On February 15, 2004 my husband, Greg, and I welcomed our beautiful baby boy, Jacob into the world. He was five weeks early and spent two weeks in the NICU. We knew when we brought him home there would be some delays due to him being early; however they never really resolved. At six months old Jacob’s Pediatrician ordered an MRI. We then discovered that he was missing brain tissue, and would have mental and physical disabilities for the rest of his life. He cannot talk, walk, feed himself, is legally blind, has seizures and a small brain, asthma, severe reflux, and global developmental delay. He functions at about an 8-12 month level and is almost 14 years old. However, Jacob is the happiest kid in the world~ his giggle is pure, unadulterated joy.
Needless to say, it was a bit of a shock. We began to see Neurologists, Ophthalmologists, Gastroenterologists, Orthopedists, and also had Speech, Vision, Physical and Occupational Therapists coming into our house several times a week. While we were trying to get our feet back under us and learning how to deal with all this, at 18 months old Jacob began to have seizures- his first one was 3 hours long. It was quite probably the most terrifying moment of our lives. We were so helpless- we didn’t know if Jacob was going to make it- and if he did, would he be different? The ER docs were amazing and stopped the seizure, finally. Thus began the first of Jacob’s many hospital stays, and yet another road-less-traveled for us. After about a year of trial and error on different meds, we finally found a med cocktail that controlled the seizures for the most part.
Things were hectic for awhile, but stable. Jacob started pre-school in 2007 and finally began sleeping through the night (woohoo!!). We then had our baby girl, Anna in 2008 who is an amazing gift-although she does make us want to pull our hair out at times!
In 2009, when we finally made the decision to have a feeding tube placed because of oral motor issues and medication side effects causing decreased appetite, leading to a diagnosis of failure to thrive. It made a huge difference in Jacob’s and our lives, all for the better. In 2010, we were truly blessed to have Jacob approved for a Make-a-Wish trip based on his life-threatening seizures. The four of us plus an aide went to Disney- it was the most magical experience of our lives! The year continued to bring many more surprises, including something we never thought we’d get- a diagnosis. Jacob had some genetic labwork over the summer, and I had called to see if we could cancel the appointment, figuring it had all come back negative again, when we heard four words that would forever change our lives, “Actually, we have results”. We spent the next week wondering what it could possibly be, and when we saw the geneticist, we heard FOXG1 Syndrome for the first time. We poured the internet for more information no avail- we had a name, but the genetic mutation was only just discovered and no signs, symptoms and treatments were available. I formed a Support Group on another web site, and eventually, a few more moms joined. One of those moms, Stefanie (founding Board Member) started a group on Facebook, and the rest, as they say, is history! In the first year, we found 34 other children diagnosed with FOXG1 in the world, but there was still very little information available.
We decided to do something about that. In 2012, Ileana Giordani approached me about starting a foundation. We then approached Laura Lewis, Tamra Evans, Melanie Heinrich and Stefanie Helms, all parents of FOXG1 kids and formed the International FOXG1 Foundation. We don’t want other families to feel as alone as we did. Our Mission is to provide support to families with an individual diagnosed with FOXG1; to educate the medical community and public about this disorder; and to provide funding to the three Neurogeneticists who have formed a team and study FOXG1 in the hopes of someday discovering treatments and possibly a cure.
Throughout this whole process, Jacob continued to struggle with seizures. We never knew when they would come, how severe they would be, and whether or not the emergency meds would work. More often than not we had to call 911 as the meds became less and less effective. We eventually learned to live with the “always waiting for the other shoe to drop” sensation, and tried to live our lives as typically as possible. Finally, in August of 2012 we decided, along with Jacob’s Neurologist, to have a Vagal Nerve Stimulator implanted for seizure control. It’s basically like a pacemaker for the brain, and every five minutes it turns on, sending a 30 second pulse to the brain in an attempt to break up any potential seizure activity. As a result, Jacob’s seizures reduced in frequency and severity. For the first time in almost eight years, the Neurologist was able to wean Jacob off of one of his three seizure meds, and between that and the implant, his cognitive functions improved, and Jacob began to talk. He now has about 10-13 word approximations, including Mom, Dad, Anna, I love you, I am, I don’t know , Hi, Hi there, Yes, No, Night Night, and Moooooooooom when I do something he doesn’t like. It’s music to our ears!
Jacob has had ups and downs since 2012. His seizures have remained controlled, which, believe it or not, consists of 2-8 seizures a day that are under 30 seconds a piece. We spent about six months in 2016, June through December, preparing for and recovering from an almost total spinal fusion (T2 through L5) due to severe scoliosis that was impinging on his lung function. “It isn’t totally corrected, but enough so that he has most of his lung function back and isn’t in pain anymore.
Jacob has continued to inspire not only us but also our community to greater heights. Our community came together and raised a total of $58,000 for a wheelchair accessible Sway Fun Glider for our local park, and a wheelchair van for our family! Recently nine students in his grade filled out applications to learn how to use his communication book and talk with Jacob, saying:
“I also would love to work with Jacob.”
“…I can learn a new way to speak with another student.’
“I just thought that not only would it be a good opportunity to really meet Jacob, but also it is a good opportunity for Jacob to communicate with students…”
“…Jacob is just amazing and I want to help him out as much as possible.”
“I was inspired because I’ve been in the same class as Jacob since second grade. We see each other in the halls and when I say hi he always laughs.”
“I think it would be very fun.”
“I want him to be able to do stuff like everybody else.”
“I think it would be a fun, new experience, and I really wanna help Jacob learn his way to communicate.”
“I want to talk to Jacob.”
These are the responses from the next generation- pretty incredible, right? We are so lucky to live in this community
Greg and I are truly blessed to have Jacob and Anna. They have taught us how to life in the moment, to appreciate the small things and to truly see what is important in life. We are one of the many faces of FOXG1, and we can’t wait to see what our future holds!