It has been very difficult to get a chance to sit down long enough to write. I am finding it more and more difficult to collect my thoughts and then to type it out for those reading to understand how we are doing, what Getty is up to, and how life has manifested for the last few years. I think in certain ways too much has happened and so I get overwhelmed with how to cut it up in small posts allow a reader to keep up with life over here. I consume too many cups off coffee in a day, however currently I am on my first cup which is kind of a blessing. My brain is still slowly coming into speed, so I am going to take advantage of the slower processing effects.
Yesterday (July 30th) is the day our DNA was altered eight years ago. It is the day in which all plans, dreams, and hopes, were thrown out the window. It is the day that life became really cruel. New parents given news that there was nothing they could do for their child and if they were lucky, they had about a year, maybe two, so go and make as many memories as possible. Clearly this wasn’t in the plans.
If I just focused on the cruel part for a moment, I would offer the cruelty is in a few aspects. For sure the cruelness comes from the notion that there is even a disease/disorder like Spinal Muscular Atrophy. I mean come on, you have a perfect pregnancy, perfect birth, baby shows literally no sign of worry and then you give a brand new family this news. Yeah man, that is cruel. But aside from the science, I think what is and was most cruel was the offering of the diagnosis itself. While I am not in this doctor’s shoes, I would suggest that the prognosis and execution of the diagnosis could have been less dire. I go back and forth every once in awhile to ask myself, “what would you have wanted to hear from the doctor in order to be content with the delivery of the diagnosis?” I think for me it would have been so “helpful” to hear our Getty’s doctor say this, “Getty has Spinal Muscular Atrophy. I am really sorry to be the one to tell you this. What I want you to know is that while this disorder/disease can have a variable life span, there are things we can all do to give Getty a good fulfilled life. I know you all have a lot to think about and I want you to know that while you are making plans and figuring out what kind of decisions you would like to make, we are here help you with whatever questions you may have. We have a team of doctors here that care for other SMA patients and while this could be considered a rare diagnosis, we will certainly do our best to work with you. Getty is our main concern.”
A little too emotional huh? Yep, I wonder if I am asking too much. I am not in the medical field, so I wonder if a doctor is limited in the way a diagnosis is offered. Okay maybe this would be a better option. “Getty has Spinal Muscular Atrophy, (insert some facts), I know this is a lot to take in right now but…..
You know what I am realizing that there isn’t a right way to have heard it. How do you merge emotion and direct medical information in a way that doesn’t sound robotic or too compassionate? What a hard thing to balance. I don’t envy any doctor that has to offer any kind bad news to a family. However, I would suggest that in the very least this doctor could have offered some kind of hope. Some sliver of light that could offer us some kind of hope. The manner in which it was offered, the diagnosis literally was read verbatim from a medical textbook. Maybe that is what I will probably always have issues with. It was sterile, it was finite, it was without options.
Every single family I have met on this journey has had a similar scenario. They share a similar indifference and frustration. With the emergence of a treatment for SMA I am truly hoping the conversation between doctor and family changes. I hope with the introduction of Spinraza, a new and progressive conversation can happen and a family is offered medical hope instead of being forced to create their own internal hope. Because as long as SMA is not cured, more families will be sitting in a neurology office hearing the words, Spinal Muscular Atrophy for the first time. The shock and utter disorientation of this diagnosis can often be too much to handle. What an opportunity a doctor has now to offer the option of a treatment and a sliver of hope.
To all the SMA parents and adults out there we send you love and hope that today is filled with love and endless amounts of hope.