Update on Sam...

Sam had an appointment with her mito specialist Monday.  I always come out of these appointments not quite knowing how I feel.  We've been worried about Sam lately and it was good to talk to her doctor.  I'm not sure how best to write all this down for you, so bear with me... 

Some changes we've seen in the last three months or so-  1. Sam has lost her "r".  She can say the r sound at the end of words, but uses a w sound in the middle or beginning.  This is new for her and a step backward for her speech.  She used to be very clear and easy to understand and now half the time, I can't understand her.  2. (sorry to go here...)  Sam has a lot of trouble going to the bathroom.  She'll sit there for five minutes, pushing and crying and hurting and one little kernel comes out.  Also newish.  And really sad.  3.  Her circulation in her hands is not very good.  She describes her hands as feeling "frozen" or "locked" and they are often red at the finger tips and bone white everywhere else.  4. Her upper lip, from her nose to her lip has been turning blue.  Not all the time, but sometimes.  5.  She's had some really tired days.  On one of them, she fell down the stairs three times.  She just couldn't walk down them.  (She was not injured in any of her falls.  Good thing our stairs are split in two...)  

 So, here is what her doctor had to say...  Since she started preschool and has grown (a whopping 5 pounds in two years...)  her body could just be not compensating for the new growth and learning.  It takes a "tremendous amount of energy to learn and grow," he told us.  So he upped her riboflavin and if she improves, we'll know it was a growth thing.  If she doesn't, then we'll know her disease has progressed a little and this is the new normal.  Her also prescribed Miralax for her.  He said that 99% of mito kids take it and she'll probably need it for the rest of her life.  That's an easy fix that I am ok with.  The doctor reassured us that her fingers wont fall off, they are getting enough blood and oxegen, it's just her capillary's shunting blood to other places.  Another common mito thing, apparently.  He says she looks great and I agree.

Along with the worries, we've also had some great triumphs. =)  Sam learned how to pedal a bike (after working and working and working on this in therapy).  She can ride a scooter like a pro and really is learning like crazy.   She loves school and is doing really well at it.  Her toe walking is not gone, but a lot better.  She's still sleeping 16 hours a day, but when she does miss a nap, she can cope just fine.  We pay for it a little the next day, but she can function without a long nap and that is nice for all of us when things are busy.
I know this is long and complicated and possible doesn't make perfect sense, but hopefully you can get a picture of where Sam is.  She is a great joy and light in all our lives.  Some days are hard, but mostly we just don't think about it.  Any backward steps are scary and I'm still learning how to deal with those, but the forward steps are so fun, that it helps.  Thanks for loving my daughter.