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Waiting

September 6, 2013

“A little knowledge is a dangerous thing. So is a lot.”
― Albert Einstein

He looked up at me over his coffee, the steam wisping around his face in the cool morning air. His look was inquisitive, “What are you thinking about?”

He had caught me. I wondered, suddenly, how clearly my thoughts had been etched on my face.
“I’m worried about those tests. I just don’t know…..” my voice trailed off as the tears starting to well, and I looked desperately up to the ceiling of the coffee shop, trying to damn the flow.

He looked back at me gently, and reached for my hand, “Will it change anything? Worrying?”

Of course not, but he knows that’s just not how my mind works. It spins and churns, and maybe I understand just a little too well how quickly the fates can change for a child like Mary. Maybe I have read just a little too much, or met just a few too many families.

So my mind churns, and I just can’t shut it off. The fears swirl, gently at first, fleeting, like the wisps of steam from the coffee. But one thought collides with another, and suddenly the gentle swirl is tumultuous and violent as the fears grow. Then the wondering gets pulled into it, what if it’s not just Mary? What if something is affecting my older two? What then?

But the fears are different from what they were not too long ago. There is a dullness to them, where once their edges were jagged and sharp. Because my baby girl is changing before our eyes. She is picking up more signs, she is communicating with us more each day, in her own way. She is smiling more. She is happy. She is healthy. She is growing. She is here. Today she is here, safe with us.

That was yesterday. Today I sat down with Mary’s neurologist. She had a copy of the test results in her hand. “I just got these, so I’m still looking at them.” She explained that we really need to see the expanded report before we can draw any conclusions about these results. But the paper she was waving in her hand had caught my eye, tantalizing me like a shining reflection might intrigue a kitten. She smiled and explained the genetics counselor had said to tell me they would go over the results with me next Friday at our appointment, and then chuckled that they had to know she just couldn’t do that to me. So together, like two overly excited grad students, we sat down at the computer to pour over the findings.

They found one mutation that might explain some (but it appears not all) of Mary’s symptoms. It is a missense mutation in the ZBTB20 gene. It is a change of just one nucleotide on just one chromosome. And we are still trying to figure out what it might mean. It does appear to be involved with autism, although neither Joyce nor Troy carry this mutation. It appears to somewhat explain the elevated alphafetaprotein levels that led to the initial suspicions about liver cancer and then ataxia telangiectasia. Knockout mice with this gene deleted do show some of the other symptoms Mary has been experiencing as well. But one symptom in particular caught my eye: lethality. They die. The neurologist and I read that sentence at the same time. We both paused on reading that. But taking a deep breath and carefully separating my brain from my heart, I was able to question why their knockout mice included a second deletion – another gene that is apparently not affected in Mary. The doctor was also quick to point out that this knockout mouse was homozygous (meaning two chromosomes affected, instead of one in Mary), and that it was a deletion, not a mutation. We are not sure how the mutation affects the gene. Is the expression simply impaired or altered, or does it turn off the gene altogether, thereby giving essentially the same result as a deletion? And would it make a difference if the genotype is heterozygous or homozygous? Back to the drawing board, with a frightening, but, hopefully, unlikely correlation.

Mary’s doctor then started finding research papers online – everything she could pull related to this gene. Printing them out, she handed me the stack of papers, encouraging me to read them – to be certain that I know more about this particular gene than the genetics team by the time we have our next appointment. She told me I should be prepared to discuss Mary’s case with as much knowledge as possible. She encouraged me to contact the researchers on these papers as well, to see what else they may know. Suddenly, I am grateful for all those long hours spent in the biology labs and late nights with my nose stuck in a genetics book back in college. I may never have the opportunity to use that knowledge professionally now, but at this moment, that training is worth more than gold to me. At the same time, I am grateful to have a doctor working with me, to help me secure the best possible outcome for my girl.

So that’s where we’re at. I’m not at all sure how to feel about it. My mind is racing. I have a lot of reading to do, but I know that this is not the whole story. We have another clue to hunt down, but there is still no road map. There is no clear answer about the anemia or the regressions. There is no clear answer with regards to mitochondrial disease, although I am hopeful that this might steer us away from that path.

One thing I can tell you is this: my girl signed “ice cream” at school yesterday. And earlier this week, she signed for Daddy, Mama, and her brother’s name sign. Mutations, deletions, knockout mice or not, my girl is moving forward. Little by little she beats everyone’s expectations of what her limitations are. So yes, a roadmap would be lovely. For right now, Mary is making her own path at her own pace. My role in this is to make sure that she has all the tools she needs to make the most of her journey. So, if you’ll excuse me, I have some reading to do.

PS – I am open to suggestions or information about all things related to ZBTB20. I know it’s a long shot, but if you have information to share, I’d love to talk to you. Thanks.

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4 Comments leave one →
  1. lynn lachance permalink
    September 6, 2013 9:50 pm

    You were given this unique,special little person for a reason, God never makes mistakes.. medical terms and labels do not include miracles and she is indeed a miracle.. whatever the findings..take 1 day at a time, and don’t waste the joys of today worrying about the what ifs of tomorrow..

  2. rhemashope permalink
    September 7, 2013 1:01 am

    Oh, I hope you find answers and insights. But as you say, she is already making her way with her precious family beside her.
    And I just fell in love with your little girl.

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