Welcome to The JamSquad Fundraising Page!
For those who don't know our family I am Ali Irwin and my husband, John and I have been together since we were in High School. John is currently active duty in the US Air Force and I am a stay at home mom. We live in Northern Virginia, with our 4 children and our dog. Our Youngest son Jameson is our STXer, he will be 2 in October.
My pregnancy and delivery with Jameson were typical. From the moment he arrived he always brought an overwhelming sense of peace to the room. At first we noticed that he was a very sleepy baby, which in hindsight now makes a lot of sense. Everything seemed to be fine. Until it wasn’t.
One morning, when Jam was just 3 weeks old, during our 4 am feed I felt his leg “twitch” for the first time. It was subtle. Almost like a flutter, but something about it just felt… off. It wasn’t something I had ever experienced before. I felt him flutter like that a few more times through the day, mostly around his feedings. I noticed that it was just his right side and would only last a few seconds. I felt crazy but went with my gut and scheduled an appointment with the nurse at the pediatrician’s office for the next day. She looked him over and mentioned reflux. We decided to hold off on prescribing reflux meds. He was due for his 1 month check the following week and she told us to try some gripe water and watch him over the next few days. He was sleeping peacefully when we arrived home so I let him sleep in the carrier for another 30 minutes.
When I took him out of his carrier his whole body was rhythmically and repeatedly tensing. I tried everything to snap him out of it. It lasted over a minute and I went to grab my phone… (WHICH FELT COUNTERINTUITIVE... BUT I NEEDED PROOF) and immediately sent the footage to the NP. The nurse called me back within 10 minutes of receiving the video and said “this is a seizure, get him to the ER NOW!” The next thing I remember was holding my tiny baby’s hand in the backseat of the car. I did not think he was going to survive this hospital visit.
He had 2 more seizures in the ER while we waited to be seen. The nurse told us that our job was to get it on video and call him the moment we saw ANYTHING, no matter how small. Within the hour Jameson was seizing again – even more severe than the last and longer. Luckily, John caught it on video and Jameson was automatically admitted. Later that night, as we were transported to the PICU, our amazing nurse, Scott, said that without the videos they would have just sent us home. Those videos saved our son.
Jameson's first Thanksgiving was spent admitted to the hospital. The doctors said that there are 3 reasons for these seizures: an infection, a physical brain injury or a genetic condition. The quest for answers began, MRI, CT, EEG, and Blood testing. As the tests kept coming back normal we were more and more confused. Three days later he was discharged with scripts to combat his focal seizures and an order for genetic testing.
Within 2 weeks, on December 9th, before we could get the genetic test results back the seizures broke through. Keppra was given through IV, and his phenobarbital dosage was increased. His brain quieted and we were able to go home within a matter of hours.
The genetic counseling call came in on December 13th. It was a Tuesday. Jam was just over 5 weeks old. A man’s voice came through the phone confirming my information. He introduced himself – I couldn’t remember his name if my life depended on it. His exact words were, “We have your results back. Jameson has a condition called STXBP1. I have an appointment with the genetics specialist for you virtually on Thursday at 11:50am. Google it. Come up with questions and we will speak Thursday.” I remember hanging up and calling John at work. I read the letters out loud and did a quick google search. We called our families and asked them to send us any questions they may have after “googling it.” We had no idea that this telehealth visit with the genetic counselor was going to be so unhelpful. The majority of their responses included “we don't know.” Or “That is a question for your neurologist.” It felt like everything that we were learning was pulling us to our knees. All of the “he won’t ever” rhetoric was crippling, as a parent. All we could see at that moment was our sweet guy slipping into an incredible amount of uncertainty.
Most of January and February were spent in and out of specialists’ offices and hospital stays. Our neurologist was extremely cautious and brought us in for several EEGs to be sure Jameson was not having Infantile Spasms. The next big hurdle.
We added Eprontia in January 2023 (rounding us out to 4 anti-seizure meds around the clock) following more abnormal brain activity during an EEG in hopes of combating the potential for spasms. In mid February our greatest fears came true and the infantile spasms took hold. I will never forget his screams. Thankfully, we caught them within a week of them starting and he was put on a HEAVY hitting steroid - ACTH which needed to be given via injection several times per day.
Jameson tolerated the injections well. The biggest change we saw in him while he was on the steroid was weight gain ("moon face"). I remember feeling like I missed out on his infancy because the fear was always looming - when would his seizures return? At times I felt like I was just waiting for his next seizure to pop up. Always having a hospital “go bag” packed and ready, honestly I still have it sitting on his closet floor, ready to go even though it has been over a year since his last known seizure.
Once he finished the 6 weeks of injections he gained more strength. He was holding his head up higher, rolling from left to right, smiling all the time, cooing more and we knew we needed to build on his skills. We started with Early Intervention when he was 3 months old and then introduced to DMI Physical Therapy, Occupational Therapy, a feeding SLP and PROMPT Speech Therapy, which he attends weekly, still to this day. Jameson is reaching his inch-stones with our amazing specialists, therapists, the help of his siblings and even our dog Watson who he loves to roll to. He is rolling, pivoting on his belly, working toward sitting independently and army crawling. He plays peek-a-boo, gives high 5s (when you are patient to wait for him), he makes sounds- (AAA, MMMMM and BuhBuhBuh), he loves people and animals and he is the hardest worker I have ever seen. The simplest task is like climbing a mountain for this boy but he does it every single day with a smile on his face.
Being the youngest of 4 has been the biggest blessing for Jam. He feeds on their attention and is constantly learning from them. The spontaneous and unknown hospital stays are by far the most traumatic part of all of this for our crew. By the time Jameson was 1 year old he had been hospitalized 7 times. Nothing can prepare a family for that, especially kids. They have been extremely resilient through all of these changes and love their brother something fierce.
We are thrilled to know that medical advancements are changing minute to minute and there is more and more hope everyday. The ENGIN team at CHoP has been a saving grace for our family. Jameson became a patient when he was just 7 months old. When we met with them all of the “I don’t knows” turned into “we are working to find out.” It turned into Hope.
This is where the Move to Cure event comes in. We need donations to fund these life changing discoveries and bring them to life for our kids and future individuals who are diagnosed with STXBP1.
Jameson is a complete Joy. He is silly and sweet, and can turn anyone’s day around just by being in the same room. These individuals living with STXBP1 are amazing and I can’t wait to unlock their potential as we learn more about their brains through scientific discoveries. We hope for independence for Jameson one day. We hope for an understanding community where he can live his best life. And we especially hope for development in science to understand this genetic mutation enough to help all current and future STXer’s. Jameson has a long way to go and a lot of hard work to put in but I know with the medical advancements we are witnessing, the support of our tribe and the power of this community, we will live to see a cure in our lifetime. I have HOPE.
Thank you so much for your support of the STXBP1 Foundation, Jameson and his friends. We are thrilled to have you join JamSquad. Your donation and participation means the world to us! Donations directly fund critical research for treatments, therapies, and a cure for STXBP1 disorders. TOGETHER WE CAN SHINE A LIGHT IN STXBP1 DISORDERS.
Join JamSquad and Make a Donation:
https://runsignup.com/Race/169048/Donate/bREbCNy8GW76fvS9
Buy custom JamSquad team shirts here:
https://www.bonfire.com/jamsquad-move-to-cure-stxbp1-2024-1/
