We have been doing a lot of this after our trip up to Stanford this week. Gwendolyn deserved some relaxation — we all did. So a few days swimming in Carmel is just what the doctor ordered.
This visit to Stanford was a follow up to our visit in March — which was a follow up after her hospitalization in February. Back story: Gwendolyn has been dealing with some very severe episodes that cause sudden stomach cramping, discomfort, clammy and flush skin, high heart rate, low O2, panting, lethargy, and, sometimes, full blown attacks that make breathing extremely challenging. These episodes started some time ago but over the last year have grown increasingly frequent and intense. We have been consulting doctors during all of it and after her hospitalization and visit to Stanford in March have been systematically ruling things out. Over the last year, we've treated for constipation, bowel blockage, gas, allergies… completely changed her diet, given new medications, and tested for pretty much every possible thing that could be tested.
Gwendolyn is doing really well otherwise. In fact, her year has been incredible (need to blog about all the awesomeness). But these episodes really impact her quality of life. They are scary. They are painful for her. And they make going to school full time and living her life the way she wants to live it very difficult. We want to get to the bottom of it.
The problem is doctors really don't have a lot of answers for us. The reality is children with SMA are living much longer now with breathing and feeding support and improved quality of care — a wonderful thing. At 6 and 3/4 years old, Gwendolyn is a miracle but her longevity is not entirely uncommon in the SMA world anymore. We know and love many families just like ours. Length of life for a Type 1 SMA child is still extremely tenuous and fragile because of the SMA diagnosis — don't get us wrong. But if interventions do actually help lengthen lifespan, so too are new medical issues arising — issues that were not recognized previously simply because not enough children survived long enough to see a real pattern.
So… for the last several years we have brought different things up to doctors and been met with, “Hmm, we aren't sure. We hear about this issue but…” The kicker is chronic illness causes all sorts of issues so there are lots of “typical” things doctors immediately think of as problem sources because of Gwendolyn's lack of movement, lack of muscle tone, inability to sit up, etc. etc. — but, sometimes, those “typical” things are not even remotely close to what she is dealing with and even when our gut instinct is such we have had to eliminate the basics first. We have had a lot of homework, tests, observations, and ruling things out over the last year… two years, really. It is often very frustrating. We just want to alleviate any discomfort for our sweet little girl. Gwendolyn is guiding us as best she can, but, often times, we feel we have failed her.
This week's visit did bring some possible answers — though not great news. After all the ruling out, the current thinking is that Gwendolyn is having autonomic “storms” (also has various other names). In layman's terms, the part of the body that regulates key organ functions and the fight-or-flight response, the Autonomic Nervous System, has excessive, uncontrolled “storming,” producing all the characteristics of the bodies stress response, while the portion of the ANS system that usually aids in relaxing the body is under-functioning. The dangers of autonomic storms are potential brain damage, fatal heart attacks, and cardiac and organ damage. Not great. Not great at all.
This is one of those newly observed issues within the SMA community but there is not yet a real understanding about it. Even among other diseases and conditions (ALS, spinal cord injury), autonomic storms seem a bit of an anomaly. This means the treatment is not clear cut. We may give her beta blockers that may help lessen the severity of an episode but we have to figure out the correct dosage over time. There is also a thought that something is “triggering” the storms so if we can find the trigger then we can potentially alleviate the reaction. But that something could be anything from urinary retention to tight clothing and many thing in between. We are now working with a leading SMA neurologist to navigate next steps. As always, we so appreciate hearing from other families going through this too so please email us with any advice. Gwendolyn will continue to have these storms as we make our way through all of this — and that is disconcerting to say the least.
We are feeling a bit deflated. On one hand it is good to have a direction. But this isn't really the direction we want to face. Bill and I try really hard to live life with SMA as the backdrop, not the definer; to give Gwendolyn and our family typical experiences; to be brave and take advantage of the precious moments we have been gifted. Adding more instability to an already precarious situation does not make that easy. These episodes over the last year have been extremely challenging on all of us and we worry what they will do to Gwendolyn's spirit (in addition to health). We are not surprised by the autonomic storm diagnosis — it is something we have been talking about for a long time. In fact, this is the type of increasingly common but under-studied SMA research we hope our Emerging Investigator Awards grants will help to provide more understanding. It just feels a bit overwhelming the add more worry to an already overflowing list.
What we do know for sure is Gwendolyn is amazing. Truly incredible. She is brave. And courageous. And extremely patient and forgiving. And, all the while, she wants nothing more than to be with her friends at school doing fun things that any 6-year-old wants to be doing. With all she has been facing this year, it truly is astounding. She really is the strongest person we've ever known.
On a plus side of the Stanford visit, our big girl is now over 4 foot 1! A giraffe!!! Little Eleanora made herself right at home with Dr. Yuan, licking her stethoscope and pulling her hair. And we got to see our wonderful friend Cherisse (mom to Lucy, SMA Type 1) briefly for lunch.
Thank you for your continued support. Knowing that Gwendolyn is blanketed with good thoughts does lift our spirits.