Meet Nicole Zeitzer Johnson who is making real strides toward helping scientists find a cure for FOXG1 syndrome (the rare genetic condition that both her daughter Josie and the MTeam’s Chief Motivating Officer Meredith were both born with) through her work as a co-founder, President and Chief Communications Officer of the FOXG1 Research Foundation. Below, she talks about her work with the Foundation, shares some insight into her life with Josie and gives her best advice for parents receiving a similar diagnosis for their own child.
MTEAM: Tell us a bit about yourself and your family.
NICOLE JOHNSON: I’m Nicole Zeitzer Johnson. I live in Long Island, New York, outside Manhattan, with my husband, Rich and our son Tanner (12) and daughter Josie (7). We’re a big music family; my husband is in the music business, as was I until this past year when I co-founded the FOXG1 Research Foundation.
MTEAM: You’re a Co-founder and President of the FOXG1 Research Foundation. Who are the other co-founders and what led you to start the FOXG1 Research Foundation?
NJ: The following story is an excerpt from the FOXG1 Research Foundation website:
Nasha Fitter in California, Nicole Johnson in New York, and Christine Revkin in Switzerland, each experienced the same life-changing, heartbreaking event that inevitably brought them together.
Their children, Amara, Josie, and Nathanaël, were not meeting simple milestones. What was happening? They endured MRIs, EEGs, and test after test after test, months and years spent trying to find a diagnosis. Finally, they each learned their child was born with a rare, severe genetic condition called Foxg1 syndrome.
They were all told their children would be intellectually disabled, they would probably never walk, talk, sit up unassisted, eat without a feeding tube, and were likely to suffer from seizures and undergo many operations.
These three moms refused to accept the prognosis without doing something about it. The questions came pouring in: what is being done about this? Are there scientists researching this gene? Are there trials in the works? What is known?
The answer was - not much. There was very little known about Foxg1 syndrome and in the age of exponential advances in genetic research, they all knew that someone had to take action.
MTEAM: For those who have never heard of FOXG1, can you help us understand a bit about what it is and how it manifests itself? How has this condition touched your own life and perhaps even changed the course of it?
NJ: Foxg1 syndrome is a very rare neurological genetic condition caused by a mutation of the Foxg1 gene. It’s mostly non-inherited, meaning my husband and I are not carriers; it’s a spontaneous mutation of the gene. It’s congenital, meaning Josie was born with FOXG1 syndrome. There is a spectrum of mutation types and some kids are less severe than others, but for Josie (and many) it is severe.
Josie is seven years old and she cannot walk, talk, crawl, or even sit up without falling. She is fed with a feeding tube and she suffers from epilepsy.
When we got Josie’s diagnosis, which took two years of endless tests to get, Josie was the 60th known person in the world with FOXG1 syndrome. Today there are 500 known; the diagnosis rate is growing at 100% year. But when I learned of this condition I felt helpless. There was so little known about it. There was very little research done. I thought, who is going to care about a condition with so few patients? But I’ve learned something incredible. I’ve learned that there are many scientists who are eager to study Foxg1 because it happens to be a very interesting and important gene. Foxg1 was originally called Brain Factor 1 because it is one of the first and most critical genes in brain development. It’s a transcription factor that creates a protein that turns on other genes. It is responsible for telling the brain what to do. Scientists are finding links from Foxg1 to many brain disorders that affect millions of people, such as autism, Alzheimer’s, schizophrenia, and brain cancers.
This made me realize that if we can do the work to find a cure for FOXG1 syndrome, we have the potential to help solve much more. Imagine that’s why we’re here?
When my co-founders and I got together to drive research forward to find a cure for every child in the world with Foxg1 syndrome, I felt this unexplainable inspiration that our work is meaningful beyond measure. I use the term “beyond measure” quite often.
Every scientist funded, every collaboration of researchers, every minute spent in the lab can change the blueprint of human life. That's another sentence I'm hot on - change/improve the blueprint of human life.
I sit at my desk with my long-ass to-do list. Newsletter- sent! Cross it off the list. I carry my 50 pound seven-year-old totally disabled daughter around, I wipe the drool from her mouth, clean her mic-key button on her belly so it doesn't get infected, I administer a bevy of anti-seizure medications through her g-tube, and I plug away with an incredible team of FOXG1 parents to drive the research forward to change the face of this awful rare genetic disorder - not just for Josie, but for every child in the world, today and in the future, with FOXG1 syndrome.
MTEAM: The FOXG1 Research Foundation had some remarkable achievements in 2018. Share a few highlights and tell us what you’re focusing on for 2019.
NJ: If you look at the bullet points in the last newsletter we sent, it highlights our greatest accomplishments of 2018. One I want to point out is our Scientists Symposium we held in San Diego in November. This was a pinch-myself 3-day event where we brought together scientists from every corner of the globe who are studying Foxg1 or are interested in studying Foxg1 for a deep-dive symposium to collaborate. We held it alongside the Society for Neuroscience Conference so that it made sense for all the neuroscientists to be there. One scientist said to me “I’ve never seen a foundation accomplish nearly what you have in one year; what you have done takes most many years to accomplish.”
We learned so much for our research strategy by bringing all these brilliant minds together to discuss what we know so far about Foxg1 and what we need to know. (READ MORE ABOUT THE SYMPOSIUM HERE.)
For 2019, we just launched the Foxg1 Patient Registry! This is a big deal because it is so critical to have for a Pharmaceutical company to even consider investing in us (or any disorder) for clinical trials. (READ MORE ABOUT THE REGISTRY HERE.)
Our big goal for 2019 is to fund a host of research proposals that our Scientific Advisory Board has vetted and recommended we fund along our path to a cure. We need to raise an estimated $2M in 2019 to be on track along our Path to a Cure. (READ MORE ABOUT THE PROPOSALS HERE.)
MTEAM: What is a typical day at the FOXG1 Research Foundation like for you?
NJ: Well, I wake up and start wrapping my brain around everything we have to do, all the money we have to raise, the help we have to find, and more. Then, thanks to our CFO (also a FOXG1 mom), Angie, who has really helped me get organized, I look at our detailed to-do list.
Every day is different as far as the jobs I am working on. I mostly cover all communication aspects of the Foundation so I might be working on a strategy document, or a presentation, or a newsletter. I have an ambitions communications strategy that I’m trying to really get on a roll to achieve. Our newest board member and Secretary, Judith, has joined me on the communications front, which is also a great help.
But there’s so much more. I work with my partner, Nasha, on aspects of our research strategy. I’m always networking and meeting with or on calls with people whom I can learn from or perhaps that I can help. I have been invited to speak at different events in the neuroscience and biotechnology space, so that is an aspect of my role as the public-facing co-founder, President and Chief Communications Officer of our foundation.
MTEAM: Tell us a bit more about Josie and her personality! (How old is she? What does she love most? What makes her happy? What makes her uniquely Josie??)
NJ: Josie is the greatest gift and just ridiculously cute. Can you imagine not being able to speak, or sit up, or take care of your basic needs, I mean not even able to push yourself up in your bed, yet you smile and laugh all the time?
I always say: if happiness is the goal in life (and isn’t it?), then Josie is winning!
Take a look at this video at the end of this response. She laughs from her belly and everyone around her can’t help but laugh along. I could hug Josie all day; well, on the weekends that’s basically all I do. She’s delicious.
Sometimes when it’s really early and it’s just us in her room, me holding her in the rocking chair, I start crying. It’s when I let it out. And when I cry she looks at me with the same face every time like she knows how much I wish for her, and she knows I would do anything to give her the abilities she deserves, but every time, without fail, while I sit there holding her with tears on my cheeks, she starts laughing at me. Every time!
Not to sound too spiritual, but deep down Josie and me both know she is going to change the world. She gives everyone an incredible sense of perspective. I want everyone to recognize that she is smiling and happy despite her head-to-toe disabilities.
MTEAM: What have been some of your biggest challenges and the best rewards along your journey with FOXG1 so far?
NJ: When the seizures started and they were severe, grand mal, and it took more than a year to get them under control, well, that was one of the most difficult times of my life. I was living outside my body. I couldn’t sleep. In fact, for six months my husband and I took turns staying up all night watching Josie. Now we have night nurse care, thank gosh! Multiple ambulance rides, multiple stays in the hospital, and just overall fear and helplessness. Yeah, that was the worst. She is doing much better now on her anti-seizure medicinal cocktail of three heavy-duty medications, topped off with CBD oil, which is the medicine that made the biggest difference.
My biggest challenge now is how heavy she’s getting. I really need to get us into a handicap accessible home.
MTEAM: What advice would you offer to other parents who are just finding out about a similar diagnosis? How can they advocate for their own children? What resources do they have available to them either through the FOXG1 Research Foundation or elsewhere?
NJ: The first thing I want to tell them is to feel everything they feel and do not feel ashamed of it. It’s a process for many. I hope to share my optimistic outlook that while this isn’t easy, there is something very special about it. I try to stay in the mindset that our lives are just different. My family really doesn’t have a woe-is-me attitude. We are not owed anything and we were not cheated out of anything. We are grateful every day for Josie and that she is doing much better today than she was a few years ago when I was way too used to sleeping next to her in the hospital.
I beg for every single Foxg1 parent to go to our website and fill out the Patient Registry! This is so important. It can be found under parents and caregivers on foxg1research.org
There is also a place under that tab inviting parents to join our Stem Cell Biobank and have their child’s blood sample turned into an IPSC line for research.
Please follow us on social media under FOXGResearch
There is also a wonderful closed Facebook group called FOXG1 syndrome Parents Support Group.
I did an interview answering the question: “How can a parent can advocate for their child?“ No matter what the diagnosis is, even if it’s a broken arm, I offered some advice for parents to think of themselves as medical manager. Here’s that interview:
MTEAM: What are some of the key changes that would make the world a more inclusive place for children born with FOXG1?
NJ: Top of mind, I wish Huggies or Pampers would size up! They make the best diapers, but they do not consider disabled older children.
I’m noticing some great new clothing being made for children with disabilities. Like Billy footwear! And the Target Cat and Jack line for disabilities.
I’d love to see more of this.
I really want to wrap my brain around an idea to help parents. Our community was rocked with devastating news that one our Foxg1 moms that we all feel so connected with through our parents group lost her battle with depression. She left this world on her own, leaving three kids and a medically fragile Foxg1 boy behind. I don’t think she wanted to. I know she loved her family so much. It is almost impossible to understand the weight that depression and mental health has on anyone, and add the stress of caring for a medically fragile, disabled, nonverbal, immobile child. It’s a perfect storm.
I know that the work we are doing is not only for the kids, but for the parents to have life easier. I just want every parent to be able to walk down the street holding their child’s hands and talking about anything. That is why we’re here.
MTEAM: If there was one thing you’d most like the world to know or understand about Josie or about FOXG1 generally, what would it be?
NJ: Josie smiles so much because she is a pure loving soul who only sees the good in the world.
We are here to make a tremendous difference for so many. We need help. We need a lot of help to reach our goals. I am not good at asking for help, and now I can’t stress enough how much help we need to raise the money to fund the scientists to find a cure for Foxg1 syndrome and potentially so many other brain disorders affecting millions of people.