I’ve known Ali since we were in kindergarten. We’ve been through everything together — school recess, liking boys, puberty, high school drama, moving to different states, both of us getting married, and starting families.
Ali is one of those friends that even though she has 4 kids and a million things going on, if I told her I really needed her I know she’d hop on a flight today and come to my side.
Needless to say, she’s one of the most important people in my life.
Her littlest just turned one and he has a very rare disease, STXBP1. I had never heard of it before him and now that name will forever be engrained into my brain.
Watching her go through what she's been through over the last year has been heartbreaking, but has proven to me just how strong and resilient she is.
This year, for Giving Tuesday, we'll be donating 10% of our proceeds from November 28th to the STXBP1 Foundation to help fund the very important initiatives they're working towards. I will also be matching the donation of our proceeds up to $1000.
I could talk on and on about Ali and what her and her kids mean to me, but instead I'm going to let her tell you the full story of the sweetest little boy, Jameson.
At the end of October 2022, a little miracle came into our world. Jameson was the missing piece to our family that we never knew we were missing. I know it may be cliché, but there really isn’t any other way to describe this little boy.
One morning when he was just 3 weeks old, I was nursing him and noticed that Jameson was twitching his leg in a different way. I took mental note, but it seemed to stop. Following that initial movement, it happened maybe 2-3 more times that day. I would go to get my phone to film it and he would stop.
Something just didn't feel right.
Initially, it'd only last 5-10 seconds maybe, I could never get a video and describing it, still to this day, words just don’t seem to convey what was happening to my baby.
I felt crazy.
It was nothing, but at the same time it was SOMETHING.
Over the next few days I was seeing him do this several times a day. By this point his whole right side was twitching, always followed by his eyes shifting to the left. We thought maybe it was a bad case or reflux. We added gripe water, and kept him upright, changed the way I was feeding him, made sure that he wasn’t getting too much. After a few days, calling the nurses' line, and talking with friends and family members, we made an appointment to see if this was a severe case of reflux. Our (amazing) NP said give it a few more days and come back for his 1-month check up and we will decide then if we will add a reflux medication.
This was the day that changed everything.
It was the day before Jameson’s first Thanksgiving. Family was just arriving to celebrate with us and meet our little guy, the turkey was thawing, and the kids were excited for the upcoming festivities. After the appointment, I strapped Jam into his car seat and we grabbed gas at Costco. When we got home he was asleep so I left him in his seat for a few minutes while I got a few things done with two hands. He was in his seat for about 45 minutes in total and when I went to pick him up his whole body started tensing -- mostly his right side. It lasted over a minute and I finally was able to get a decent video. I had proof! I immediately uploaded the video to our pediatrician portal and within the hour I had a phone call – I can still hear the nurse saying the words,
“It looks like a seizure, take him to Children’s immediately.”
My heart sank.
Everything stopped.
Luckily my dad and stepmom, Martha, had just arrived and they stayed with the kids while John and I raced to Fairfax Children’s. When we got there he had another seizure. We called to let them know, but by the time they were in the room it was over. It happened again, but this time our (incredible) nurse Scott (I will never forget him) saw it and sprang into action. John videoed everything and those videos were our ticket into the hospital.
Jameson had had 4 seizures within 3 hours.
Watching my tiny baby go through all of this was something of nightmares.
We had no idea what was happening, and the fear of losing our son felt like a real possibility.
They admitted him to the hospital and put him on phenobarbital to stop the seizures, until we could figure out what was going on. Trust me when I say you NEVER want to watch someone put an IV line into an infant. He was put through so many tests and they all kept coming back normal (no infection, no abnormal scans or signs of tumors) and the pheno was working to stop his seizures. We were discharged with medications and the last thing they recommended was genetic testing to see if he had an underlying condition.
STXBP1
An epileptic encephalopathy, abnormal brain function that comes with seizures, developmental and physical delays, hypotonia… the list of scary possibilities is pretty lengthy.
This rare disease was just discovered in 2004, so we are still learning a lot especially about the babies who have been diagnosed early and have been lucky enough to have early intervention. STXBP1 has a HUGE spectrum of outcomes and we have learned to live in the NOW with our guy.
From October –February we were in and out of the hospital. We traveled to Children’s Hospital of Philadelphia to meet with a doctor who is specializing in this genetic condition, Dr. Helbig. We are seeing specialists in NOVA and DC, and exhausting all resources we can to help him develop the best that we can. We are learning and growing every day and watching our sweet guy thrive with the abilities he has.
Jam has overcome so much in his short little life. After treating his infantile spasms (very scary -- do not recommend) back in February/March, we know he is still having focal seizures on the left side of his brain, but he is thriving!
He is rolling over, gaining trunk control, laughing out loud, mimicking tones and sounds, plays peek-a-boo and has the most beautiful smile you could ever see. He is starting to put more pressure on his legs and we hope that he will sit up independently one day. He is a little miracle and works incredibly hard. I am so proud of my guy!
Jameson's condition is permanent, it is a beautiful (and scary) part of him.
There is hope that through research and new trials that the seizures could be prevented and the gene can be healed. One of the scary components of STXBP1 is being refractory to different medications.
This piece to the puzzle makes it feel like we are playing a horrible game of Russian roulette.
What is working today may not work tomorrow. Jameson was seizure free for 6 months, but they came back. We adjusted medicines and he's back to gaining skills. Skills that can also just disappear out of nowhere. There are a lot of "what-ifs" and potential outcomes. As of now, Jameson's future is unknown, but as time goes on we will learn more and through generous donations we can better understand this genetic disease.
Thank you for getting to know our special one of a kind dude and becoming a part of JamSquad, Science+Love=Cure!
If you've read her story then I'm sure you understand now why this is so close to my heart. Let's raise some money for this very important cause!
Click here to learn more about STXBP1 or to donate to the STXBP1 Foundation.
xo,
Sarah
