One of a Kind
In some instances, ignorance is bliss. In essence, what you don’t know can’t hurt you. For three and a half years we lived in this kind of limbo. Claire would exhibit different behaviors, features, and qualities but she never quite fit into any certain category. We’d go to doctor’s appointments and mostly would hear “hmm…that’s interesting. I wonder why she does that…” or “hmm..that’s interesting. I can’t quite pinpoint why she has that…”
Last December we spent a grueling day at the local Children’s Hospital and were visited by a range of specialists (it’s called a CDC – child development clinic – basically a one stop shop for medically complex kiddos). We saw: PT, OT, ST, Neurology, Genetics, Pediatrician, and Orthopedics. It was a beautiful but exhausting day and we were able to visit with all of these specialists in one day, but we still had more questions than answers, and so, her medical team decided to run a gamut of tests:
Brian MRI (her 4th)
LONG story short (because insurance never makes anything easy) we narrowed down a day: May 15th, for all of these to be done. To be quite candid (because I don’t really know any other way to be) my stomach has been in a knot and my mind a little scattered since that day and as we’ve waited for the results.
I have had an internal struggle between wanting to know the results, but also not wanting to know because then I could continue in my ignorance. With ignorance there is some bliss, but more powerfully for me, was the feeling of uncertainty. And the devil…he loves uncertainty because that’s where he builds fear.
Fighting fear, particularly as it pertains to Claire, is an every day battle for me. Some days are easier than others. And some days, the waiting days, are really really hard.
We waited a week to get the brain MRI results, which we were told we could check online through our patient portal. So exactly a week after her MRI, I logged on…only to find out we hadn’t created a patient portal (face palm) and had to wait another grueling seven days for it to be activated. Ugh.
Here’s what happens when I wait:
I get nervous. I go to the bathroom…a lot. I pray. I feel peace. That wears off, and I worry some more. My focus is shot. I keep playing every scenario in my head on what the different results could be and how we will handle the news. I lose sleep. I pray some more. I feel comfort. It wears off and I fall into the same torture chamber of uncertainty. Oh, how the devil loves to get into my head. And I let him. Until I realize that’s stupid and start praying more, which always helps.
After seven more days of waiting, I was finally able to login to her patient portal. My hands were shaking, palms were dripping with sweat, heart pounding, and my body was mostly numb. What would the results show…did I really want to know? Did I really not want to know? Ready or not, it was time to check.
Sure enough, the brain MRI and bone survey results were in and even thought my husband wasn’t home from work yet, I couldn’t stand to wait another second.
Everything on her brain looked stable, Praise God! There are no words that can fully capture the wave of relief that swept over me. Knowing her brain wasn’t showing signs of negative changes or degeneration, I knew I could whatever else was thrown at us.
Her bone survey had the same findings; nothing new. Her bones were age appropriate, mostly proportionate in size, and confirmed that growth hormone (which had been strongly recommended but I had strongly declined) wouldn’t make a difference for her at this point.
All good news – two down, one to go.
We were told that the genetic testing could take 10 – 12 weeks. I was able to shove that thought to the back of my mind for most of the summer, although it still lingered and you never really forget. June and July were filled with the chaos of summer and I kept telling myself “enjoy this time, come August you can start thinking about the results.”
August 1st came, and I began checking my email like a mad woman. Logging in daily with the same feelings as before: anxious, nervous, sweating. Would today be the day the results came? Each time I logged in and we hadn’t gotten anything from her doctors it was a mixture of relief in being able to live in this “ignorance” one more day, but also the dread that I’d have to check again tomorrow. The emotional strain was equally annoying and exhausting.
Each day in August I replayed this game. August 15th marked 12 weeks and when it came and went with no results I knew … they had found something. But what?
September started the same way August did with me checking my email religiously and coming up empty.
I was finally fed up. I told my husband “If we don’t hear anything by September 15th, I’m calling the geneticist.”
Guess what … September 15th … crickets.
All right…fine. I’ll call – ugh. So I called, and of course you can’t get through to anyone on a first call and so I left a voicemail on a Monday afternoon. Tuesday came and went – nothing. Wednesday came and went – nothing. Until I was pulling into the garage after picking the kids up from daycare and I heard my phone ring. I immediately recognized the first three digits of that phone number (because a mom of a medically fragile kid always knows the numbers of the doctors office). My stomach dropped, my heart raced, and I reluctantly, yet excitedly answered the phone.
“Yes, this is Claire’s mom. Yes, I have a moment to talk.”
“We’re sorry it took so long to get back to you. When her results came back, they were so rare that we had to really sit down and figure out what they meant.”
Oh boy. This was going to be interesting. I found somewhere to sit down, not knowing the impact of what she was going to tell me.
She was kind, gentle, and sweet as she patiently filled me in on the results and answered all of my questions as thoroughly as possible. I wanted to know every little detail, but there were two answers that were most important for us:
1. Will this affect her life span?
2. Is this something we could pass along to future children?
2. Not likely (less than a one percent chance).
Almost three and half years of waiting, wondering, and worrying melted away in that moment. Some how, I didn’t cry. I think I was so relieved to finally have those answers (particularly because they were what I wanted to hear). And while we don’t know what her condition all entails, we finally know what it is. We have found the why Claire is … Claire.
In a nutshell here’s what we now know:
She has a very rare gene variant that they believe caused her ACC and consequently the subsequent challenges she faces: low muscle tone, delayed speech, delayed fine and gross motor skills.
There was only one other case study they had found with this gene variant. While Claire and this other girl share some similar qualities, they are more different than alike. So it’s no wonder doctors aren’t able to fit her in this category or that category…she’s all her own and she remains a medical enigma. One of a kind.
Because there isn’t much known yet, there’s no telling what Claire can and cannot do. Some people might find that concerning, but the way we see it, the sky’s the limit and we’ll do whatever we can to provide her with the resources she needs to reach her full potential. We’ve got a long way to go (like…a lifetime); her path will be different, her timeline of achievements likely won’t mirror those of her peers, and she’ll still face many challenges because of her condition. But you better believe we’ll be celebrating every inchstone and milestone when they come.
The outcomes of those test results are the best case scenarios, in our eyes. And for that, I am and will continue to give praise, glory, and thanksgiving to God. For holding us close through the storm, and fulfilling the words I heard in adoration over three years ago:
Your child will be fine.
(fine is such a subjective term…couldn’t God have used something a little more clear… that would have been really helpful the last three years…)
Our sweet Claire…
She’s strong, brave, and resilient. She marches to the beat of her own drum and she really doesn’t care what anyone else thinks. We can’t wait to see the barriers she breaks, the successes she has, and the obstacles she overcomes.
Waiting for results from Claire’s tests always (because this isn’t our first rodeo) tends to fill me with the fear of the unknown. The unknown is a mind game the devil uses as deception to get me to worry and waste my time playing the “what if” game, rather than leaning in to God in receiving his peace. This summer, a new song came on the Christian radio station and I adopted it as my anthem. It put into words what my heart wanted to convey to fight the enemy in his desire to take over my uncertainty. This song is so powerful and empowering that I can rarely get past the first few words before the tears start flowing. I can sing the words with as much zest as Francesca, but it’s really too bad I can’t sound as good as she does …