I memorized their names. I learned the perfect position to hold my baby down in to get an IV placed or to have an NG feeding tube shoved down her nose.

I grew as a mom and I learned how to be an advocate. Last year, I was given the opportunity to work for the GLUT1 Deficiency Foundation myself. Now, I've had this full‑circle moment where I've learned how to be an advocate for other people and I've learned how to teach them to be an advocate for themselves.

I'm so proud of our journey and I'm so proud to be the mom of someone with GLUT1 deficiency syndrome.