Monday, February 23, 2015

The Phone Call...


The neurologist called this week. The minute I heard her voice I took a DEEP BREATH!

I knew once she said the results that she couldn't take them back and I couldn't un-hear them. 

Once the words were said then there would be NO TURNING BACK!

She said "Bryan's SMA genetic test showed that he does NOT have type 1, 2, or 3". 

WOW!

WHAT does this mean?!

Has GOD performed a MIRACLE right before our EYES?!

She went onto say that she still thinks Bryan has Distal SMA. 

(Although when we google Distal SMA Bryan doesn't exactly fit the description - which mentions adult onset - but he does seem to be primarily affected in his limbs.) The doctor isn't sure how distal SMA is diagnosed. She also mentioned polio again. He doesn't quite fit the profile for having had polio as his weakness is basically symmetrical and polio usually isn't. Bryan had the polio vaccines in the orphanage so he tests positive for the polio titers. Apparently there is no way to tell the difference between having had polio and having had the vaccines. She also brought up the EMG again - but says she would only consider doing that if it will give us answers. 

We are CHOOSING to PRAISE GOD for this good news!

We suspect that Bryan does have some form of SMA - based on how he presents and other kids we have observed/read about, and that his doctors haven't raised any other strong possibilities. We also PRAY that if that's the case, the SMA he has is not as serious.

It may be a while before we know anything....the neurologist is researching and seeking advice from colleagues. We are still waiting to get an appointment with genetics to get a full genetics screening done. Bryan may or may not need to have an EMG or muscle biopsy. We are hoping to contact the leading SMA doctor to see what we can learn about distal SMA.


Bryan riding in my backpack on a field trip to the Aquarium today. He loved it!


THANK YOU for continuing to pray for Bryan and our family!

Blessings, Sandy

Sunday, February 15, 2015

I have decided I don't want the genetic test results....


Bryan loves Legos!

He also loves to play with trains, cars, and Duplos.


I just love watching his sweet little face concentrate on building.

He sometimes gets frustrated, but nothing that help from a big brother or sister can't fix :)


I am so in LOVE with this little man!

His JOYFUL spirit, his easy going attitude, and his KISSABLE cheeks!

We saw another new PT this week. 

She has seen many SMA kids over the years so has LOTS of experience with them! She agrees that Bryan's AFOs are too heavy, bulky and not helping him (so we won't be using them anymore - YAY!). She is going to make him a cast to wear on his left foot/ankle at night to increase it's flexibility over time. Since he sleeps next to me my mom did mention that it should be an interesting night time weapon :) She also understands that SMA kids don't gain muscle - so typical PT isn't helpful. She talked a lot about preserving what he currently has and not fatiguing him too much. She talked about preserving him for the possibility of  future treatment/cure - that we want him at his best so he can take advantage of what might be coming in the future.

The PT also mentioned that when Bryan walks his hips get cocked funny as well as his back. She isn't sure we should push walking - if Bryan wants to then fine, but otherwise his crawling might be better for his body. 

That was kind of hard to hear....

The walker/gait trainer that is on order hasn't come in yet - I wonder if Bryan will even use it?

The PT did mention ordering a wheelchair at some point in the future. She said we would start with manual. I asked if we would teach him to move it around - but she thought that would be too fatiguing for him so we would push it for him. 

That makes me sad to to think about that.....

We expect to get the genetic test results this week - or next.

I have decided that I don't really want the test results. In my heart I know Bryan has SMA....but that slim, very minute, teeny tiny chance he doesn't have SMA will be gone once the official report is in.

THANK YOU for continuing to PRAY for Bryan and our family!

Blessings, Sandy

Tuesday, February 10, 2015

Dragons, Cheese, and Needles!


This weekend we attended our first Chinese New Year celebration!

It was fun to connect up with other local families with children adopted from China.


 (Bryan seems to be paying more attention to the drummer than the dragon)


Bryan had his first "CAR CART" experience at Lowe's this weekend!

He was VERY excited and apparently has started to perfect the "CHEESE" smile :)


Bryan received two vaccinations on Thursday (He is playing catch up from a few he missed in China). Then on Friday we headed to the hospital for his genetic testing in which they drew SEVEN VIALS of blood! (I was starting to wonder if he was going to need a transfusion!!) 

He was none too happy to see that needle....so between tears he kept saying

"It's Darren's turn....It's Darren turn!!"

and of course Darren was saying "I don't want a turn....I don't want a turn!"

I just had to laugh!!

Blessings, Sandy

Sunday, February 1, 2015

Approved!

We got the call on Friday that our insurance approved our request for Bryan's genetic testing!
(We thought we would be waiting MONTHS to hear back from the insurance! Maybe the months are how long the testing takes to process?!)

WOO HOO!
(None of those scary tests with LOTS of needles in his legs!)

So Tuesday we will head into the hospital for a blood draw.
(Armed with a new Lego Duplo toy!)

These brothers have sooo much fun playing together!!


You might notice the walker sitting in the background. It is on loan from our school system until Bryan's arrives. He has used it only THREE times in the two weeks we have had it. A few days ago I tried to gently encourage him to show daddy how he could walk with it (and he can walk really well!). He broke down in tears/started sobbing. We are not really sure why. Daddy hasn't even seen him use it.

 Bryan seems to prefer to crawl, be carried, hold our hands while walking, and even use his shopping cart to get around.

We see another new PT this week at our doctor's office. She specializes in kids with SMA and also has extra training in wheelchair use. Maybe she can help us figure out his resistance to using the walker?


I have found myself tearing up so many times this week that I have lost track.
(Normally I go MONTHS without crying/tearing up!)

But then I look at our HAPPY, JOY FILLED son and it is hard to feel sad!!

Thank you for your continued prayers for Bryan and our family.

Blessings, Sandy