fanconi anemia.


our little gem of a boy was born in october of 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
-hydrocephalus
-missing radii & thumbs
-fused kidneys/early stages of kidney failure
-grade IV reflux
-a tethered spine
-scoliosis
-small stature (in isaacs case, this is because his body doesn't produce enough growth hormone)

& 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, but it is a huge victory in the journey. FA kids {& adults} are more 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 per-leukeimic. Fanconi is primarily a blood disease, it can affect all different systems & body functions, as is the case with isaac. its patients vary from looking completely normal, maybe just a bit on the short end, to having multiple physical anomalies.

*UPDATE*
after several years of isaacs blood counts teeter-tottering, we finally decided that it was time for him to have his bone marrow transplant in nov of 2016. we took him out of preschool and moved out of state from october of 2016 to february of 2017. isaac did incredible through his transplant. the lord has never felt so close or so real to us as in that 5 month period, and we had some really incredible doctors on board to help us. he defied all odds - his kidney wasn't functioning well at the time and they talked us through all kinds of plans for dialysis and worst case scenarios, lowered chemo doses etc...and we didn't have ANY issues. his blood is new and working well today!

 we are blown away by the young man who donated his bone marrow for isaac, and for for such an incredible victory, when we had been dreading this transplant for years.  we still have lots of other things with his health we are 'managing,' but we take each day at a time. isaac is back in school and continues to surprise us with all he is capable of.

i don't update this blog near as much as i used to - you can probably tell. i will still occasionally post something, though! this blog documents a lot of our journey through all of the messes of hospital visits & learning how to take care of isaac through central lines, etc... & trying to just be a normal family. i've probably over-shared some at points. been vulnerable at low points of fighting with my insecurities and feeling overwhelmed. i've struggled through the years with feeling sorry for myself but i'm not feeling a lot of that right now. i am deeply grateful for the simple, good things. for myself and especially for isaac and levi. like being able to take a bath, being out in the sun, sleeping in our own beds. this is a big part of our family life, but its not what has to completely define us.



there are also some practical things you can do to help! 
here are just a few:
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. or go to an event in your area.

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
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.