Lola


Lola Grace

Lola Grace was born one month prematurely weighing 5 lb. 10 oz. on April 28, 2006 after a fairly normal pregnancy and an oh-so-speedy (natural!) delivery.  Due to the fact that her big sister, Claire, has a genetic condition called microcephaly, meaning a small brain and head, we monitored this pregnancy closely via ultrasound. We were told that we likely had a 25% chance for recurrence, but the risk was worth it to us to have another baby.

We never expected to hear that Lola was also affected, but at our 22-week sonogram, her head measurements showed considerable lag, and microcephaly was confirmed a month later. Obviously this was a huge shock to us, as we felt confident that it would not happen again (we knew we had a 75% or greater chance that all would be OK) and all measurements were on track until that point.  We were devastated initially, but this soon passed as we realized that this was the same child that we waited nearly five years to conceive, the same child that we wanted desperately, and the same child that we loved with everything in us, regardless of the size of her head.  We knew the immense joy that Claire brought to our family, and we had no doubt that Lola would enrich our lives beyond belief as well.

5 months old

Considering we'd already been through the ringer with Claire about five years earlier, we knew that we did not want the labor, delivery, or her life in general to be anything less than serene and perfect.  We already felt once what it was like to have our baby whisked away, poked and prodded, and evaluated to the "nth degree."  That's not living, as far as we're concerned, and we are pretty much "experts" on Claire, so we felt confident that we'd know how to care for Lola, too.  Therefore, per our requests, "microcephaly" was never mentioned during Lola's birth, she was treated like any other baby, and her delivery was very healing for our family in many ways.  It WAS perfection.  In addition, we refused all testing for Lola after her birth, as we had already "been there, done that" once with Claire, and we STILL had no answers about why this occurred.

August 2015  ~  Lola with her bestie, Cash, our very special whippet
Search #CashandLola on Instagram for more pics of this duo!

Lola is very similar to her older sister in many ways, but she is also quite different.  I think we initially expected more similarities due to the fact they both had congenital microcephaly & presented mostly the same; however, this is not the case!  Lola has muscle stiffness and increased tone like Claire, though their structural issues are quite different. Claire has scoliosis, where Lola has kyphosis.  Lola does not have a feeding tube like Claire; she eats by mouth. We also use an NG tube with Lola as needed, due to the fact she is not able to be put under anesthesia. And though both girls have seizures, Claire's are longer yet less frequent while Lola's are shorter & occur in clusters.  (Confused yet?! HA!)  I was blessed to have been able to breastfeed Lola for just over 2 years (compared to 8 months with Claire. Don't hate...HA!), which was such an amazing bonding experience.  I will never forget those precious moments we shared. (Though I am not ashamed to admit that I was BEYOND GLAD to finally return my rented breast pump and never see it again for the rest of my friggin' LIFE! 2+ years of nursing with an SNS (Supplemental Nursing System) followed by pumping 3-5 times daily was enough to drive me batshit loco!  But again, it was SO.  WORTH.  IT!)

Today, Lola drinks a goat's milk formula by bottle (which is all Miss Sensitive can tolerate!). She also eats organic fresh fruits and veggies by spoon. We continue to search to find foods she is not allergic to, though it has been tough. Lola LOVES to eat, does so as often as a newborn, & let's just say, she can put it away! Her big sister, on the other hand, FAR prefers being fed via g-tube. So, you'd think that Lola would be growing faster than her sister, right? Alas, Lola is SIGNIFICANTLY smaller than Claire was at this same age -- to the tune of 5+ POUNDS smaller! Go figure. I need an instruction manual!

Lola with her GG (Great Grandma Alice)  ~  September 2012

Lola does have microcephaly, dwarfism, reflux (her deadliest weapon ~ our girl can projectile vomit with the best of 'em, topping out at 12 ft. in distance!  Based on size, that would be like an average sized adult vomiting approximately 35 ft. in distance?! Our girl's got skillz, yo.), Cortical Visual Impairment (CVI), epilepsy, spastic quadriplegia cerebral palsy, kyphosis, two of the cutest little strawberry birthmarks you've ever seen (on her chin & chest), and extreme stubbornness.  We thought CLAIRE was a diva... well, Lola is working hard to show her sister up!  She is also a thrill seeker, unlike big sis, and she will give us the CUTEST, subtle grins if we toss her in the air, zoom her around, or swing her in circles.  Our little daredevil knows NO FEAR!

We know that our family is definitely not "the norm."  We know that we are basically a walking freakshow when we go out in public (!), as we have not one tiny-headed, non-mobile, non-verbal dwarf, but TWO.  We feel the pity and the judgment, we hear the comments, questions & remarks, and we see the stares, elbow nudging, and sheer surprise -- and none of this matters to us, because WE LOVE OUR LIFE.  We love our three children, feel blessed by each unique child, and wouldn't change one thing about our life or what we've been through. We only wish everyone could feel what *WE* feel on a daily basis.

THANK YOU for taking the time to get to know our little Lola!  She is a fun, feisty little girl.  Don't let her size confuse you -- she may be small (12 lb. at age 10!), but her personality is BIG!

April 28, 2016 ~ Our little thug unicorn


*OCTOBER 2016 UPDATE:  We began further genetic testing during the summer of 2016 with hopes that with the increase in technology and the advances in science, we might be able to get answers regarding the girls' condition.  We sent bloodwork from all five of us to Christopher A. Walsh Laboratory in Boston to take part in a research study on developmental disorders of the brain. We also visited Children's Mercy Hospital's Genetics Department in Kansas City, Missouri for a clinical evaluation and to begin the process of Whole Exome Sequencing (WES). We were recently notified by Children's Mercy that our daughters now have an official diagnosis! Both girls have a Neuro-Metabolic Disorder known as Asparagine Synthetase Deficiency (affecting the ASNS gene). Both Scott & I are carriers for this gene, and it is autosomal recessive, as expected.  This means that we have a 25% chance of this occurring with each pregnancy.  It is not more likely to affect our girls, and the fact that our son is neurotypical and the girls are not is simply chance. We are in the process of testing Cal's blood to see if he is a carrier, as he has a 2/3 chance of that occurring. Likely this will not be an issue for him in his life, as this genetic defect is extremely rare. I posted more about our findings in THIS POST, and I hope to update more about this diagnosis very soon. We are so very grateful to Dr. Amudhavalli, Laura & the entire Genetics Staff at CMH for their time and efforts to help us finally get answers, after 15+ years of having none. We also want to thank Jennifer and everyone at Walsh Labs for their continued research on our girls' condition. We could not have asked for a better team to work with across the board.  

xo
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