We are home! We are home! And everyone is doing fine. Gwendolyn is such a trooper, but she definitely had enough of being poked and prodded and beamed from ear to ear as we marched out those hospital doors — in a Dorothy dress no less and with new toys and balloons. (Thank you Lunt and Gooden families!)
The great news is the issues seem to be a combination of relatively minor problems. But, SMA stinks — really stinks. Because SMA is a degenerative disease, the gift of time means Gwendolyn is faced with new issues as SMA impacts more areas of her life. And because she is now bipap dependent, all her energy goes to breathing and she no longer has much capacity for anything extra. It seems Gwendolyn now has a neurogenic bladder meaning her muscles are no longer strong enough to fully empty her bladder causing chronic infections. She's had urinary tract infections many times and while they definitely impact her strength, she always felt much better within a day of taking antibiotics. But they are starting to become more frequent and the doctors believe she is now having constant infections due to urine remaining in her bladder. Gwendolyn's pain threshold has always been really high and because she cannot verbalize it is often difficult to tell. And she never spikes a fever. So, the plan is to have her on a targeted antibiotic — Furadantin/Nitrofurantoin — all the time. While we don't love that Gwendolyn will be on antibiotics all the time, our hope is that ultimately this may mean she will regain some respiratory strength once she is no longer coping with constant infections. The other option is to catheterize her to allow her to urinate. We do not like this idea at all because Gwendolyn has never been able to be catheterized. They have tried multiple times and either due to SMA causing low muscle tone or due to an anatomical abnormality, it is has never worked — and it hurts. If far more qualified nurses can't do this, how in the heck are Bill and I going to do this at home. So that is out. The really good news is that her kidneys and liver look good and they don't think she has scarring from the multiple infections.
Gwendolyn has also been having nose bleeds lately and we have been suctioning blood from her throat and removing ginormous dried blood plugs from her nose — so big that they were certainly causing breathing trouble. We were worried this was being caused by constant bipap use (which we've always been warned can happen). Dr. Yuan wanted a scope done by an ear, nose, and throat specialist right away to find out and the really great news is Gwendolyn's nose does not have any long-term trauma. We were so relieved. She does have a small cut in one nostril, thus causing the bleeding, but this is expected to heal with time.
There were a few other concerns and Dr. Yuan is always so up on all the bigger picture things going on with SMA that we had those looked into as well. It seems Gwendolyn may also have some hormone imbalance issues, but there isn't a lot known about the cause. One theory is that SMA children are under so much stress 🙁 But in the scheme of SMA concerns this is on the back burner and there isn't anything we can do about it anyway. Because SMA Type 1 children are now living much longer (thank goodness), many issues are occurring that are still unstudied — but as more children have them they are starting to seem SMA related. It is always interesting being in a research hospital of the caliber of Stanford. As these things come up they rarely dismiss them and instead ask questions, discuss as a team, reference findings and discussions with SMA colleagues at other institutions, and several times we heard, “We need to study this.” We have such enormous respect and appreciation for the people who dedicate their lives to caring for others and helping solve medical puzzles. (Interestingly enough, there was a research report around urinary issues on children with spinal muscular atrophy done in 2001. The sample is small and the children were older than Gwendolyn, but doctors pointed to it when talking about what is going on with Gwendolyn's chronic infections.)
We are all doing fine. Really. We're exhausted and are taking turns catching up on sleep, but SMA certainly gives one perspective. This was nothing — a minor blip in comparison to what so many other parents are facing. We knew we were in good hands at Lucille Packard and so appreciate how everyone there treats us and Gwendolyn. And we feel so very supported by all of you. Thank you so very much for caring about Gwendolyn and our family. We read every comment, every email, every text, every facebook comment and your kindness truly helps. Thank you so very, very much!