Maddie was born on April 20th, 2020. She was beautiful, healthy and 7 pounds 12oz. In her first four months of life, Maddie’s days were filled with smiles, cuddles, social distanced visits and her favourite activity- baths!
On September 17th, 2020, Maddie had her first seizure. I was walking by her room and heard a rustle and found my sweet baby girl lying with her eyes staring straight back and to the right.
I tried to get Maddie back to herself and yelled out for Cam to call 911. After 3 very long minutes, Maddie started blinking again and looking up at me. It was that day that everything changed for our family.
After staying overnight at our local hospital, we hoped that this was a one-time seizure, and that Maddie could go back to herself. However, at 6am the next day, it happened again. Luckily after pushing the emergency button, we were able to get her out of the seizure after 3 minutes. After a few days at the hospital, and a normal EEG, we went home with the hope that this was a virus. We were so happy our little Maddie was home and safe.
We had Maddie back home for two weeks before her seizures started again. I watched on the monitor as Maddie was waking up and ran upstairs to her having a tonic clonic seizure for several minutes. Maddie had two weeks of worsening seizures at SickKids (including two code blues in the middle of the night where it seemed the entire hospital was there) Her seizures were 5-7 minutes long and most of the time required emergency medication by an IV. We are forever grateful for the incredible care Maddie and our family received at SickKids.
During these two weeks, Maddie had so many tests done- including lumbar puncture, MRI, EEGS etc. and we waited on edge to find the results of what was causing our brave little Maddie to have seizures. Despite being hooked up to an IV for medications, Cam and I looked in awe at Maddie as she continued to smile at everyone and play with her toys in-between these scary tests and events. We were so proud of her. While all of Maddie’s tests came back normal, her seizures finally stopped when we added a new medication called phenobarbital. After several days without seizures, we were able to go home, and we were very grateful for the support of our families throughout. While we still didn't have a cause, we were so relieved Maddie was safe and doing well. After three amazing months of no seizures, we thought Maddie would not have another seizure.
In January, at 8 months old, Maddie started to have seizures once a week again. In February, Maddie was admitted overnight to SickKids with prolonged seizures. We stayed at SickKids for over a week as we tried to get them under control. At the time due to Covid, only one parent was allowed in so Cam and I would take shifts. Maddie was always so excited for bath time and play time with Dad.
We found out more information through overnight video EEGs that her seizures were generalized; although they continued a few times a day for several minutes. It was only when we added a vitamin and a third medication topiramate that the seizures stopped. On March 22nd, Maddie had one more seizure. We know things change extremely quickly, but we are so grateful for our Maddie that she has been seizure free since March.
This past summer, we received a call from SickKids asking us to come in for genetic test results. We knew this wasn’t good news as we needed to come in person- but I was not expecting to learn what we did. We learned Maddie had a very serious and ultra rare genetic diagnosis called SCN8A. We were told that 400 kids in the world had this (and I said wait did you say world???) This rare disorder was only discovered in 2010 and causes unrelenting seizures with most cases being severe. We learned this causes major development delays with high risk of plateauing- most kids cannot walk and talk. It is also a de novo variant- meaning it is random at conception and Cam and I do not have this mutation. There is not a cure right now, and choosing medications is a process of trial and error which we have been living. There are also other potential medical issues for our Maddie.
Maddie is a happy little girl with big smiles for everyone she meets. She is incredibly determined and we urgently want to find a cure for our precious Maddie so she can walk, talk, and continue to be seizure free.
Thank you for supporting SickKids, as they work to help make a difference in the lives of SCN8A patients. We are so grateful to you for helping to support kids like our brave Maddie.
If you would like to read more about SickKids and the SCN8A research study, please click HERE