ambushed by ARX

I pushed for the testing.

From the very beginning I had this drive in my core to find out why. I never asked why. Because...although some may find me naive...I have always believed nothing happens by chance. There is a Purpose already mapped out for my life...for Trevor's. But I needed to know why. What. To track...hunt...and ultimately sleigh the Beast. With meds...with therapies...surgery...or whatever means possible.

Which is precisely why I pushed for the testing. Any testing. Hoping for answers...while trying to come to terms with the possibility of never finding any.

It is also why I called Dr. Genes during Trevor's most recent admission. The red tape is easier to move through while in-patient. She assured us time & time again that the odds of a genetic flaw being our Beast was very slim. But at my insistence she pursued Rett & A-typical Rett...and on a whim added a highly unlikely...excessively rare mutation. ARX.

Randomly over the past few weeks I found emails from Dr. Genes. Happy emails. As anticipated the testing was all coming back negetive.

Except one.

Trevy's studied-at-Baylor-labs came back positive for the highly unlikely...excessively rare...ARX mutation.

The day Dr. Genes called to say she really needed to talk about this in person...I was having a good day. I was feeling strong...and courageous. In fact, I told her as much...

Just lay it on me...

I said

I'm in a good place right now & I promise not to go crazy mom on you. I can handle it.

The gravity of what this could mean for us has slowly been building on my heart since I laid the receiver back down. Although I'm trying to keep myself in check. The information out there about ARX is very limited. Very sad. Breath-takingly sad. But limited. In fact...so limited that Trevor is the first person in the world known with this specific ARX mutation. At this point...anything is possible. We really have no other stories with which to compare notes. Maybe Trevy will be a happy ending...for another family learning that their son has a very rare...highly unlikey gene mutation. Like most things IS related...only time will tell...

Dr. Genes wants to speak in person tomorrow. With Toby in tow. To have his DNA harvested & sent for Baylor study. Ordinarily it would be a scary thought. Finding out if my both of my sons have a mutation. But in this instance...if Toby is positive as well...that means it's BENIGN! Just an ironic family trait. And not our Beast after all.

Dr. Genes prepared my heart that the chances of Toby having the mutation are slim. But she's said that before...about Trevy. God...I hope she's wrong again.


JSmith5780 said...

To know or not to know??

This is always the hardest. Like you I always want answers. Unfortunately, with science, especially genetics, answers generally lead to more questions. As you have found out.

Even if Toby doesn't have the same mutation, this isn't necessarily earth shattering. Trev is Trev. His future isn't yet charted. Science changes daily. Let Trev lead you where he may. Never give up hope.

I have finally stopped obsessing over Austin's unknown TS mutation because I just feel it'll drive me crazy.

Good luck tomorrow. We'll be thinking of you.

Did you contact Dream Mom? I have followed Dear Son's story for years. Dream Mom is the most amazing, compassionate woman. Any parent of an SN child could learn a ton from her.


Molli Salzman said...

Here's to hoping Toby does NOT have the mutation. And like you said, if this is the only one, you do not know what to expect. Which can drive you crazy and be good--all at the same time. With IS, you hear that the chances are slim for a total recovery, so that is always weighing heavy on my mind, at least.

Take care,

labonte4 said...

So, I've come to realize, genetic tests really do leave more questions than answers in some circumstances.

My Neuro warned me of this....but I really just want an YES or NO. It IS or it ISN'T.

More than anything, I hope these genetic tests can lead us to making more informed decisions about treatment.

None the less, they're scary....and full of uncertainty. I'm right there with you.

baby trevor's mommy said...

Jen...nothin' easy about IS! But I don't regret moving forward with the testing. I know it sounds pious...but I don't just want answers for us...I want them for others. I want to contribute so that other families don't have to live through this the same way we do. I did find Dream Mom...and she is amazing. Wow. I'll be spending time with her blog in the days to come... In the meantime...I'm trying not to let the new questions drive me batty. And letting Trevor lead! (((hugs))) btw...I was SO tempted to call you yesterday. But ended up not...just because I knew I'd blubber! *smile*

Molli...thanks sweetie! Squeeze your beautiful little man for me!

B...good grief! I saw your yahoo post today and couldn't believe we're living the same (differently) genetic game! And then I felt guilty...for ever encouraging you to move forward with it! We can worry together...and keep eachother grounded that really it's all okay anyway! which btw...my mom said she'll keep the kids so I can meet you for coffee sometime? Anyway...I'll see you next weekend


Adesta said...

Danielle, I'm not sure whether it will be a good thing if Toby has this mutated gene too or not, so I'm not exactly sure what to say.

But I do agree with Jen, let Trevy lead the way. And don't forget, he was doin ok for a while with the ACTH. I pray that Vigabatrin will be his miracle drug and get him to the SF point.

I'll be thinking of you all tomorrow while you meet with Dr. Genes! {HUGS}

JSmith5780 said...

B- I am SO SORRY you are going through this too right now!! I just saw your email on the IS group!

D- while I "get" the wanting to know for others, realize you may just hit more brick walls. I don't say this to discourage you, but to "warn" you. This is why I finally gave up.

Shanna and I are kind of in the same spot. Kay has a mutation on her TSC1 and Austin has one on his TSC2. Both are unknown mutations. (Kay's neuro did give her a TS diagnosis though and Austin's would not) I have done battle back and forth with the TS Alliance, the neuros and our Dr Genes. Everyone refuses to give it any credence whatsoever (for two reasons, Austin has no other signs aside from IS, possible ADHD and one brain lesion and because Jeff has the same mutation with no signs other than migraines). Part of me wants to believe that yes there are hundreds of thousands of innocent mutations that mean nothing, BUT, once you have a supposedly random mutation on a gene that you KNOW can cause problems, to me it's no longer random. BUT, I am not a geneticist and what do I know.

This is just my experience. I hope yours and B's is more enlightening!

And know that you can call me anytime... blubbering or not. I would have HAPPILY stopped painting to talk to you.

P.S. good luck on the house offer!

~Mama Skates~ said...

wow, i have to admit that i think i get a little more confused with each post....it's such a crazy mixed up world - that seizure one u guys r living in! i'm so sorry hun....i hope that u get more answers soon - i know the waiting has got to b killing u! as always, i'm here if u need me! praying HARD for u and shanna - u guys are sooooo stinkin' brave!


Monica, James, Connor McGuire said...

I know you told me about this the other day, but I just still don't really know what to say. Except for that you are in my prayers, and I pray that is is just some fluky little benign glitch in his coding that never causes more trouble than the IS. We are looking at that one last genetic test that I was telling you about. If they have already done it...then we are done with the genetic testing. Just in my gut I don't feel that Connor's is genetic. I wish I knew the stupid cause, but I don't really feel it is genetics. You know I'm here if you need to talk. Give Trevor an extra squeeze tonight from me and his bud Connor. Oh give Bristel one too, just because I think she is so precious.

Reagan Leigh said...

Just a quick suggestion. Why not retest Trevor? These technicians running these extremely important tests are not rocket scientists and certainly not foolproof. I say this because Reagan's geneticist thought she had an extremely rare disorder (only 5 cases ever) that involves the breaking down of sugars. They found very high levels in her urine (twice). So then they took blood, urine, and spinal fluid and sent it overseas to the experts in the field and it came back totally normal. Sometimes it's just best to have a backup plan. They may think they have it right but they could be totally off. If it sounds like a horse and looks like a horse, it's probably not a zebra. Just a suggestion.

KC's Mama said...

Wow. As if you didn't have enough to contemplate right now! I did google the ARX mutation and ended up on Dream Mom's page as well : ) Best of luck tomorrow with Toby's test. Sending lots of prayers your way.


baby trevor's mommy said...

Jen...I know you're right. I'll drive myself nuts trying to figure things out...when the fact is there are always breakthrough cases. And even if there were it doesn't mean that Trevor's future is the same. I'll try to glean some of your been-there-done-that wisdom! *smile*

Sharon...thanks sweetie! Honestly...I'm not that brave. I'm a big chicken! Ugh!

Monica...Bristel ADORES Connor! As do I! I hope it's a glitch too! Actually I was thinking in church tonight...that my brother has severe GI issues? And ARX is linked to GI issues...sooooo We'll see. Whatever happens I know everything's going to be okay. Plus...I've got you guys here lovin' on me. It helps!

Tera...the first question I asked our Geneticist was that they wouldn't give us a dx like this w/o double checking. And she assured me there are checks & balances. Of course there's always the possiblity that it's a fluke. Although ARX mutations have a strong link to IS. I probably should relax. But tonight I just don't have the strength. And with all that I have to celebrate in Trevor...I'm still a mommy with a baby battling IS. And sometimes that shakes me to my core in spite of his success.

Karen...Dream Mom is amazing!


Sophie's Story by Elaine said...

Wow...I don't know what to say. Things just keep piling up for you. And to get this news just when you were back to having a good day...ugh! I am hoping and praying that this turns out to be nothing. Poor Toby having to get poked...I know Haley would FREAK OUT if I told her she had to do that...but he seems like a brave little man. I will be thinking about you all tomorrow.

Mmmmaaahvelous said...

Wow...sometimes it just keeps coming doesn't it? And yes, I am in agreement that genetics is a mixed bag of info....it gives answers and clouds them at the same time. We're praying for the best answers for Trevor and your family!
Clinical Genetics was one of our most interesting, confusing and also mainstream appointments. Very gray and very black & white at the same time. Is that possible? We still have a lot of testing to go through for W, B and me, but we need to know as much as possible so that when the boys are older they can make decisions about their lives & also for my bro-in-law who hasn't yet started a family.
Today I was just reading about a little guy who has TSC and it was the Vigabatrin for his seizures and it worked wonders for him...seizure free for years! So, here's hoping it'll do the same for Trevor!
As always, my thoughts are with you and your family,

Shanna Grimes said...

I just realized I had never commented on this, I know OCD, trying to comment on all posts ;)

Do you know anything further about this yet? I just went back through your posts just to make sure I hadn't missed an update.