As usual, the nerves set in the night before wondering if we will get any answers. My last appointment was back in July and a lot has happened since then. When I get nervous, I notice I talk a lot. About very random things, just keeping my mind occupied. My apologies to my husband... thank you for your patience! Time for a deep breath to let the worry out and the calm in.
|Driving to the appointment|
The day before my appointment at UCSD I received an e-mail that read, "We still don't have your results but you can come see the doctor anyway." These are results from a muscle biopsy that we have been waiting on for months. I already had appointments canceled and rescheduled because we have been waiting for these results. All of our hope for answers lies in these results. We decided to go to the appointment anyway...
We headed out for the appointment bright and early, unsure of what the day would hold. We took in all the beauty around us and enjoyed just driving down together. Watching the sunrise kept me calm.
We met with the doctor and witnessed a miracle... in walked the test results! (they were dated last week so I'm not sure why they thought they weren't in yet) I guess it was more dramatic this way :) The doctor looked over the papers and was quite confused. He handed them to us and we looked. I searched very hard for a single word that I might understand... I couldn't find one. Anthony asked for an interpretation and that's when our bubble burst. The doctor said that the results are difficult to interpret and it is still not clear what is going on. The genetic abnormalities I have still don't make sense. We know that my mitochondria are malfunctioning but we can't figure out why. We did more blood work and will have further testing done but we left the office visit so confused. Not a waste of time like we originally thought because those infamous results did come in but we felt deflated. Now what?
The very next day I had my appointment at Children's Hospital with the muscle clinic and MDA. We held on to the hope that this neurologist would be able to figure it all out. First we met with Jessica. She is beyond awesome. She is the go to gal that gets it all done. Next came Rick who delivered my motorized chair. He wanted to make sure everything was working out well. After Rick, we met KC, the physical therapist and then a social worker came in followed by the geneticist. I wanted answers. I know I am sick, they know I am sick but I really need to know why. My reasons for needing to know are 5 years old and 7 years old. I need to know if I passed this genetic disease on. Unfortunately, the geneticist could not give us any answers. It is still unknown if I spontaneously acquired this or if it was passed down from family members that carry the gene but don't have any symptoms. Because my test results always come back funny, we can't get a definitive answer. I almost started crying at that point but I held it in. Jessica came back in and told us more of what the MDA has to offer. She asked what kind of activities we enjoyed and I told her I like sitting at home because that is all I am comfortable doing. So she asked what we did before I got sick. We told her about our boating, waterskiing, camping, hiking beach going days. I got a little teary eyed thinking about what we used to. She told us that there are many places we can go and activities we can do that are adaptive. I don't have to give up my lifestyle because of my muscles. Then, she asked how the kids and my husband were handling all of this. That is when I lost it. They are handling it great, they really are but they have had to give up so much and I didn't realize it until we talked about what we used to do. We were so active and personally, I am still ok with the fact that I can't do what I used to be able to do. But realizing the kids aren't getting to do what we used to do hit hard. So hard that I kept crying, wiping my tears away with my shirt sleeve just for another flood to come down. I calmed down, took a deep breath and the doctor came in. Come on doc, give us some answers. Nope! He said that my other neurologist that I saw yesterday is an internationally renowned mitochondrial specialist and if anyone could interpret and understand my results it would be him. He did however give me a lot of hope. Whether he filled me with hope because Christmas is in a few days or because he honestly believed it, I listened. He feels there is a possibility at arresting this if we can find the right cocktail. He would like another biopsy done to see if we can get a clearer picture. So for now, we wait. We wait to see if things get better with all the medication and therapy. Or we wait to see if the disease progresses and gives us a clearer picture. You may just see me on Mystery Diagnosis.
I have more love than I could ever have imagined having. I have so many prayers that I am so grateful for. I have a beautiful, blessed life that I am lucky enough to share with amazing people. I am grateful for the good health that I do have. I don't have answers but it just means it is not time for me to know. I went into these appointments this week looking for a Christmas Miracle and I arrived home realizing my miracles were right there in front of me.
I wish you all a very blessed Christmas with your loved ones.