Backspacing and Blank Screens

Tonight as I sit here at the computer, I’m telling Rob that I just can’t seem to get my thoughts down in a blog post. It’s as if I have much too share, but every time I begin typing I quickly hit backspace, backspace, backspace until there is nothing but a blank screen again. I suppose this so-called “writer’s block” is running parallel with Lola’s undetermined diagnosis. We had one before and although lissencephaly was a hard diagnosis to swallow…at least we had one. But now Lola’s medical life has taken another unexpected turn when the lissencephaly diagnosis was retracted by a MRI performed here in the U.S. It’s as if someone is hitting backspace and all we are left with is yet another blank screen. I guess I could see this blank screen as an opportunity for something miraculous and profound to be written, but not knowing scares the hell out of me.

I like knowing what is on my screen.

Last week, we got the phone call that Lola’s urine analysis came back “acceptable” which means Lola does not have a metabolic disorder. This was good news as some metabolic disorders can be quite grueling to a young child’s body. But again we were left with more unknowns. Our next step (per the advice of Dr. Zimmer, Lola’s neurologist) was to begin the genetic testing to try and pin point the reason for Lola’s delay. This week, we were approved from the insurance company to go ahead with the testing so Rob took Lola to Riley Children’s Hospital today for yet another blood draw. Lola handled it like a champ and didn’t even flinch when the tech poked around in her tiny vein. We were assigned to Jennifer, a genetic counselor, who said this first round of testing covers a lot of genetic disorders and many that fit with Lola’s symptoms: decrease in white matter, infantile spasms, vision impairment and developmental delay. Jennifer said hopefully we will find an answer with this first round (generally about three weeks for results), but if not, we will continue testing as long as the insurance covers it (which could be months for other testing results).

While we hate to put Lola through the poking and prodding again, it really is in her best interest to know what we’re up against. We are looking for extra chromosomes, mutated chromosomes or missing chromosomes. It could be something that just Lola carries or it could be a trait that Rob and/or I carry. Of course part of knowing will give us percentages of the next child having a genetic disorder, but with or without a diagnosis, our decision to move forward to have a child has not and will not change. I would have Lola over again and again even with the challenges she has faced. Her quality of life is no different than that of a “typical” child nor is ours as her parents. She is happy and thank God she is healthy. Life has thrown her some unexpected curve balls, but she is hitting homeruns each time she is up to bat. She is our little slugger and she fights to reach each new milestone even if it does take her longer to get there. We love her just the way she is, but I pray to God that we will find an answer. My worried heart will rest easier at night if I know she’s not battling anything (in which even my worried heart tells me no – this is not true). A diagnosis can give doctors an idea as to if she needs to be treated differently, it can give insight to her therapists and it can shed light for Rob and me in to how to best care for our daughter. If we understood the why’s behind her ability to conquer some milestones flawlessly while others prove to be extremely difficult, perhaps we will know how to support her in a better way. But at the end of the day, if nothing comes of the genetic testing, I will just have to continue to have faith that she will be OK. That even if our screen stays blank, we will write our own story. In my heart, I know this to be true anyways. No diagnosis will ever hold my kid back. I mean…she’s already learning how to drive.

**Note – I was within arms reach of taking this picture. Please don’t turn me in to CPS!

Last week, Lola’s First Steps coordinator came out for her three month visit. In these meetings we go over previous goals, discuss if they were achieved and we line out new goals for Lola. Our babe has been consistently thriving in each therapy area (even though there are indeed some days where she doesn’t want to do ANYTHING – blame it on being a toddler) and all three therapists commented how much she has improved.

In PT: Lola is crawling, she’s comfortable in a tall kneel, she’s starting to be curious about pulling herself to stand (even did it once before!) and she can stand for longer periods of time with her orthotics on. She wheels around in her walker like no one’s business even if she’s not actually “walking”. She does this cute little froggie jump that enables her to whip around corners and do full 360’s in the middle of the room. She is realizing how much more trouble she can get into like rip stuff off of the refrigerator, tear mail up and crash into dog bowls. It’s showing Lola that she can not only move while standing up, but that she has control over this movement.

In DT: Lola can take circles off a stacker, she is starting to allow the therapist to engage in hand over hand manipulation and she is using her hands to play with toys more so than her feet.

In OT: Lola is banging toys at midline, she will activate toys with her hands (and of course her feet) and she is able to complete bilateral tasks such as pulling an object apart. This week she pulled a string to get a toy closer to her, she managed to activate a toy that is incredibly hard to maneuver and she got so pissed off at her therapist for taking a piece of paper away that she actually pouted, cried and then stormed over to me in a full out protest. We were giddy with excitement at this temper tantrum because (1) she knew the OT took something that was hers and (2) she knew that me, as her mama, was supposed to do something to make it better. Be still my heart! The longing feeling of having Lola need me came on Wednesday in the most profound way possible. As my step-dad Steve said, “It won’t be so cute next time” and while I agree – toddler tantrums are not pretty…this one sure was!

Lola’s Coordinator commented on how well Lola was doing and was thrilled with her improvements. Per our request, we asked if Lola could be evaluated for speech therapy as developmental therapy and occupational therapy are an awful lot alike. It is basically play therapy with the OT focusing more on fine motor skills. So a few weeks ago, we had a speech therapist come out and evaluate Lola. We hadn’t yet heard if she was approved so we were delighted when Lola’s Coordinator told us the speech therapy was indeed going to be added to her regime, but the developmental therapy would be eliminated. We were ecstatic with this news and look forward to working with someone who can help our girl learn to communicate. While she is starting to babble more (we had a 30 minute back and forth conversation the other night spoken in a language only her and I know), she isn’t using words and she doesn’t really associate our words with meanings. She is good at deciphering tone inflection like when we say “No!” she can tell by the tone of our voice that we want her to do something yet most times that doing something doesn’t include her stopping. She knows that when I put wash on her belly and I say “Clean your belly” that it’s time for her to wash her belly and she’ll even try to wash her hair now! I genuinely think she knows more than she lets on, but she quietly sits back and observes. Rob and I continue to say one of these days, words are going to come spewing out of her mouth which means throwing a F-bomb around is no longer acceptable. But just as I said before, she’ll get there when she’s ready and able.

A few pics from my “31st” Birthday dinner on Monday night…