Harper - The FOXG1 Warrior

1 year old Harper received her diagnosis in October of 2019 and needless to say it isn’t good - FOXG1 Syndrome; an incredibly rare gene mutation that happened at conception. 1 in 10,000 chance of happening, and poor Harper is that 1. After delays in cognitive, speech and mobility milestones (showing signs at 3 months), the mission and journey to obtain the correct diagnosis has been a tedious one. Her diagnosis is called FOXG1 Syndrome. It is a critical gene for brain development and there are fewer than 500 cases worldwide. It is associated with the autism spectrum disorder but she’s not “autistic” it is just how they classify syndromes. She appears to have a milder case since she hasn’t had seizures yet (still young), swallowing problems, or feeding tubes - But her parents and caretakers have to be vigilant to watch out for seizures since they can happen at any point - there have been children with the syndrome that passed away in their sleep due to a seizure. She likely will have mild to severe cognitive impairment-only time will tell. Motor wise some kids never walk or talk. Others do. We will keep praying she has the best outcome possible. She had eye surgery this year at UCSF to uncross her eyes, and may need to have another in the future if they cross again. Heath insurance only covers so much therapy and equipment. It doesn’t not help with parents taking time off work to attend therapy or appointments, not to mention future visits to the hospital. Harper needs state and private therapies - PT, OT and Speech Therapy. She will need special equipment to help learn to stand, walk, play in a pool, etc. If walking could timers to delay, they may need vehicles and ramps that can accommodate their angel. FOXG1 Syndrome is a lifelong battle and currently has no cure. Harper and her parents, Kellie & Jason, reside in Santa Rosa, CA. This is their only child. This news has been absolutely devastating to them. Harper is their whole world and they will do whatever it takes to help give her opportunity, comfort and happiness. They are two of the most loving, caring and generous people - and it’s awful that such good people have to deal with something so painful. Please keep the Heublein’s in your thoughts and prayers and continue to support the family in all aspects, for this lifelong journey. We look forward to celebrating Harper’s successes and being there every step of the way. No parent shoulda have to sacrifice care and therapy because of cost, and we know this will be a long journey. To learn more about FOXG1, please visit: https://www.foxg1research.org/ Thank you!