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.
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.
Comments
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.
HUGS
Take care,
Molli
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.
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
...danielle
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}
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!
xoxox,
sharon
Karen
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!
...danielle
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,
M
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.