the great answer hunt in the land of Infantile Spasms

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 whole ARX 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. Typical...at 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 eyes...click my heels and chant with Jesus all will be well. It could be I'm lesser sanctified? Although to be fair...it'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 moments...my 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 ago...an IS daddy friend emailed me a link to a new Infantile Spasms study he'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 way...it'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...

Click here to 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. Neuro...so 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?


JSmith5780 said...

I don't believe in coincidences either. Austin has an unknown TSC2 mutation that has never been seen before. I am still convinced that it means something. Insurance wouldn't pay to test the twins though. This mutation will haunt me because I don't know what it means and if Ben and Connor have it and if I need to worry about their offspring.

This study looks fabulous. I might enroll Austin. It's hard though because his medical records are scattered and I don't know when hypps first appeared. I know it wasn't until 5 months into our journey that Boston discovered it, but had Albany missed it previously?? Who knows!

baby trevor's mommy said...

Funny you should mention that Jen...cause I literally just emailed the lead investigator with a close twin to that concern question. He musta been sitting at his computer...because he emailed back ASAP.

He said while in a perfect world they would like to have that first EEG (preferable video)...they understand that many families will have scenerios like yours. And they are open to getting any EEGs with hyps. So...if you choose to enroll Austin...I think they would be satisfied with the Boston EEG. And maybe get his first EEG from Albany just as an extra element of data?

My interest was a little peaked with the EPGN project. But I hated that some families were excluded. I don't think we have enough information to already be excluding. And that's what I LOVE about this project. That...and the fact that my communication thus far has been very fluid!




JSmith5780 said...

Getting close to 2500.... only a dozen or so comments to go :)

~Mama Skates~ said...

wow, how cool is it 2 b a part of something like that?! i hope their research yields HUGE results & discoveries!

Sinead said...

We are in the EPGP already but I'll probably enroll in this too.

baby trevor's mommy said...

Jen...can't you rig the results for me? ;)

Sharon...for me being a part of things like this are a huge coping mechanism. To feel like I'm benefiting future families...and possibly even Trevy. It's nice.

Sinead...I never did get around to signing up for the EPGP. Partly because the closest location to me is four hours away. I like that this project...while it involves work on our part...is MUCH easier & wide open. I hope you do enroll!


Anonymous said...

I never did sign up for the EPGP study, even though I plannned to. This forced me to at least start the process.

Erin M.

JSmith5780 said...

Hey you got the LinkedIn thingy working.

What have you done to my blog readers?!?!?

baby trevor's mommy said...

Erin...this study seems MUCH more user friendly. Besides now that you've confessed...we'll all be on your case! ;)



MJStump said...

Thanks so much for your post! We are definitely going to sign up...it would be nice to know where this came from and how to treat it, prevent it, get rid of it.

You are so right about how things become a blur with the more research you do. Everything that I think I get just turns to mush when all the new things I find are piled on top.

Hugs and prayers,

KC's Mama said...

I am SO in. I am going to start the round of calls tomorrow to gather the needed test results. KC has a duplication on his 11th chromosome and I can't help but wonder how it's connected to his IS and other issues, so who knows? Maybe we will get some answers. Plus, KC's case is so atypical in so many ways that I feel like it might add some good data for the IS community (and future IS families). Thank you so much for sharing this info!


BTW...I never did the EPGP either because they needed both parents info and KC's dad has been history since long before IS. I felt so cheated when I could not participate in that so this makes me feel really good, like I can actually do something.

Shanna Grimes said...

Thanks for the post. I will look in to enrolling Kay as we are in a similar boat as Jen, but our fam history shows more potential for the TSC dx to hold water. Kay also has a unique mutation that is not with the TSC 1 or 2 gene, which they believe is the underlying cause. She, other than the sz's, shows no other signs of TSC.

Yes, we also are concerned what will happen to any future grandchildren, especially since we have been blessed with the "autism gene" (though they are not exactly sure if there is one) as well. Thankfully, I am only capable of worrying about so many things at a time, so I have decided to shelf that worry until we need to worry about it. Hopefully we have a LONG LONG time before we become grandparents :) LOL

Shanna Grimes said...

BTW...I did actually sign Kay up for the EPGP, but we were denied based on the strong possibility of TSC. We went back and forth with one of the nurses for a while, but she was ultimately disqualified. Closest one was 9 hours away in San Francisco, so it would have been a fortune for all of us to go anyway.

Mrs. M said...

Great find on the study!
I get the fear and worry of genetics and what the future may bring.
We have had all our genetic testing done (all that the Health Region will allow re: budgets & additional testing will be sent to the US and is expensive)...and I have been avoiding our Clinical Genetics team. Part of me doesn't want to know...doesn't want the worry...yet. One day I'll be brave enough to make the appt. Until then, I've got the ostrich complex going strong.