We hope the new year has found all our friends happy and healthy and looking forward to the future. We are looking ahead to a year full of good changes for our family!

February 28, 2019, is the one year anniversary of Emmett's diagnosis with Spinal Muscular Atrophy.  It is also - very coincidentally - Rare Disease Day.  Upon our request, the Governor signed a Proclamation recognizing Rare Disease Awareness in Vermont.  As if this day wasn't already meaningful enough for us, this morning Vermont's legislature officially approved the Vermont Department of Health adding Spinal Muscular Atrophy to the list of conditions all newborns are screened for upon birth.  This means next time a baby with SMA is born in Vermont, its parents will immediately know of the diagnosis and be able to access life-saving treatment, without having to endure the horrible journey of watching symptoms unfold and the sometimes long road to an accurate diagnosis.  Thankfully, many states across the country are taking similar measures, now that a treatment is available for SMA.  However, not all developed countries have approved use of the life saving medication; this is disappointing, because SMA affects all populations at the same rate regardless of nationality and/or economic class. 

Suddenly joining the community of SMA and other special health needs families a year ago has certainly shaped a new path for us, and thrust us into a world we never truly understood before. This past year has brought immense personal growth to us both, while it's hard to believe a whole year has already passed it is also difficult to recall our lives without SMA.  Reflecting on what we experienced as parents last winter sometimes seems unreal.  Immediately following Emmett's diagnosis, shock, despair, grief, and confusion filled our days; it was more than most anyone could process, and we could not fathom what the next year would bring to our family.  Prior to February 28, 2018, we had a vision of what our life would be like, and not knowing at all how your story plays out is an uncomfortable place to be.  Now we understand the joy that can come when you eliminate certain expectations.

Our hope for Emmett had been that he would be able to hold his head up once again, and maybe comfortably and safely sit up in a seat some day.  We thought he would never be able to eat food again because of his weak swallow muscles, that he would have to be admitted to the hospital for every cold and respiratory ailment he encountered, and that he would always be choking on his own secretions.  Now, after only six doses of Spinraza (the sixth was in December), Emmett can typically hold his head up on his own, and can hold himself sitting completely unassisted for up to ten minutes at a time when healthy and rested.  He has encountered a few colds since his diagnosis, but we've been able to get through all of them by increasing the level of care he receives at home, and have avoided any hospitalizations so far.  His respiratory health has certainly been tested with these sicknesses, but the way his body reacted is proof of his increasing strength.  Every evening, we all sit at the dinner table and enjoy eating together as a family.  While he still gets the majority of his nutrition and calories via his feeding tube, Emmett loves eating food orally.  As such, when he's healthy he also eats a pureed version of our meal - chicken enchiladas, steak and potatoes, pasta and sausage, etc.

Now that Emmett is 19 months old, we're turning our focus to getting him independently mobile. He was accepted to participate in the Go Baby Go program at Saint Michael's College, where engineering students modify ride-on cars for kids with disabilities to help them get around independently.  (It's an inspiring program that you can find out more about here and here.)  He will also begin using a stander soon to get him upright for periods of time (this is essential, and comes with certain health benefits), and we're also looking into assistive communication technology for him.  There is no reason to think Emmett won't be able to communicate verbally (he already does typically well for his age), but while he's in this toddler stage of not being able to fully communicate all his wants and needs, assistive technology will be able to benefit him more than other kiddos because, unlike a typical toddler, the poor guy isn't able to just cross a room to get for himself the things he wants.  Emmett greatly relies on others to understand what he's communicating at all times, so we're looking into ways to support him until he has a full arsenal of clear words.

A benefit of understanding most of what Emmett is talking about now is realizing just how much he loves his sister.  Emmett is constantly talking and asking about Hannah when she's not around!  Even when he wakes in the middle of the night we need to explain to him that Hannah can't play because she is sleeping (and so is the rest of the world, so go back to sleep Emmett!).

We're hoping that the next few months will bring us continued health, another Spinraza injection in April at UVM, a trip to the Boston Children's Hospital in May to meet with many specialists at their SMA clinic, and a chance to enjoy some warmth and sunshine.  Fingers crossed for Spring!