The next step

I got an interesting phone call from the genetic counselor Friday and through Teenie Bird's screaming "Mama, mama, MAMA!" I learned the geneticist had finally received my medical records from my own pediatrician from when I was a child.

I ended up hiding from Teenie Bird at the top of the stairs (there's a tragic irony in there, I know, that I hide where my child physically cannot follow) in order to have an intelligible conversation on the phone.

You may or may not recall, that we were waiting for the geneticist to receive my medical records from my pediatrician from when I had my muscle biopsy when I was 11. The muscle biopsy was to determine if I was positive for Malignant Hypothermia (MH), which we now know was positive.

The pediatrician sent on the test results from their file to the geneticist and he reviewed them. He was hoping to find that the doctors in 1993, who performed the biopsy, had taken the test one step further to look at what strain of MH I might have. The doctors could have placed my muscle under a microscope and looked at it more closely, instead they merely placed the small piece of muscle in a bath of calcium to see if it contracted. If my muscle contracted, then I was positive for MH.

Interestingly, the genetic counselor told me that only in recent years have geneticists and doctors identified the particular genes attributed to MH, in particular, the RYR1 gene. So, although my medical records did not provide the geneticist with that information, it was helpful for them to see my diagnosis in black and white through the documentation.

The genetic counselor and the geneticist feel strongly the next step in this process of determining what might be wrong with Teenie Bird is to see if what she has, actually came from within me and my form of MH.

I don't know if I've fully come to terms with that yet. All along I'd thought what she had was something entirely different, that it was completely alien to us and our family. In an odd way, I suppose, my brain had reconciled itself with the thought that somehow this child had seemingly been "preyed" upon by a condition we knew nothing about.

Now it seems she may have been afflicted by something I passed on to her all along. After everything she's been through, witnessing her screams and tears through physical therapy, her eating difficulties- throwing up, gagging, spitting food out, the countless times she's fallen down or struggled to get up with her ankle braces, and possibly worst of all, seeing the marked differences in her, compared to other children, makes me cry to think that I, completely ignorant to it all, still played a role in the troubles she's had.

As if the fates just had to prove Teenie Bird is in fact different, I had yet another mother, who I do not know, point out to me at playgroup recently how small Teenie Bird is, at least in comparison to her own child, Gracie, who's probably around 13 to 15 months of age. Gracie is nearly as tall as Teenie Bird, and once again I see how much more solidly built other children are in comparison to my own. I haven't yet found the ability of appropriately responding to people who ask this about our child; I always stumble through the delivery.

"How old is she?" she asked me. I looked at Teenie Bird and smiled. "26 months," I said. "So, just over 2 years old."

"26 months!" she seemed surprised. "YOU'RE 2 years old? But you're so small!" she said, looking down at Teenie Bird. "I mean Gracie is almost as tall as her!" She noted Teenie Bird's good language skills and how much she talks, as well as how much hair she has (though, admittedly, the child has always had a lot of hair), and didn't seem to be able to reconcile those factors with her small size.

"Yeah," I said. "Actually, um, we're in the process of going to doctors right now. She has a genetic disorder that seems to prevent her from growing."

The mother looked at me and her eyes widened, like, as if to say, 'Oh, crap, I just made a Mother's faux pas', and sort of just wandered away with her own child to another part of the playroom. It's all right, I suppose, and I'm sort of used to it by now, but it hasn't stopped piercing my heart, just a little bit, when someone else notices her differences. As I type this, I think, 'You should feel blessed, you should feel so lucky, she could be in a wheelchair, or worse', but I don't think it matters what you think, when you come right down to it, all mothers really want is for their children to be some form of "normal". Yes, I think most parents want their children to be standouts from the crowd, we want them to be different, but only in relation to being artistic, or interesting, or abnormally smart. Not in relation to whose been to see a neurologist and a geneticist, and who hasn't.

The genetic counselor concluded that the next step in the process is for me to have a genetic test done, to see if I have this RYR1 gene, and, in particular, if there's a mutation in that gene. If there is a mutation in the gene, then it is more than likely that Teenie Bird also has this mutation and is at risk for the MH related issues, which could be what we've been seeing in her all along.

If I have this RYR1 gene it also means all the many little children in my extended family, who could have MH, only need to have a blood test to determine if they too could have this condition, as opposed to having a muscle biopsy, like I did. Like a stone thrown into a pond, nothing stops the ripples, they only continue to spread.

The second step in the process, after my blood test, would be for Teenie Bird to have this same test to study if she has the RYR1 gene as well. In a few weeks, she and I will make another trip up north to the hospital. By that time, Gramma and Papa will be in town, and Gramma can make the trip with me to the hospital for my own blood test, while Papa and Teenie Bird have some good ol' fashion fun together.

It's bittersweet, isn't it, when you realize that you yourself were the missing puzzle piece all along?