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".