Griffin's Story

Griffin was a very active, silly, and caring 5.5-year-old boy. He had just finished Pre-K and was hitting many milestones typical of late kindergarten; he was thriving. Early in the summer of 2023, we noticed a short episode in our family room where Griffin didn’t respond to us and seemed a bit limp. When he came out of it laughing, we thought he was just playing. Two days later, at the beach with my sister-in-law and his cousins, Griffin had a noticeable absence seizure. He emerged from it crying and distraught, but then went off to play at the playground. As a nurse, I recognized what had happened, but I tried to remain calm, unaware of how much our lives were about to change.

Just two days later, while eating lunch at home, Griffin had a tonic-clonic seizure. Thankfully, his sister was at summer camp and his little brother was sleeping. It was one of the scariest moments of my life; he turned blue, and I felt completely helpless. As a nurse, I wanted to hit a code blue button, grab my oxygen and suction equipment, call my team for help, etc., but it was just us and our child, waiting for EMS.

The rest of the summer was filled with hospital visits. We began at the U of M Masonic Children’s Hospital, which is very dear to my heart. We had a wonderful neurologist, but we struggled to get Griffin’s seizures under control. His MRIs and autoimmune tests were normal, his initial genetic testing was normal, but the EEGs were very abnormal. By then, he was on three anti-seizure medications, and we added a fourth (Keppra, Vimpat, Clobazam, and Depakote)

We decided to reach out to the Minnesota Epilepsy Group, which collaborates with Children’s Hospital Minnesota. Here, we worked with an epileptologist. Right before Christmas, our sweet warrior underwent another MRI (normal), lumbar puncture (normal), autoimmune panel (normal), and EEG (abnormal). His epileptologist recommended a round of high-dose steroids and added a new medication (Felbamate). Although Griffin gained a lot of weight from the steroids, we experienced a stretch of 10 days with no clinical seizure activity, which felt like a significant win!

Things slowly returned to being uncontrolled. Over the next 2-3 months, we made minor medication changes (Trileptal vs Vimpat) and tried IVIG twice due to his positive response to high-dose steroids. By April, we were in a terrible spot: seizures were frequent, sometimes lasting over 20 minutes, and he wasn’t responding to rescue medications. The doctors considered moving him to the PICU (pediatric ICU). Thankfully, we switched our epileptologist, who then helped stabilize his condition.

By now, it was the summer of 2024, we continued working with her in the cities while pursuing another opinion at the Mayo Clinic. At Mayo, Griffin underwent another MRI (normal), lumbar puncture (normal), specific lab work, GenDx testing (normal), autoimmune panel (normal), and another EEG (abnormal; but not canditate for surgical intervention).

Almost a month later, on a Friday, we received a lab result via an online portal...Griffin has Mosaic Ring 20 Chromosome Syndrome. I have a love-hate relationship with these portals; receiving such difficult news without anyone to discuss it with until Monday was challenging. We quickly learned that it’s an extremely rare genetic condition. It occurs when the 20th chromosome forms a ring shape. Unfortunately, there isn’t much known about this syndrome, and no pinpoint treatment exists.

On Monday, we learned that Griffin’s genetic change is unique to him within our family—a change that occurred after conception. "Mosaic" means that only 30% of the sampled chromosomes had the ring chromosome, while 70% were normal. However, there is no research indicating whether this percentage affects the severity of symptoms. In Griffin’s case, the ring formation at the 20th chromosome does not result in any missing or added genetic material; instead, it causes dysregulation. Notably, we were informed that few facilities conduct the type of karyotype testing that the Mayo Clinic performed, which involved examining his chromosomes under a microscope to identify the ring.

While we now had a why, due to the little known about his genetic disorder, it didn’t really provide us any direction on where to go with his treatment. Griffin’s seizures remained very uncontrolled. Throughout the summer/fall of 2024 we spent 3 months working onto a new medication (Lamictal vs Trileptal) that ultimately was causing odd triggers and worse seizure control, these odd side effects improved coming off it (back to Vimpat vs Lamictal).

In addition, throughout this same time period Griffin was an absolute trooper and did amazing following the Modified Atkins Diet. He reached great levels (urine and blood levels) of ketosis. However, this also caused him more side effects than benefit. He was chronically fatigued and was having more not less seizures, even after 3.5 months on the diet. This led to us weaning him back in to a regular diet and as we did this we thankfully saw some energy and personality return.

Throughout the fall/winter of 2024, Griffin really continued to struggle. Struggle with side effects, daily seizures continued, he was having about 1 prolonged seizure a month...the year had been hard. We decided to start trying a medication called Epidiolex. We initially saw some benefits, but every time we attempted to go up in dosage, side effects became overwhelming ultimately causing more seizures.

Following a week in January 2025 that consisted of 4 seizures lasting 25 minutes, along with multiple daily seizures, we decided enough was enough. We went inpatient again and this time for 13 days. During this hospital stay, we completely came off of Depakote and increased his Epidiolex, it was a rough 13 days to say the least as his body adjusted to this change.

Following his 13 day hospital stay, we came home for the weekend and went right back for VNS placement. Griffin did so good. He was so unbelievably brave and interested in the device. The VNS incisions healed well, and it was turned on two weeks later. Griffin’s body, again, tolerated this so well! He had no real change in voice and no discomfort when it sent an impulse. Following that visit the VNS will automatically increase in impulse strength every 2 weeks for 10 weeks.

It is now almost April. Some positives we have seen are increased energy, improved personality, ability to make it to half days of school, less emotional/angry outbursts, and shorter seizures/shorter postictal phases. We also have not had a prolonged seizure since leaving the hospital in January -praise the Lord! However, some of the negatives have been days of dealing with many side effects including confusion, inability to focus or retain information, unsteady walk, nausea, inability to learn, etc. He is also loosing a lot of weight, making mg/kg dosing hard and possibly increasing side effects. This may be due to starting Concerta for ADHD (has been a game changer for school), coming off of the Depakote which may have been causing weight gain, or another factor.

He continues to have no obvious triggers (possibly fatigue; mental and/or physical). The frequency and nature of his seizures seem to change depending on the medication combinations we try. At times, he experiences a lot of nocturnal seizures, while at other times, he clusters short daytime seizures. His seizures are typically focal but can also be absent or partially aware. As of spring 2025, he is on four anti-seizure medications, Epidiolex (liquid form of CBD), and Concerta for ADHD and still – I can’t remember the last time he had a seizure-free day.

Everything in our life has had to change. His older sister has become a tremendous help and advocate for him, while his little brother constantly checks if he is “okay.” Coping with these changes and the uncertainty of our family’s future has been indescribably challenging. The weight of our decisions feels immense. However, we are incredibly fortunate to be surrounded by supportive family, friends, community, church, school, etc. Without these people, I can’t imagine where we would be. We have learned to give ourselves grace and to take life one day—sometimes even one hour—at a time. We lean on our faith and accept help from those who offer it.

We have hope for our son's future and will continue to advocate for him and explore new options. We are deeply thankful for those who support us.

Our hope is to provide additional support, hope, and encouragement to other families navigating unexpected and difficult journeys with their children. While we will focus on Ring 20 and Epilepsy, as a pediatric RN, I have also witnessed many other challenging experiences that no parent would want to face with their child. These families have inspired me for over a decade and have shaped how I am navigating my own journey as a parent of a medical warrior. We aim to support families navigating other neurological life-altering diagnoses with their children as well.

God has led our hearts to take this situation and find purpose in our pain and struggle. Thank you for your time and for your support for our family, our brand, and our foundation. As Griffin’s current favorite show Pokemon would say... “the journey continues.”