So what’s a big kid like me to do? I continually find myself facing the dilemma that the pool of mitochondrial disease specialists is dismally minuscule, with most of those doctors only accepting pediatric patients. To be completely honest, this “waiting game” we have been playing for so long while searching for a treating mito doc has just about tested our patience to the max!
Certainly it would be best for me to take a breath, be still, and relax, knowing that God has mapped out a perfect path… Many times I have seen proof that He can make anything beautiful in its time; so as impatient as I may feel, I can be confident that the outcome God has planned will be well worth the wait.
And after a whole lot of waiting, by George, I think we’ve finally got a plan! I had heard talk of a new mito clinic in the works at Cincinnati Children’s Hospital, which is where my HLH clinic is, too. In fact, their genetics lab is currently running exome testing on my parents and me, looking for a mutation that might explain why I have HLH. Exome evaluation can be quite helpful for a mito diagnosis as well. So one day, Mom decided to call this mito clinic to find out when they would begin seeing patients. And by golly, Dr. Huang, the director of the clinic himself happened to pick up the phone! He couldn’t have been more friendly, asking if he could be of assistance in any way. Instead of redirecting the call as we might have expected, he handled our inquiries with genuine concern and interest. Mom told him that I was an HLH patient with symptoms highly suggestive of mitochondrial disease, which he found to be intriguing. And when Mom asked the determinate question about whether or not he would treat a 22-year-old, we were so relieved when he answered that my age would not pose a problem!
As of yet we are unsure whether or not Dr. Huang even has access to the pending exome results, but if he is allowed to interpret them from a mitochondrial standpoint, they could prove to be extremely insightful. And even if Dr. Huang does not evaluate these particular test results, as a mito geneticist he likely could counsel us regarding the best genetic testing available; amazingly genetic research is progressing at a considerably rapid pace. With our ever-growing list of unanswered questions, including the increasing severity of my paralysis episodes following procedures, we are hopeful that improved testing may be able to provide answers.
Dr. Huang informed us that someone from his office would soon be in touch with us in order to schedule an appointment. We had a tough time waiting during the couple of weeks that passed before we received a confirmed appointment date, but I am so happy to report that the wait is now behind us… I will be seen in Cincinnati’s mito clinic on May 22nd! Yep, you read that right, my appointment is only five short days away! And bonus, I have a meeting with their palliative care team on the same day! Can you tell that I am totally psyched?
I have long been searching for both a mito specialist and for a doctor with knowledge to safely address my pain. In my experience, Cincinnati Children’s has proven to be a great hospital, and it would be an incredible blessing to have a team of doctors there working together on my behalf. To my mind’s eye, this seems like a surefire plan. But more importantly I am praying for perspective from the Lord as He continues to lead me along this often confusing path.
When I visited Cincinnati last Fall I enjoyed a lovely outing to the zoo there! The zoo grounds also house a beautiful botanical garden, and I can only imagine how majestic it must be in the Springtime!
However, I might just have to pass on such splendor this trip. Since my appointments will both take place on Wednesday morning, I am hoping to travel home straight away if time allows. This would be a lot of activity in such a short timeframe for me, but you see, Wednesday happens to be little Miss Alice Eloise’s 2nd birthday!
I can hardly believe my baby is a toddler already… How does that happen so quickly?! I would love to celebrate with her on her birthday, but if we are unable to return home that day, I have a feeling Alice will understand. That would just give us another excuse to extend the celebration indefinitely! And should I be detained in Cincinnati, I have no doubt that Alice would have a blast slumber-partying it up with Aunt Krista, Uncle Tim, and Cousin Lulu!
Incidentally Alice Eloise and I have been aiming to make the big step from “in training” to “official service dog” status around her 2nd birthday, and I am thinking she may just achieve that goal! Recently we have done a bit of work with an excellent local dog trainer, and Alice has progressed by leaps and bounds. She is working hard for that promotion! There are not very many laws regarding service dog certification, especially for self-trained service dog teams. However there are some guidelines presented in the form of a “public access test”, so we are shooting to take this test in the next few weeks or so!
I look forward to the day when Alice Eloise will come along on my medical trips, but I fear that a 5+ hour car ride to Cincinnati right off the bat might cause a relapse of her car anxiety. We haven’t needed to take a pretend field trip in the driveway in ages! But to be quite honest, a make-believe concert in a stationary Volkswagen bug can be a fun adventure! The last real concert I attended was a Britney Spears performance circa “Oops… I Did it Again”. I remember sitting next to a girl who spoke with a voice that, to my phonetically discerning nine-year-old ear, had the inflection of a feigned British accent. She was afraid to stand on her chair and cheer, but oh, I was much braver, boldly ascending to a distinguished stance upon my lofty plastic stoop. I walked on the wild side… I laughed in the face of danger. Until I fell off my chair. Then I felt kind of silly about the whole thing, and have since thought twice before laughing in the face of danger.
I have not been wanting for activity as of late. With a fair balance of chaos and celebration, life has been awfully hectic! I know that my mom kept you posted throughout the wild ride of my recent central line placement procedure. We took the extra precaution of meeting with the anesthesiologist the day before surgery to discuss my peculiar reactions to anesthetics. Upon arriving at our appointment we had the unpleasant surprise of discovering that I had not been assigned the doctor whom we had requested. No siree, instead of meeting with Dr. Nikiel, the kind and caring young lady who assisted with my bone marrow biopsy last year, I was shocked to be seated opposite a grumpy old doctor, with a personality that could make Cruella De Vil look like Cinderella. She rather cavalierly brushed off all of my questions as if I was a fool to be concerned about the strong likelihood of waking from my procedure to find myself paralyzed once again. Mom proceeded to take on the role of a mama bear, while I gritted my teeth and humored the condescending crazy person in the room just enough to get us out of there as quickly as possible.
Thankfully a knowledgable and helpful nurse practitioner was present for the appointment. Although Dr. Nikiel was unavailable for my procedure, the nurse managed to arrange for my other favorite anesthesiologist, Dr. Moore, to help with the surgery. I love Dr. Moore. He is so delightfully quirky. I would highly consider marrying him, but alas, he is already spoken for. You wouldn’t believe how often I have found myself in the midst of just such a conundrum.
And as for the procedure itself? Well, Mom gave you most of the details! Once again I suffered paralysis, this time for about 20 hours. It was a horribly painful and stressful experience, but I am so happy it is behind me! It’s safe to say that I am handling my new central line as gingerly as humanly possible… This line needs to stick around for a very long time. I have my consolation prize from this last procedure, a sensationally beautiful Hello Kitty balloon, still flying high in the family room, and it’s the only memento I desire from such trauma, thank you very much!
Aside from the pandemonium, Springtime brings quite a lot of jubilation at our house! I am finding such joy in watching my new garden come to life! Peonies are my favorite flowers, and earlier this week I had the pleasure of walking outside to find my very first peony bloom happily “shoosting” up toward the sun and the sky, as my dear Green Acres friend Lisa Douglas would say.
And to add to the joy, Krista and I have our birthdays in April, and Tim and Alice Eloise have theirs in May. Krista was sick on my birthday, and Dad was out of town, so I enjoyed a perfectly lovely, low-key day with my favorite Double Doodle. A major highlight of the party was a most enchanting rendition of a little ditty you might be familiar with. I can vouch for the fact that no one performs “Happy Birthday” quite like my mom and Aunt Janet! Oh, and I also launched this dandy blog, which I am very much delighting in!
And if such a birthday sounds rather vanilla, don’t you worry your pretty little mind about me. My parent’s wedding anniversary falls on Cinco de Mayo, so we had a fiesta of fantastical proportions! And Krista, Tim, Alice Eloise, and I all blew out the candles on the flan a magical moment that I captured with the video camera I received as a birthday gift!
I have yet to read the camera manual, I haven”t the slightest idea how to edit videos, and I am in desperate need of a tripod. But I feel that with this raw footage, the viewers can almost imagine that they were really at the fiesta!
If you would be interested in utilizing our videography or singing services for a wedding or other special event, please leave a request in the comment field below!
And I saved the most momentous occasion for last. Mother’s Day presented both festivity AND fiasco. Lest you begin to worry when you read the most startling aspect of the day, allow me to preface this story with this statement: Everybody survived. Er, except the frog.
On Mother’s Day, as soon as I woke, my mom delicately informed me that my pet frog, Ellie, had died. (Please, condolence cards and flowers are really not necessary.) It wasn’t exactly a shocker; the average life expectancy of Ellie’s species is five years, and she (or rather, “he”, as we discovered about 14 years after welcoming him into our home) lived to the ripe old age of 17! But on the other hand, it was a bit of a surprise. I had come to speculate that Ellie might just be a teenage mutant ninja frog, and half-surmised that she/he would likely outlive all of us. But Ellie has gone to the big lily pad in the sky! Rest in peace, slimy little friend.
Anyway, Mom, Dad, and I continued the day with preparations for a celebratory feast to be shared with Krista, Tim, Aunt Janet, and Uncle Richard. Krista called me while she was shopping at a local garden center, asking me about some flowers. Then only a short time later, we received another phone call from Krista, frantically reporting the news that Lulu had been hit by a car!
Mom and Dad dropped everything and hurried to meet Krista, Tim, and poor Lulu at the vet’s office, while Alice Eloise and I remained at home, the both of us utterly distressed over the impending fate of our beloved Lulu. In this agitated state I pondered over the frightening debacle of Lulu running into the busy road near the garden center.
Thankfully this interval of disquiet was short-lived. After Lu’s remarkably quick examination and precautionary x-rays, I received the reassuring news that, aside from a slight bit of road burn on her chin, our sweet Lulu was just fine. I learned that the scenario of her accident that had been coursing through my mind was wholly inaccurate. When the incident took place, Krista and Tim had already returned to their home at the end of a quiet cul-de-sac. Lulu saw a dog across the street and made a dash for it precisely at the unfavorable moment when a little old lady happened to be slowly driving by. Upon impact Lulu took quite a tumble, but believe it or not, she actually fared better than the car! Don’t let the froufrou name fool you, Lulu is a tough girl! We are so fortunate that the mishap wasn’t any worse. The thought of it all makes me want to hug my own baby extra close, thankful for her safety!
And, aside from a slight delay, the Mother’s Day feast went on exactly as planned. Prior to the crisis most of the meal arrangements were well on their way. I even had the dining room table adorned in my tea party best, flowery linens, dainty china, and all!
Undoubtedly this unconventional holiday will live on in our memories as “the Mother’s Day when the frog died, Lulu was hit by a car, and we still managed to get a perfectly splendid dinner on the table”, a very noteworthy day to be sure. Here’s hoping Father’s Day is MUCH less eventful!