Friday morning I received a call from the neurologist’s office that they had received the results of the blood work. This was about 2 weeks ahead of what we were expecting and I was caught off guard. We had allowed ourselves to think positively and had a few days of emotional distance from learning that there was actually a problem with Ezra’s health. Our future was about to be laid out before us. I was a nervous wreck.

The day seemed endless as did the drive to Portland, and the wait in the waiting room. Finally it was time. The prognosis is not good. In fact, it is far worse than Ethan and I had ever allowed ourselves to think. We had been preparing ourselves for possibly building ramps in our new home and making the space wheel chair accessible. We wondered what Ezra’s social life would be like and if he would ever have a girlfriend…

The doctor told us that the positive result was for Spinal Muscular Atrophy. Ezra is missing an important gene called the Survival Motor Neuron and without it, he will likely not live past the age of 3. It is a disease that causes weakness and wasting of the voluntary muscles in the arms and legs of infants and children. There are a few types of Spinal Muscular Atrophy (SMA) and the types tend to correlate with the age of onset. Ezra’s is Type I and carries with it the worst prognosis. The literature says that most babies die within the first 2 years and there is currently no cure. This type will affect his respiratory and digestive systems and he is at high risk of developing pneumonia. It is very likely that one night our sweet boy will go to sleep and not wake up. The doctor said it is generally a painless disease and tends to sneak up on the baby, so it should not be a long, drawn out scenario.  There is an informative family support website that provides lots of good information about care and some of the tough decisions we have in front of us. We are definitely hoping to visit Boston Children’s Hospital to have another set of eyes assess Ezra and possibly learn about some of the experimental trials they have for this disease. Our next step will be meeting with pulmonary doctors to learn more about the respiratory condition. We hear him trying to cough and he does wheeze a lot. Honestly, it breaks my heart.

Speaking of breaking hearts, it goes without saying how much pain, shock and sadness Ethan and I- and our extended family of relatives and friends- are feeling right now. I know I said it before, but Ezra really is such a ray of light. He is smiley and talkative and I simply cannot picture our family without him. I can’t imagine our Daisy without her little partner in crime. Anyone who knows Daisy, knows how much she LOVES babies… and her brother is at the top of her list. As our world seems to be crumbling around us, Ethan and I know we have to somehow hold it together for her. She needs us to be strong and find a way to carry on. We feel so much love and support from all of you. Every prayer, email, message, text, and hopeful thought in the quiet moments of your day- they do help. While we are far from giving up hope, we also want to be realistic and not sugar coat anything or fool ourselves into thinking “everything will be okay”. We have a new reality and we need to adjust as a family to make it through this most challenging time.

Now please get off the computer and go hug your little ones close.