Friday, January 23, 2015

Defy gravity

I decided I needed to do a blog post for what I wanted to write down.

Lucy, had test results come back for the X inactivation test. The test shows the amount of duplication/triplication in her body. The results showed that she mostly shut down the duplication. However, we do not know about how much Mecp2 she has. Genetics wanted to do another test called Exome sequencing to do a thorough check of all the chromosomes in her body. I told them I really thought it's because she has a lot of Mecp2 in her body. Now, you may be completely confused about what this all means.
I have explained this to a lot of people, but I see the deer in the headlights look they give me. I know it's very confusing.
So, Lucy has a duplication on the long arm of her X chromosome from 22-28. She also has a triplication on part of 28. She has a 50.4 mg duplication and a triplication of 3.5 on 28.
That is a HUGE amount copied. Now, as a girl we have 2 X chromosomes. One shuts down the other when we are born. The same can happen if you have a duplication. So, often times if a girl has a duplication she can shut it down and be relatively healthy. With Lucy she also shut down most of the duplication. Now, my theory is that she didn't shut down the triplication on 28 where Mecp2 is present. If you have too much or too little of this it makes your whole body go out of wack. We all have it in our bodies. It's just most of us has the right amount so we don't have problems from it. If you have too little you have Rett's syndrome. That happens in girls, boys don't survive. If you have too much it's called Mecp2 duplication. Now, that mostly occurs in boys. The reason being because they don't have 2 X chromosomes. It cannot be shut down with the Y chromosome.
The next step for Lucy is to do a Mecp2 test to see how much is in her body. Insurance wanted a further explanation on this. We are hoping it will be approved. Lucy's blood has been sitting in the lab to be tested since June. It's been a long process with people not staying on top of all the paperwork. I've had to nag nag nag.
I have done a lot of phone calls and emails to find out more about the X inactivation test we got results on. It wasn't clear on what cells were shut off and left on. But, we do know mostly her cells are normal.
I got an email from Dr.Zoghbi. She is the reason why we have hope in finding a treatment for Rett's and Mecp2 duplication. Just google her and you will see how amazing she is. She told me that even a little bit of a change with a duplication can neurologically change things. Since we cannot test the brain we cannot say what happened there. Her theory is that it's the Mecp2 levels that have made her this way. However even with the other cells she could be having problems from this. We cannot pin point and say what those would be. But, we obviously have the evidence that Mecp2 can make these results happen unfortunately.
Once we can get that Mecp2 test done that may give us more clues. I pray insurance will cover it, otherwise it's 500 dollars. No matter what we need to know.
Dr.Zoghbi said that without a doubt Lucy would greatly improve once they can get a medicine out. They are so so close you guys. They have sent their findings to be published. That can take months or up to a year. I cannot say what the findings are, I was not told specifics due to the sensitivity of the project. But, what I was told gave me such hope. I won't even post the little info on that I heard. I don't want to jeopardize anything in their research and blab on the internet.
This is from the 3 year study I raised money for last year. So, thank you to those that donated to that project. We are currently doing another one that is 2 years as well. I was told that could help bring a medicine quicker on the market. So, I'm excited we have more than one project to help us reach our goal. The 2 year needs a lot of money still. If you want to help with any fundraiser ideas please let me know. If you like to shop on Amazon, go to amazon smile and choose Rett syndrome research trust as your charity. It gives some money to Rett's syndrome and Mecp2 duplication. It doesn't cost you anything! It just gives some of your purchase to a charity, isn't that awesome that amazon does that? If you choose the charity it saves it so it will donate each time. Just make sure you go through amazon smile first :).

I admit that I felt heart broken a couple days ago. I felt as though my child was almost normal. If she didn't have that triplication where Mecp2 is. It was too much too shut down. I felt like she was so close..
But, then after reading Dr.Zoghbi's email it made me think. Lucy could have not shut down the area and she wouldn't even be alive. I may not have been able to meet her. This sweet girl has a huge amount in her little body and yet she fights. She fought through as a threatened miscarriage.  She fought through when her body was growing behind in the womb. She fought through a 7 week NICU stay. She fought through Infantile Spasms, Hydrocyphelus, G tubes, Collapsed lungs, and countless hospital stays. She cannot even lift her sweet head, but she let's us know she wants to be here and is even smiling as I type this.
Some parents may just give up after a diagnosis. Some people may question why I keep fighting. I fight because she fights. She is my child and I will not give up on her. We have real hope for her with what they are doing in the labs right now.  To improve her quality of life by just 20 percent would be huge for Lucy. I want to help her as much as I can!
If you are LDS and reading this it even says on the disability page to find out all you need to know about your child's condition and to help them.
I don't care anymore about what people think. It may hurt being shunned by those I love.  I've made a saying and this is how it goes. You find out who really is there for you once you have a child with disabilities. It's so flooring and shocking to me, but it's a bigger loss to them than to me. How unfortunate it is to feel like I'm wearing the Scarlett Letter for taking care of my sweet medically fragile child.
The other day I honestly thought to myself that I really don't give myself enough credit.  And I was having my own Ah ha moment.
"Some things I cannot change, but till I try I'll never know."
Why not defy gravity? I love the musical Wicked. And I think of Lucy whenever I hear the music.

We will defy gravity Lucy and we will fight for that medicine.