Leaving HER mark and a BIG Deal!

Of all the doctors and therapists we've met for Lu, we have yet to meet one that is familiar with Pallister-Killian Syndrome.  We actually have only met one doctor that has even heard of it.  However, that is about to change!  On Wednesday we are taking a trip to Philadelphia, to CHOP, The Children's Hospital of Philadelphia.  There is a geneticist doctor there that specializes and studies PKS, Dr. Ian Krantz.  Ian's met several of the PKS kids and works to study and help in any way he can.  We had talked about going earlier but Lu seems to be in good hands in Denver and we wanted to see how she developed a bit before jumping to get evaluation.  So, just 8 days shy of being 1 year old, this Wednesday we are making the trip.  CHOP conducts a rare genetics clinic every month.  She'll see a geneticist, Dr. Krantz, a physical therapist, development, feeding specialist, and ENT doctor, including an audiologist.  After meeting with Lucia we hope to have a better sense of Lu's condition, how her future may look, and most importantly what we can do to give her, her best life. He and some of his team have seen other kids like Lu so if anyone can, he would be the one to give us more insight.  We understand that no one can really say what her future looks like but if he can guide us a bit to help her more, great.   They'll give us feedback, recommendations, and hopefully reassure us that we have and are doing the right things for Lu.    Honestly, I'm excited but really scared too.  Will they say she seems severe with PKS? , that they don't anticipate certain things for Lucia? ..maybe, and maybe not, we'll just hope and pray for the best.  Lucia is who SHE is and that is our wonderful, special little angel, nothing can change that.
I told Jason's mom last week that we weren't sure we were going to go right now...what would it really do for Lu and is it the right time, am I ready to hear what they might say about Lu.  etc.., and she said something that I loved.  Even if you don't find anything new out, Lucia is giving herself to their team, to help in PKS, she is leaving HER mark to maybe help other kids down the road.  I love that and have only been excited to go since.  Thanks Linda!  So, we'll be at CHOP on Thursday and Friday and then off to visit some great friends in New Jersey and NYC!

Something else remarkable happened this week.  Last night Lucia responded to a toy.  The electric toy piano, given to Lu by Becky Hemphill, won Lucia over!  I presented the toy to Lu, as I had done before, but this time was different, she looked at it, smiled, giggled and tried to whack the keys,  She responded this way for a few minutes and we could not believe our eyes!   Jason and I practically jumped on her lap and doubled over with joy.  It was so incredible, magical to see our child connect like that.  Jason recorded the last minute and was only able to catch one smile but its still really cool!  As Emily Gold said once.  Special child + little things=BIG deal!   It was a BIG, BIG, AMAZINGLY WONDERFUL DEAL!

Thank you Nathi for the delicious family lunch on Saturday and the fun Lucia clothes and accessories, including a ba-ling ba-ling gold pacifier.  Thank you Amanda and Scott Moss for purchasing two Lucia T-shirts!  Thank you again Becky for the amazing piano gift!  Thank you Lu for making our week with your piano skills and for being our BEST baby! So in love...

at Nathi's place- Cousin Marco and Lubird

cousins and kimmy!

And Happy Two Year Anniversary to my husband tomorrow.  I can't imagine my life with anyone else.  You are an amazing husband and the best father Lucia could ever ask for.