Charlotte's Full Diagnosis

It's been three months since that phone call... I haven't written anything, because quite honestly, that phone call knocked the wind right out of me and I've spent the last three months trying to catch my breath and pull myself back up on my feet. I've wanted to write and fill everyone in so many times, but quite honestly, there hasn't been anything to share. Quite a cruel joke really..."Hey, something is abnormal on your child's chromosome test, but you'll have to wait three months until we can see you and answer any questions. And so, we waited - the longest three months of my life. I've cried, been in denial, over analyzed every move Charlotte makes, prayed A LOT, cried more, hired a professional counselor to help me process all of this, leaned hard into my faith and church family, called my friends who are in this same boat too, cried some more and waited...three long months.

Yesterday we were finally able to meet with our genetic counselor to find out what is going on in her and get the best idea of what Charlotte's future might look like. It was information overload and while our genetic counselor really did an outstanding job of avoiding the very scary stuff, there are the things that just can't be avoided in discussion.

The official diagnosis is: Partial 5p Deletion Syndrome or what is more formally known as Cri Du Chat. Before you switch your screen to Google and research what that is for yourself, PLEASE stick with me for a moment. What you will read there, is NOT an accurate description of Charlotte and is not what she has. Hear me out here. =)

Charlotte has a larger than average deletion in the P arm of her 5th chromosome. However, our little monkey presents as more mild than most cases. (I know it's confusing to me too) She only has a few of the key characteristics and most of them don't even apply to her. Honestly, every medical professional that she has seen has been genuinely surprised at her deletion. They all same the same thing, "She is SO mild, I never would have guessed!" Does that mean she doesn't have areas of struggle? No, but she presents herself as a typical 2 yr. old child who simply has a speech delay. Our geneticist strongly urged us to never treat her any differently. "Treat her just like you would any other child her age. To do anything different would only be detrimental to her and become a self fulfilling prophecy." So, we ask you all to please treat our Charlotte as you would any other child her age. It will give her the best possible outcome in life and push her as far as she can possibly go! It is truly the biggest way you can support her and our family in all of this.

Along with her specific deletion are areas that we will always need to have on our radar. While there is no immediate concern, we will be following up next month with CHOA for extensive testing on her Heart, Spine and Renal System just to confirm that there is nothing abnormal going on there. We will have to do this annually for the rest of her life. Please pray for perfect health in all of that! She also has a higher likelihood of developing seizures, but again, no current issues there either! Praise the Lord! I was "relieved" to hear that her sleep issues are not anything we are doing wrong and comes with the territory in her syndrome. She often takes a long time to fall asleep at night and will wake for 2-3 hrs in the middle of the night just wide awake. We've tried everything to help her and while it is disheartening that this is something we can't control without medication, it is nice to know that there is help out there for her to get a full night of sleep! (and us too!)

While all of that can feel very heavy, again, I want to reiterate that there is no immediate concern for anything health related. We are just covering all our basis. We were happy to hear that our current plan of care for her is the best possible one we could have, so for the time being, we will continue with her therapies for PT, Speech, OT and Feeding. Later this year we will be adding ballet and preschool to her routine where she will be able to interact with typical children (the term used to describe "normal" kids.) by being submerged in an environment with kids without speech delays.  This will encourage and push her further than even we can as her parents. Keeping up with your peers is an awesome motivator even in overcoming delays! =)

We welcome any questions anyone has and will answer them to the best of our ability. I know the special needs world can seem overwhelming and scary and while it can be and often is a very tender topic to parents of these sweet littles, I realize that the only way the world around us will grow past the awkwardness is to be educated and know that their questions are safe.

Thank you all for your continued love and support. YOU all and our two rays of sunshine are truly what keep this family going.