March 5, 2013

March 5th… Really? It’s hard to believe that Spring will be here before we know it. I am certainly looking forward to seeing flowers blooming in my garden, but I am already feeling a twinge of nostalgia for my cozy fireplace! I am really not into goodbyes. Not to worry, though, you are all accustomed to my love of seasons. I will be singing a happy song about the marvels of Spring in a month or so! And incidentally, my front yard looks like a beautiful snow globe today, so perhaps my nostalgia is a bit premature?

Anyway, you may remember that we had been pursuing an appointment in Akron with a neurologist who specializes in mitochondrial disease. We began this extensive process in early December, tactfully badgering them every so often in order to remind them of my case. But after over two months of back-and-forth correspondence, on Valentine’s Day we received the answer that Dr. Cohen will not be offering me an appointment, largely because I am 21 years old, and, if I would ever need to be inpatient there, Akron Children’s Hospital is pretty gung-ho about enforcing their age limit when it comes to admitting. Ugh, really? Did they not realize I was 21 when we first submitted my application approximately an eternity ago? And even so, considering the fact that “Alice in Wonderland”, “Mary Poppins”, and “Winnie the Pooh” all fall easily within my top ten favorite movies, doesn’t that qualify me for exemption from growing up? Can someone please make that a law? It’s tough having predominately pediatric illnesses when you are technically an adult.

So yes, I was rather disappointed. However, the members of Dr. Cohen’s staff whom we dealt with were actually very kind, and, considering that I am not even a patient there, they were more helpful than I might have expected them to be. The nurse recommended that I return to Cleveland Clinic in order to have my case reevaluated by Dr. Moran, a geneticist whom I saw in 2010. Dr. Cohen previously worked at Cleveland Clinic and continues to send some of his puzzling cases to Dr. Moran.

I spent a fair amount of time in Cleveland, and it was a horrible bust in my estimation. The first doctor I saw there also served as the coordinator of my other appointments at the clinic. To put it kindly, he was pretty much a schmuck, and I am fairly sure that he tried to push me through the vast system at Cleveland Clinic without much consequential investigation regarding my illness. But Dr. Moran was one of the only doctors there who gave my illness the serious consideration that it warranted. Last week she was kind enough to have a conference call with us. Dr. Moran believes that my exome sequencing that is currently being run through the HLH clinic in Cincinnati might prove to be helpful if it could be interpreted from a mito standpoint as well. We have contacted the HLH clinic, so they are trying to determine whether or not this is possible. Dr. Moran also thought I should be evaluated by Dr. Cohen, the doctor I had hoped to see in Akron who referred me back to Cleveland. Did you follow all that? Because it feels like a pretty confusing circle to me! But Dr. Moran said that Dr. Cohen owes her some favors, so she would try to pull some strings. Should I hold my breath?

And that’s the present status of this saga. Everything seems completely out of my hands right now, a very humbling reminder that, as much as I try to discover the best plan for my treatment, my vantage point is limited. And when my intentions don’t follow through, I am all the more thankful for my faith in God, giving me comfort that His plans are revealed in His perfect timing.

Last week was quite busy for me, as I had to go to St. Louis two days in a row for clinic. First up was my GI appointment. Dr. Rubin is very kind and sensible, and I am so fortunate to have her as my doctor. Our appointments are always frustrating, though, as we seem to be at a continuous standstill regarding my stubborn belly problems. So I wish I could report that we made some revolutionary progress, but that just isn’t the case at this time.

And then I had my visit with Dr. Wilson at Children’s. Really I think you would have to meet him to know what a pleasant person he is. I think he’s pretty much the perfect pediatric hematologist/oncologist. He has a very calming disposition, a quality that is most appreciated among doctors, especially those with such a critical speciality as his. Since the beginning of this year my blood counts have been very poor. My hemoglobin has been hovering a bit above the level where we would transfuse. It’s good that my levels haven’t take a sudden hit because obviously it is best to avoid transfusions whenever possible. But at the same time this drawn-out lagging of my blood cells has been quite literally exhausting, to say the least! But I am hanging in there! We went into our appointment with our laundry list of things to discuss, which is pretty typical, and he patiently brainstormed with us. Since our plans to get me to a mito neurologist have just about fizzled, we are trying to determine our next best option. If Dr. Moran cannot arrange an appointment with Dr. Cohen, we are considering either contacting my wonderfully sweet and helpful hematologist/oncologist at Johns-Hopkins to see if he knows of an exceptional mitochondrial disease specialist, or taking me to the NIH in Bethesda. But this is just some preliminary scheming, we really have no clue which direction is ideal. But Dr. Wilson is committed to help me find a doctor to fill this missing slot on my medical team. He believes that somewhere there is somebody who has a vested interest in researching the connection of the many facets of my illness… We just need to get me to the right place!

But despite these uncertainties, naturally there has still been much fun to be had around here.

Once upon a time, I was 18 years old, graduating high school, with everything in line for me to attend Lindenwood University, followed by veterinary school at the University of Guelph in Ontario (Remind me to thank my parents for not naming me “Guelph”… A rather unappealing word, no? It makes my Eustachian tubes tingle.). But life happened, my health declined, and college just wasn’t possible at the time. So my graduation money went towards the very satisfactory purchase of a sewing machine. I found such enjoyment in teaching myself to sew, marveling at each and every nuance of my newly beloved craft. And then life happened (Again… It was a rough year!), and I lost the use of my right arm after an ill-fated procedure. And so my sewing went by the wayside. Until about a month ago. I am delighted to report that I am now a one-armed seamstress! Not only that, but I sew better with my left hand than I did with the help of its right-side counterpart. This past week I have been making myself some technicolor pajamas. I have come to the blissful realization that, with the ability to fashion my own clothes, my lifelong battle with those pesky armpit wedgies may be over. Oh, and I created Anne Hathaway’s dress for the Oscars. Just kidding. I can sew better darts than that. I expect to be hearing from Anne’s people requesting my design services for next year’s award season. Any day now.

And speaking of stars, my little celebrity Alice Eloise is still reveling in her “Daily Puppy” fame. What an exciting surprise that was! I find her to be quite the charmer, but I am probably biased. I am so very blessed to have such a lovely friend with me everyday! She makes my little corner of the world much brighter. We have such fun learning new commands! She recently learned to “say her prayers”, an adorable trick I first saw in Florida, where I have a sweet therapy dog friend, a Labradoodle named Sasha. Next up, I am trying to teach my Doodle to jump through a hoop! It took her months to figure out that she could jump on my bed, so a hula hoop will be an interesting challenge. How is this applicable to her career as a service dog? Well, it makes me smile, and I believe that is a fine service indeed! As for Alice’s Grammy? Well, Mom got ahold of the hoop yesterday, and I caught her hula-ing to her heart’s content… As you could imagine, it was a sight to behold. Maybe I should hide that hula hoop.

Thanks for checking in. I really appreciate your taking the time to follow along with my crazy journeys and my silly musings!