Monday, May 16, 2011

Part 1: Diagnosis

May16. The anniversary of Cooper's diagnosis which in many ways feels harder to deal with than his death. It seems appropriate to start posting "Philosophy of Care Video Script" responses today because it is in essence the beginning of a chapter, diagnosis day.

See post "Conference Abridged" for background on Philosophy of Care Video Script 

After the shock of the diagnosis, how did you come to understand it and what to expect?
The shock of diagnosis was just that, a shock. Honestly at this point we had prepared ourself for some type of physically dibilitating condition or chronic illness, maybe Cooper would need in a wheelchair, or ongoing therapy. The idea that he might have something terminal did not even enter our minds. Death was not on our radar. Immediately after Cooper's diagnostic MRI, before we had even left the hospital, the neurologist called to set up a consult as soon as possible. The urgent yet evenly collected overtones in his voice caused my heart to plunge into the pit of my stomach, trailed by a deafening silence. My mind filled with thought bubbles, like the gophur hunt game at a children's arcade trying to hit one on the head and another pops up elsewhere, questions both exponential and revolving. The very next day I remember checking in for the consult with David and Cooper, but instead of being led to an exam room we were shown to the neurologist's personal office. He asked us to sit down and then my mind goes blank. I can't remember his exact words, only that he handed us a box of tissue and said he was going to step out to give us a moment. Before we left his office, we were scheduled for a follow up appointment with a geneticist who would provide further explanation of the disease, and what to expect. That next appointment lasted almost four hours and was much like a cellular biology break-out session amid an anatomy physiology workshop. We certainly had a foundation for understanding lysosomal storage disease and GM1 after that, but it still didn't feel real. If there is such a thing as an out of body experience, that was it, surreal and mind numbing.

Questions about coping with diagnosis?
Internet, internet, internet. My first instinct was to delve into research. I guess this in some ways constitutes denial. I was certain that someone out there had the answer. If our doctor here didn't have a cure, surely there was a researcher in another state, another country. It was uncomprehensible that our baby, who didn't look like he was dying, might only live one or two years. Of course we were ready and willing to do anything, travel to the ends of the earth, whatever it took to give Cooper the long and happy life he deserved. The reality that we couldn't "fix" him and the fact that a cure really didn't exist was crushing, but we knew every stone had been turned and all possible avenues exhausted. It was then, and only then, that we were able to focus on the present. Our son was still with us in that moment and we needed to put our best foot forward for him, one step at at time.

Which doctors were most helpful?
The geneticist was helpful in terms of explaining what was happening physiologically and providing textbook version of what could be expected. In hindsight, I wish we would have consulted the pediatric palliative care doctor at this point instead of waiting until Cooper started experiencing challenges due to progression. Our palliative care doctor (and team) was most helpful with navigating day to day needs, challenges, support, and even medication changes that went hand in hand with progression which never seemed to occur duing business hours!

How did NTSAD help?
NTSAD was the first organization we reached out to and I am so glad we did. When facing a rare disease it's easy to feel isolated, hard to find someone to connect with and even harder to find someone who's gone through it. Most doctors have never seen a child with GM1 or allied diseases and medical textbooks don't acknowledge the realm of daily living skills necessary to cope much less function. NTSAD was able to put us in contact with other parents who have been down this road, some with children who were living and some who's children had passed. It was so beneficial to have an opportunity to ask experience based questions and have a network of parents for support.


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