“Our daughter has FoxG1 syndrome”: a mother’s testimony

A mother gives us her testimony. Juliette, her granddaughter, suffers from a very rare genetic disease, FoxG1 syndrome. Diagnosis, care, daily life, hopes for treatment… she explains to us.

“During the very first months, Juliette was developing normally but suffered from severe reflux; nothing exceptional at this stage! It was around 4 months old that I started to worry… something was wrong with his eyes. In addition, the doctor observed a slowdown in the growth of his cranial perimeter, a sign suggestive of a cerebral malformation. In parallel with a delay in acquisitions that was starting to set in, everything happened: appointment with the neurologist, first MRI which revealed a well-formed brain, with the exception of agenesis of the corpus callosum cannot be the source of Juliet’s psychomotor retardation on its own. The neurologist very quickly told us about a probable genetic syndrome, and we started the research process.

FoxG1 syndrome, a very rare genetic disorder

As often, the path to the diagnosis was marked by several stages which helped us to accept that things did not go as planned … There was a difficult moment, especially linked to the brutality of the words of a doctor, at the very beginning of the course, which announced to me point blank, when Juliette was only 10 months old, whom he suspected a serious malformation of the cerebellum, which would cause a very severe handicap and which would have to be accepted. It was wrong. The diagnosis was made last May: Juliette has syndrome FOXG1, an extremely rare genetic disease that causes multiple disabilities.

My partner has, like me, and because we are parents of two other children, quite quickly found that something was wrong. We have never been in denial, without knowing how much our little girl would be affected. On the other hand, and because we did not know for a long time what we were going to find out, we made the choice not to immediately speak about the results of Juliette’s medical examinations to her brothers. We gradually mentioned his difficulties, his late acquisitions, while remaining in the observation, without dramatizing… Today, they are aware of the diagnosis and aware of the difficulties of Juliette, but the children have this extraordinary power to accept things as they are, without making anxiety-inducing projections . They therefore live from day to day with their sister for whom they have developed an infinite tenderness. 

The diagnosis of this FOXG1 disease has only existed since 2009. As for the French association FoxG1-France, it was created in 2017. It is the International Foundation which has done a lot for two years to make people talk about this syndrome, FOXG1, which concerns more than 740 cases worldwide (the diagnosis has been made recently and new cases are detected every week), and to advance research.

A personal change of course

For my part, I had long wanted a change in my professional life, a need to return to a meaningful job, and education jobs have always attracted me. The arrival of Juliette, then the discovery of her handicap, were a trigger: I decided to prepare for the school teacher competition, which allows me to combine a sense and taste for working with children while having the time to take care of my daughter and accompany her to her therapies. Today, I am delighted with this change and this new balance.

FoxG1 syndrome: hope for a cure

Thanks to the work of the Foundation and its recent collaboration with 2 biotechs, there is hope for a treatment. The good news is twofold because since this gene has a lifelong role, therapy could benefit everyone, regardless of age. However, I remain lucid about my daughter’s disability, and I do not believe in a miracle treatment that will solve everything … But if it allowed her to walk and / or speak, fundamental skills that we do not know if Juliette will be able to acquire, it would be a huge step towards its autonomy.

Apart from this hope of treatment, we work day by day with Juliette to make her gain as much capacity as possible. Since the brain is very malleable, it is important to stimulate it as much as possible. She taught us to see life differently and to understand that although this life is different, it can be beautiful. For the moment, the fight is that of fundraising: we need to raise 1,5 million dollars (globally) to ensure the 2021 research program! We have hopes: the first is that the treatment will be on the market within two to five years! “