Leukodystrophy…did I mention?

Dr. Coryell suggested that we don’t read her MRI report because it possibly sounds worse than it actually is. Possibly. And I’m not sure how much worse things could be besides the definite shrinking of her brain due to a near compete loss of white matter. All the sugar in the world couldn’t mask the bitterness of that pill. But I appreciate that he spoke kindly and was trying to be thoughtful. We haven’t received a copy of the report yet anyway.

I think I forgot to explain in my other post that Lydia has some form of leukodystrophy. This narrows things down but there are still 52 different types. Dr. Google defines the leukodystrophies as “a group of rare genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath that insulates nerve cells.” It might not really matter so much which type she as since “all of these disorders are progressive, meaning that they get worse throughout the life of the patient.” And the trickiest part is that leukodystrophy doesn’t exactly explain the early-onset seizures, which is why they weren’t focused on this before.

But we still want to know everything we can. Here is what we know so far:

Metachromatic leukodystrophy – The doctors are not currently concerned that Lydia has this as her features and MRI are not suggestive of this specific condition.

Ok. Just 51 more possibilities to go and that’s where we are at. Gave up on waiting for the whole exome sequence to come back from the Boston Children’s Hospital study. It could still be several years. Now we are pursuing whole exome testing through our insurance and there is the possibility that they will deny us. Kaiser Permanente previously denied us because of our enrollment in the Boston study. Word of advice if anyone ever finds themselves with a magical unicorn being – don’t take the free genetics study.

I wonder if this is all my fault somehow. Irrational but in the back of my mind. Or possibly in the curled up mass of stress-gristle that has become my back.

I worry about how and when to talk to Jack, or when not to. Bedtime story about the turtle that dies and leaves its too-ill body behind so that it can join the universe and send the occasional shooting star to its family on earth…good idea? awful idea? Who can help me?

And what do we do about all the therapy appointments? Worth continuing or a pointless effort? I want to keep her limber so that her muscles don’t spasm. Maybe we should just focus on a home program of massage and stretching. But how? When? Is it even right to give up on the PT, OT, etc?

Am I doing anything right?

I feel half crazy, I really do.

 

 

 

 

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