What a week.

Monday Ezra was assessed by the early intervention team and of course, his social skills were off the charts. His case was discussed at the infant staffing on Thursday and we are waiting to hear their recommendations for services. We are hopeful they will include access to a physical therapist who can teach us some exercises to help slow down the effects of the disease with Ezra’s muscles.

Tuesday we traveled to Portland to have a surgery consult. The recommendation is to put a feeding tube in while Ezra is still “healthy” and while his body is more able to handle the effects of anesthesia. They also recommended a Nissen fundoplication, which is basically trying part of the small intestine around the upper part of the stomach to prevent reflux.  This felt like a huge wake up call that the interventions we have heard about SMA babies getting are now happening to our child. Surgery has been scheduled for November 26th and requires at least one overnight stay. After a conversation we had with one of the doctors at Boston Children’s (which you’ll read about later), we have decided to do the feeding tube, but not the Nissen.

Thursday we traveled 3 hours south to the SMA Clinic at Boston Children’s Hospital. We feel so grateful to have access to such a renowned facility and are so glad Ezra got to be seen by some of the world’s best doctors. We did not really know what to expect or get out of the visit, but we both walked away feeling like it was time very well spent. It was very comforting to know that the doctors have seen hundreds of SMA Type I babies. Although we didn’t leave with a bunch of new information (or a way to cure the disease- which would have been nice) we did leave feeling reassured about the way we want to approach caring for Ezra.

As part of the SMA Clinic, we saw a neurologist (Dr. Basil Darras), a physical therapist, a nutritionist, an orthopedic surgeon (Dr. Shapiro), and an ICU doctor with a specialization in respiratory issues (Dr. Graham). Dr. Darras is the head of the clinic and gave us an overall assessment of Ezra. He confirmed that Ezra is indeed an SMA Type I baby given the date of diagnosis, along with a number of other presenting issues. Dr. Darras actually pointed out that Ezra’s tongue quivers- which is a common indicator of the muscles misfiring.  I think we expected more information from Dr. Darras, but we had already had the diagnosis for a while and had lots of time to research the disease. My guess is that his role is often to educate parents about the disease. We did ask him if he knew of any trials for infants going on any where else in the world, and sadly he did not.

The nutritionist spoke with us about how the feeding tube will work and let us know we could call her anytime with questions. Ezra doesn’t strike me as being super skinny or underweight, but we learned that Ezra has dropped into the 2nd percentile for weight. She said it is very common for SMA babies to be in the 10-25% due to their low muscle tone. The consensus seemed to be that the feeding tube will help him feel more energized as he won’t have to expend so much energy trying to eat. The nutritionist also worries that he is aspirating some of the milk he is eating, as he coughs a lot when he nurses. This puts him at risk of pneumonia, which could be fatal for him. Breastfeeding is such a special connection and has been my main way of soothing and comforting Ezra. I am dreading the day he stops. Let’s be honest, there is a lot I am dreading about what is to come, but this in particular breaks my heart.

The last doctor we saw was Dr. Graham- the ICU doc. He was very informative and supportive. We really got a lot out of our time speaking with him and are so grateful he gave us so much of his time. We discussed the different machines and pros and cons of them. We went over the dilemma of starting a machine solely as a treatment and then finding later that the baby is on the machine 24 hours a day because they seem so much more comfortable. Does the parent then need to make a decision about turning the machine off? We really want to try to avoid having to make decisions like that. We discussed whether the Nissen part of the surgery is necessary, if we should do a barium swallow test and the importance of keeping Ezra as germ-free as possible. Dr. Graham reinforced that we will know what is best for caring for our little boy. I find it overwhelming to be making such big medical decisions without a medical background- but ultimately we just go back to our goal of making the time we have with Ezra as comfortable and joyful as possible. I guess that should be every parents goal with their children- regardless of prognosis.

We are planning to return to the SMA Clinic in January.

Ethan and I are so thankful for our friend Josh B, who spent the entire visit with us. Josh is a doctor in Boston and cleared his schedule to be a 3rd set of ears through the clinic. So amazing. Plus, my good friend Kristie (his fabulous wife) made delicious brownies for us to share with the clinic doctors. Incredibly thoughtful.

Also through all of this, we are happy to have Daisy’s 3rd birthday to celebrate. We are surrounded by cousins, and aunties and my good friend Libby came to Maine to make this a very special weekend.  So grateful for the love shared with family and friends…