Bug update

For those of you new to the blog, my son Riley, AKA Bug, has Neurofibromatosis type 1. (Also known as NF1.)

In short, Neurofibromatosis type 1 is a genetic disorder characterized by symptoms such as multiple large cafe au lait spots and axial/inguinal (armpit and groin,) freckling on the skin, tumors (called "fibromas,") on the skin, in the muscles, on the nerves, along the spine, and in the brain, vision problems, macrocephaly, cognitive delays and learning disorders, epilepsy, scoliosis, and fine and gross motor development delays.

It has manifested in Bug in that he has the cafe au lait spots, axial and inguinal freckling, one dermal fibroma (small skin tumor,) speech and motor delays, and macrocephaly, or a large head. Thus far, there have been no vision issues, signs of epilepsy, scoliosis, or severe tumors.

Today we met with his geneticist for his one-year follow-up exam. Over the course of the appointment, we discussed things such as Riley's first fibroma (on his lower back on the right,) his previous brain MRI, the course of treatment thus far, and predicted outcomes for the future.

His brain MRI showed no signs of tumors on the optic nerve (called optic glioma,) only some UBOs (Unidentified Bright Objects,) in his cerebellum, which are nothing to be concerned about and quite normal for a NF1 patient.

Doc said that he was unconcerned with the fibroma, and that there will undoubtedly be more that develop. Most "disfiguring" fibromas (Large ones on the skin, or ones deep within the muscle/running along multiple nerves,) would have already presented by now, so he feels we're "out of the woods" in that regard.

So far the course of treatment is to just sit back and monitor his development as he grows. The disease's progress is relatively chartable with his symptoms right now, as he is a "classic" case. His physician feels that he will definitely gain speech and articulation, but it may take time. (This was something that was great to hear, as his neurologist had left things very wide open, saying that he might speak, he might speak in a limited capacity, or he might never speak. Not very comforting there.) As far as the hypotonia and hyper-extension, that is something that will probably be a lifelong struggle. Having him in OT is a good thing, and letting him ride once a week is even better.

Overall, it was a good visit. It put some fears to rest and clarified a few points that we had been flailing around. (Mainly, "does he need a full-body MRI?" and "Does he really need another MRI in six months?")

I'm especially pleased to hear that there is confidence that he will begin talking. That is something that greatly stresses me out, something that I worry over almost irrationally.

So all in all, a good day!

Well check for Bug

Today was Riley's well-check, NOT March 13th like I originally thought. Oops! That's what confirmation phone calls are for, right?

Anyway, we got away vaccine free (until next year, dun dun dunnnnn...) and I'm happy to report that his growth is off the charts. No more failure to thrive for him!

We mutually agreed, though, that we think he has his first fibroma. It rose up fast and large, and I'll be doing serial photos with scale to see if it keeps growing. He also has a spot on his cheek that we're keeping an eye on.

Because she couldn't determine the nature of the possible fibroma (dermal vs. plexiform,) we're both researching when he needs a full-body MRI, and who refers for that, so that we can check for fibromas on the inside in his muscles, on his nerves, and on his spine.

He has some mild tibial bowing, but nothing that she feels needs to be seen by ortho.

I came home and cried.  I'm not going to lie to you. To have my fear confirmed, to know that the disease is progressing and so must we, is humbling. I thought we'd skate by, just dealing with the learning delays and the minor cosmetic issues.  To know that this is developing into MORE, that there is more room for it to all grow and become worse... well, it's something I already knew, but had been able to bury my head in the sand until today.

Still, though, he remains happy and healthy for the time being, and that's all that matters.  My fears cannot govern our day to day life; instead we must continue on in our pleasant existence and hope for the best.

Neurofibromatosis on national television!

I have to tell you guys, I almost pee'd with the knowledge that the very popular Fox TV show "Bones" was going to be adding scenes that addressed NF!

Show writer Michael Peterson wrote the content in from a very personal place, as his young daughter is also affected by NF.

There is a full interview here, but there was one answer that struck home for me:

As we say in the episode, NF, there is no cure, there is no treatment. We want to not only spread awareness, but we want to find a cure in our daughter’s lifetime. So that’s what we’re dedicated to: first to tell people what it is, and then we want to do whatever is necessary to help people out. So that’s our number one thing. We are blessed to have this opportunity to reach out and tell an audience of 10 million people, “Here’s this thing you may not have heard of.” 

Thank you, Mr. Peterson.  Thank you for spotlighting this common but potentially devastating disease, and raising awareness.

For those in need of an update on Bug: Speech and Occupational therapy are slow going, but we're getting there. Riley has finally mastered walking on his toes (though not walking backwards,) and is gravitating more and more towards silverware and "real" cups and plates.

His vocabulary has expanded already in the three short months we've been working with the therapists, including now being able to say his cousin's name, "Hi," "Bye," and, much to my chagrin, "Bitch" if he hears someone else say it.

His cafe-au-lait spots are growing, and his last MRI confirmed lesions on his brain, but we're not worried.  We have a well-check coming up in March, where I will raise some concerns about mast cell overactivation and the itchies he gets sometimes, as well as the growth of his legs.

All in all, we're progressing forward in a positive way.  Thank you to all of you who continue to follow our journey with NF1. Your support is invaluable, and I promise - I'll post more often!

"This button.  Right here!"

 He's so damn smart.  By the end of the week, he was terrorizing Kinder Major and their cousin, monopolizing the mini John Deere for his own nefarious purposes.

That is where it gets some people.  He doesn't LOOK sick. Most days he isn't.  There are little things that stick out to anyone watching closely, though.  At just a few months shy of his second birthday, he weighs less than his sister did at ten months old.  He is just under the third percentile for height.  His head, however, is charting at a whopping 30%.  See? I told you he's smart.

The newest addition to our cast of misfit characters, we'll call him Pater Pueri, fiercely insists that there is nothing wrong with him, just like he fiercely insists that he is PP's own son, blood be damned.  I love him for many many reasons, but those two may have been what sealed the deal for me all that time ago.

He's not incorrect in that assertion; there is nothing wrong with our son.  Our son seems to be experiencing some... technical difficulties... if you will.

I posted a bit ago about the result of our visit with the genetics team, an appointment that was a year and two months in the making.  There were no definite answers.  That status... remains.  Frustratingly. 

Tonight is no different as frustration goes.  I'm up, feeling unwell myself, and to occupy myself away from my own gastric distress, I sit and play armchair diagnostician, constantly asking myself "Okay, if this is another dead end, where do we go next?  What do we try?  Who do we see?"

My little Bug.  He was conceived under less than stellar circumstances, and he hung with me through my body's silent but bloody coup d'etat, to be delivered unto me purple and surly-faced, leaving me utterly and endlessly smitten.  His young life has been eventful, and will continue to be.  My young life will grow gradually older, striving every minute to do for him what I simultaneously spend every minute doing for his sister: making sure that there is only the shadow of the universe's chaos that could sentence me to watching my little loves whisper away.

Bug update

Today was the long awaited appointment with the genetics team.  We were referred there for suspicious hyperpigmentation concurrent with a neurological disorder called Neurofibromatosis type I.  (NF1 for short.)  Additionally, the possibility of one of the many mutations of Cystic Fibrosis has been on the table for a long time, now.

There are many things that were said during the appointment that I'm sure I'll miss in this note, but here goes.

In regards to the NF1, he has a big head and a small stature.  That, combined with the cafe au lait stains, the gross and fine motor delays, and the speech delay has led the team to conclude that he is definitely diagnosed, with a 75% surety. The blood test for the other 25% is $2k out of pocket.  We're going to take the 75%.  Now, what does this mean for him in the future?  No one knows.  He could develop nodules in his brain, on his spine, on his nerves, in his muscles, on his skin, or in his eyes.  By the same token, he could never exhibit another new symptom.  He may not speak, he may.  He may fall into the autistic spectrum, he may not.  There's a lot of may/may not's with this one.  He goes for a recheck in a year, unless new developments arise.

That out of the way, there is definite concern for his slight stature.  Height and weight fall just under the third percentile for him.  With all of the GI issues and his continued failure to thrive, having the sequencing done for Cystic Fibrosis was a definite.

In regards to just his slight stature, there may have been some malabsorption and malnutrition during the puking/diarrhea times.  In addition to the may/may not's above, his grown may/may not have been stunted, and may/may not even out later.

Overwhelmed? Yes.  But that is where we are.  Love you all, xoxo