For the first time in over a year Dan and I feel hope. Not the attempt of hope sprouting from empty positivity, but real hope. Hope is a feeling the lucky take for granted and a term people throw around at a feeble attempt to uplift your spirits or escape their own discomfort. Few understand the desperate need of hope.
After over 14 weeks the results of Cara’s recent test were in and her metabolic doctor’s office called us in to meet with the doctor and a dietician. The minute the word “dietician” was mentioned I already knew what that meant, ketogenic diet. I knew it is a diet commonly used for kids with pyruvate dehydrogenase deficiency and also used to treat epilepsy. I didn’t know the why’s, when’s and how’s when it comes to Cara but we were chomping at the bit to get at that information. It was also mentioned that there is in fact an issue with pyruvate metabolism. Wait, what? Didn’t we just do a test that resulted with no issues in pyruvate metabolism? We received the actual results in the mail and immediately started to get our questions lined up.
We walked into our appointment with equal parts excitement and anxiety. Cara’s metabolic doctor, two residents and a dietician came into the room. After a thumbnail history of Cara for the residents and dietician he dove straight into why we were there. Cara indeed has a problem with pyruvate metabolism but not where they typically see it. He then started to explain to us what this test does. To make a long story short, it takes mitochondria from skin cells and they are able to pump chemicals, observe the entire energy production process within the mitochondria and measure the outputs. The previous test was too specific. Where they suspect the breakdown is has never been seen in a patient by either Cara’s metabolic doctor or the director of the Center for Inherited Disorders of Energy Metabolism at Case Western University (where the test was conducted). We were then introduced to the dietician and walked through a possible treatment. Cara is unable to process glucose into energy. The ketogenic diet will switch her body from using carbohydrates for energy to using fat. This might be enough to provide her cells with the energy they need for normal development. As the puzzle pieces started to fit together in this long and complicated explanation Dan and I couldn’t help but smile. We started to see endless doors of possibilities.
Sometime in the next month Cara will start the ketogenic diet. We will check-in to the hospital for a short stay so that she can be monitored while she goes into ketosis. At this point, we don’t how long the stay will be.
I don’t have the words to describe how we felt when we were told that not only is this diet a possible treatment, but there is a good chance it will work. There is a good chance that Cara may sit up on her own. There is a good chance Cara may stand. There is a good chance Cara may walk. There is a good chance Cara may talk. There is a good chance that Cara may eat. There is a good chance Cara may stop choking on her own saliva. There is a good chance Cara can live a long life.
We are cautiously optimistic. There is always the possibility that the diet wont make enough of a difference and we stay fully aware of that. But, it is something to try. Something to try that could actually work.
The testing and waiting for results is far from over but this is the first time Dan and I can look at each other, thinking of the future and smile. The first time in over a year that the image of two sisters running, laughing and playing brought warmth and joy and not pangs of guilt and heartache. I never let go of these images but kept them tucked away. Now I can bring them to the forefront hand in hand with a belief that this is a real possibility. We can finally sip on what we have been so thirsty for – hope and it tastes so so sweet.