Charlies Story - Written by Kara Thelen (his mama)

We became proud parents to a healthy baby boy (Charlie) on August 5th, 2020. Due to the COVID-19 pandemic we did not have any visitors, so could not wait to bring him home to the rest of the family. 

From Day 1 I had this feeling that something was not quite right with him, but could not pinpoint what it was.  The entire family continued to love on him. 🥰

Two weeks went by and we were visiting Charlie's grandfather and we started to notice twitching/ spasm movements.  My husband and I looked at each other with some concern but mentally noted and continued on with our nighttime routine.  Charlie woke up as normal during the night however instead of drinking 6 oz he only drank about an ounce.  We weren't sure what to do at that moment so decided to continue monitoring him.  Usually Charlie was our alarm clock but this particular morning, August 20, 2020, he wasnt.  I was very concerned at this point.  As I woke Charlie up and laid him on changing table, he instantly started seizing.  All extremities tensed and came in towards belly, head turned, eyes deviated, a sight no parent wants to see happening to their child.  At that point it was time to get sitters arranged for the other kids and head to the ER.  

Within a couple minutes of arriving at Helen Devos Children's Emergency Room in Grand Rapids, Charlie had a full blown seizure.  We were taken into a room where a dozen doctors were already waiting to get vitals, IV and medication in him.  It was very hard and emotional watching a tiny two week old lay there with many wires attached to him and a handful of doctors trying everything they could to get the IV in.  

After hours in the ER, we were admitted to the PICU for 4 days. Charlie had a variety of tests ran including EEG, EKG, CAT scan, MRI, spinal tap and numerous blood tests. Results kept coming back normal.  My husband and I would look at each other in disappointment and say now what?  Charlie began to get his strength back and we were discharged on August 23rd with no diagnosis and lots of questions. 

After a few more blood tests, we finally had an epilepsy genetic test completed that looks at every gene that deals with epilepsy. November 16th we received Charlie's diagnosis of PACS1.  The genetic doctor told my husband and I that PACS1 is a de novo mutation on the PACS1 gene which means it didn't come from my husband or myself but is simply a mistake that occurred when Charlie's DNA was formed. We were informed the disease is very rare, there is no cure, and there was very little research published. They told us according to the research, most children with PACS1 walk late,if at all, have delayed or no speech, seizures, feeding issues, various medical issues (heart, eyes, kidneys), have Autism like behaviors, and most will require life long care. There were a lot of mixed emotions and questions flowing that day.  All I could do was hold Charlie tight and try to keep my post-partum emotions in check.  That day and for a week was the most overwhelming time I've ever experienced in my life.  

The following few months I mourned the son I thought I would have.  But every day I thank God we were able to receive his diagnosis at 3 months old to begin the lifelong journey of appointments and therapy sessions to assist in his strength and development.  Currently he has two therapy sessions a week consistenting of OT, PT and Speech and Language.  No doubt Charlie would not be where he is today if it wasn't for the amazing therapists and support groups we are apart of.  He has made us so proud already with his accomplishments I cant wait to see what else he'll be able to overcome. 

Finding a cure for PASC1 would mean so much for our family and Charlie.  To watch your child struggle with the simplest movements has been very tough for myself.  If there was something that could help Charlie and all other PASC1 kids to make these movements come more naturally would be huge.  Until Charlie began crawling,  every day he would work so hard to attempt to get to the toy he wanted with failure until it was given to him.  Through the many failed attempts, he never gives up, is determined and works hard to eventually accomplish his goals.  Now crawling all over the house and pulling up to stand behind us, we are working on taking steps and learning how to self feed amongst other things.  

Charlie will always hold a special place in our hearts. We couldn't imagine life without this happy, sweet, loveable little man.  

YOU CAN HELP by donating to this campaign; Donations to this foundation mean everything to our family. 100% of your donation will be used to support research that accelerates treatments for PACS1 Syndrome!