Neurofibromatosis and All That "Could Be"

Even though this blog is kind of new I have actually been blogging for years, particularly in the past couple of years when I was blessed and surprised by two baby boys.  Yet there is a subject that I never really have mentioned or addressed before because (quite honestly) I was hoping it wouldn't really affect us.  It is something I have been putting on the back burner, but a few weeks ago I got a wake up call that maybe I can't put it on the back burner anymore.

My husband and both of my sons with him have a genetic condition called Neurofibromatosis (Type 1) .  When people talk about it they usually say "NF" for short.

 

The easiest way to define the disorder (short definition) is "a condition that causes tumors to grow on nerve tissue, producing skin and bone abnormalities."  There is a broad range of things that "could" happen such as:

• seizures
• headaches
• brain tumors
• brain blood vessel defects
• learning disabilities
• mental retardation
• macrophely – oversized head
• optic glioma (tumor of the nerve)
• Lisch nodules (benign pigmented tumors in the iris)
• speech impairments
• high blood pressure
• freckling (where skin meets skin: armpits, groin, under the breasts)
• neurofibroma (may appear anywhere on skin)
• scoliosis (abnormal curvature of the spine)
• digestive tract neurofibromas (may cause pain, vomiting, chronic constipation or diarrhea)
• neurofibroma café au lait spots (similar to dark birthmarks – may occur anywhere)
• early or delayed puberty (neurofibromas may increase in size and number and may also occur during pregnancy)
• pseudarthrosis (failure of a fracture to heal)
• knock-knees or bowlegs (genuvalgum or genuvarum)
• bone deformities 

My husband, The Family Guy, has it.  He was never officially diagnosed until it became apparent that our newborn sons had it.  As a baby he was misdiagnosed with something else (Cystic Fibrosis, I think) and he was given a few years to live.  Well, he's now 33 years old and still with us.  Beyond that his parents never had him tested or re-evaluated for anything else, which I suppose is just as well because not much was known about this disorder in the 70s. 

And the thing is if you have a child with this there is usually no way of knowing which symptoms (if any) may occur until school age or puberty years.  Neurofibromatosis Type 1 occurs in 1 out of every 3,000 births.  For me it was 2 out of 3 births.  Its generally not diagnosed at birth although there is one way it may be obvious: the classic multiple cafe au lait spots.  My mother calls them the "giraffe spots".

I met my husband five years ago at work.  Someone mentioned to me, "Have you ever noticed the spots he has all over his body?"  I hadn't noticed, but when I became closer to him I did.  They are kind of hard to miss.

I never thought anything of them, though.  Neither one of us did.  One way it was and is obvious that my husband has NF is that 50% of NF cases are affected with significant learning disabilities.  He had them all throughout his school years and he has a very noticeable speech impairment.  This stuff never mattered to me.  I once had a "friend" who asked me "Didn't you notice that something was 'off ' about him... that something was wrong with him?"  Well... no... but I realized something was "wrong" with her fairly quickly!

As for his childhood problems his parents didn't really seem much concerned (let's just say his childhood was not ideal), and getting a medical history from them is just about impossible (I've tried) but as far as we can tell the NF case began with him (this disorder can be a random genetic mutation).  Now that his mother knows about him (and our kids) though she is quite literally like "meh".

When our first son, Trent (the Loaf Tornado), was born his entire forearm was covered in red marks and he had several cafe au lait "spots" already and throughout his life they have continued to randomly pop up.

Trent:


 

Trent seems so far to have no "physical" problems except being bowlegged which may or may not be related.  But it became apparent that on speech and communication he wasn't hitting his milestones (although he seems to comprehend and understand just about anything).  He seems to talk and communicate on (if I had to guess) a 1 1/2 year old level.  He just turned 3.  Therefore he is already going to school five days a week in an early childhood intervention program and they already list him as "special ed".  When we had to have the meetings for his starting of the program I submitted the paperwork for his disorder and the staff had of course never heard of it and couldn't pronounce it.  When they asked what it was and I tried to explain they gave me the blank 100 yard stare.

When Miles (the Meatball Tornado) was born he had a bit of a problem.  He had trouble breathing and was in the NICU for about 10 days.  He was born with only 1 spot but by the time he left the hospital he had about 6.  As he was learning to breathe on his own I noticed his chest looked a little funny.  Like Trent he has continued to grow new spots (he will be 2 in June).

Miles:

He also has some of the little "bumps" that even his NF doctor seems unsure if they are the "neurofibroma tumors".

Last month the boys went to see their NF doctor (for now they go once a year).  Remember how I'd said Miles' chest looked funny?  Well after his 1st birthday it got worse:

 

And the NF doctor said that if it gets worse when he is 2 then he will have to be referred for cardiac care (because the chest depression will pull on the muscles of his heart, the way I understand it), and that this is definitely related to the NF.  I have looked around online and so far only have seen one NF parent who had a child with this (it was in a You Tube video).  She referred to it as "winging scapula in both shoulders causing his chest wall to sink in and become deformed".  It's hard to wrap my mind around this... this is Miles... the most active of all my kids.  He literally climbs the walls.  I've had to get up 20 times to pull him out of or off of something just while writing this!

...And it's become obvious that I can't think to myself, "Maybe my sons just have a mild case.  Maybe it won't really affect them."  Yeah, maybe.  Or maybe they could face a lifetime of surgeries and illness.  I shouldn't scare myself with every scenario of what could be, but I can also no longer be oblivious.  That's the trouble with this disorder, there is so much that "could" happen and such a broad range in the spectrum of what "could" go wrong.  I don't mention it much to people because when I do I sometimes get the attitude of, "Well, that's what COULD happen, nothing terrible has happened YET, right?"

I started reading up and communicating with other NF moms and some of the things they are going through.  In some ways it helps me to not feel so alone, and in other ways it adds to the fear.

I mentioned this video earlier... it's a good general indicator of what "could be".  For now we take it one day at a time and I am trying to "let go and let God".

The Loaf Tornado is Off to School!

I can't believe one of my babies (BABY... he's still in diapers!) is off to school today!

I can't believe it, yet that doesn't make it any less real.  He did well, he was excited up until the moment the bus came and he cried a little bit then.  Guess I'll find out when he gets home if he's going to be mad at me!

Another Spoke on The Wheel

I'll admit I never was one that kept up much with the Pagan Holy Days, although I am seeming to be better with that in the past couple of years.  Also, while I find the Celtic side of things beautiful it doesn't speak to me the way it does to some, so I've never known quite what the Holy Days really mean to me.  I wonder if it is because not only am I a VERY solitary practitioner, I am the only one in this family.  This isn't something I can share with the Family Guy... not because he'd be against it but simply because it would be way over his head and he'd have absolutely no interest in it.  As far as the children I made a decision a long time ago to raise them to be open to all paths and to find the one they wish to walk when they are of age.

Someone at one of my favorite blogs, Hippy Jersey Devil  , provided a very simple explanation of her take on Imbolc that really spoke to me in a way I could relate to and use in my own life so I'd like to quote it here with many thanks to her for her wisdom:

Imbolc is the time when the sun rises a bit earlier and sets a bit later, however, in my neck of the woods the ground is usually covered in snow.  I say usually because this year Winter seems to have quite the sense of humor and Imbolc will be 60 degrees.

Anywho.  Imbolc is a reminder and a promise.

A reminder that we are still in for many weeks of hibernation and cold (fingers crossed on the cold and snow, Winter is my favorite season after all).  A reminder to savor those moments of rest and rejuvenation.  A promise that in due time, The Wheel will turn as it does always and those warm breezes and green sprouts will again visit us at Ostara.

Imbolc is the glow of fire in a dark room.  The sun just cresting the horizon yet barely visible.  A time to plant the seeds of your wishes, dreams and goals so they may have time to germinate and eventually bloom.

Wherever and however this day finds you, tune into the cycle - even if just for a few moments - and feel it with every cell in your body.  Perhaps you are performing an elaborate Ritual with a group or by yourself.  Maybe you are like me and will be sitting before your altar alone in prayer and meditation.  There is no "right" way to celebrate this, or any other turn of The Wheel.  If you get caught up in your plans, you may miss the Rainbow.  Thankfully, I am not a stickler to rules and stringent in my Spiritual practice.

If you obey all the rules you miss all the fun.

~Katharine Hepburn~

As with all things Magic and Pagan, be where you are and how you are.  Intention and Love. That is magic.

*Bright Blessings, friends.
Winter

The Rest of 2011

A duplicate post from my family photo blog,  The Herrman Clan/The Burrow 
(Feel free to follow if you are interested and haven't done so already). :-)

Well this year has been so busy that I have hardly taken any pictures since September.  That's when Family Guy started his new job and to be honest the change threw me into a downward spiral of depression that I'm just now shaking off and EVERYTHING fell to the wayside for me. Depression and scheduling changes have left me completely lost as far as organization.  Speaking of organization... here are a few photos of what The Burrow is like when actually organized and full of positive vibes.  Unfortunately I think its been a while since we've enjoyed this element of calm.

A healed version of my first tattoo (the non bloody version):

My favorite Halloween/Samhain photos:

Check out my costume yo... a 2011 twist on the classic hippie. And one of my kids was a cop. Lol... that wasn't even planned!

Officer Loaf Tornado, The "Halloween Police".

See... the protesters and police can get along! All it takes is cookies!!

Whoa Tornado's cat costume... meow and stuff. :-)

Meatball Tornado's adorable costume...

My sis, my kids, children of fam friends...

Happy Halloween from The Herrman Clan!

Introducing our newest addition, our parakeet Mordecai!  He came home to The Burrow back on November 13th.

Taming Mordecai:

I had hoped for him to be my "familiar" but Family Guy is by far his favorite.

...and that's pretty much it.  Although we had a very nice holiday season I just didn't get around to photo documenting it this year.

The Torment of the Gemini Mindset

Today's memorable for me in at least two ways... my husband's (The Family Guy) 33rd birthday and the end of the Iraq war. 

I find myself wanting to write about so many different things but can't seem to settle on any of them.  See, in truth I probably follow at least 80 blogs or so (not all of them on this account and not all of them daily, but I step in enough to know at least mostly know what is going on in these other lives that fascinate/inspire me).  And most of these blogs continually post thoughts I would have maybe blogged about myself and I find myself wondering what would be the point of saying basically the same thing with my spin on it.  I miss the times when I first began blogging (2004, while pregnant with my first Tornado) back when not many very people were blogging yet and when they did it was raw and honest.  Nowadays there are so many blogs with a huge following (especially "mommy" blogs) that when anyone writes now (even those with little following) they are writing more "article" style in order to gain new followers or to provide inspiration to the existing audience.  Well, I find myself doing this anyway, and I have no idea why.

I am a Gemini sun sign and in very typical stereotypal Gemini fashion I am interested in everything but rarely actually commit to or follow through with anything.  The same goes for my presence here.  This morning I wanted to write about the end of the war.  Then past pregnancy experiences.  Then finding magick in the mundane of day to day household activities. Then politics.  Some things (like the latter) I only have the most minimal knowledge on and wouldn't even be "qualified" to write on (i.e. I'll look like a total dumbass saying I think the Iraq war went on way too long and cost too much government spending when I can't provide the exact facts on why when someone is hot to debate in a comment 59 seconds after I posted).  Then I think to myself... ooohhh mybe I should archive ALL my old blog posts from past blogs here! Hmmm... also I have "continuations" on past posts on daemons and "domestic goddess-ry" that I never followed up on.  I wanted to post on ALL these things within the past hour.

So naturally what happens?  Well... weeks at a time go by where I simply post nothing and just keep reading the other umpteen blogs where they actually commit to their subjects.

Tonight I Will Be Losing My Virginity...

...my tattoo virginity! If all goes well and my sister and I aren't stuck hanging out at the tattoo place without ever getting served before closing time I will be getting my first tattoo that has been four years in the planning! (I figure I will never regret it if I've been waiting and debating THIS long)! It will be an exact matching tattoo to one my sister has, quite simply:

Now this goes way beyond "OMG I love Harry Potter I'm such a geek, lmao!" There's actually layers of both personal and spiritual "meaning" to it for me, which is something I will go into on another post.

So at 36 years old I will finally be getting my first tattoo. :-) Which is a bit ironic to me because in my 20s I was actually kind of anti-tattoo. And then when I had my first daughter right as I turned 30 I suddenly began wanting one to represent her and that desire never went away. Next year I actually plan to get a version of the mermaid mother I have at the top of this page:

...and then have the kids' names put around it. Then at some point I want something similar to this to represent both my spirituality and my marriage (as we are literally as different as night and day):

So, tattoo virginity should be disposed of tonight. Wish me luck!

(oh and by the way I have a new post at my family photoblog): http://slytherinburrow.blogspot.com/