Josie's story

Josie was born on November 23rd, 2011, our Thanksgiving baby.

There were no complications with my pregnancy or delivery. Her apgar score was 9.9. Nothing to worry about!

By four months, we noticed that Josie wasn’t tracking things with her eyes.  And so our journey started down the road with a pediatric ophthalmologist.  We soon learned it wasn’t actually her eyes, but her brain that isn’t telling her eyes what to do. She was later diagnosed with Cortical Vision Impairment (CVI).  Our first neurology visit was at six months. Her MRI showed a normal brain and her EEG showed normal brain activity. The doctor said, “good news, there’s nothing structurally wrong with her brain, but you should do genetic testing.”

We saw a geneticist who tested for everything she could think of testing for that matched her symptoms: hypotonia, microcephaly, global developmental delay, vision impairment. She checked Josie for Rett Syndrome, SMA, Prader-Willi, and many more.  All tests came back negative. I’ll never forget the feeling of waiting on these results.  She obviously didn’t test for Foxg1 and the funny thing is this geneticists name is Dr. Fox.  I can’t blame her because there were only about 30 people known in the world with Foxg1 at that time.

So what in the world is wrong with our daughter? We spent a lot of time and money trying to find out.  We brought Josie to every doctor that we found from Western to Eastern doctors. We saw one holistic doctor who told us he knew what happened. He said the toxins in the vaccines she received caused brain damage that can’t be detected on an MRI. Without a diagnosis, I didn’t know what to believe.

Meanwhile, Josie started having something we called “bad attacks,” which later would be diagnosed as tonic-clonic seizures. They happened often and eventually there were several occasions when they were worse than “bad.” She would stiffen and stay stiff and turn blue and become unresponsive.  We have experienced more than one ambulance ride to the ER – flashing lights – sirens – the whole nine.

In November of 2013, we met with a geneticist who had a new test to look for rare genetic conditions. It’s called Whole Exome Sequencing and instead of the geneticist having to know what to look for, WES looks at every gene in the genome. It took six months to get the results.

On April 10, 2013, we sat in the geneticist’s office and he explained to us that Josie has Foxg1. He painted a very dismal prognosis, said things like we might want to consider keeping her in an extended-stay hospital at some point. What? Why would we keep Josie anywhere but at home? He had limited information to share with us and I have since learned that his dismal prognosis is just not the case.  We’ve learned more about Foxg1 through the International Foxg1 Foundation (Facebook parents group) than most doctors know.

A few days after we got the diagnosis, Josie had another grand mal (“call 911”) seizure. We spent several nights in the hospital and only caught a mild version on the EEG, but it was enough to start her on anti-seizure meds.  Seven month later, about four more multi-night EEGs later, and we’re still trying to find the right medical cocktail to stop her seizures. She’s on three medications right now and recentlystarted a ketogenic diet. Her last seizure, although mild, was at five o’clock this morning.

Josie turns three on November 23, 2014. She still can’t sit up unassisted, although she can for a few seconds now.  She doesn’t roll, crawl, walk, or talk - yet.  While she hasn’t reached any major milestones developmentally, she has progressed in many ways. She’s so much more connected and alert. Her vision is so much better. She can hold her head up so much better. She can walk in her walker!  She’s very vocal. And the best is that she is just so happy! She laughs and smiles all day long. She anticipates and plays with anyone who wants to play with her. She speaks through those giant beautiful eyes.

I have tremendous faith in the IFF, in science and even in miracles.  While Josie is perfect to us, of course we will do anything to help be perfectly healthy and able.

I strongly believe that this will be her story to tell one day.