Mike's project at work has been going well, he tells me each night when he comes home. And then one day he comes home and says, actually - it's going REALLY well. They want him to deploy and continue the project in Afghanistan. As soon as possible. How quickly can they get him there? In a couple weeks, if they can figure out the logistics fast enough. A month or two if it takes longer than they'd like to get the orders in place. Be prepared to go soon. It's a relatively short deployment, likely two months. We can handle that.
But then we remember. The CHOP appointment. I can do a lot of things. I'm independent. I'm strong. I can handle a deployment.
I canNOT do that appointment on my own. I can't hear the news of OUR daughter's fate without him there.
So I frantically contact CHOP. Please. I need him there. Help us... is there a way?
We'll do our best. We'll try. We want him here for the results too. We'll be in touch.
Yes. We did it, we have the results. Your new appointment is August 3rd... NEXT week.
And, by the way, when you're here, we're going to need you to see an immunologist too.
Huh?? Okay...
I spend the next few days Googling everything I can think of related to white matter disorders and immunology. There are a lot of explanations and I know it's fruitless to search for answers until they tell me the results on Thursday, but still, searching is SOMETHING. It gives me a feeling of control to research and contemplate my personal theories. I talk them in circles while Mike dutifully listens and agrees to each possibility. To pass the time until an appointment we waited six long months for, and is now suddenly and imminently upon us.
And then Thursday arrives. Adelyn is up at midnight. Our alarms are set for 3 am. Not much sleep, but we both bounce out of bed alert and ready to go when the alarm goes off. Nervous chatter in the car. Breakfast when we arrive. My heart is pounding, my stomach aching, but I somehow manage to eat. We walk out of the cafeteria and head to the 6th floor where the Leukodystrophy Center is located. I burst into tears on the elevator. "Already??" Mike teases and then whispers to Adelyn, "Daddy's nervous too, he's just better at hiding it than Mommy," with a laugh and a kiss to her sweet forehead.
We check in at 7:30 and are put in an exam room. Our appointment is at 8, and every minute ticks by so slowly. 8:01. 8:02. God, where are they?? 8:23, 8:24. I'm practically holding my breath. The doorknob turns, and the three familiar and friendly faces of the neurologist, genetic counselor, and nurse walk in, and I exhale. Whatever it is, whatever they say, our baby is our baby and nothing has changed. Nothing but our knowledge; SHE is exactly who she was when we walked in that door, and that doesn't change no matter what they tell us.
Our results, though, are surprising and more than a little unusual.
They found a genetic mutation on the LYST gene that is *sometimes* connected to a disorder of the immune system called Chediak-Higashi Syndrome (hence our appointment with immunology). This disorder acts in many ways like a cancer, and does not present itself until teenage years or even adulthood. There is treatment, and if Adelyn does in fact have this disorder, early intervention could be lifesaving. This is in no way related to her white matter or current symptoms, but rather a hidden blessing in her genome sequencing that we could have otherwise failed to identify until too late when she got older and sick. Adelyn is having blood work done and we will know in about a month or two if she has this disorder.
They did not, however, find ANY genetic mutations related to known leukodystrophy types. Praise God! This is amazing news. It is still possible that she has an unknown leukodystrophy and the only way we will know that now is by watching whether her white matter in MRIs improves (not leukodystrophy) or worsens (leukodystrophy). But to NOT find something is the best possible news, the best possible HOPE we could have been given. Her odds of having leukodystrophy just dropped significantly - by 90% or more. Chances are in her favor of the brain damage being something else altogether (one likely example would be a virus while I was pregnant). We have an MRI scheduled at the end of this month to see how her brain is developing, and will continue to have them periodically over the next several years.
My heart swelled so big it filled my chest and throat and then the tears started flowing freely again. They handed me a tissue box and the neurologist, with her calm and reassuring demeanor, attempted to explain again, "This is GOOD news. I know we didn't find the reason for her symptoms yet, but we consider this to be very, very good, and I promise we'll keep searching for answers for you."
I shook my head, and then nodded. I swallowed and tried to find my voice, because what I needed to say was important. "I know," I croaked out, "I know it's good and that's not why I'm crying. I'm crying because I am so grateful to you. For what you do. We are so, so appreciative to you. Your expertise, your knowledge, your passion for this field so that you can help families like us." The words sounded so silly and far too insignificant in my ears as they came out. How can I convey to this woman the magnitude of what I feel for her? To her, we are one of hundreds of patients she sees. I know she cares because she is passionate about her specialty, but nonetheless, we are one of many. But to us - and I know to all the other families who see her - she is everything. I joked to Mike later that what I really wanted to do was whisper "I love you" to her, but she might have gotten a restraining order.
Instead, I let the words I had already said suffice as she smiled and continued on. I'm not sure if she knows how much she means to her patients. I hope so, but the words don't exist for gratitude of this depth.
For now, we move forward with a sense of relief and renewed optimism. If you are continuing to pray for us, we'd love to request these prayers:
~Pray for Adelyn to continue to make developmental progress
~Pray for positive results from her MRI at the end of this month
~Say a prayer of thanks for Adelyn's team of expert specialists, specifically Dr. Adeline Vanderver
I shall not die,
But live and declare the works of the Lord
--Psalm 118:17
Hallelujah! Hallelujah! Praise God, Hallelujah!
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