That first night

He had been sick, with another cold, and several months prior he’d had a hard time with a virus he’d picked up, so we were co-sleeping. At about 9.30 that Thursday night, I felt some kicking in my back. I thought he was dreaming at first, but it was very rhythmic. And it didn't stop. When I called his name, he didn’t respond. All at once I found myself in one of those situations every parent hopes never to experience. He seemed to be having a seizure. Trying my best to stay calm in the face of this terrifying situation, I called for my husband, and we immediately called for an ambulance.

What happened next is a bit of a blur. I had no idea what was happening, but as for the seizure, I do remember noticing one side of his body and his face were drooping. I thought he was going to die or that he was having a stroke. We would later find out that this was a temporary condition called Todd’s Paralysis, which is something that can happen after someone has a seizure.

Generally speaking, a tonic-clonic seizure lasting more than five minutes is considered a medical emergency.

Dawson seized for almost 30 minutes.

We’d almost arrived at the hospital by the time he started to come around a little bit, but he was still very disoriented and his left side weak. In the space of an hour, we’d gone from a typical night, to thinking our son was going to die. The hospital carried out testing and a CAT scan, which looked normal, and eventually we were allowed back home.

But as the weeks and months passed by, the seizures continued.

Learning what we are up against

Looking back, it’s clear that he was also having other seizures which we didn’t even notice. Those ones are called absence seizures, and they can be hard to spot as it just looks like you're daydreaming or staring. But they are seizures. I can recognize them now, but back then we just didn’t know.  With my spare time, I try my best to help to raise awareness so that people know what to look for. I just don’t think most people realize that it’s even possible for a person to talk and walk during a seizure. Not all seizures are convulsive or make the person go unconscious.

As Dawson's condition progressed, we experienced other tonic-clonic seizures. He’s had five in the past two years, and we’ve had to try many kinds of different medications, including a year of high dose steroids. Getting the right medicine or medicine combination can be very difficult for those with seizures.

At one point, Dawson was monitored with an overnight EEG to find out what was going on and was diagnosed with ESES (Electrical Status Epilepticus in Sleep), now referred to as DEE-SWAS. This condition is only experienced by less than 1% of all kids with epilepsy, so it’s very rare. It means he can have seizure activity in his brain all night long, even though we can't see a seizure. If the spike waves or electric bursts progress to a full tonic-clonic seizure, then we would see it, but while he's asleep it’s invisible. We don't see all that electrical activity going on in his brain – but it's like a big storm happening. And it's doing damage. This is what has caused him to have a hard time with new memories and has affected his development and ability to learn.

A period of regression

Following the initial seizures, Dawson went through a period of regression, where among other things he lost the ability to read and write, and to do any math. It's such a scary situation for parents, and it’s made worse by the fact that, as a rare condition, there's not a whole lot known about it. Even the doctors don’t know, and there are very few experts in the world.

After several failed medications, Dawson was placed on a high dose of steroids for over a year, which was very hard on him - causing his body to swell up and his immune system to be very weak - so that involved yet more tests and added medication.

Positive steps and progress

One of the positives in our story is that we are fortunate to live near to the number one hospital in the country, Cincinnati Children's Hospital. We were very blessed to have resources available to run various tests, including the MRI scan that revealed a brain injury to his right thalamus, and the EEG which revealed the distinct spike wave pattern that first alerted the doctors to his ESES/DEE-SWAS.

In January 2022, the doctors carried out some genetic testing. The first tests included an epilepsy panel, but that didn't come back with too much aside from some variants of unknown significance. We pushed for a WES test (whole exome sequencing) and in January 2023, the results showed he had a genetic mutation, a variant to his ANKRD17 gene. Sometimes your cells can just do their own thing and mutate, and that is what happened with Dawson on one copy of this gene.

The doctor who recently co-discovered the ANKRD17 gene is Dr. Maya Chopra, a clinical geneticist and Assistant Professor at Harvard Medical School. She leads an international research study at Boston Children’s Hospital to better understand this rare neurodevelopmental disorder which has been named after her: Chopra-Amiel-Gordon Syndrome or CAGS for short. Dr. Chopra now works closely with us on Dawson’s progress and any challenges. We hope to one day have targeted treatments or a cure.

2023 saw the 40th anniversary of the Orphan Drug Act which gave hope to the hundreds of millions of people around the world who are directly affected by rare disorders (also known as "zebras," because they are less common than horses). I’ve been closely following Elsevier’s ambitious Year of the Zebra initiative as they aim to educate the world about these conditions and have also seen the great work that its Osmosis team has been doing to create learning materials in this field.

So, it was like my work life, and my personal life somehow became aligned. I'm very proud of the work that RELX and Elsevier are doing to help researchers, help medical students, and help doctors find treatments and cures. Even with these rare disorders, they often end up finding a cure or a remedy to help ease the symptoms of other more widely diagnosed disorders as well.

I’m hopeful and excited to be able to help with this research. Our family is now part of a study with Boston and Harvard, and I'm also working with the Osmosis team internally to raise awareness of CAGs and Epilepsy with ESES/DEE-SWAS. Hopefully that will help others to learn, or to be tested, or to know what to do when they see somebody having a seizure and maybe they won’t have to be quite as scared or feel quite as alone as I did.

A brighter future

The year-long steroids treatment did not stop Dawson’s ESES/DEE-SWAS which was what we were hoping for, but they did help to reset some things cognitively. Dawson does still have spike waves at near 100% and we're still working through what CAGs means for him in the long term, but he is now making progress and learning, and that has been wonderful to see. Every week he works with specialists on speech, occupational therapy, physical therapy and with academics in a multi-sensory approach, which has all helped him to learn and to stop the regression.

Dawson is doing better these days.

So now we want to raise awareness, to help others and to try to take this life-changing thing that has been so hard, and turn it into something good, and hopefully to one day find a cure. I really feel like our company is in a great position to help make some strides in this area. Doctors and researchers are finding new variants and learning more about genetics at lightning speed and with AI coming in, it's amazing what could happen for patients, parents, research and treatment options. Maybe sharing our story can at least help somewhat.