Monday, February 4, 2013

Foxg1 Gene Disorder on 14q12 gene (Congenital Variant Rett Syndrome)

FOXG1 is a severe neurological condition characterized by seizures, small head size, inability to control body movements, and lack of speech. The majority of our children cannot walk or talk. They cannot feed themselves and they struggle to communicate their most basic needs.


  • Inconsolable crying within the first year of life

  • Partial or complete agenesis of the corpus callosum

  • Developmental Delay

  • Teeth grinding

  • Enlarged ventricles in the brain

  • Irregular involuntary muscle movements

  • Microcephaly

  • Seizures

  • Spontaneous laughter

  • Cortical Visual Impairment

  • Strabismus

  • Higher pain tolerance

  • Higher susceptibility to illness

  • Constipation

  • High and low muscle tone

  • Regression -very rare

  • Swallowing issues

  • Sleep disturbances

  • Nonverbal or minimal word approximations

  • Reflux

  • Temperature issues

  • Low tolerance of heat

  • Flushing

  • Exceptional love of water and music

  • Hand washing motions

  • Small hands and feet

  • High palates

Testing is available through a blood test


International Foxg1 Foundation page on Facebook

I'm Heather, Vice President of IFF and here's my story!

On February 15, 2004 my husband, Greg, and I welcomed our beautiful baby boy, Jacob into the world. He was five weeks early and spent two weeks in the NICU. We knew when we brought him home there would be some delays; however they never really resolved. At six months old Jacob's Pediatrician ordered an MRI. We then discovered that he was missing brain tissue, and would have mental and physical disabilities for the rest of his life. He cannot talk, walk, feed himself, is legally blind, has seizures and a small brain, asthma, severe reflux, and global developmental delay. He functions at about an 8-12 month level and is almost 9 years old. However, Jacob is the happiest kid in the world~ his giggle is pure, unadulterated joy.

Needless to say, it was a bit of a shock. We began to see Neurologists, Ophthalmologists, Gastroenterologists, Orthopedists, and also had Speech, Vision, Physical and Occupational Therapists coming into our house several times a week. While trying to get our feet back under us and learning how to deal with all this, at 18 months old Jacob began to have seizures- his first one was 3 hours long. It was quite probably the most terrifying moment of our lives. We were so helpless- we didn't know if Jacob was going to make it- and if he did, would he be different? Thus began the first of Jacob's many hospital stays, and yet another road-less-traveled for us. After about a year of trial and error on different meds, we finally found a med cocktail that controlled the seizures for the most part.

Things were hectic for awhile, but stable. Jacob started pre-school in 2007 and finally began sleeping through the night (woohoo!!). We then had our baby girl, Anna in 2008 who is an amazing gift-although she does make us want to pull our hair out at times!

In 2009, when we finally made the decision to have a feeding tube placed because of oral motor issues and medication side effects causing decreased appetite, leading to a diagnosis of failure to thrive. It made a huge difference in Jacob’s and our lives, all for the better. In 2010, we were truly blessed to have Jacob approved for a Make-a-Wish trip based on his life-threatening seizures. The four of us plus an aide went to Disney- it was the most magical experience of our lives!

Throughout this whole process, Jacob continued to struggle with seizures. We never knew when they would come, how severe they would be, and whether or not the emergency meds would work. More often than not we had to call 911 as the meds became less and less effective. We eventually learned to live with the "always waiting for the other shoe to drop" sensation, and tried to live our lives as typically as possible. Finally, in August of 2012 we decided, along with Jacob's Neurologist, to have a Vagal Nerve Stimulator implanted for seizure control. It's basically like a pacemaker for the brain, and every five minutes it turns on, sending a 30 second pulse to the brain in an attempt to break up any potential seizure activity. As a result, Jacob's seizures have definitely reduced in frequency and severity. For the first time in almost eight years, the Neurologist has begun lowering one of the three seizure meds, and between that and the implant, we are seeing some increased cognitive function. For the first time, Jacob has begun to talk. He has just started responding with the sound "ay" when his friends and family say "Hi Jacob!" It is the most amazing sound in the world!

The reason I tell you all this is because while all this was going on, we were still searching for a diagnosis. We had been told previous to having our daughter that Jacob has some kind of genetic disorder, although no one could figure it out. We continued testing as the years went on, until one day we got a call- Jacob has Foxg1 Gene Disorder. We poured the internet for more information no avail- we had a name, but the genetic mutation was only just discovered and no signs, symptoms and treatments were available. Our secretary, Stefanie, started a group on Facebook, and the rest, as they say, is history! Over the past year, we have found 34 other children diagnosed with Foxg1 in the world, but there is still very little information available.

We decided to do something about that. This year, myself and 5 other Foxg1 moms formed the International Foxg1 Foundation. Our Mission is to provide support to families with an individual diagnosed with Foxg1; to educate the medical community and public about this disorder; and to provide funding to the three Neurogeneticists who have formed a team and study Foxg1 in the hopes of someday discovering treatments and a cure.

Greg and I are truly blessed to have Jacob and Anna. They have taught us how to life in the moment, to appreciate the small things and to truly see what is important in life. We are one of the many faces of Foxg1, and we can’t to see what the future holds!

Contributed by MOM Heather Norwood

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