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.
Showing posts with label hypotonia. Show all posts
Showing posts with label hypotonia. Show all posts

Thursday, September 6, 2012

tests, tests, tests.

AT LAST!  we got an appt at the hospital for finnys big MRI...  after two days of back and forth calling of the neurologist, our insurance, and the pediatric radiology patient coordinator, he goes in on the 26th.  im relieved to finally have all the appointments made, but of course a little anxious about the baby having to go through all of this.  and while i understand the reasoning, i really hate that he has to be put out for the MRI, it just makes me nervous. 

and once the MRI is done, i think it will give us a ton of answers, and totally confirm my belief that my baby boy is that 15 % that is/and will be intellectually normal.  if all we have to deal with is his slight physical delay, then i will be the happiest mama ever!  we'll just keep going to physical therapy and get him back on track. 

speaking of physical therapy... our last appt was two weeks ago because his therapist (who is fantastic, btw) went on vacay. anyway, baby boy took his first steps! it was super awesome, and totally emotional. easily in my top 5 best days ever. he took about 8 steps unassisted in a row, i recorded him taking a few at a time, and he hasnt taken that many since but thats ok, he did it once, he'll do it again.

Wednesday, September 5, 2012

the beginning.

so about midway through my pregnancy with the second love of my life, we realized that there was a problem...  again.  my little man wasnt quite growing on track, but it didnt really surprise me or even worry me too much because my first son also had intrauterine growth retardation and he was and is perfect.                                                                     

i was induced the day he was due and other than the epidural not taking, delivery was fine.  he was a little upside down in there, but through some fancy pushing by yours truly and the help of a fab ob, all was fine.  he was 6.14 lbs, scored well on the apgar, totes normy.

fast forward a little...  hes 10 months old and still not sitting up without leaning forward on his arms, kinda like a sweet yoga pose.  my baby sees the nurse practitioner at our pediatricians office and i absolutely love her, she recommended that we go see a physical therpist just to see what they think.  we made our first appointment and we've been going since march.  he was diagnosed with Hypotonia, and now wears ankle/foot braces to help keep his feet a little more straight when he walks.  hes made a ton of progress.  he sits unassisted and can crawl like its nobodys business.  hes walking if he has a little help, but has taken a few steps here and there all on his own.

meanwhile...  his head is tiny.  but so are his dads, his brothers, and his mamas.  so we kinda just brushed it off for awhile thinking it would catch up.  but it didnt, its way small and doesnt seem to be growing on track, so we were sent to a neurologist.  after our visit with him, finny was disganosed with Microcephaly so we have to get more tests done to see what exactly we're dealing with.  we got some blood work and urine anaysis done, we have an MRI scheduled in a couple weeks, and we'll see a genetic specialist in january.  luckily we wont have to wait that long for answers, we should get some kind of idea of whats going on once the neuro recieves all the other info.  oh yeah, the little man also has a giant birthmark which could be nothing, 'just a birthmark,' or it could mean something else, so we see a pediatric dermatologist this monday.  apparently there is some kinda connection between large Cafe au lait spots and some of his other issues, so i guess we'll see, the neuro was pretty interested in it and wants all the results from the dermatologist as well.  and weirdly enough, when i made the appt with the genetic specialist about his microcephaly, the first question was if he has cafe au lait spots...  i dont know, but i guess well find out. 

im sure theres tons of stuff im leaving out right now, but i will come back and update this first post as i remember things.  im currently writing this while two toddlers are running around me.  :)