Read more about Jansen on her Warrior Story.
In this video, Suzanne and Brent Jones share the story of their daughter Jansen, whose early developmental delays and medical challenges led to a SYNGAP1 diagnosis after years of searching for answers. They describe the difficulties Jansen faces, including global developmental delay, hypotonia, epilepsy, behavior issues, and significant speech and learning challenges, as well as the impact on their family and her siblings. Despite the long medical journey, they highlight Jansen’s resilience and the support of specialists, therapists, and loved ones. The Jones family also underscores the vital role of the Syngap Research Fund in connecting families, offering hope, and driving research toward treatments and a cure for SYNGAP1.
Below is a transcript from the video:
Suzanne Jones
[00:00:08] Jansen is a fun-loving, sweet little girl.
Brent Jones
[00:00:12] When I think about Jansen, I think about her smile and how she lights up when I come in the room.
Suzanne Jones
[00:00:33] Jansen seemed like a typical baby when she was first born, and she was our third. And so we just kind of dragged her around as our caboose. I would say when she was about four months of age, I realized that when I’d hold her, she would curl into a little ball and wouldn’t try and stretch out and stand on my lap.
Brent Jones
[00:00:48] Later on, some of the differences I noticed in her development was some of the simple tasks like counting to 10, doing ABCs, color recognition. She had a difficult time with. There are many struggles of raising a special needs child. I’d say one of the biggest struggles is there have been times that we felt isolated because of her behavior issues. We’ve had to keep to a certain schedule, so we’ve missed out on some things in life. Our boys have missed out on things.
Wyatt Jones
[00:01:17] It comes with a lot of challenges because there’s a lot of times where our parents really haven’t been able to like focus on us and have all been focused on her. But it’s also great because I’m able to see life in a different way than many people. She brings the family together.
Porter Jones
[00:01:34] When she acts out, she does that a lot. When she does that, we all have to come together and bring up ideas to make her stop acting out.
Suzanne Jones
[00:01:44] In addition to the speech, physical, and occupational therapy groups, we have seen a number of neurologists, geneticists, orthopedists, ophthalmologists, a sleep doctor, cardiologist, gastroenterologist, a number of endocrinologists, and that’s just to name a few.
Brent Jones
[00:02:03] Suzanne and Jansen traveled across the country to see different specialists.
Suzanne Jones
[00:02:08] Jansen’s been put under for three MRIs. An eye surgery, a spinal tap, and has had multi-day EEGs annually since she was five. She’s been poked and prodded more times than I can count. It’s been a really long road.
Brent Jones
[00:02:25] We had doctors that told us, you know, ‘forget it, stop searching.’ And that’s the last thing that we were going to do. This is the most important thing, and we were the only advocates for our daughter. We just kept on going.
Suzanne Jones
[00:02:40] When Jansen was about 10 and a half, it really seemed like she was declining. She’d stopped growing, we couldn’t resolve the epilepsy, and I went into a bit of a panic. So I reached out to our Emory geneticist, and she advised, ‘look, whole genome analysis is finally available to patients and their families.’ And she asked if we wanted to do it, and I said, ‘Sign us up.’
Brent Jones
[00:03:05] We were willing to do anything and everything to find an answer for our daughter, and we jumped on the opportunity.
Suzanne Jones
[00:03:23] We got a call from Jansen’s emory geneticist letting us know that the results had come through. She thought I would be pleased to learn that they had found a diagnosis of SYNGAP1.
Brent Jones
[00:03:35] When I googled it and read through the diagnosis, it checked every box, and I just had tears streaming down my eyes.
Suzanne Jones
[00:03:43] The SYNGAP1 disorder is a de novo or not inherited genetic disorder and it is caused by a mutation on one of a person’s two copies of the SYNGAP gene, which is found in chromosome six, and the Syngap gene produces Syngap protein. This protein is vitally important to our brain. It functions at the brain’s synapses, and its job is to regulate the neuron activity and because Jansen and other Syngap children are missing probably around 50% of their Syngap protein, the neurons fire wildly. Global developmental delay, hypotonia or low muscle tone, epilepsy for many of the children, intellectual disability, severe speech and language disorder, autism tendencies, and then other little things like behavior problems, feeding issues.
Brent Jones
[00:04:36] The one that got me was the behavior problem. It was when I read biting and spitting. It’s like we got our girl.
Suzanne Jones
[00:04:46] It’s huge for us to understand what’s going on and with that we have latched on to the Syngap Research Fund. The Syngap Research Fund is a nonprofit formed in 2018 in California by Mike Graglia and his wife Ashley Evans. All of the people involved in the Syngap Research Fund are family members of Syngap children and the Syngap Research Fund’s mission is to provide resources and support to families whose children suffer from Syngap1 and to also fund research into a cure. It was unbelievably helpful to know that there is somebody building a community of Syngap1 families and also questing for a cure, and all we had to do was join in, and we did gratefully. In working with the Syngap Research Fund, Brent and I have thoroughly embraced that there truly is a path to a cure. But it’s going to take a lot of initiative and science. Technology has never before been in such an innovative space and breakthroughs are happening all around us, but it’s going to take time and money. And we can’t do this alone. What’s been really inspiring for us is with hope that we have now comes initiative and so we are really driven. To raise the millions of dollars it’s going to take to try and help our daughter. But we can’t think of anything we’d rather do.