The first tier was analyzing about 4,000 genes. These are genes that have been discovered and defined and if someone has a mutation, it is generally understood. For example, it can find out if someone has a genetic marker for Alzheimer's or a specific cancer gene.
We were told recently that our results would not be back in May this year as planned. Well guess what, the first round is back and we came up with blanks. Ugh! No answers...nothing...seriously! Why are all tests so "normal" but our child is not?
Now we move into the "Clinical Diagnostic Exome"...analysis of 20,000 genes. These genes are essentially uncharted territory. We know they are there but they remain anonymous as to what they relate to.
"This is the most comprehensive option clinically available on the market. This test includes analysis and interpretation of coding regions (exons) of virtually all genes in the human genome (~20,000 RefSeq genes). This option includes whole exome sequencing for family trios and analysis and reporting of novel gene discoveries. Co-segregation analysis is also included." (http://www.ambrygen.com/exome-sequencing)
The target date for completion is October 28th 2013. Yes, it will have been a whole year we will have waited. It sounds bananas doesn't it! My child has an elusive disease! We have already named it the Logan Syndrome! Why not, at least we can try to convince ourselves that we know what it is, something unique and rare. It is Logan!
So the game of cat and mouse continues. Maybe someday we will catch the mouse! Until then, we live. It is what it is! But don't let me fool you, it is painful and frustrating. It breaks my heart to see my handsome helpless child suffer day in and out.
Suffer, yes I said it. I do feel he is uncomfortable on a daily basis. He is in a body that won't move the way he wants it, he cannot speak his needs, and almost every swallow he makes shoots saliva into his lungs. Have you ever been drinking water and you choke on it? Then you cough, your eyes water, and your throat hurts. That is because it went down your airway. Logan does this every day, all day and is unable to control it. It sucks!
I know a diagnosis will not fix the problem. We have known that all along. We are already on the path of supportive measures to prevent illness, increase comfort, and aide in activities of daily living. That is what all parents do, we just do it in a different way and the rewards come slower than a snails pace. So diagnosis or not, we will carry on.
Someday I may have a post to share that will have answers. That day may be joyous or possibly devastating. It may provide no comfort or may bring peace of mind. I feel at this point, that pursuing answers is to benefit our daughter Lauren. We want her to know that if she chooses, she can have a family of her own someday and know if there is a chance her child could have the "Logan Syndrome".
I am out of new pics so I thought I would share an old one from December 2011
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