Tuesday, December 28, 2010

Our last hope

I haven't spoken much about all the tests that were done prior to Grace's discharge from the hospital in August. If you remember, they drew a lot of blood that was then sent off for DNA testing at four different labs across the country. Many of these tests took months to complete.

A few weeks ago we got the final results, everything was normal. So why didn't I say anything you may be asking yourself. Because in this case, no news is not necessarily good news. Meaning her doctors still don't know what caused the Early Myoclonic Epileptic Encephalopathy. And without knowing we're left in the dark.

We've spoken many times over the last few weeks with her Geneticist, our last hope to answers. He's so kind and understanding it makes dealing with this easier. The last time we spoke he said he wanted to confer with some of his colleagues to review her case and see if there were any other tests we could do. After doing so he said there was one last test we could do for something called Ceroid Lipofuscinosis. Unfortunately, they have no more blood for the test. So we're left with the remaining blood from a heal prick they do on newborns that's then sent to the CA Dept. of Public Health's Genetics Screening Program. So today Holly and I submitted a Notarized request to have the remaining sample sent to another lab for testing. It's very disheartening to know there will be no other tests available to us after this. There's still a chance there might be some blood left over at one of the previous DNA labs, but for now this is it.

Of course I Googled Ceroid Lipofuscinosis and from what I could understand saw very few similarities to Grace's onset and condition. So I called the Geneticist back to talk about the differences from what I read to Grace's symptoms. Although he disputed some of the claims about the age of onset, he agreed there were still differences from this condition and what we saw in Grace. But we're grasping at straws here and this is our last hope at finding the root of the EMEE.

So where does this leave us? It leaves us with little hope to knowing what brought on the EMEE. In medical lingo they call that idiopathic. That one word is what makes this so hard to understand and cope with. Not only for our own piece of mind, but also our future. If Grace's condition was brought on by a recessive gene the likelihood of having another child with EMEE is a staggering 1:4. Now those odds can change, but right now that's where we're at. I guess ultimately that's why I haven't written about this, still too much uncertainty. I don't like leaving things vague and without closure.

If the lab can run the test on the heal stick we should get an answer in about a month. But the odds of her having Ceroid Lipofuscinosis are slim. After which time we'll meet with the Geneticist and see where we're at.

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