Saturday, October 22, 2016

We've got answers!

9.30.16  ~  Microcephaly Awareness Day with my homegirls

I am embarrassed that it has been MONTHS since I last updated my blog.  You guys know me well enough by now to know that when large amounts of time passes between posts, it usually means that shit is goin' down.  And suffice it to say, that's accurate.  Much of it has been positive and fun! See list below for the deets...

  1. Claire turned 15 (HOW CAN THIS BE?!?!??!)!!!
  2. We watched Cal finish up/kick ass during his very last AAU summer basketball season with awesome trips all over the Midwest with some of our favorite families.
  3. We witnessed Cal's all-star team win MAYB Nationals on a last second shot which actually made the SportsCenter Top 10!!! (CLICK HERE to view it -- our boy is #15 in the far left corner spotted up to shoot a 3 if needed.)
  4. We started the process of Whole Exome Sequencing (WES) genetic testing for our girls through two separate labs -- one in Boston, and one in Kansas City.
  5. We took a quick, action-packed trip to Colorado with my very favorite people (that may or may not have resulted in Yours Truly contracting Norovirus and needing to get an IV at the hospital).
  6. We cheered our girls on as they both continued to progress developmentally!
  7. We took on a minor house updating project/remodel which involved a new stone fireplace/bar area.
  8. Our girls got some interesting, helpful results from a cardiology appointment.
  9. Our baby boy (He will ALWAYS be my baby boy!!!!!  Is that wrong?!?!?!) started his senior year of high school/was a Fall Homecoming King candidate/took part of his senior pictures already.
  10. We rocked yellow on Microcephaly Awareness Day on September 30th!
  11. We took in a local hockey game with our besties thanks to Mrs. Pocket's nursing agency!
  12. After the game, I got to hear Lola tell me ALL ABOUT why she DID NOT want to leave her BFF's & the game!  MY GIRL COMMUNICATED WITH ME!  Click HERE to listen to LOLA'S SWEETEST LITTLE VOICE! (When redirected to that page, click the PLAY button in the top right corner.)
  13. We did my favorite interview EVER with the coolest people EVER & when I get an air date, I will post it here because I am sooooo excited to see it!!!
Life is SO.  FREAKIN'. GOOD!



But sometimes shit happens, too. Seriously, this last week has been the polar opposite of stellar. Last weekend, our A/C went out during a week when Kansas set record high temps for the month of October. Of course, fixing the problem would prove to be just as expensive as buying a new unit, so cue up the iPhone money-with-wings emoji 27 times followed by the purple angry devil one, the middle finger for emphasis, then one-tear-sad-face and lastly, tears-streaming-down-sad-face emoji then possibly the bullshit, horrible, unacceptable, pistol-replacement green water gun + X-eyes emoji.  Somebody stop me!  (And did I type "unit" up there?!?! HA!)  Due to having to leave the windows open because of said record temps, our sensitive Lola reacted to the many allergens in the air which floated in on 40+ mph gusts over two straight days, and she was on oxygen and felt pretty miserable.  She is on the mend though after taking some homeopathic allergy remedies & using some allergy-busting Young Living essential oils.  I am grateful for guidance & squeezed-in appointments from our chiropractor/applied kinesiologist, because Mrs. Pocket is officially off oxygen just 2 days after going on it & basically back to her "normal."  WHEW.

As if that wasn't enough drama, our whippet, Romeo, had an episode yesterday where he fainted and his heart briefly stopped after fence fighting another dog.  Scott happened to be out there with him when it happened, he picked him up, told him to stay with us, and carried him into the house, where he finally came to. We are pretty sure this is related to his heart murmur and the severe bladder infection he has been fighting for the past several days, as the vet ran countless tests (once again, cue flying money emoji x 1,000,000 that I would gladly spend over & over to be sure my babies are OK!!!!!) and the results of each test were NORMAL.  Thank you, 8 pound, 6 ounce, newborn baby Jesus.  I am learning to not just hate these wild bumps in the road but to view them as little reminders of exactly how fragile life really is and how important it is to enjoy every precious moment we have here on this gorgeous, spinning planet.  I just wish I didn't have to worry so damn much when my babies get sick.

October 20, 2016  ~  Lola, Bok & Nurse Romeo

In true roller coaster fashion, on Monday, I got perhaps the best news of the year!  For fifteen years, no one has been able to give us ANY answers genetically as to what particular gene(s) defects the girls possess.  We started genetic testing shortly after Claire's birth back in 2001.  When she was three months old, we flew to Chicago for further genetic information/testing.  We also submitted saliva samples after Lola was born to a researcher in the UK for yet even more genetic testing.  All of those tests yielded ZERO ANSWERS.  In June of this year, we felt compelled to begin our quest for answers once again.  We knew the research had advanced since we'd last tested, and we also wanted to have answers for Cal so that someday when he wanted to have children, he would know if he was a carrier like we were.  We knew it was a long shot, but we decided to submit blood samples to both labs.  We sent blood samples from all five of us to Boston for testing.  We also gave blood from Scott, the girls & me to a genetics lab in Kansas City.  We crossed our fingers that we'd find something out, but honestly, we weren't sure we were meant to know.

On Monday of this week, I got a call from Genetics in Kansas City saying they had a diagnosis.  I almost couldn't catch my breath.  A DIAGNOSIS, y'all!!!  Should I say it a third time?  THEY HAD ANSWERS!!!!!!!  They told me they'd figure this whole thing out, and THEY FREAKIN' DELIVERED.

Scott & I were found to be carriers of this gene defect (it is an Autosomal Recessive gene, resulting in a 25% chance of this occurring each pregnancy, as we suspected), and both girls presented with the ASNS gene for Asparagine Synthetase Deficiency.  It apparently causes most all of the girls' diagnoses, and the one picture I was able to see of another affected child could have passed for a Middle Eastern, male version of Claire at age 4.  The newborn baby picture looked IDENTICAL to my girlies' noggins/faces/chins/ears/head shapes!  This appears to be what we have been searching for all these years...

I will be curious to hear if the other lab in Boston confirms this result and/or finds anything else. It certainly feels good to know more, but it also feels a bit scary.  There are 12 known cases of this in the world, though there are probably others who are still undiagnosed as our girls were prior to Monday.  I am not aware of any other cases in the U.S.  I read online the incidence is <1/1,000,000 worldwide.  My girls are rare, yo.  I already knew that, but holy shit.


I read that ASNS typically involves cerebral atrophy and that it is progressive. That scares the fuck out of me.  While I know the girls' prognoses have always been grim, I have become the queen of pushing it out of my mind -- sometimes many times a day -- because I am unable to process this harsh reality without it completely shattering me on a soul-level.  I want to believe my girls are an exception to this rule because their heads are growing still & their development is progressing. Surely this cannot be a sign of atrophy or degeneration.  I will hold out hope that they are setting a new standard for this diagnosis & that they will be giving hope to other families who are diagnosed with this condition down the road.  My online research found a family with 3 affected individuals with ASNS who lived into "the third decade of life."  That gave me hope.  Hope is literally ALL I NEED at this point.  It is all I have EVER wanted & needed since day one.

We have a conference call next week with our team at Children's Mercy Genetics Department to learn more about the specifics of this condition and to answer our many questions at length. I am both giddy and nervous, all at the same time.  A big thank you to Dr. Amudhavalli, Laura, and the entire Genetics Staff at CMH for giving us something we have sought for MANY years and feared we'd never find... answers.  It truly means SO MUCH.


xo

Thursday, July 28, 2016

Thankful Thirsty Thursday

So, a few days ago, this happened... again!  (My longtime followers might remember THIS VIDEO I posted on YouTube back in July 2013.)  We were between feedings, and both Scott & I stopped to get a drink, so I thought I'd offer one to Lola, too.  My girl drank from that water fountain like a G!!! And clearly, now we're gonna need to install one in the living room.  HA!  I am trying to hunt down a converter for our little, skinny reverse osmosis dispenser that might turn it into a drinking fountain. How awesome would that be?!

I had to share pics and a video with all of you.  Thank you SO MUCH for always seeing my girls' worth & value.  You have no idea how much that means to all of us!






video


xo

Wednesday, July 20, 2016

Finding Answers

It isn't a secret that Us Hooligans have been MIA lately, and for the first time ever, I am perfectly OK with it. My most recent blogging hiatus was so needed after a CRAZYYYYYYY winter/spring with all the Zika virus/microcephaly media attention. We are grateful to have had the privilege of sharing our girls' lives, and we were lucky to work with some amazing journalists who truly have gifts of telling our family's story so beautifully.  To them, we say THANK YOU!  

But I'm not gonna lie, it has felt positively scrumtrulescent getting our lives back to "normal." (If you don't click through and listen to that 0:02 clip of Will Ferrell saying that genius word on SNL, you are missin' out!) Where was I? Oh yeah. We've just been livin' the dream! Without going into too many details and instigating a full-fledged sob-fest, suffice it to say that I am oh-too-painfully aware of the fact that my only-child-who-will-attend-school-and-likely-graduate-in-a-robe (though not ruling anything out with our dwarves) has <gasp!> ONE. YEAR. REMAINING. Oh yes, you read that correct. Cal is about to start his SENIOR YEAR OF HIGH SCHOOL. My babyyyyyy!  My son.  MY HEART.  I almost cannot even discuss this situation without tearing up. My emotions have been swirling like a real shitnado up in here. One day I have brilliant perspective, complete with a smile, uplifting thoughts about how "maybe by then I'll be ready," and how he is "preparing me slowly for him leaving by being gone all the time now," and I should be proud of myself that I've "raised him right" so he is "ready for the world," and how much fun it will be to have a student in college who is hopefully playing basketball and growing up and figuring out his future & all that jazz.  I try to convince myself how awesome it will be to have my "nights free" and how much we'll be able to "get done around here" and how we'll be "more social with friends we've lost touch with" and how we'll be "poppin' bottles" & "knockin' boots" more without all of Cal's schedule in the mix. 

Other days (and trust me when I say I try to not let these days outweigh the others), I am a complete disaster. I cry randomly when people ask me non-related questions.  I bring it up at inappropriate times.  I think about it incessantly.  I dwell on how DIFFERENT life is going to be without him around... how QUIET this house is going to be... how different *I* will be. (Damn floodgates opened up already?!?!) Don't get me wrong, (and here's that damn disclaimer again!) I LOVE MY LIFE AS IT IS.  But the keywords there were "as it is." I'm not a huge fan of change. I very much like my life exactly as it is RIGHT THE F NOW.  Thinking ahead to the future has me more flustered than I feel 4 minutes into HGTV's Tiny House Hunters. (I mean REALLY?!?!?  Who wants to live in a 173 sq. ft. house with other people and pets FULL FREAKIN' TIME?!?!?)

We've been living in the moment, you guys. FULLY enjoying the year I DO have left.  I don't wanna miss anything. We've been following Cal all over the country to his various AAU basketball tournaments & truly trying to spend time with him while we can. Hope you guys understand!  I do try to stay active on our Hartley Hooligans Facebook page and on "The Gram" in case you need your daily fix of Da' Hooligans. See you over there!



Recently we re-started genetic testing for Claire & Lola. We are working with Walsh Labs, a part of Boston Children's Hospital, on our quest to try to find answers about our genes.  We began genetic testing when Claire was born, and so far, we have zero answers. We are aware that could happen again, but with technology being more advanced now, we're hoping that this time will be different. The process could take months, years or even decades.  No one knows.  But we're happy to say that the ball is rolling.  We are hopeful that in time we'll be given more clear answers as to how our girlies got their genetic superpowers. Also, we're hoping to find out if Cal is a carrier as well and what his risks are for having children like Claire & Lola someday many, many, many years down the road. We will certainly keep you all posted of any results that come our way!

Our girls were very brave getting their blood drawn.  Missy may quite possibly be the best phlebotomist on the planet. She was so patient with the girls, their high tone, and all that 'tude.  Big love to her for always making my their blood draws as non-dramatic as possible!

"Bitch, I KNOW what's comin'.  GET OFF OF MEEEEEEE!!!!"

"Son of a Nutcracker, that hurts!!!!!!"

"Oh wait.  That's not so bad!"
(Shortly after this, Claire fell asleep while Missy finished up!)

And then it was Lola's turn...

"Ummmmm, tell me you are trying to help me do my best Funky Chicken move right now..."

FFS!!!!!!!!!
(The vein blew.)

Trying a large vein in her lower leg...

Ouchy!
(The large, super-visible vein that was going to be "THE ANSWER" blew also.)

Moving on to the groin where we were able to get a full tube+ from our wee little Lola!
(Did I mention that it took like 5 minutes for it to slowwwwwwwwly trickle out?!)  
Blood from all 5 of us plus saliva from Lola (since she was only able to fill one tube of blood!) was successfully sent to Boston!  YEAH!  We are also on a 10 month waiting list to be seen in office for a genetic evaluation in KC.  Hoping to start WES (Whole Exome Sequencing) then in addition to the testing Boston is doing.  Fingers crossed!

The girls have been busy during summer school learning about the Badlands & various other awesome ecosystems.  Can I just get an "Amen!" for all my fabulous teachers/therapists that take time out of their summers to come work with our girls?!?!?  WE LOVE YOU!

Amy playing hardcore rap videos about Bison for the girls off YouTube.

Claire gettin' it DONE in her new Rifton Gait Trainer!

If you didn't see the video of her walking, click on this link to see my girl in action the FIRST TIME SHE GOT IN HER WALKER!!!!!!!!  Talk about a blubbering mess of tears... it was THE MOST BEAUTIFUL THING I HAVE EVER WITNESSED IN MY WHOLE LIFE, aside from my kids' births & possibly that one raccoon video where he stands on his hind legs and uses his tiny human-like hands to rattle that rock against the sliding glass window repeatedly for like 2 minutes so he can get more food in his food bowl because he is a freakin' G, but that's beside the point.

MY GIRL IS WALKING, YOU GUYS!!!!!!!!!!!!!

The long lost Kardashian sister, minus the gigantic ass, fantastic tan, and fake boobs.
We shall call her Kola.  Or maybe Kocket.  HA!



xo

Thursday, April 28, 2016

TEN

Today you are 10 years old, my darling Lola. I can barely wrap my mind around the fact that you have graced this earth with your sassy presence for a decade now.  How can that be?  Is it that whole time warp thing I have discussed many times before?  Is it true what people say about time passing so slowly when you're young and then as you grow up, it flies by in the blink of an eye? Not even gonna admit that time has flown by because I am old, because I'm still super young and spry, right?  (Dadgummit, who uses the word "spry" anymore?!  If you answered "the elderly," imma fixin' to tar & feather ya'.  Hell's bells!)

Ten.

Ten fingers and ten toes that I didn't even count the day you were born.  Somehow, it seemed so unimportant.  All that mattered was that you were here and breathing and alive.  I cannot tell you how frightened I was the day my water broke, one month before your due date.  All I'd heard your entire pregnancy was that no one knew what the future held.  They weren't sure if you'd be similar to Claire or different.  They weren't sure if you would survive the birth or have major complications. I was asked to answer questions that I was not ready to have to answer about resuscitating you, intubating you, and saving your life.  The answer was always YES, Lola.  Please do all you can, just as you would if she were "typical," I told the doctors.  I hated that word -- "typical" -- because you and your sister were anything BUT typical, and the opposite felt so negative, harsh and unknown.  I prayed every single night for you, sweet girl.  I cried and bargained with all Higher Powers to shave years off of my own life if they'd spare yours. 

Ten.

Ten sonograms.  Ten chances to see you before your birth.  Ten reassurances that you were still alive and stable.  Ten opportunities to fall in love with you even more.  Ten times I prayed that somehow, miraculously, you'd be healed.

Ten sonograms = The number of sonograms necessary for me to realize that you didn't need healing.

You were already everything I had hoped and prayed for.  Your tiny, malformed brain would not define your life or determine your worth.  You were here to experience life just as you were.  The only person who needed to change was ME.  

Ten.

Ten perfect birthdays that we celebrated on your behalf.  Ten special days I wasn't sure I'd get with you just ten years ago.  It is mindblowing all we have been through over the course of the last decade.  Choosing the pictures below really took me back.  It allowed me to remember and sit for awhile with each passing year.  Oh, we have come SO FAR, baby girl.  You have proven time and again that you want to be here.  Thank you so very much for choosing to stay.

Unicorn crown from Nova Sky's Co.
A huge thank you to Fatima Lee for sending this beautiful crown to our sweet, magical Unicorn Princess.
(And one to Claire, also!)

A peek back through the past ten years...

2006

The day of your birth... You were -- and still are -- so perfect, Lola.


2007

This picture reduced me to tears immediately upon seeing it.  I am 100% convinced that the siblings of individuals with special needs are some of the most incredible, considerate, compassionate, loving people on the planet.  Cal has always been everything his little sisters needed.  From the day both of them were born, he loved them unconditionally as only their big brother could.  His ability to see past differences, accept people for who they are, and love with his whole heart has inspired me more than he could ever know.  I could never have survived Lola's diagnosis without his wisdom.  I am so honored to be called "Mom" by these three children of mine.


Possibly my favorite baby picture of Lola EVER!  This is what she thought of therapy toys back in '07!

2008

Notice Cal trying to help Lola blow out her candles?
<SWOON!>

Birthday Princess!

2009

All the cousins!


2010



2011



2012



2013

Post chicken pox.
These pictures were hard to see.  She was SO. THIN.  Notice she is wearing the same dress as in the top picture above, but she literally swam in it.  It is a 6-12 month size (thanks, Jessica!), and at age 7 above, she had lost so much weight due to being ill that she could barely wear that size.  Heartbreaking to see where she was, but we are so grateful for the progress that has been made the past three years!  Lola is seriously the strongest person I have ever known.


2014


#IDFWU

2015



2016
Drop that knife, OJ Mrs. Pocket!!!

#CashandLola

Lola, Kerby, Cal & Claire  ~  Prom 2016


Ten.  

Ten times I kissed you, through tears, just now after reading you this post.  Ten tears streaming down my cheeks.  Ten "I love you's."  Ten seconds of eye contact after telling you that you are the most perfect third child I could have ever asked for in this life, just as you are.  

Happy 10th Birthday, Mrs. Pocket.  I love you to the moon ten times and back.



xo
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