Meghan has been a busy girl wanting to do everything all by herself lately!  She missed last week of therapy as she wasn't feeling well.  She has this week off due to the holiday.  She has learned lots of new signs including cheese, cracker, cereal, apple, cookie (her favorite new sign lol), kitty, shoe, ball, hot, cold.  She is trying so hard to get words out.  We are seeing small progress in language, but we'll take every little bit of progress that we can get!  Her favorite thing to do lately is talk on the phone! 

We are still waiting on the results of the genetic tests from a few weeks ago, but we did get the Geneticist's dictation from our appointment, or as I refer to it - the what they never tell you report.  The dictation states that the Geneticist has a very high concern for Meghan to have an underlying genetic condition and she highly suspects a mosaic difference in which there are two genetically distinct cell lines in her body, one of which contains a genetic abnormality.  This is where the skin biopsy will come in to try to make a diagnosis, however, it is possible that the mosaicism is secondary to a single gene change, in which case, identifying an underlying diagnosis would be more difficult.  She suspects that Meghan's rash is related to her underlying diagnosis.  Because of the possibility that Meghan could have a neurocutaneous mosaic syndrome, she wants Meghan to see a pediatric ophthalmologist.  This is scheduled for January 15th and will be a 2 hour appointment.  God help us that day!  Neurocutaneous syndrome is a broad term for a group of neurologic (brain, spine, and peripheral nerve) disorders. These diseases are life-long conditions that can cause tumors to grow inside the brain, spinal cord, organs, skin, and skeletal bones.  Just to clarify...underlying genetic diagnosis simply means the genetic condition hasn't been identified yet.  It doesn't particularly mean it's a rare genetic condition; although depending on if a genetic abnormality is found, it could end up being a rare condition.  All of this genetic testing takes a lot of time - sometimes years - to get answers.  I wish I understood mosaicism more, but it's way too scientific for me to even try to comprehend.  It would make sense if Meghan has 2 different cell lines as all of her conditions (except neurological and spine conditions) are on the right side of her body - fused toes, body rash, leg length difference, girth difference (hemihypertrophy), Hydronephrosis.  She even has an epicanthal fold (skin of the upper eyelid that covers the inner corner of the eye.  The fold runs from nose to the inner side of the eyebrow) on her right eye, but not her left.  Strangely, the right half of her hair is different than the left side as well, but is only noticeable when wet. 

Jeff left a couple days ago to go on a hunting trip with some of his friends.  I think Meghan was trying to stop her Dad from leaving :)

Meghan's runner ran her first race since being matched with Meghan!  She did awesome and placed 40th out of 117 runners!  We are so proud of her!!!  Meghan got a special package in the mail recently from Jenn.  The package included a Mighty Meghan cape, a book of Dora stickers, Old Bay seasoning along with suggestions on what to use the seasoning on and a yummy recipe, a package of delicious cookies made locally from where Jenn lives, the race medal and bib from their first race together and a Raven's window cling for Luke.  I think it's pretty awesome that she sent Meghan her very own medal and bib!!  We have the bib, medal and cape displayed in a special place in Meghan's room.  Meghan loves wearing the cape and medal!!  Jenn will be running another race in a few days so we are busy making her sign.

A little motivation we sent Jenn the night before her first race as Meghan's buddy :)

 

Look closely...Jenn's shoe laces say I RUN FOR MEGHAN

Opening her special package from Jenn

 

Showing off all of her goodies!!  Thanks Jenn!

Meghan wearing her Mighty Meghan cape hand made from Jenn...this girl is talented!!!

 



Hard to tell from her expression but she was telling quite the story while looking at her medal!