Wednesday, November 28, 2012

Syndrome. . . what a word!

Syndrome is really an odd word.  It can be a no big deal or life altering.  Doctors use the word syndrome when trying to define a group of symptoms or features.  Some are more common than others or have gotten more publicity.  Others seem to be made up and pulled out of thin air.  But what does it all mean really?

 Thomas has been definitely diagnosed with Klippel Feil Syndrome (1 in 42,000) and Duane Syndrome (effects less than 200,000 in the United States) both are considered rare.  In addition to these syndromes, Thomas has other unexplained issues that gave him the encompassing possibility of having Wildervanck Syndrome.  This is a triad that combines the eye syndrome, the fusion and bone issues with his hearing loss issues.  We went to a sub specialists geneticists to try and find the answers and get it on paper.   She is extremely expensive and not covered by our insurance even though we continue to appeal.  We discussed it and had decided it would be better to do this type of research now for several reasons.  First was to make sure we used the current technology to get a definite diagnosis to help us not miss anything else that could be wrong with our little man.  When you find one thing after another that didn't develop properly or isn't working it worries you that their are other things that have yet to surface or may go unnoticed.  One diagnosis after another has led to additional testing, which so far has worked to our advantage.  The second reason was that if we could put a name to it that it may help if he needed financial assistance or school support.  Labels are huge in our society and can really help or harm you.  Either way, we wanted to know what we were facing.

We did the initial DNA test and that test basically came back saying that yes he has them all.  That was a wonderful relief but then leads to more questions.  We then made the decision to send Thomas' DNA to Baylor University which is one of two places in the United States that does Exome Sequence study of DNA.  We had to complete a long form of all the abnormalities that Thomas has and they attempt to link those to a change in his DNA.  They have found variants in Thomas' SALL1 gene which may be related to a different syndrome that has not been discussed with us before.  They are currently testing my DNA and my husbands to confirm this diagnosis.  If we carry this change also then we do not have a change in diagnosis.  However, if both of our SALL1 genes do not show this variant then they would give Thomas a new diagnosis of Townes-Brocks Syndrome.  *sigh*  I have already started googling this syndrome and it sure doesn't sound like it is as good as a fit as Wildervanck.  They are both extremely rare and do not get a lot of recognition in the medical field.  Townes-Brocks affects less than 200 people in the world. 

I definitely don't want to say we did all of this for not because I don't think we did.  We have ruled out a lot of potential issues that don't exist with our Thomas, which is a huge relief.  I know the DNA doesn't lie, but I really think in the end we already have our answer and the test will just be our back up for any agency, medical organization, etc. that we may come across on his life journey.

On a lighter note, Thomas has been doing better in PT and I think is building up some endurance.  We have been working hard on his hump back issues to strengthen his core in order to not only help his neck, back and posture but to help his eating as well.  We have started with the kenesio tape on Tuesday and he never mentioned it today.  YAY!! I think he has already gotten use to having it on.  My SIL mentioned out of sight out of mind and in this case I think it worked!!  It provides just enough tension to him that he should want to sit up and stand up straighter which in essence helps to reteach his muscles how to work and to build of strength for those positions.  I am quite excited about it and it isn't as big of a deal as I thought it was going to be. 

Don't want to bring you down, but on my heart tonight is a family who has lost their child tonight.  He had similar issues as Thomas although much more severe.  As a friend of mine stated, a lot of people don't think of scoliosis as a big issue because it is quite common in teenagers and adults and usually causes minor problems.  It is a much different issue when its congenital and you are born with it.  The effects on your body begin immediately and there is almost nothing you can do to stop the growth of the bones and their formation.  Its always tragic when a little one is taken so soon from their mother's arms.  My prayer is that they can sleep peacefully knowing their baby will suffer no more and has been healed by our ultimate Healer in heaven.

I am thankful that we have such a loving Father God to entrust our family with his Thomas.  He is such a blessing to us all.

Thomas getting kisses from his two older brothers.

1 comment:

  1. Love all of my Jolley family. This is a precious picture. Love and prayers are always with ya'll. Your Granny