We had an appointment with the geneticist for all three of our boys. At our last meeting with the genetics doctor we had yet to get a diagnosis for Alexander. Once Alexander was found to have SMA, our pediatrician referred all of our children to her. I was very nervous leading up to this appointment. I knew we were discussing whether we should be concerned that our older two sons could possibly be affected with SMA as well. SMA is a genetic disease, and can start showing symptoms at any time throughout a person’s life.
There are 4 types of SMA, depending on time of diagnosis and milestones achieved. My concern was that Owen and Ethan could have Type III or IV. The geneticist reassured us that it was unlikely that they have SMA. She feels that they would have started showing symptoms by now. If they were to have Type III or IV, she said they would have had to inherited an unusually high number of SMN2 genes to make up for a missing SMN1. She feels that this just isn’t the case. However, there is a possibility (66% chance) that they are carriers for the disease. This means that when they decide to have children of their own, they will need to do some genetic testing or counseling. If they are indeed carriers, and their partner happens to be a carrier too (a 1 in 40 chance), then they have a 1 in 4 chance of having a child affected by SMA. We were also informed that we need to let our nieces and nephews know that they could possible be carriers of the SMA gene and need to be concerned that they too could have a child with SMA if their spouse also carries the gene.
After our appointment, we got to try out our new adaptive stroller (on loan to us from the Birth to Three program). This stroller is AMAZING. Due to Alexander’s hypotonia, he is unable to sit in our regular baby/toddler stroller. He essentially hangs from the strap that buckles between the legs. Small umbrella strollers are also harmful for kids with SMA, as it does not offer support, and they sit crouched over unsupported. This new stroller keeps him sitting upright and offers a lot of support. It also tilts in space and allows him to recline if he gets tired and needs to rest.
I am so excited to get equipment that works for him and allows him to be happy and comfortable! A simple adaptive stroller costs thousands of dollars. It is yet another item that you don’t even think about until you have a special needs child that requires so much equipment. We took him to the mall, and also to eat at Cheddars. Going out to eat had been getting quite strenuous for me. He could not sit correctly in the booster chairs that restaurants provide, which means I would wind up holding him at some point. With this adaptive stroller, we rolled him right in and up to the table. It worked out wonderfully!
This is the first time we sat him in the new to us stroller. The equipment in the background of this photo is all loaner equipment from Birth to three (which is a super awesome program!). The front piece is a mobile stander, and behind it is a hand me down wheel chair. Any ideas on how to cover the previous child’s name, which is stitched on, is welcome.
Here we are sitting comfortably at the table at Cheddars!!