Raising a Child with ADNP

Rare disease day 28Feb2018, I never thought in a million years I would write that phrase. Rare disease, those two words have profound meaning to us now. To be completely honest I never had thought those words. But Jan. 2018 that all changed. Shanna and I were told that our daughter Isabella (Bella) had and extremely rare genetic disorder called ADNP. (See previous post to learn more about ADNP) As we set the appointment to meet with her genetics team to go over these results, I couldn't wait the two weeks to meet the Dr. I set out on my own to find what I could. That's when I met Sandra Sermone, founder of  www.adnpkids.com . She was/is a light in this dark tunnel. As I began to study and learn more about ADNP everything about Bella started to make sense, yet we are left many more questions. The day finally came that we would get to talk with the team of doctors that OU Children's has helped put around us. As we walked into the Children's Hospital at 08:30 that ...

Rare disease day is just around the corner 28-Feb-2018, I never thought I would utter those words, let alone be writing a blog about my little girl. But yet, here we are. I would like to share our journey with you on how we got to Isabella's ANDP diagnosis.  Isabella was born in early July of 2009, years before the discovery of ADNP.  Her birth went like our first two children’s birth. Well for the most part. Everything seemed fine until the nurses started commenting about her color and low heart rate. She was as white as this paper that I first wrote this on. Her heart which should have been somewhere in the 120-160 beats per minute range, but this wasn’t case. We were seeing 17-22 beats per minute. To say the least I was terrified, my wife was none the wiser has they had her hopped up on pain meds. I was given the following reason. Since the doctor had to break my wife’s water, Bella was already so far down in the birth canal he poked her in the head, startling her an...

     As we have set out on our journey to learn more about ADNP Syndrome we have been asked many questions that we just have answers to. ADNP Syndrome also known as Helsmoortel-VanDerAa Syndrome / HVDAS is an extremely rare neurodevelopmental disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene.            The ADNP gene provides instructions for making a protein that helps control the activity (expression) of other genes through a process called chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed. As part of the remodeling process, the ADNP protein attaches to DNA and ...