Doctor's Notes ~ TBS Diagnosis

The sub specialists geneticist has submitted her report to us and our pediatrician.  I thought I would share the highlights with you.  She basically is stating that based on the variants in his SALL1 gene he is considered to have Townes-Brocks Syndrome.  This is an autosomal dominant disorder and as such if we were to get pregnant again there would be a 50% chance of having another child with problems like Thomas.  I had assured her that we were not looking to have anymore children at this time and therefore do not need to move forward with genetic counseling on that front.

We were currently aware that with similar disorders kidneys may be effected.  We had an ultrasound on Thomas' kidneys and all was fine.  However, there is evidence that young adults will develop kidney disease who have TBS, therefore, it has been suggested that Thomas has a CMP (Comprehensive metabolic panel) each year to check for developing issues in his kidneys.  We shoudl do the same on his thyroid as it was also suggested as this is another organ that may be affected by TBS and develops issues over time.

We also learned through the exome sequence study that showed that he may have a difficult time metabolizing certain types of drugs.  These drugs include but are not limited too anti-depressants, anti seizure medicines and certain blood thinners for the heart.  To me this is quite disturbing since any one of these may be needed in his future, but there again this is extra information we just happen to know that we can use in his future when and if needed.

I will be meeting with our pediatrician in a couple of weeks and we will review this information and adjust our game plan for Thomas as needed. 

Thank you for all you do for us.  Keeping praying and being positive for us!!  I hope someone makes you special tomorrow on this Valentine's Day.

"No one has ever seen God; but if we love one another, God lives in us and his love is made complete in us." (1 John 4:12)