Tuesday, March 18, 2014

She Will Write Her Own Story

We finally met with the geneticist, Dr. Saenz, last Thursday.  I had it imprinted in my mind they would want to do a whole work up of Mila.  I honestly thought she was going to be another statistic they would add into their studies.  She probably will be to some extent, but I tried to get as much knowledge through my own efforts.  Hence the dental and vision exams.  Michael kept reassuring me, there was not much more they could do.

Our visit did not take all day...in fact it didn't even take all morning.  They came in with calm voices, smiles, and encouragement.  Our genetics counselor, Kristina, shared with us, the portion of Mila's chromosome missing is actually the the most critical portion.  I believe there is only a few other kids in the 15q24 group that are missing Mila's same portion of their chromosome.  Back when Mila was first diagnosed, I googled her exact chromosomal "loss" number (15q23q24.2) and the info I came across was daunting.  I read it several times over thinking..."this isn't Mila!"  Obviously, Mila has this syndrome...but these kids this article described, were in no way, shape, or fashion, our Mila.  It was that moment that made me realize how blessed we are!  Our biggest medical problem has been recurrent ear infections.  We have had no hospital visits, no medical complications, no surgeries!  How can we not be grateful for these obstacles?  I feel like we can overcome anything!

15q24 microdeletion syndrome is very broad.  There is no black and white.  Meaning, they cannot determine Mila's outcome.  I couldn't have prayed for a better scenario.  I don't ever want anyone telling me what Mila will be like in 5 years, 10 years, etc.  We promise to give her everything we possibly can to maximize her function.  I will fight for her until I can't fight anymore.  She will be the exception!  Dr. Saenz told us, "Mila will paint her own story.  Each day is a new day.  Each day is a milestone."  I seriously could have kissed her on the spot! These words have been my words since day one!  Before Mila was born, I told Michael many times, "I just want Mila to be different."  His usual response, "don't worry babe, if she's anything like her mama, she won't be like anyone else."  Well, Lord, 15q24 syndrome wasn't exactly what I had in mind, but we'll take it.  How right Dr. Saenz is!  Mila will define who she is through our journey.  It is up to Michael and I to provide a life for her where she can grow and prosper.

Our BIGGEST celebration this week.... Mila has taking the initiative to pull up to stand!  This is HUGE for us!  It is her gateway to walking!  For months now, our prayer has been, we want to celebrate her 2nd birthday as a "walker!"  The last 24 hours of motivation and hard work she has put in, lets me know, we are on another uphill climb!  I'm so proud of my girl :)  I love her soooo good!

God's Country...Our view everyday!

Wednesday, March 12, 2014

Adventures...Craziness...New beginnings...

Where has the time gone?  We've been busy and life has been flying by.  From celebrating birthdays, nursing ear infections, family time, friends visiting, and school (yes, I am back in school), there is literally never enough time in our day.  Michael and I have been so tired for weeks now!  It's not for lack of taking care of ourselves, because we've been working out 5-6 days a week for almost two months.  Not to mention, we eat really well too.  Mila had a weird week of sleep due to three new teeth and an ear infection.  As exciting as "spring forward" sounds,  I swear the time change is kicking our butts!

This week has been nuts.  We have three doctor's appointments, genetics meetings (our first), and therapyx3!  We had a new dentist today so I was a little leary, but he was great!  You know you have a great dentist when he sings The Itsy Bitsy Spider aloud with you to keep your child calm.  It's her favorite song and soothes her every time :).  The dentist informed us Mila has a very narrow palate and not a lot of room for her big girl teeth.  The bottom teeth are starting to crowd, so her last set of baby molars will probably make it worse.  He mentioned teeth being pulled & braces in the near future (not surprised).  She was such a big girl during the first few minutes of her exam, but quickly fell apart when she realized he was going to stay in her mouth for a while.  Wouldn't you?  I have a major dentist phobia!
Showing her pearly whites :)
Mila is scheduled for an eye exam today.  Mostly because I need to know her vision is ok, but also because I want to take as much data with me tomorrow for out genetics appt.  Friday, we'll have another consult for tubes and schedule that procedure.  Having six ear infections in less than a year is five too many!  Mila is likely to have bad allergies like her daddy so we'll continue Claritin daily until we get them under control.

Of course my anxiety is back up as usual.  The week of a "BIG" appointment always has my wheels turning constantly.  My heart has been heavy lately over the fact that Mila has no words.  I'm very grateful she still makes her sweet noises, but some days I just want to hear "mama" or "dada."  I'd even be ok if she wanted to yell "NO" all day :)  It's fun to document new sounds she makes, but all those past syllables we thought she could say, are now non existent.  Speaking with other moms of 15q24 kids, this seems to be a common trend.  Verbal progression followed by digression.  What is with this disconnect?  It's so frustrating.  Although her being nonverbal is a possibility, I refuse to accept that right now.  I have to hope we will hear her sweet voice one day!

We recently honored Rare Disease Day on Feb 28th by rocking jeans all day!  We spent our day at kindermusik and sleeping (she was recovering from her virus).
My bracelet of "hope"
I couldn't resist these overalls!

We've tried to sneak in some family fun when Michael has time.  Recently, we went to an old mining/gambling town, called Cripple Creek, that was having an "Ice Festival."  The elevation was almost 10,000ft and it had snowed, so needless to say, it was COOOOLD!  We had a good time though :)
my blue eyed babes

Last week, my friends came to stay with us for a little while.  It was so nice being able to drink coffee and have girl talk with Candace and Jordy.  I'm so thankful I don't have high maintenance friends haha!  It was nice to be on "our" agenda.  They were completely understanding to Mila's schedule too!  We got to do some hiking...check out significant landmarks...hit up the mountains for a day of snowboarding...and have some good girl time.  I wish I had taken more pics...I'm so bad about that.

Since it's taken me all day to write this...I can now say that Mila's eyes /vision are perfect.  Since low tone affects every part of her body, including her eyes, I wanted to know they were ok.  Strabismus has been documented in kids with 15q24 and some have required glasses.  Thankfully, her optic nerve and all her reflexes are adequate.  No sign of glasses needed during childhood!! I know some people might think having all these exams aren't necessary, but if something is "broke," in a nonverbal/developmentally delayed child, we won't know if anything needs "fixing."

Latest of Mila's "milestones" we've celebrated:

*Climbing over obstacles with and without initiation
*Doing a ton of tall kneel standing and even walking on her knees

*Standing whenever someone can assist her...she can't figure quite how to pull up to standing.  It's not for lack of trying, but something isn't "connecting"

*She's getting really good at sorting shapes

We did a "simple" evaluation that puts Mila on developmental scale by age.  Some questions we couldn't quite answer, but as of now she is approximately on a 14 month gross motor scale.  Since standing independently and walking were included in several questions, she obviously couldn't get credit for any of them.  Fine motor scale is on a 16 month level.  She'll be 20 months on the 16th, so we're still somewhat behind.  I'm confident we'll continue to keep moving forward and she will become stronger everyday!  We rejoice in the fact that she's happy and healthy :)