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!

The Root of It All and Zombie Babies

I feel like elaborating a little bit on what my recent depression stems from... maybe the only way out is through.  Story in a nutshell?  There are many days that this whole mom gig isn't the way I imagined it.  No worries... this isn't a poor me thing.  I love my kids more than life and being a mother was seriously my number one ambition since about the age of two.  So I'm not trying to bitch now that it sucks.  I think this is going to require flashing back to about the years of 1990 and 1991.  Back then I was in my very early teens and I had one pre-school sister and two toddler brothers.  Back then my parents were very low income and they barely scraped by in a small mobile home.  My mother had to work overnights so during the summers I was appointed by default to babysit the kids while my mom tried to sleep.  Mostly I just sat helplessly on the couch and let them run wild or park them in front of the TV because I didn't have the emotional maturity to know what to do with them.  I didn't yet drive (and there was no car during the day anyway) so pretty much we were all stuck in a dark living room in front of the TV.  I felt so trapped in my life and they felt just as miserable with me.  I vowed I wouldn't "end up" like my parents and made it my life's work to make choices to lead a different type of existence.

Since my husband started his new job a few months ago his work hours are later in the day than his old job and I'm with the kids much longer. Through a series of circumstances through the years I have come full circle just about exactly where my parents were all those years ago... barely scraping by in a small dark mobile home with three miserably bored kids.  I had all these visions of parenthood I'd tried out with my oldest and it turned out many of them didn't work out the way I'd thought they would.  All this is mainly where the recent depression seems to have originated from.

Again I just want to say that I don't want to sound like I don't appreciate my children.  I have a crap-ton of bookmarked blogs I read about some very sick children: children with deforming cranial-facial disorders, or crippling rare skin diseases, or childhood cancer... the list goes on and on and these mothers always seem to handle these insurmountable challenges with nothing but grace.  My children are healthy (for the most part) and I know I am blessed blessed blessed beyond belief.  I just wish *I* could handle my day to day challenges with the kids with more grace.

See this picture?

I work late nights and don't usually get to sleep until 1 or 2 am.  Then I'm up at 6:30 am trying to cattle prod supervise my daughter to get ready for school.  But many times before I can even do that my Boy Tornadoes (ages 1 and 2) wake up.  And they don't just wake up with an oh so cute pitter patter of feet across the house.  No.  They wake up screaming bloody murder.  And they look and act like Zombie Baby pictured above.  My heart always lurches into my throat every morning at those screams after my 3-4 hours of sleep.  And then its about 30 minutes of chaos sending Whoa Tornado to the bus stop and getting the Boy Tornadoes changed, calm, and fed.  And that's just the beginning of my weekdays.

I spent my whole 20s dreaming and obsessing about becoming a mother.  I guess I just thought I'd have it more together and would enjoy it more (instead of feeling waaay overwhelmed at least 1/3 of the time).  And that is the root of the depression.  Since I don't want to wallow here's a recent quote I found from an old book of shadows I once kept (from the 90s - lol!) that put things more into perspective for me:

Your overall outlook on life is important not only to your physical and mental health, but it is also a vital factor in your competence as a Witch.  If you are depressed, angry, floating through life with a feeling that all things you try leave you unfulfilled, you are doing yourself little good.  To be successful in any endeavor you must "think" success.

That was Silver RavenWolf.  As I've said before she's the writer that started me on the Pagan path long ago and at the time she worked well for me.  Pretty basic there... but its probably time for me to go back to basics.  The notes from the passage I'd copied went on to an exercise of controlling your thoughts for self improvement:

Create an aura around yourself by programming responses to a difficult situation.  Close your eyes for a light 5 minute meditation and mentally affirm to yourself the type of person you wish to project... as if putting a sort of mental spell on yourself.

Sounds pretty easy, basic and doable, right?  I just have to remember in those moments to actually DO something similar to that.

Even though life is...

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/