fanconi anemia.

our little gem of a boy was born october 3rd, 2011.

three weeks later he was diagnosed with a rare {recessive} genetic disorder called fanconi anemia.

no one really knows about it. even a lot of our doctors, & we didn't either, so now we want to spread the word, because the more people that know, the better chance isaac, & a lot of other kids like him, have a chance at life.

isaac is being followed by over 12 doctors. within the first three weeks isaac was diagnosed with not only FA, but:
-imperforate anus
-small optic nerves
-severe congenital hearing loss
-missing radii & thumbs
-fused kidneys
-grade IV reflux
-a tethered spine
-a heart murmur

& probably another thing or two that i am forgetting. i know that probably just sounds like a bunch of gibberish to most people, & it did to us for a really long time, too.
some of those things, especially his hands & his small size in general, are the most obvious & we've found that because of that, people think that is what FA is, understandably so, because it's what you can see. but thats not even really the half of it.

what it is:
in two sentences or less {maybe three}: FA is an inherited blood disease. the result is bone marrow failure that results in a bone marrow transplant. even then, a transplant isn't a cure for fanconi, only a victory. FA kids {& adults} are always incredibly susceptible to other head & neck cancers. a transplant is considered necessary when all blood counts plummet to dangerously low levels or a child is tested & is pre-leukeimic.
even though Fanconi is primarily a blood disease, it can affect all different systems & body funtions, as is the case with isaac. its patients vary from looking completely normal, to having multiple physical anomalies.

right now the average life expectancy for an FA patient is 25 years.

we think that is much too short. but really, if we're being honest, we would be beyond glad to have isaac with us for even that long. even so, we are hoping & praying for more.
this is our {new} journey through all of the messes of hospital visits & researching & trying to just be a normal family - fighting, but also not living life revolving around this disease as best we can.

there has been SO much amazing research that has been done & the survival rate for these kids & adults undergoing bone marrow transplants has more than DOUBLED in the past 15 years. which means for us, that isaac was born at exactly the right time. we're definitely fighting an uphill battle, but we have hope.

you can help! here are just a few ways:
1. register to be a bone marrow donor!

this is something that we are really passionate about. it's so easy to get your dna coded & registered. all it takes is a cotton swab. registering doesn't guarantee that you will ever even be a donor. just that you are willing. & the more people in the registry, the better match anyone with a blood cancer will have. & also a better chance of surviving the transplant. you can register online, & a kit will be sent to your home.

2. spread the word about how important it is for people to be marrow donors!
we're not crazy. i know this is a commitment. & it could possibly mean missing a few days of work. but it's saving a life. the thought of donating marrow to me was always really scary before, because i didn't really understand it, & i also didn't realize that there was a shortage of donors & only about half of people that need donors have a match. a few hours of your time could mean saving a life! & we think that that is a pretty awesome way to spend your time...

3. donate cord blood! i posted more details about this here.

3. most of the research funds for fanconi anemia come from the affected families doing fundraisers.
ummm WOW! these are amazing people. we are so swamped with doctors right now, i can't imagine putting together a fundraiser just yet, although we hope to eventually…
if you are up for it - or your school, church, community - you could help us out & do a fundraiser of some sort, too!

4. if you are/know a med student - consider doing your thesis or any required research for fanconi anemia. a lot of the information we have over the past several years has actually come from med students! contact the research fund for more info & resources.

our hope:
for us, this journey is one that we didn't expect. & growing up we never dream of our lives looking like this.
you could say that we are two decently good people & even though we love isaac now more than we ever could have imagined, a lot of people would probably say that life has handed us some pretty cruddy cards. 

but we believe that there is much more to life than just getting by or being good, or living life as easily as can be. don't get me wrong, we liked life when it was pretty trouble free. a lot. but eventually bad or hard things happen. & now that we've experienced some of them - we still have hope.

we believe in God. that he loves us. even if things don't work out perfectly for us in life, we believe more than ever that he loves us & that he loves isaac, too. & in return, we love Him. that he loved us so much that he sent jesus to die for our sins. & while we may be 'good' people, but we can't possibly be good enough to get into heaven on our own. & the hope we now have comes from knowing that even if life isn't perfect for us on earth, there is more for us than just the 80-something, or 20-something years or however long we have here. we have hope & can walk thru {most} days joyfully knowing that we will live in heaven with jesus. our hearts already long for the day.

honestly, if you had asked me years ago the very worst thing that i could imagine that could happen to me - this would have definitely been towards the top of my list. but now that we are isn't what we would have picked. & it hurts sometimes a lot. but it's not as scary as i thought it would be, either. the joyful times & the fun we have are more wonderful than they ever were before. & our boy is perfect to us. & every day we all have together is special. there is a bittersweetness to life. a beautiful kind of joy deep down in my bones that wasn't there before.

even when things are hard - & the days that i am angry with God for the way things have worked out - {because those days do come} even still,  i can see little bits of the richness of life that we are experiencing now that we never would have before. we have hope because we know with no doubts that god knew what he was doing when he gave us isaac. we have faith in our god. we love deeper. & laugh harder. 

i know a lot of you may think that we are crazy, or would just disagree. or maybe even find what we say upsetting, or be confused, but thats okay. i'm not always so great at explaining things, either. this is really just the tip of the iceburg for us. it's hard to even find a place to begin to explain how we feel.

i do think, though, that if we believe something, & if we have found hope & even joy in something that is difficult, it would be wrong & unloving of us to not share the source of our joy & peace with other people. & because of that, we share just a bit with you!