Wednesday, April 23, 2014

Detailed Chromosome Info

We have known about Hazel's chromosome 6 micro-deletion for a few months now, but recently we have been reading some detailed information about C6 Deletions which was provided by our geneticist (Dr Golder Wilson).  The PDF (found at the bottom of the post) is a lengthy document but is a good read with information about other children with this micro deletion and to what extent it impacts their life.  

I don't think that everyone will want to read through the document, but it is worth posting if even one person wants to learn more.  I wanted to post it just in case anyone wanted to thumb through it, glance at a few pictures of the C6 kids or learn more about what this could mean for Hazel.

If you decide to take a look, just know that Hazel's deletion is 6p 25.3 through 25.2.  Meaning....6th chromosome, "p" meaning the short arm of the chromosome and 25.3-25.2 is the specific portion where her deletion occurred.

Hope everyone is having a great week!

Thursday, April 17, 2014

Hitting the Reset Button

I feel like there has been a lot of changing and evolving information that I've put on the blog in the last six months, so now might be a good time to hit the reset button and give everyone a "current status" of sorts.  There are a lot of things about Hazel which some people know, but not everything we know about her makes it to the blog.  It's unrealistic to think that I will post every little thing that happens and many people have been focused on praying for her eye condition...unfortunately, there is more to Hazel's life than an eye condition.

After going through a detailed screening (a few months ago), we were able to determine that Hazel has a genetic deletion on the short arm of Chromosome 6.  It is considered by our geneticist to be a micro-deletion.  A chromosome deletion is exactly what is sounds like....if you were to take the long strands of DNA from her sixth chromosome than you would find that a section never developed and is simply not there.  There are a very limited number of Chromosome 6 deletions in the world (around 40 active cases) and it is very likely that Hazel is the ONLY person in the world with her specific deletion.  If you can't tell from the description, this is rare.  Really rare.  Like..."they don't have a name for it because its too rare" territory.  You won't find a fun run to raise awareness or a certain color of ribbon that people wear to raise funds for research.  Hazel is a 1-in-7 Billion scenario.

Her condition carries with it a number of potential issues, but there is not much data to work with to determine how likely health issues are to arise.  It's safe to say that more articles will be written about Hazel's condition than are available to read about her C6 deletion.  Being born with eye issues is on the list of possible problems, which is why she was born with cloudy corneas and has required four surgeries in her first six months.  She also has a few other things that could happen down the road because of her C6 Deletion, such as: heart conditions, spinal issues, hip dysplasia, enlarged head size, cognitive delay, emotional delay, delayed growth and a few others that I can't remember without consulting our genetics report.  Hazel's C6 Deletion is the top of the pyramid for her health issues and everything else that happens is a result of the genetic issues.

We have been going down the list of possible issues and addressing them one-by-one to try and get ahead of anything that we can.  Hazel has had two echocardiograms of her heart which found a slight defect called PDA, she has had a hip and spine ultrasound which ruled out any early spine and hip problems and most recently, Hazel had an ultra-sound of her head and an MRI.  The MRI from earlier this week revealed that there is extra fluid around her brain, resulting in a condition known as hydrocephalus.  We are being referred to a neurosugeon in order to get a second opinion and talk options for draining the excess fluid.  It might seem obvious, but conditions involving the brain and head are pretty it's been a stressful week for us.  We thought we were past the biggest hurdles when we did her fourth eye surgery, but now we have a new area of concern.  The relentless nature of these health issues is really taking its toll...

There was a time where Aubree and I did not want to fully disclose what is happening with Hazel and her genetic deletion.  It might sound strange since she is still a baby, but we were concerned about Hazel being thought of as a medical case or as the girl who has a disorder instead of just being a child.  At the end of the day, this is Hazel's life and this is how it's going to be...but this has been the hardest six months of lives.

We both feel comfortable now talking about her genetic deletion, especially since it is creating new health issues which can use the power of prayer.  We know how many people are praying for our daughter, including people who have never met us or know us personally.  Thanks to everyone who keeps Hazel in their thoughts and for all the encouragement over the past six months.

Hazel's 6 Month Photo