By George, I Think We’ve Got It!
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!

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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.

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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!

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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!

photo 1-1 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!

Sarah Kathryn Frey

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24 Responses to By George, I Think We’ve Got It!

  1. Janet Pickering says:

    As always, I found your post to be delightfully enjoyable. and equally informative. Having personally observed some of the events, I can attest to the accuracy of your journalistic reporting. Can a Pulitzer Prize be far behind?

    Love to you always, Sarah.

    Aunt Janet

    • You certainly were in on the biggest happenings around here! We live wild and crazy around here, you know.

      I could go for a Pulitzer Prize! Do you think I could swap the trophy for a Lilly Pulitzer dress?

  2. Judy Reese says:

    Sarah, loved your updates and the video! Your fiesta sure looked yummy!
    Have a safe trip to Cincinnati and I hope you get answers/ help from this new doctor.
    I cannot believe Miss Alice is already turning 2! My time flies!!
    Love you! The Reese’s

    • We fiesta-ed it up! I wish I could eat some of that salsa! Yum!

      Thanks so much, Judy! The doctor and staff seem very kind and efficient, so I am encouraged! If it is a anything like the care I have previously received at CCMHC, it will be a highly worthwhile trip indeed.

      I hope your recovery is coming right along! Please tell me someone brought you a balloon?

  3. Yvonne Rieger says:

    Hi Sweet Sarah

    You certainly can brighten my day! Thanks for the update and may God bless you and your family as you travel to Cinncinnati next week. The happy birthday song and your mom’s antics had me laughing out loud!! Thanks for sharing your life with us and I’ll be praying for a successful outcome next week.

    Love and hugs to all the Frey’s

    Yvonne

    • Our silliness came across loud and clear on the video, that’s for sure! I hope that you and your family are doing well. I appreciate your continual love, support, and prayers! Sometime you must visit for a little tea party. You always brighten my day, and I know my mom feels the same way! Sending you love and hugs.

  4. Geoffrey D Mazankowski says:

    You are a strong young lady, bye line two! You are an Incredibly strong young lady in your faith, and you love God. I can tell;) I wish you many blessings, and truly you have some, for the ones you gave to me. Your journey be blessed, and take a cool picture of something sweet to show us. When you return home kk

    • Thank you so very much, Geoffrey! God has been incredibly good to me, as He is to all of His children. I know that even the hard times are blessings in disguise from Him!

      My camera is packed and ready to capture some highlights from my trip to Cincinnati! I will share an update when I return home!

  5. Sue Deist says:

    Love your Blog. Your family dinners sound as eventful as ours are at times! Gotta love family 🙂 Will be thinking of you as you travel next week.

  6. Jo says:

    Sarah, i always enjoy reading our blog. You are a very talented young lady! Praying for good things to come your way!

    • Thanks for following along and showing so much support, Jo! I am very optimistic that this trip to Cincinnati will be helpful. I am trusting God to lead me in the right direction!

      Let me know if you ever apply for a Doodle! You are more than welcome to visit and play with Miss Alice Eloise anytime!

  7. Uncle Terry and Aunt Lesia says:

    Wow! There was a lot of news in here that we didn’t know! The party looks fun and the news sounds good. Sorry to hear about your frog and hope Lulu is ok. I think that was her barking when we walked by, so she must be ok…

    Hope things go well in Cincinnati.

    • Oh yes, life has been crazy around here the past few weeks! Sometime you should stop by for a fiesta, they really are so much fun!

      I honestly think Lulu’s accident was more devastating to us humans than it was to her! She certainly took a hit, but she bounced back! You’d never know.

      Love to all the Freys!

  8. Jeanne Frey says:

    So, sweet Sarah Kate … I am going to have to be a little more reserved and careful when you have that new video camera in hand. I better watch it, or we may just find ourselves as the new reality TV sensations.

    I also found it ironic that you were announcing to the world how wonderful Alice is doing in her training (which I know to be true), only to post a video that shows her totally ignoring your request. LOL Your next video will have to document the many wonders of your sweet Alice … a really great girl and listener.

    You very honestly and accurately depict the craziness of our comings and goings, leaving me to wonder what you will share next. You have always kept us guessing, so that really should not come as much of a surprise.

    Here’s to a great trip to Cincinnati. I am thinking that it is going to be most informative.

    Love you forever and always. Mom

    • Yep, I’m on a mission to actually catch you in action doing a dance on the counters next time. It shouldn’t be too tough knowing how kooky we can be!

      You know what a good girl Alice Eloise is! She was just in fiesta mode! I will have to capture her on her very best behavior and share her charms with the world.

      Thanks for searching high and low, all across the country with me Mama! I think we will find ourselves in a good place at CCHMC. I love you!

  9. Peter Frey & Andrea Martin says:

    Your Mother’s Day table scape is gorgeous! It was nice to see you all in the video. We may be bias, but we love the idea of a video camera birthday gift! Can’t wait to see more adventures. We will be thinking of you guys during your trip in a few days.
    Love to you all,
    Pete & Andrea

    • The video certainly captured our personalities! I bet you felt like you were fiesta-ing with us, all the way from New York!

      I am really enjoying my new camera! I have so much to learn. But I got myself a tripod yesterday, so hopefully the next video won’t make everyone as carsick as the fiesta video did!

      I think of you guys all the time. I see Fun! popping up all over the place! No doubt your awesome photos catapulted them to fame!

      Love you!

  10. Sue Giles says:

    Dear Sarah Kate,

    What a wonderful update and what encouraging news.! Your wonderful family get togethers are certainly a source for any celebration–Happy Birthday and Happy Anniversary to your Mother and Dad. And thank goodness Lulu handled that run in well.

    We will be thinking of you as you travel to Cincinnati this week and we will keep you in our prayers with the hope that the Drs. there will be able to find answers to your illness and hope for treatment.

    And, of course, a Happy Birthday to Alice this week and love to everyone. We will be waiting to hear of the good news from your trip. As always, your clever wit, beautiful writing, deep faith and optimism amaze us all,

    Love you,
    Aunt Sue and Uncle Wayne

    • We have had much to celebrate in the past month! And I love to celebrate, so I am all smiles! Following our trip I anticipate that we will be having festivities in honor of Alice Eloise and Tim, too.

      We are counting our blessings that Lulu has fared so well! She is such a sweet dog, we were all very scared. But looking at her now you would never know anything happened, thank goodness!

      Thank you so very much for your prayers and for always being so loving and supportive. I truly believe that God has help and answers in store for me through this trip to Cincinnati!

      Sending love to you and the rest of the Giles!

  11. Karen says:

    Wow your La familia Frey party looks fantastic and a beautiful mothers day table also. Prayers are with you and your family for a “great” trip to Cincinnati. Keep up the family videos . . .brought lots of smiles. Loved spending some time with your mom last week!!!

    • We always have such fun when our family is all together! It’s a fairly regular occurrence since Krista and Tim live so close. I am very, very blessed!

      Thank you for your prayers… I, too, am hoping and praying that my new doctors in Cincinnati will be able to help!

  12. Kylie says:

    Sarah,
    I am a friend of Krista’s from her residency and visit your site frequently. You are such a beautiful writer. You have such a way with words, that your sentences just dance with eloquence. I love reading your posts and your witty comments about life. Your outlook is truly an inspiration. I adore your sister, and love hearing her talk about her love for you, and reading your writing I can tell that you are just as amazing as she is. Your parents must be special people because they raised two wonderful women. Thank you for sharing a glimpse into your world and your spark for life.
    Prayers,
    Kylie

    • Kylie, it is such a pleasure hearing from you! Your kind words touched my heart. Krista has told me many stories from her residency, and has said that you are simply one of the sweetest and most caring people she knows. I agree with you, my sister is a wonderful person! I thank God for blessing me with such a loving and supportive sister, the best friend I could have.

      Thank you so very much for following along with my journey and for keeping me in your prayers! I truly appreciate your support. I hope that all is well with you!