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the great answer hunt in the land of Infantile Spasms

Posted Oct 04 2009 11:13pm
If I've said it once...

I've thought it a million times more.

How it's like the more I research...and discover...about IS. The more blurry everything becomes. For every answer found. A dozen questions are unearthed.

Remember our wholeARX saga? Yeah...that threw me for a loop.

So much so...that I never went on to post the end of the story. Thus far...

See...the unbelievable in the world of genes happened. Because this is IS-ville after all.

After Dr. Genes sampled Trevy's ARX gene on a whim...a whim which revealed an unkown (meaning the first time this specific change was found) mild mutation...she proceeded to send Toby's blood off to mad scientist central. With assurances that this was totally unnecessary. She was convinced that Trevor's ARX mutation was the underlying cause of his Infantile Spasms. And that Typical Toby...would prove to be just that. least in all areas mutate-able.

And yet...Toby's ARX blood sample revealed THE SAME MILD CHANGE as his seizure saturated brother. And suddenly the underlying cause theory was rocked.

Dr. Genes was more astonished than I. Probably because her brain digests more readily all things gene-ish. Right over my head...that junk flies. But I did get one thing. This gene is wildly misunderstood. And now...Bristel's (because girls are the carriers) future children could be...

Well... you know...

Call me selfish. Or pick an adjective that suits your fancy. Or just be honest and admit that you'd feel the same. I hate that I not only have to worry (because remember - that's what mommies do) about Trevor. But now my plate is piled high with worry about Bristel too. And when will the time be right for me to send her blood to be studied. Because if she is a carrier. She deserves to know. Even if science can't fully provide her with what that might mean. Before moving forward into mommy-hood.

I do believe in God. And Psalm 139. Deeply. I don't believe in coincidence. Or that Trevy is a mistake. I have faith. Although at times by a thread. But even in my stronger moments...I do not believe that I should flippantly dismiss this information. Forget it ever happened. Close my my heels and chant with Jesus all will be well. It could be I'm lesser sanctified? Although to be's not like I'm mulling every day about her future. She is only four after all. But sometimes...when I'm watching her laugh & play. Sunlight streaking her unruly hair. Making her eyes blue pools of happiness. It'll sneak up on me. That I blinked. And now she's four. Going on 24. And in those mind will wonder about what her wildly misunderstood future may hold. And I do what mommies do. Worry. Sometimes...


This post does actually have a point. In case I'm on the verge of losing you!


A couple days IS daddy friend emailed me a link to a newInfantile Spasms studyhe'd come across. As I read over the goals of the study...I couldn't help my heart. She started beating with renewed Hope. I'm such a sucker for The Hunt. I crave answers.

If you're an IS parent read an excerpt for yourself. And see if you're not fighting the urge to sign your lil' IS hero up right this minute too!

" What is the Infantile Spasms Registry & Genetic Studies?

This is a research project by a group of doctors who wish to collect as much information as possible about the causes, treatments, and outcomes of infantile spasms. Our goal is to improve the care for children with infantile spasms. By studying large numbers of children with this disorder we hope to make much-needed progress in treatment. We ask you to join us, to help understand more about children with infantile spasms, discover the genetic causes of the condition, and develop better treatment. "

If you like that...I think might like this too? Perhaps even more...

"What do we need to learn about infantile spasms?

We need to learn a lot. Some of the important things we do not yet understand about infantile spasms include:

1. Which anti-seizure medicines are most effective in stopping spasms?
2. Why do some babies respond to ACTH and others do not?
3. How important is it to follow changes in the baby's brain wave (EEG) during treatment?
4. Are there genetic tests that can help doctors decide which anti-seizure medicine to use first?
5. Why do some babies with specific genetic syndromes (i.e. Down Syndrome) develop infantile spasms, and others do not?
6. What other genetic causes are there for infantile spasms?

There are many other important questions to be asked. But this is a starting point."

Some of these very questions haunt my hungry for answers heart. But before I was ready to fully commit. Because in a's like giving them a piece of Trevor. And the selfish in me...wasn't comfortable with doing so. Unless. Unless...the information this team of doctors discovers will be shared. With us. The families donating our children's complex medical history to be studied. Albeit for good cause. But I'm just selfish like that.

So I emailed the lead investigator. And asked.

And later that same day he responded. I was impressed. And...relieved to be assured that they will indeed keep the families that join this study in the loop. As much as possible. Although he made sure to emphasize that this is not something that will yield results overnight. I was already okay with that. I mean...we've got awhile before she's ready. To be a mommy. Because she is only four after all.

They are hoping to enroll 200 children into this study. Well...199 if we're counting Trevy...

Clickhereto learn more for yourself. I was immediately captivated by how well presented the project is.

And I'm asking...if you like what you read:

  • Enroll your child

  • Tell your Dr. she/he can inform other IS families in their clinic who may be interested as well

  • Share the link with other IS families you're connected with who may not be aware of this project

  • Post it to your website if you have one

Whaddya say? Am I the only sappy we-can-change-the-future girl out there?

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