He has what??

Christmas 2010....Laik is 6 months old.

Before you even start to read this, know:  I am still in the process of completely figuring out the "in and outs" of Laik's trisomy.  I' m sure over time my understanding and description will get better.  Those of you that are more familiar, please forgive me if I misinform.  


Trisomy 12p?  What is that?  


Todd and I hear the question often.  And without getting scientific it is easier to just say:  It's like Down Syndrome but different.  It is more severe and certainly less common.


Most people recognize the term Down Syndrome, but are not aware that it is a trisomy as well.  Down Syndrome is trisomy 21 and it has a name.  Laik's condition is so rare that it is simply called Trisomy 12p.



From the website:  www.rarechromo.org
  
A chromosome 12p duplication means that part of one of 
the body’s chromosomes has been repeated or duplicated.  
If the extra chromosome material contains important
instructions for the body, learning difficulties, developmental 
delay and health problems may occur. How obvious these 
problems are will depend on how much of the chromosome 
has been duplicated and where the duplication is.  
Genes and chromosomes:
Our bodies are made up of billions of cells. Most of the cells 
contain a complete set of tens of thousands of genes. Genes 
act like a set of instructions, controlling our growth and 
development and how our bodies work. Genes are carried 
on microscopically small, thread-like structures called 
chromosomes. There are usually 46 chromosomes, 23 
inherited from our mother and 23 inherited from our
father, so we have two sets of 23 chromosomes in ‘pairs’. 
The genes and chromosomes are made up of a chemical
substance called DNA. 
Apart from two sex chromosomes (two Xs for a girl and an 
X and a Y for a boy) the chromosomes are numbered 1 to 
22, generally from largest to smallest. Each chromosome has 
a short arm (at the top in the picture on the left) called p
from petit, the French word for small, and a long arm called 
q (at the bottom). In a 12p duplication, there is extra 
material from the short arm of one of the two  
chromosome 12s.  
The duplicated piece can be small or large. When the 
duplication includes all or most of the short arm, it is 
sometimes called a trisomy. A smaller duplication will 
include just part of 12p. You may be told the ’breakpoints’ 
where the chromosome has broken and rejoined.


Well, that was a ear full, wasn't it?  


What I will tell you is that every case is different!  Just like with "normal, typically developing" children, there is a vast range of delays and disabilities within the trisomy.  We don't know exactly what Laik's future will be like but we know this right now:  He is the joy of our lives and we thank God daily for him.


Here are some current Laik facts:


1.  He is a healthy boy!
2.  He eats well.  
3.  His hearing is good.  (tubes helped and we finally passed an OAE)
4.  His vision is good.  (we see the Eye Specialist every 6 months)
5.  He is sitting up independently!


Again, it's called Trisomy 12p.  We will learn as we go on this adventure!  I have made contact with about 6 mothers of T12p children, ranging ages 3-5.  I am grateful to God that I have these women to give me a glimpse of what the future looks like. 


In a nutshell, that's what Laik has! Plus, a family that loves him like no other...especially me!

Spring Break 2011....Not so sure about this sand!