Life with FOXG1: "I was desperate"

The kids with FOXG1 only number in the hundreds worldwide, but the parents of those kids are tenacious. Listener Vivek put Phil Sansom in touch with Nicole Johnson. Along with Nasha Fitter, Nicole started her own research foundation after she wrote a blog about her experience as a parent...

Nicole - Nasha read it, and she called me and she said, "my daughter was just diagnosed with FOXG1 Syndrome. I'm also looking into seeing what research is out there. We could put a strategy together. Do you want to do this with me?" We put together a worldwide group of FOXG1 parents and we officially became the FOXG1 Research Foundation.

Phil - They fund a number of studies - which I’ll come to in a moment - all in the hopes of finding a treatment for kids like Nicole’s daughter Josie.

Nicole - Josie was born in 2011 and as far as we knew there was nothing wrong. And it wasn't really until four months that I noticed she wasn't tracking with her eyes the way my son did. And then by six months, Josie failed her six month paediatric milestone test. She just wasn't doing anything that a six month old should. It took us two years to find a diagnosis. We did every test under the sun. Full genetic testing... but they only looked for what they knew to look for, and FOXG1 just was not on the map. I went down the road of more holistic testing. I even took my family to New Mexico, and Josie, for a week, every day got needles in her head. And it didn't do anything. So I was desperate.

Nicole - So I'm reading the paper one day and the headline says "Boy in Texas Discovers Rare Disease with New Test". So this is when the testing called whole exome sequencing started. They basically look at every gene in the genome. So I found the geneticist in New York who was doing this and we were tested - myself, my husband, and Josie - and I remember it clearly, I remember the office walls closing in on me. We were told that Josie has something called FOXG1 Syndrome. But they also called it congenital Rett Syndrome, because that's what it was called before the NIH - the National Institute of Health in the US - gave it its own proper diagnosis name. I was told by that geneticist at the time that Josie will never talk; she will never walk; she will probably never sit up. When I asked the most dreaded question of "what is the lifespan", he looked at me and said, "teens at best". But there were so few children at the time diagnosed with FOXG1 syndrome - in fact Josie was the 60th person in the world - so the prognosis he gave me I have since learned does not have to be the case. And I also did decide at that moment: how could he know this? At the time, there were no clinical trials, there was no research underway. And about a week after we got Josie's diagnosis, that's when the seizures started. They started like a tidal wave. We couldn't sleep at night because we feared she could have a seizure in her sleep. For about six months, my husband and I alternated staying up all night watching her.

Phil - Josie’s still around. She lives her life as best she can.

Nicole - She is fed and gets her medicine with a G-tube. She gets a bevy of medicine at five in the morning, at six thirty in the morning. And then if she's well enough to go to school, she gets up and we get her dressed and get her ready and get her in her wheelchair, and her bus comes, and she's got a nurse who goes on the bus with her, and she will spend a full day at her special needs school. And she'll be asleep usually by six o'clock - she's exhausted - and then the medicines throughout the night.

Phil - What's it like to be the parent of a kid with FOXG1?

Nicole - It's so amazing to me that Josie cannot purposely wipe her nose if it itches. She can't eat pizza. She can't yell at me over the clothes that she wants to wear, which was such a joy of growing up that I had with my mom. And yet she smiles and laughs all day long. I don't want to underplay how hard it is; you know, being a FOXG1 parents is very hard. There are only now 650 children in the world known with FOXG1 Syndrome. So don't forget, Josie was number 60 in 2014; we're in 2020 and there are 650. We have helped put FOXG1 Syndrome on the map. We had it added to the epilepsy panel. So now when someone goes for genetic testing like I did with Josie, they will automatically be tested for FOXG1. We also got it added to the microcephaly panel, which is having a small head.

Phil - FOXG1 Syndrome has likely been around for the beginning of time - but nowadays, doctors know to look for it. Which means that, as with conditions like autism before, the official numbers are shooting up. What you miss if you just look at the numbers is that for people like Nicole - that is good news.