my sweet baby boy was diagnosed with microcephaly, hypotonia, and now duchenne muscular dystrophy. after searching for some support, i realized there werent many happy stories out there, so here i am to tell you the story of my happy happy baby.

Tuesday, April 9, 2013

not a carrier.

rememeber when i said that we were gonna have a month free of doctors visits, well i definitely lied. 

last week the big boy had some kinda stomach thing and vomitted for 48 hours with a fever.  then blood in the vom, so i had to take him in. not fun.  then sunday night the little one refused to sleep...  at all.  the second we layed him down, he immediately started to scream so i kinda thought ear infection.  yesterday he had a pretty high fever, so i took him in and, da da da daaaa  mom of the year right here...  ear infection.  hes on antibiotics.

BUT.  we got some really great news yesterday too!  the genetics lab called and i am not a carrier!  woohoo!  that means that it would be really unlikely that ashey has md.  and that we could possibly visit the idea of more children...  although there is still a 15% chance we could have another son with md.  well talk more about all that when we got to his appt with the mda clinic in may. 

as much as im happy that im not a carrier and all that that means, its kinda sad too...  my poor kid has a weird genetic mutation that came outta nowhere, unfair.  not that its fair that anyone ever has to have this diagnosis, but for his genes to just go rogue and do what they want.  not cool genes, not cool. 

http://mda.org/newborn-screening

so any of you new moms, soon to be moms, or even parents that want to be in the know...  check out the link above to learn a little bit more about trying to get neuromuscular diseases on the newborn screening checklist.  your baby could have it even if no one in your family has ever had it before.  not that its something you want to worry about, but in terms of treatments...  you never know, it might be better to know earlier one day.  progress is being made on a daily basis.

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