After thinking that my baby was going away for good and suffering with that knowledge for months, we were told that he actually has a different genetic defect. The symptoms are similar to SMA in the begnning but is pretty much the opposite of it when the the baby hits the toddler stage. Not only will Sam be with us for a long time, he'll also be able eat, sit, walk and do pretty much everything on his own. The crazy thing about the disease is that kids are usually tube-fed when born due to weak muscles and then gradually grow in strength until they can eat by themselves and not only that but they usually end up obese because they never feel satiated! Aside from that he is expected to have developmental delays or difficulties in almost all aspects. Upside of the delays is that we are getting to enjoy his small succeses so much. Very rare is it that you'll find parents who get really excited and proud everytime their 9-month baby sits up for a few minutes or manages to finish a half ounce of milk using the bottle. Things are definitely looking up.
For those interested in learning more about what Sam has just go to the Prader Willi Syndrome Association website for now. I'm pretty sure though that i'll be posting more about it sooner or later. Hopefully sooner.
Thank you so so much for all the prayers and support. Miracles really do happen.
Learning to sit with Granny and Mommy.
I can sit with just a little help from my mom. ^_^
I'm so tired!
14 comments:
Hangkyut. kelan aalisin yung tube?
hehehe! ang cute cute nya na lalo, parang marshmallow. :)
han, hintayin namin balita mo. please tell us din how we can help, oki? :)
woooow!
i'm speechless!
*nanggigigil*
=D
taba na taba na, haha :p
Can't help but feel a bit irked that the experts didn't mention the possibility that this could happen.
^_^, btw. =)
sabi sa inyo magiging ufc champion yan balang araw eh.
/gg sam
Angel - Pag kaya na nya feed without it. Funny thing is we cheer him on when he sucks really well but we know we have to stop encouraging him to eat sooner or later. Baliktad naman...kelangan pigilin!!! That is so crazy. Hehe. ^_^
Che - Prayers, prayers, prayers. And the fact that we know people are excited with us as Sam reaches milestones is a big help. On a more practical light -- pasalubong na supplies ni Sam if and when you visit..hehe.
Nikki - Come visit ulit para pwede mo na pangigilian in person at pwede mo paglaruan. You can try putting him in a crawling position and watch him cry. Ang sama but its so cute that we end up laughing during his therapy kahit hirap na hirap na cya.
Cel - You're right. But the problem was that our neuro was really convinced it was SMA. The good thing about her was that as convinced as she was (plus that stupid EMG/NCV test gave us a positive result for SMA) she still refered us to a geneticist to make sure. Now the problem is that our poor country has only 3 pediatric geneticists and we were able to squeeze in Dra Cutiongco's schedule only this end of Feb. Btw Dr Cutiongco is the best i so highly recommend her to anyone who needs genetic counselling. And she pays her taxes too!
Han, this is the best news I heard all week.. Thanks to you and Sam for sharing your milestones..
omg, he's so cute! :) sayang lang i didn't get to meet him when i was there. pag-uwi namin, lalaro sila ng baby paulo ko. :)
anyway, i'm so happy sam's not having sma. kahit papano, it's still a blessing.
btw, did you know i planned to name my baby samuel? for the longest time, sinasabi ko yun sa husband ko. pati officemates ko akala nila yun na name na gagamitin ko. tas naisip ko baka sabihin mo gaya gaya ako! hahaha joke. :) napili ko ung paulo just before we left. :)
this is the 2nd good misdiagnosis news i've gotten this month, ang saya!! ^_^
go sam! :D
uy ang saya naman =) galing-galing... chubby chubby na nga si sam sa pic o... cute =)
Hey Hannah, Mark, and Sam! Ansaya naman marinig ang balitang iyan :)
Mark,
What a very good news! Baga kamo an nabunutan san tunok sa tutunlan! I don't know if you believe this but most mothers, like my wife, believe on touch therapy. Nasubukan mi ini san naaksidente an magurang mi. While undergoing therapy at PCMC, my wife would massage her legs twice a day. Massage man an nakaayad sa first black female Olympic runner who won a gold medal who had a polio during her childhood.
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