01 March 2013

the details

okay, so i jumped on here thursday & quickly updated about the good news of ruby's confirmed (I guess I should say, corrected) diagnosis. but i wasn't too specific about what that exactly means for ruby. so, here are the details!

basically, people diagnosed with sma can be anywhere on the spectrum of strength/weakness, with type 1s being the weakest and type 3s (or type 4 or adult onset) being the strongest. however, within each type there are people who are stronger or weaker than another person with the same type of sma. additionally, two people could have the exact same genetic make-up (in terms of the smn1 & smn2 genes that are affected) but still have different symptoms and prognosis. there are unknown genetic factors that impact those things. so, as you can see, no two people with sma are the same.

clinically speaking, type 1s never sit up. type 2s sit up but don't walk. type 3s walk but then develop weakness overtime. in ruby's case, because she was taking independent steps at one point, dr schroth has diagnosed her as a type 3. ruby is strong, in terms of her respiratory functioning, which is key. overall, ruby looks really good, considering her genetic male up. within the first five minutes of dr schroth meeting and observing ruby, she had diagnosed her as type 3 and told us she will have a normal life expectancy.

it was the only few minutes of the (very) long appointment that i cried. happy, happy tears.

dr schroth did give us information on potential medicines that we might be able to have ruby try. they haven't been proven to work in clinical trials but they have worked for some people. so we may look at those as options in the coming months. there are side effects & ruby would be monitored closely to make sure she's doing ok on the medicines. if we go that route, I will certainly give an update.

other than that, we were basically sent home with a reminder to monitor ruby's cough, if she gets sick. ruby will likely become weaker whenever she has a respiratory virus but then should regain strength after she feels better again. at this point, dr schroth said that ruby doesn't need a cough assist machine or bi-pap machine to help with her breathing at night and/or when she's sick.

we will continue to work with ruby's PT, lisa, and will take ruby swimming often, which is also really good for her. I also have to call and find out where she is on the hippo therapy wait list. I'm excited to get that started. I think ruby will freak out when she's actually on the horse at first but eventually I think she will like it.

other than that, ruby is a typical (almost!!) two year old. dr schroth made this note in ruby's discharge summary:

"ruby is very smart. the only delay she will have will be gross motor and thus, should be disciplined as any other child, including boundary setting."

noted, dr. schroth. noted. ;)

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