Josie's Journey

[This is the blog post written in 2014 when we got Josie's diagnosis and years before I knew I'd be co-founding the FOXG1 Research Foundation to find a cure] On April 8th I got the call we have been waiting for since November. Katie, from Dr. Iglesias' office (the Geneticist at Columbia), asked "Is now a good time?" I said "yes." I think I held my breath in those few seconds between my apprehensive "yes" and her telling me the "gene mutation we found in Joise is..." She explained that Josie has something called Congenital Rett Syndrome. No, that can't be it, Josie was tested for Rett Syndrome a year ago. But this is Congenital variant of Rett Syndrome and is caused by a different gene than the MECP2 gene that is responsible for about 90% of all Rett Syndrome cases. Josie has a mutation on her FOXg1 gene. There is a significant difference. Most Rett Syndrome children develop quite well until about 18 months, but the word Co

That's a John Mayer song.. Supposedly about Jennifer Anniston. Anyway, The Johnsons headed West for a trip to Cali! We stayed at our Qello West Coast Headquarters, which just happens to be the former home of Jim Morrison! It's amazing and you just can't help but feel the ghost of music greatness all around you in Laurel Canyon. There is so much music history there. Before I get into Cali, an update on Josie's test results - we won't know until April! Seems the word is out about the Whole Exome Sequencing test and the lab has become inundated. So, we will wait. Now onto the week of sunshine, theme parks, and great sleep! Josie just sleeps better through the night when we travel! She loved California. We first stayed in LA, went to Disneyland, and Lego land, and then stayed down by the beach in Santa Monica! Josie's first ride! It was a Buzz Lightyear (baby) ride. So silly! Just hanging outside Jim Morrison's old home in the sunshine! They do

Ok so this isn't Josie rolling all by herself, but it's so so close! She has what it takes and she's starting to put it together. Tanner is the paparazzi taking pictures while I was filming this. Notice how Rich is calling it the "tuck and roll." She's so close!

That's another Jack Johnson song. We're in a bit of a holding pattern now as we wait for the results from the Whole Exome Sequencing test. Any doctor we see now says there isn't much they can say until we get those results. We saw Dr. Magana this week - a pediatric endochronologist at Winthrop. He did Josie's measurements and the good news was that her height is actually on the charts, but her weight is still way below the "growth rate" charts. She gained 3 pounds since last december (2012). We talked a little about growth hormones, but she would have to be three years old, so we have a year before we need to think about that. She is still showing signs of progression. No milestones yet, but she is bringing her legs up to her belly now and she even rolled over a few times all by herself. Of course, not when I was looking, but we have witnesses. She is pushing her pelvis up by her legs, which is new. And she is so so happy. We spent 10 days in Florida o

That's a line from the Paul Simon song "Father and Daughter." Josie just turned two! It was two years ago on the day before Thanksgiving when we were blessed with the greatest gift. Our little girl, Josie, was born. We knew she would bring so much love to our family, just like her brother, but we didn’t know how much she would teach us. Josie, our mama pajama, jojo beanie, lollipop, and countless other names, is our constant reminder that some of the greatest challenges in life can also be the greatest sources of joy. My world has grown so much larger in these past two years. This little bundle of pure love has shown us so much.

Josie is starting to scoot! She's going through a developmental growth spurt right now! Tonight she moved her little body more than she ever has! She can move herself in a circle around the mat and she's starting to inch forward! We took off her pants to make it easier for her. Try to resist the urge to bite that little tushie. Look how determined she is to get that ball! Josie is also doing better in her walker (gait trainer) every day. She walks backwards in it a little and even takes a few steps forward with a little help. It's definitely helping her gain strength in her legs. We saw a new neurologist last week, Dr. Molofsky at Beth Israel in NYC, and he commented that her legs are strong. That was a first! As far as our visit with him, he was a really nice and clearly a very smart neurologist, but he didn't have any answers for us. His recommendation was to do the whole exome sequencing test, which we've already done. Anyway, Josie is impressing me so

First, the email I sent out brought us so many connections. We have a list of doctors we want to see and new avenues to take. Thank you to those who went out of their way to help us and even just to reach out to me. It means more than I can express here. Last week, we saw Dr. Iglesias , Pediatric Geneticist at Columbia University Children's Hospital. It's actually called Morgan Stanely Children's Hospital. Anyway, he was great. He spent a long time with us, discussing everything we needed to discuss. I went there knowing I was interested in doing the Whole Exome Sequencing test for Josie and that is what we did. Whole Exome Sequencing has not even been around for a year. It is a breakthrough in science that is leading to the discovery of many undiagnosed genetic disorders. In simple terms, the test looks at every single gene in the genome - all 21,000 - and can tell us which, if any, have anything wrong. Then they can compare that information to the database and s