From Facebook to Vital Network
In issue 11 of Front Line Genomics Magazine, Heather Norwood, executive director of the International FOXG1 Foundation introduces us to the important work that they’re doing, and the the human story behind their information.
Six years ago, Ileana Giordani gave birth to a set of twins, Giovanni (Gio) and Isabella (Bella). When the twins were three months old, she began to notice Isabella wasn’t hitting the same milestones as Giovanni; she couldn’t hold her head up like Gio, and while Gio would stare at her, Bella would just gaze right through her as though she wasn’t there. It was like she was blind – and in a way she was. When Bella was four months old, she started physical therapy for poor head control, and her therapist noticed what Giordani had for months – that Bella was different. The therapist recommended that Bella’s paediatrician refer her to a Neurologist, and from there, their journey began. At one of Bella’s many appointments, Giordani was sitting in the genetic counsellor’s office for the results of some lab work. The doctor explained that her blood work had comeback positive for a mutation of the FOXG1 gene. A FOXG1 mutation, which is found on gene 14q12, is a severe neurological condition characterized by: seizures; major sleep disturbances; small head size; cortical visual impairment; the inability to control body movements; mild to significant developmental delay; lack of speech; partial or complete agenesis of the corpus callosum; and inconsolable crying during the first year of life. He went on to say Bella would not walk, talk, sit, or stand, and will always be mentally disabled. “It was a shock of a lifetime,” stated Giordani, “I was filled with fear of the unknown, anger, and felt that I had somehow failed my child as a parent.”
The next few months were filled with repeated attempts to adjust to this new life, while grieving for the life that the family thought they were going to have. The search for information began, but everywhere they went – nothing. The family even went to Italy for answers, but still nothing. After repeated internet searches, Giordani said she, “Stumbled upon a support group on Facebook. To know that we were no longer alone felt amazing. To be with other parents that are going through and dealing with the same things we are – what a relief!” As the months progressed and all the families continued to have the same issues, Giordani felt something had to be done; she approached the five original families and asked if they would be interested in joining her to form a foundation, and the International FOXG1 Foundation (IFF) was born. According to Giordani, she, “…Started this foundation so that no one would ever have to feel as alone as I did, so that families would have a safe place to turn to for accurate information and hope for their family member’s future.”
Over the past four years, IFF and its Board have successfully applied and been approved for 501(c)(3) non-profit tax exempt status. Their family support group has grown from a handful of families to approximately 230 worldwide. Three neurogeneticists, Dr. Jeffrey Neul, M.D. Ph.D., Dr. Alessandra Renieri, M.D. Ph.D., and Dr. Alex Paciorkowski M.D., joined together with IFF to study the mutation in hopes of developing treatments and possible a cure. Currently, the first ever Natural History Study on FOXG1 is being done out of the University of Rochester Medical School in New York state, initiated in conjunction with the Foundation. Additionally, in the next few months Dr. Neul will be able to begin the next research project, the study of mice with a full FOXG1 deletion. There will be markers placed on the FOXG1 gene, so the neurogeneticists can see what other genes it affects. FOXG1 is one of the first genes ‘turned on’ in utero that governs brain development. The goal is to see what other genes it affects that cascade down from it, and what may happen if the gene is reactivated.
Also, in October of 2014, the National Institutes of Health awarded a $29 million five-year grant to study FOXG1 Syndrome, MECP2 Duplication Syndrome, CDKL5 Syndrome, and Rett Syndrome. The goals of this grant are to understand the core clinical features of each disorder, identify if there are any treatments that can improve quality of life, and to understand the link between symptoms and neuroimaging variations.
Since research is only the first half of their goal, IFF recently introduced the Beatrice Fortier Memorial Family Fund, developed to provide funding for medical needs not otherwise covered by insurance, and named in honour of Beatrice Fortier, who succumbed to the effects of FOXG1 in 2015 at just 2 ½ years old. Since Beatrice’s passing, the group has lost a total of eight individuals, ranging from babies to 25 years old. This year they were also awarded a $5,000 grant from Global Genes to start an equipment lending library within their FOXG1 families. The Foundation is very excited to be able to fill these gaps and others for their foxes.
Long term, IFF is hoping to fund a FOXG1 Conference where medical staff can provide clinics, host seminars, and provide a place for our families to meet. They are investigating the most effective methods to disseminate information to the general public and the medical community to inform them of not only the Foundation, but also to educate physicians on the signs and symptoms of FOXG1 for earlier diagnosis.
Giordani recently turned to her support group yet again, posting a message as Bella’s seizures changed in frequency and severity. “After other parents replied with their experiences, I went to see Bella’s neurologist. She has been diagnosed as having intractable seizures, complicated by status epilepticus and yet again, Bella, like so many other people with a FOXG1 mutation, is walking the path less taken,” said Giordani.
Together they are strong, looking forward to the future, finding new families to support, and someday, a cure. Giordani and and her Board are committed to following this path, wherever it may lead, and making their dreams reality. For more information, visit www.foxg1.com, or email firstname.lastname@example.org. The Parent Support Group can be found here, and the Friends and Family Group here.