Whole Exome Sequencing Genetic Test

Hello friends,

Back in May (2015), Brent and I took Rhett to LeBonheur for a complex genetic test called a "Whole-exome" sequencing panel.  The test itself consists of drawing blood from Rhett, and Brent and I had to provide a vial of saliva each.  We had held off on the diagnosis search for a few years, but we noticed Rhett's muscles began wasting at an alarming rate.  Because of this muscle wasting, we decided to see if there was a genetic disorder on the advice of his genetic doctor.  

Well, today, 7/20/2015, the results came back negative.  This does not necessarily mean that there is not a genetic cause since not all genetic abnormalities are documented as of yet.  It was explained to us that we could have LeBonheur run the test results again after a year's time to see if any new genetic disorders match up.  In another 2 months Brent & my genetic results will come in and that could show if either of us are susceptible to any lift threatening conditions (i.e. breast/colon cancer, etc..).

It's hard to know how to feel.  I don't want Rhett to have a genetic disorder, but I do desire answers about what is so obviously wrong with my sweet boy.  The muscle wasting scares me, he's so frail and his little arms are so thin and skeletal.

Rhett has been referred to a pediatric motility clinic by his gastro doctor.  I'm not sure which clinic he will be referred to as of yet as there are a few in the US and Rhett is on a waiting list.  The motility clinic will test to see if Rhett's muscle wasting is affecting his bowel muscles.  Rhett takes a daily dosage of Miralax to be able to use the bathroom effectively.  He is frequently, painfully constipated despite the Miralax and his stomach is often distended like a large balloon, leaving Rhett very uncomfortable.  

Our future also holds a visit to Johns Hopkins Hypotonia clinic in Baltimore and the Shriner's Hospital for Children in either St. Louis or Shreveport.  (We had a visit scheduled last year but had to cancel the week of the trip because he got sick.)  A portion of the donations raised will go towards these visits.

At present, Rhett is getting over another bout of bronchitis.  He began coughing an ugly, wet rattling cough on Friday.  Brent took him to the pediatric ER over the weekend and thankfully, he is not running a temperature and the medicine seems to be kicking it.

Please continue to pray for Rhett.    If you feel led to donate to help Rhett, the donation options can be found on his blog at this link: http://forrhettwithlove.blogspot.com/p/blog-page.html

Thank you and much love!!