Drum Roll Please

Drum Roll Please……
Benjamin’s favorite food is ….
Cheetos! He didn’t waste an ounce of the Cheeto dust today in speech. Who can blame him?! He is not eating them yet, but I think we can all agree, the cheese is the best anyway. 🙂

Drum Roll Please……
It has been a long 17 months of waiting for results of genetic testing. While in the NICU, Benjamin was diagnosed with Myotubular Myopathy after initial muscle biopsy and by presentation, but we needed genetic confirmation. After months and months of negative tests, we were running out of options. Somehow, one test was missed. When I realized it, I immediately asked for it to be run. Benjamin doesn’t look like a typical kid with this genetic mutation, but what about Benjamin is “typical.” 🙂

Four weeks ago, the genetic counselor called us to let us know that the test was not positive or negative, but that they needed to test KC and me for comparison. Yesterday, we received an email stating the results were in, and we needed to schedule an appointment to discuss them. Today at 1pm, our 17 month wait ended on Benjamin’s 17 month birthday. The genetic report for DNM2 came back indeterminate. Why indeterminate and not positive?! Well, to put in easy terms that I think I understand, the mutation that was noted is undocumented, but is located next to the documented cases, all with similar presentations. Because of his muscle biopsy, his presentation, and the location of the mutation, it is pretty clear that Benjamin has Autosomal Dominant DNM2 Centronuclear Myopathy.

Now, what does this mean? Well it doesn’t really change our plan of action. There are very few cases, especially of Benjamin’s severity, that we can use as guidance. To me, this means the sky is the limit.

Drum Roll Please…..
The lab also tested KC and I for the same gene mutation. And….. We are both NEGATIVE. This means the mutated gene was not passed from KC and me, was not passed to Lennon and Isla, and cannot be passed to another little one. For some reason, during initial development, something changed the makeup of this gene for Benjamin, and for Benjamin only.

How rare is it? Rare enough not to really know, but one study noted 19 different variations of the DNM2 gene found in 100 families. 100 documented families in the world!! Everyone thinks their child is “one in million,” but Benjamin wins out at “one in 70 million.” Maybe we should by a lottery ticket. 🙂


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