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

12 comments:

Unknown said...

So glad you finally have a diagnosis!! I can't imagine going through that for 15 years!!!! Wow!!! It's kinda like a blessing and a curse I suppose. Now you know what to research and know the expected prognosis. Much love to all of you Hooligans!!!! Did Cal test positive???

Pj Mcgovern said...

omg I listened to Lola three times, she has the sweetest voice. A little angle, let me tell you how amazed I am with both your girls and your son too. How proud Are you of these children, so adorable! Please keep those vids coming I love to see Claire take steps, Lola drinking and listening so intently just amazing beautiful

Chrissy said...

Getting a Dx is such a catch-22. The elation of getting answers, to the stark reality of what those answers bring, and unfortunately that the answers sometimes bring more questions. Keep on being such an amazing momma for your tribe.

Granny MooMoo said...

Did you find out if Cal is a carrier? Hope you have a better time coming up. Congrats on the find. Was Bok tested?

Mari ZeGeek said...

Was your son a carrier too?

Gwen said...

Bok is negative. Genetic material cannot cross the rubber-skin barrier. Whew! Lol We aren't sure about Cal yet --- the lab who found the gene didn't take his blood. The other lab has it though, so they may be able to test him. He has a 2/3 chance of being a carrier, but he would have to marry a carrier someday also. Seems rare that would happen, but look at Scott & I!

Gwen said...

We don't know yet about Cal... still waiting to hear results!!! The lab that found the gene did not take his blood, but the other lab did. Hoping they will be able to test his blood sample to see if he has a carrier. He has a two out of three chance of being one!

Gwen said...

Thank you for always being so sweet about our girls – it touches my heart deeply! And yes... that voice and those steps! Love my girlies!!!!

Gwen said...

The good news is that there isn't much known about this condition, so it's not as scary as I thought it might be. I do worry about it being progressive, but I am praying that the girls continue to defy odds in that area as well! Big love!!!!

Gwen said...

We aren't sure yet… The lab that collected his blood is not the same lab that found the gene. So I'm hoping that they will be able to test his sample for it. He has a two out of three chance of being a carrier, so I guess we'll just wait and see!

Rhonda M said...

Happy 15th Birthday to Claire doll!!!

And so glad Lola is feeling better! Your daughters are such angels, and it's wonderful that you share your stories with us!

Wishing your family peace, love & happiness,
Rhonda

MamaV said...

Oh my goodness, a diagnosis! I hope that you are able to find comfort and community through this.

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