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Forget Wolverine. Lion Power is Where It's At.

Well, we all knew he was special.
A funky eye-clashing genetically modified flower in a bed of earthy wild posies...

But aren't they all special? All the flowers and kids... I'm always in a hurry to respond this way, because there are many days when I don't want him be special. I just want a regular snotty bratty boy who doesn't give me daily gray hair or cold sweats. That's not reality though. Even those regular snotty bratty boys give their mum's gray hair and hot flashes. That is reality....
Bringing children into this world; giving them life and then helping to keep them alive, raising them in a proper and aware manner, remembering them always in your heart, is the reality and the work of parenthood. Unfortunately, something that should seem to natural and flowing on paper, is a whole different story in actuality and practice. 
Why is is so hard!!! I wail to Justin on a daily basis, or at least monthly, depending on my hormonal state. Why, gosh darn it, why??
Where is the flow? How come the 'flow' more often resembles quick sand, or a VT mud season? Just when you think you may have the handle on this walking thing, you realize your shoe is now three feet under and five feet behind you. Ick.
So it's easy to blame my mud bogged feet on my luck, just like it easy to blame my nervous breakdown last week on my luck in getting a special kid.
By the way ladies, contrary to popular thought,  self medicating like this is NOT THE BEST EVER method of dealing with nervous breakdown, although it maybe tempting...resist....you can do it.
Leo's new special thing the last month was also what I was blaming for my shaking hands and eye twitch. He started doing this thing where his face would flush, eyes get bloodshot, he would vomit, and then pass out. By passing out I mean fall asleep for several minutes, not loose consciousness exactly.
Anyway, not fun right? More like major weirdness...
Within a half an hour of this, he would come out of it and seem back to normal. 
So scratching our heads we went to his neurologist yesterday with a whole list of questions in hand, ready to force, blackmail, and or coerce his doc to dig deep into the mystery and specialness (I'm starting to hate that world by the way) that is Leo. 
As it turns out, Leo's doctor is a saint from heaven. What an incredible person! Instead of me having to hog-tie him to his spinny chair to get some of his time, he spent almost two hours, two hours here folks, voluntarily digging through all of Leo's files and answering my dumbest question.
Ummm. Wowsers!!!
I finally had to drag myself away because I was going to be late to pick up Nika from school. 
So here is the low-down from this rockin meeting:
In our doc's opinion, though these new events may be a new kind of aborted seizure, which may start deep and stop in his brain before spreading to his limbs, he thinks it is more likely to be migraines!
Migraines!! What the wha?
Apparently this is how migraines typically present in two and three year olds. 
Leo is more likely to have migraines and headaches because of his malformed brain and his hydro, and also because of all the reconstruction and surgery that was done to his pure abused noggin.

Even Sleep Sheep was horrified. (And it takes a lot to rattle Sleep Sheep.)
Apparently one of Leo's anti-convulsant meds can also be prescribed for migraines, so perhaps there is another perk to it that he can benefit from. The fact that all these migraine events happened at the same time, "in the low trough" as they say of his med coverage, supports the theory. Even though the doc gave us the option of trying him with a new additional drug for migraines, he dropped that idea pretty fast after seeing the panic in my face at the thought of yet another med to keep track of and put into my little guy's body. Not cool. So we will try parsing out his dosage a little more throughout the day of his regular med to keep the troughs from being so drastic. Hopefully that extra bit will help keep him from having these dramatic migraines, and free him up for more play time...and bath time...and eating time...all his daily favs.



The other bit of news was the very tardy results of a involved gene test we did almost a year ago.
This test is called the XLID gene panel and it checks almost a hundred different gene pairings. Out of all those he had only one mutation. And this variant is, of course, is of unknown clinical significance.


But they do know that the mutation may have come from me, and my side of the family. (There's a blow. I mean I knew we were weird. But like a family friend described my fam: we are weird and wonderful. I guess I always ignored the weird part and just focused on the wonderful...)
Here is the definition of this type of mutation inheritance:
A mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males who are hemizygous for the gene mutation (i.e., they have only one X chromosome) and in females who are homozygous for the gene mutation (i.e., they have a copy of the gene mutation on each of their two X chromosomes). Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation can lead to varying degrees of clinical expression in carrier females
Definition from: GeneReviewsThis link leads to a site outside Genetics Home Reference. from the University of Washington and the National Center for Biotechnology Information

So other then it sounding like a bunch of blah, either I passed Leo some kind of screw up gene, or it just took its own initiative and mutated in Leo man as a fetus. 
The gene that went on rogue in little man is called the proteolipid protein gene. 

"The PLP1 gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the brain and spinal cord (central nervous system) and are the main proteins found in myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. DM20 is primarily involved in the formation of myelin before birth, while proteolipid protein 1 is the predominant protein after birth."

So there you go. Even though in his case, the mutation's pathogenicity is unknown, all his trouble started in utero in his spinal cord and brain......get my drift??

The plot thickens, and though we still don't know what exactly happened to make Leo special we do know for sure that he is one of a kind. Literally. 
He is an X-man with Lion powers. 
I like that way better then "special."

Thanks to this development, I'm next on the docket for a blood draw and if the test shows the same gene variant, then even more sure then the 99% of now, Leo is going to safely stay the only baby of this little family. 



Even though I never asked for any of this, never even could have imagined it in my wildest dream ravings, it's my reality. Mine, Justin's, Nika's, and Leo's. This is our life. This is us. And it will be ok. 
It will all come round right as it has for us, over and over. Always.




Comments

  1. You are a strong wonderful mama, Anna. Our prayers are with you as always. Leo is such a beautiful little guy (and Nika is growing into such a stunning little lady!). Good for you for getting the tests done. I bet just knowing *something* helps relieve some of the constant wondering you must go through. We hope you have an "uneventful" and blessed Nativity! Much love, Sophia

    ReplyDelete
  2. More power to you Anna. You are strong, and you are a writer! This life-story is so powerful that I'm sure many people would want to read it. It could be semi-fictional, and maybe involve other characters... the title has to involve... LION-MAN. Our love to you, Justin, and your whole family.

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