thank you so much for all of your prayers. God is good and we have been given good news! lucia officially does not have prader willi syndrome!! also, lucia does not have any significant errors in her DNA. they did find a tiny deletion in her 17th chromosome (17q24.2 to be exact), but it is not related to any known syndromes. adam and i are getting tested next week to see if either of us has this tiny deletion. if we do, then it is less likely that this deletion in lucia is causing her hypotonia and feeding difficulties. if we don’t, then it means she could be affected by this deletion and it could be an extremely rare syndrome. this basically leaves us still stranded in the land of the unknown.
so, the next steps for us are to get lucia a g-tube surgically placed in her tummy since her oral feeding does not seem to be improving. along with this procedure, our gastrointerologist would like us to have a nissen fundoplication done to lessen lucia’s vomitting sprees. we are bit anxious about this as it is a significantly more invasive procedure as opposed to just a g-tube placement. we have begged our doctor to let us try different medication to see if her vomitting will lessen without having to add the nissen. we have until the beginning of september to see if it improves.
during this surgery lucia will also have a muscle biopsy done to confirm that she does not have mitochondrial disease. even the mention of “mitochondrial disease” sends deep anxiety and fear into my heart. i beg you again to pray that our lucia does not have this genetic disease.
finally, after all of this is complete and this final test comes back negative, lucia will probably have a brain MRI to check for any malformations of her brain. i am asking God with “groans too deep for words” that lucia will receive a clean bill of health. i am asking Him that once all of this is said and done we can stop all of this testing – and rest a little while. as we enter this next phase of surgeries and testing for scary diseases, i pray that God will give us strength, courage and most of all that He will remove this horrific anxiety that has taken residence in our hearts.
thank you from the depths of my heart for your prayers.