Josie's Journey

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...

If you're having a bad day and you're feeling blue, just watch this video. Josie's laughter is contagious!!

I sent out this email (text below) to friends and family to cast a wider net in our search to help Josie. Thank you to my sister-in-law, Jen for the suggestion. The emails I'm getting already are so heart-warming and helpful. To anyone reading this, thank you. The idea of this email is to help us find help for our daughter, Josie. We figure the more people we talk about Josie with, the more likely we are to find the doctor or person who can say, "I've seen this before." We're casting a wide net. As of today, Sept. 14, 2013, Josie is one week away from being 22 months old. She is developmentally about 5 months old. Josie's symptoms/diagnosis are: Global Developmental Delay. Hypotonia (severe), and CVI Cortical Vision Impairment. She cannot sit up unassisted, roll over, or perform anything above those milestones. Her head circumference is below the charts, and now her weight and height are hovering below the charts as well - although she has gained a ...

Oh the irony of this song/blog title! "Hold My Breath," a song by a band I love called Holy Ghost! (The exclamation point is actually part of the band's name). We just saw them, in Montauk, last Saturday night a few hours after returning from three days at Stonybrook Hospital. We were in the hospital, basically because Josie Held Her Breath. At around 2:50pm Thursday August 15th, Josie was in her crib napping. She suddenly woke up screaming/crying. I was sitting on the front porch on the phone and Janice, our nanny, was in the bathroom just across from Josie's room. Neither one of us ever heard Josie scream like this before. I hung up and ran inside. Janice saw her in her crib, screaming with her arms and legs stretched out stiff. She picked her up and met me in the living room. I grabbed Josie and was petrified to see this screaming. It was like she saw the devil in front of her. Her arms and legs were stiff and she wouldn't stop. I called 911. At that ti...

The blog title is a song title.. My Little Girl - by Jack Johnson. The lyrics go like this: Hey little girl. Look what you've done. You've gone and stole my heart and made it your own. You stole might heart and made it your own. Jack was actually on our boys names list, and then we'd have our own Jack Johnson, but Tanner won. Anyway, GOOD NEWS!!! Josie weighs almost 21 pounds! I brought her to the gym in Montauk to weigh her and as we suspected, she has gained about 3 pounds! If you've been following this blog, you know what a big deal that is! She's also getting closer to rolling on her own. She was never able to pull her arm out from under her while practicing rolling and now she can. She continues to show real signs of improvement. And she is just so so sweet and adorable. On a separate note, I am in search of more doctors. We're looking for a new neurologist, and any top docs who specialize in developmental delays, brian injury, etc. I just want ...

We've moved out to our beloved Montauk for the Summer and someone loves the ocean air. We decided to take a break from Josie's typical schedule of back-to-back therapists and appointments all day. We all needed a break and I think Josie can use some new sensory experiences. That said, I did find an amazing OT in Montauk who is coming twice a week, so she's still getting some very good therapy. I really love this OT, Lori. The truth is that since we've been out here, I've had some scares that she was not progressing, but in the past few days, she's wow'd me. Today I almost cried when she basically rolled over by herself! She's moving so much more, scooting her little legs under her belly, and reaching for what she sees in front of her - with both hands! This is new. I recently described Josie's development like Groundhog Day, she's been developmentally 4 months since being 4 months - so for 15 months. I am pretty certain she's gaine...

Josie is now 18 months old. Here's an update... First, the most exciting news: At the last weigh-in with Dr. Wilkens (pediatrician), we finally saw the curve on the growth charts move up! Josie gained one pound and her head circumference increased by one centimeter! One lb./cm might not sound like a lot, but this hasn't happened in nearly 9 months! I would stand by that scale like a contestant on The Wheel of Fortune afraid of landing on Lose a Turn. Month after month, I'd wait for the digital number to hold steady and when it finally does, it always read between 16.8 - 17.5. How was this possible? Pat Sajak shakes his head like, sorry dude. Well, she is now 18.7 pounds, 30 inches tall, and her head is 43cm. That is still below the charts for weight and head, but seeing the line on the chart move diagonally upward and not horizontal is all that matters - we're in the game - on our way to solving the puzzle. For height, she is actually on the charts - about 8%. Su...