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!

Day of Thanks # 24:  I am thankful for short work weeks!!!  Enough said :)

Day of Thanks #23:  I am thankful that Jeff's sister, Jennifer, was able to watch Meghan for a little bit this morning so I could go to Luke's First Reconciliation.  I am also thankful for my mom and Jeff's mom who watch Luke and Meghan when needed.

Day of Thanks #22:  I am thankful for wonderful neighbors!!  Everyone is so helpful and willing to help each other out!  I am also thankful that Luke has kids to play with in the neighborhood.

Day of Thanks # 21:  I am thankful that I have 2 kids who like to help out with house stuff.  Mom gets help and the kids learn to do chores and help others....a win, win!

Day of Thanks #20:  I am thankful for ibuprofen for week's like this week :/

Day of Thanks #19:  I am thankful for coffee!!!  I am also thankful for those that know me well enough not to talk to me in the morning until I have had a cup of coffee first :)

Day of Thanks #18:  I am thankful for all of our nephews and nieces!!  They all have a very special place in our hearts and we love watching them grow up!  We wish we didn't live so far away from all of them!

Day of Thanks #16:  I am thankful for lazy weekends!  I love lazy weekends where we don't have anything going on except relaxing with the kids!

Day of Thanks #17:  I am thankful for the times when we are able to go out to eat and this momma doesn't have to make a meal and cleanup the mess!!

Day of Thanks #15:  Today I am thankful for a good check up with Meghan's neurosurgeon!!  Meghan did excellent today (even though she isn't feeling the best).



Today, Meghan had her 6 month neuro check up.  This was basically just a developmental check.  There was no imaging done today.  He would like to have Meghan come back in 3 months for a rapid brain MRI with no sedation to check the size of her ventricles.  The last 2 MRI's, Meghan has had smaller ventricles.  While it's good to have ventricles smaller in size and not enlarged ventricles, it isn't the best scenario to have too small of ventricles.  When the ventricles get too small, usually due to too much fluid drainage over time, they become like slits (aka slit ventricle syndrome).  If her ventricles are small after the next MRI, he will probably slow down the drainage rate on her shunt, which would enable her ventricles to grow in size slightly.  Again, we don't want the ventricles to get too large, so we will go back 3 months later for a sedated brain and spine MRI.  He will look at the syrinxes on her spine, Chiari and ventricle size at that time.  We will also arrange to have the skin biopsy done at this time as well.  There is no reason to have a shunt series anytime soon (x-rays of shunt system from brain to stomach) as she doesn't show signs of shunt failure or malfunction and she has hardly grown so he doesn't need to look at the tubing in her stomach.  Otherwise, he was happy to see that Meghan is doing great.  It was pretty cool watching Meghan interact with him.  Meg's weight today was 20.7 pounds (fully clothed) and 30 inches...no change.  Meghan has taken her turn at the cold that is going around and she even decided to share it with mom :) 

Day of Thanks #14:  Today I am thankful for long weekends!  I have a 3 day weekend and plan on enjoying every second of it!

Day of Thanks #13:  I am thankful for all of Meghan's therapists!  They are absolutely super with Meghan and are very knowledgeable.  Many times, they have helped answer my questions more than some of the doctors can! You can tell that their job is a huge passion of theirs and not just a job.  I am also very thankful in hearing Meghan adding some new words to her vocabulary!

Day of Thanks #12:  I am thankful that Luke loves going to school and that we are able to send him to a smaller school.  It's a blessing to be able to watch a child go from learning the abc's and numbers, to writing, to reading and now doing multiplication.  I hope he always enjoys going to school!!!

Day of Thanks #11:  I am thankful for the brave men and women who serve - past and present.  My deepest heartfelt thank you to each of you who have been willing to risk your life to protect ours. Your bravery and sacrifice take my breath away. God Bless you always.

Day of Thanks #10:  I am thankful for the quiet time at night after everyone has gone to bed.  It is a time for me to unwind and clear my mind.

Day of Thanks #9: I am thankful for being a part of the I Run 4 group.  I debated about signing Meghan up for a couple of months.  Then, a friend talked me into signing Meghan up one day and I didn't think twice about it.  I just had a feeling that whoever Meghan would be matched with, we would have a unique bond and form an amazing friendship.  This group is almost 9,000 members strong and it is FULL of compassion, inspiration, and bonds that are like no other.  I could literally spend my entire day on this group page reading post after post.  I am truly thankful for Meghan's buddy, Jenn.  This girl has a heart of gold and is a genuinely caring, kind hearted person.  I've never met her, but I feel like I've known her for years.  I hope one day we can introduce Meghan and Jenn to each other face to face.  Now that would be amazing!!

Day of Thanks #8:  I am thankful for a roof over my head and a heated house.  We often times take these simple things for granted and forget how many people would love to have these things!

Day of Thanks #7:  I am thankful for our 4 legged baby...Molly!  She is the best dog.  She's super with the kids and will let them climb over her, tug at her and pick at her.  She's very protective of the kids.  As much as I complain about her massive amount of shedding, I wouldn't trade her for the world :)

Day of Thanks #6:  I am Thankful for my Mom!  She is the most selfless person who will do anything for anyone.  She is the most giving person that I know.  The world sure could learn a lot from her!  She is always willing to help anyone out!  I love you Mom!

Day of Thanks #5:  I am thankful for my job, which allows me to stay home with my kids but still bring in income.  I believe everything happens for a reason and when I started daycare almost 7 years ago, I wasn't sure why I quit my job that I loved to do daycare, but it's so clear to me now.  There's no way I could ever put Meghan in daycare.  I love all of my daycare kids as if they're my own and I love being able to watch them all grow from babies to cute little kiddos who are so eager to learn!

Yesterday, was Meghan's 6 month check up with the Geneticist.  She also had her 3 month ultra sound.  Luke didn't have school, so he got to come along with us to the appointments.  He wasn't too happy about it, but once we were there, he was fine with it and he even held her hand while she had the ultra sound and blood draws.  He just doesn't like to hear her cry.

Here's what we found out:
1.  Her low IGF-1 is a good indicator that Meghan does have a growth hormone deficiency.  BUT, she said the funny thing with growth hormone is that it can fluctuate throughout the day and that is why the Endocrinologist wants to recheck in 3 months.  She did say Meghan's number is quite low, so probably a good chance it will be low again.  But, we won't speculate until it's re-checked and then we'll go from there.

2.  Meghan developed a rash on the right side of her body around 6 months of age.  Of course, every doctor we have talked to about the rash said it will eventually go away.  Well, it hasn't, it just keeps spreading even with the use of multiple different lotions and creams.  She brought in a 2nd geneticist to look at the rash and they both agreed Meghan would be a good candidate for a skin biopsy because of this mysterious rash.  We have already had a blood test to look at her chromosomes.  Meghan's came back normal, except a duplication on her X chromosome.  With the biopsy, it will allow them to get down even further to look at the cells.  She suspects Meghan has some sort of mosaic thing going on and could possibly even have 2 separate sets of chromosomes - one set on each side of her body.  The reason for this suspicion is because Meghan's rash doesn't cross over the midline of her body at all.  It stays completely on her right side...all the way from her head to her feet.  She will have 2 pieces of her skin taken for biopsies and this will be done in May while she will be sedated for her MRI.

3.  She referred Meghan to a pediatric opthmologist to have her vision checked due to her brain conditions and possible mosaic issue.  She also wants Meghan to see a dermatologist.  Both of these appointments will be done in the next 3 months.

4.  They did some blood draws yesterday to check into a couple more conditions.  It could be a couple weeks before we get those results.

We're waiting to hear results from the ultra sound and to check fluid level in the right kidney.  Our next appointment is next Friday with the Neurosurgeon.  I'm looking forward to that appointment because there will be no x-rays, MRI's or blood draws.  Just a neuro check, developmental evaluation and to check her shunt....YAY!!!!

I am a little behind, so I'm doing a little updating!


How cool is this?!?!?!

This was done by Meghan's running buddy, Jennifer and her husband.  I haven't been so moved by a simple gesture in a long time.  There are no words to describe how touched we were when we saw that this amazing family did this for Meghan.  It definitely is the simple things in life that mean the most!  We think it's pretty awesome that their little boys shared their pumpkin for this, too!!!

This year for Halloween, Meghan dressed up as a lady bug.  A couple nights before Halloween, I had her try on her costume.  Meghan has some sensory issues, so some touches/textures/noises put her into sensory overload and she shuts down.  I knew her costume would take time for her to get used to.  I put her costume on her and immediately the tears rolled down her cheeks and she gave me the sign for "all done" about 1,000 times in a 10 second time span.  She wanted it off....now!  The day of Halloween, we had a Halloween party with the daycare kids.  After naptime, all the kids dressed up in their costumes.  I got all of the other kids dressed in their costumes first and then I sat them all down and talked to them about how Meghan didn't like how her costume felt on her.  I asked them to talk very gentle and quiet to Meghan but to praise her when I was getting Meghan's costume on her.  They thought that was pretty cool.  I wasn't sure if it would work, but I know Meghan responds best to quiet, calm and most definitely - lots of praise.  Thankfully, it worked!  The first half hour of her costume on, she'd sign "all done" but we all kept telling her she looks so beautiful, and eventually she was fine with her costume on her.

Here's a picture of Meghan with one of her therapists.  This was on Halloween and she was bowling using ghosts as targets.  She had such a fun time with this!  The reason for this activity is to strengthen her wrists.  Her wrists are very weak and this is a great exercise to strengthen the muscles and also work the rotation so she learns to do a circular rotation with her wrists, which she does not yet do.

Day of Thanks #4:  I am thankful for DVD players for long car rides!!! 

Day of Thanks #3:  I am very thankful for my awesome fiancé Jeff.  He is an amazing dad to his kids and is willing to do anything for anyone at any time of the day.  He doesn't bat an eye when I ask for his help.  He has been by my side through the good and bad.  As I type this, he was paged for a fire call.  I am also thankful for his time that he dedicates as a firefighter.  He puts his heart and soul into being a firefighter and I'm always thankful when I see his car pull into the driveway after a call, as I know the good lord above watched over him and brought him home safely to his family.  I am also thankful for Jeff's son, Colin, who also has a heart of gold.  He has such a fun, energetic personality who is able to put a smile on anyone's face.  We all know when Colin is around we'll get up to date on the sports statistics.  We are blessed!!

Since Thanksgiving is this month, I thought it'd be fun to write about one thing every day that I'm thankful for.  Hopefully I can stick to this.  I am a day behind, so I will do 2 days of thanks today.

Day 1:  I am thankful for my beautiful, loving children.  They bring me so much joy, even during the darkest of times.  All I have to do is look at them and I'm reminded how precious life is and to live each day as if it's our last.  I am honored that I was chosen to be their mom!  I love you to the moon and back Lucas and Meghan!!!

Day 2:  I am thankful for two very important doctors...Dr. Ferenci and Dr. Petronio.  Each of these doctors saved my little girl's life.  If it wasn't for Dr. Ferenci (GI doc), Meghan probably wouldn't be with us today.  He, out of 4 other doctors, was the only doctor who listened to our concerns with Meghan and took us seriously.  If he didn't order Meghan's brain MRI, I hate to think of what life would be like now.  Dr. Petronio (Meghan's neurosurgeon) gave Meghan a new, fresh start at life by placing Meghan's VP shunt.  He gave my little girl the life she deserved and most importantly, she is now a HAPPY and smily little girl.  Both of these doctors restored my faith and trust in doctors.