I’m going to try my very best to explain Reese’s chromosome disorder in technical terms. I never imagined that I would have to understand/study genetics and for the record it’s very complex! However, after having genetic counseling I feel that I have an understanding for what happened with Reese. All normal females have (2) X chromosomes and 1 of them go inactive–that did happened in Reese. [I’m using the word “normal” because it’s simply the word geneticists use] However, the problem occurred when there was a little extra X chromosome duplicated (created). That extra X chromosome than “trans located” to the number 2 chromosome. From our genetic counseling session”trans location” of a chromosome is worse than no chromosome moving around in the genetic makeup–if that makes sense. The extra X chromosome then deleted a little bit of the number 2 chromosome which actually would have not caused any issues. The issue lays with that extra X chromosome “trans locating” to another chromosome–creating XQ28 duplication.
Here is one of the medical documents on XQ28 Duplication:
Now, in my previous post “Rebuilding” I mentioned why I think this happened… there is a technical reason too. Reese’s genetic makeup happened during conception. There is nothing that Kyle or I did to our bodies to cause this mutation. Gosh, I hate that word–mutation but that’s the reality of truly explaining what happened. So, I’ve been asked–Can it be fixed? That question doesn’t upset me because honestly before this happened to us–I may have not really been aware of how a genetic disorder truly effects someone. The answer is NO it cannot be “fixed” but we can provide Reese with the absolute best opportunities for her to achieve her full potential.
Many have asked… what about future children! Wow, how my plans have changed. I was hoping to have my next child 18-22 months from Reese but did you noticed the sentence began with “I” not God. So, I’m not sure what God’s plans our for the Nichols’ Family but I know he will never forsake us and he is always FAITHFUL! Lamentations 3:22-23 (for his compassions never FAIL) 1 Corinthians 1:9 (God is faithful) Now some know but not many–Kyle and I had to have the genetic testing done in order to know if this could occur again in future children. This was another one of those tough things… that I just didn’t like to touch. It took me a while to actually just go get the testing done. Why? The “Unknown”–mostly the devil likes to make your mind his playground when you’re dealing with a lot of unknowns. So, I really had to put on my armor to fight this spiritual warfare that was occurring regarding the testing….
If I was the carrier… my thoughts: I caused this for my daughter (that’s heavy burden to carry), I won’t biologically have other children (that’s hard to think “you” don’t get to choose that option)… the list goes on and on but those are the two main thoughts I had…
Well, it turns out that Kyle and I are NOT carriers or have any abnormal chromosomes that caused Reese’s mutation. Yes, Praise God!
However, when I received the news yesterday… I have to be honest… tons of different emotions started to overflow my body. Yes, I’m happy but I guess I truly thought I may have been the carrier. I feel that I would have known for sure “why” it happened but actually this takes us right back to God. As I sit here and type–tears are just flowing because I know without a doubt God made Reese just the way she is… and did it for a reason. A reason that is hard for me to understand at times because I’m not amazing, I’m not strong… I am only these things thru Christ who strengthens me each day (Philippians 4:13). I so appreciate everyone’s sweet comments that I’m amazing but the truth is that I’m not–it is only thru the Holy Spirit that fills me that I can do for Reese as God wants me to do. The conclusion of how this happened in scientific world–spontaneous.
After reading several definitions for the word spontaneous–I will go with: produced by natural process.
Now, you know I asked for more information regarding future children and the statistical outcome of genetic issues. It is less than 1% that XQ28 duplication would happen. There are several test that can be done during pregnancy to determine if that child would have XQ28 duplication but we would not elect for those tests. However, when the child is born they would automatically test for XQ28 duplication with all the other normal standard testing.
There is another avenue that we have thought about/prayed about for a long time–adoption.
So, where will God lead our family–I have no idea at this time… but I do know I will give it to him and he will be our guide!
The LORD will guide you always; he will satisfy your needs in a sun-scorched land and will strengthen your frame. You will be like a well-watered garden, like a spring whose waters never fail. Isaiah 58:11