Remember what I said about patience? Last night by the time we were leaving the hospital, the fax had come in and was in the hands of Ren’s nurse as she was standing in front of us, but she could not tell us what they said. Mainly bc of protocol, also because she can’t interpret genetic mumbo-jumbo.

“Have you looked at what is says,” I asked her.

“Yes, but I don’t understand what it means,” she told us. “You probably would,” she added.

She was right, I’m sure I would as I have been devouring anything I can get my hands on when it comes to SMA and genetic disorders in general. By the time we got home and settled in we got a phone call from the doctor on duty around 10pm. She told us that the results showed “No deletion of SMN1.” What that means is that it is not Typical SMA. This result is great news, but not a surprise. This is the form of SMA that we had both tested negative for as carriers, so the chances were very low that it would be the cause of Ren’s condition. Had we stood by and let the neurologist order what he wanted, we would be back at square one with no answers today, but because we insisted that a second test for Atypical SMA be done, we already have that test underway and will receive results within the next 24 days. I can’t stress enough how important it is to educate and advocate if you find yourself in any situation that involves your child’s well-being. We aren’t out of the SMA woods yet, but we have certainly dodged a big bullet today and are grateful. Ren is also proving that he/his condition is anything but “standard” as the neurologist had previously stated so nonchalantly.

Yesterday was a big day for Ren. In addition to acing his test, he also underwent an MRI on his brain and started his physical therapy with mom and dad. He has been seeing the physical therapist twice a week behind our backs (sneaky little stinker) but yesterday we all met and learned about range of motion exercises that we will be doing with him daily, from here on out. Because of reduced movement in utero, Ren has exteremly tight hips and knees so we are going to help him loosen up by working through mobility exercises everyday. Fortunately, babies are able to overcome this much easier than adults, as per his physical therapist. He also underwent an MRI of his brain that we are anxious to get the results from, but at the same time do not expect any abnormalities. This test was a request of the geneticist, but even she felt the chances of something structurally wrong, were slim. It is difficult for Ren to move his head, but it is undeniable that there is a lot going on in there when he stares and tracks with his eyes and responds to our voices and touch.

This is a good place to talk a little about how SMA affects a baby and some of the symptoms that lead doctors to believe this may be SMA. Areflexia (reduced or absent reflexes) and Hypotonia (low muscle tone) cause a baby to have significantly reduced movement as well as respiratory problems. Over the last week, Ren has gone from virtually zero movement to wiggling his hands and feet, and over the last two days we have begun to see subtle movements with his head, hips, and elbows; as physically small as they may be, these movements are huge! Devona took a quick video of him moving his head side to side and I have posted it below. Our little guy continues to amaze us daily.

I am having to post video elsewhere and link it to this post, so here is picture of beautiful momma and Ren instead.

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