“I will instruct you and teach you in the way you should go;
I will counsel you with my loving eye on you.” Psalm 32:8
After a busy few days, I am delighted to be home!
It was a quick trip to Cincinnati Children’s Hospital, but it was so beyond worthwhile. I am quite exhausted from all the activity, but I wanted to share a brief report of the visit I had with my new doctors! (Brief is a relative term, guys. This is 1,326 words shorter than my last post!)
Last Friday we received a phone call from the genetic counselor at the mitochondrial disease clinic in Cincy, hoping to gather some of my background information so that she could become accustomed with my situation. This came as a relief to us… We were wondering how we would manage to effectively relate my very lengthy history to the doctor and devise some sort of a plan, all within my allotted appointment slot.
This advanced preparation proved to be highly advantageous. Upon arriving at my appointment yesterday I was pleasantly surprised to find that both the genetic counselor and Dr. Huang were remarkably familiar with my story. So we very efficiently breezed through that whole saga and were able to focus on an ideal mode of action!
At first I was momentarily taken aback when Dr. Huang said that my previous test results did not provide a definitive diagnosis of mitochondrial disease. With doctor’s I have seen in the past, this type of statement can usually be interpreted as “Sorry, I don’t know what’s wrong with you. Good luck finding help elsewhere.” A dead end, landing me back at square one in my search for answers.
But this was not the case with Dr. Huang! He does not know what is wrong yet, but he is happy to help me try to figure this out. He believes that genetics are the culprit behind my widespread symptoms; but the question is whether the problem is mitochondrial disease, channelopathies, unknown mutations, or a combination of any of these.
So Dr. Huang has ordered complete exome sequencing for me. This is a very broad form of genetic testing, and Dr. Huang is confident that it will provide insight and reason behind the seemingly unrelated issues I have. I mean really, it’s not just a coincidence that I have a collection of rare diseases… They have to be related somehow. Dr. Huang thinks the results will even reveal the cause of my mysterious paralysis episodes following anesthesia. This testing takes anywhere from 3-6 months to return, but Dr. Huang is prompting for results as soon as possible.
I couldn’t be more thrilled with my appointment at the mito clinic! And my palliative care meeting was positively wonderful as well. My doctor in palliative care is Dr. Meyer. Without question he understands the nature of my illness better than any pain doctor I have seen. Because Dr. Filipovitch, another one of my specialists and the world-renowned expert in HLH, is located at Cincinnati Children’s, Dr. Meyer sees many HLH patients, which is extremely beneficial. It is not easy to find a doctor familiar with HLH, so his knowledge is very reassuring for me!
He understands my sensitivity and strange reactions to many medications, as well as the complicating matter of my digestive tract paralysis (DTP). Because of my DTP, oral medications cannot be absorbed properly, often times hindering the desired relief, causing unwanted and potentially dangerous side effects instead. But a lot of doctors are hesitant or unwilling to prescribe intravenous, intramuscular, or subcutaneous injections for home use, leaving me unable to attain any pain control. I am very thankful that Dr. Meyer has ideas that he thinks may help me! He wants to discuss my options with Dr. Filipovitch and Dr. Huang before making any decisions. Then he will contact my family and me to devise a plan.
Can I get a “WAHOO”?! Cincinnati Children’s Hospital has been such a blessing to me. I finally feel content, as though I have found the right place to provide the care I need. Thank you so much to all of my friends who prayed that this trip would provide answers. Undoubtedly I still have many decisions ahead of me, but the Lord is always faithful… I am looking to Him to lead me along the right path!
Our trip was remarkably short, but we accomplished a lot in the 17 hours we were there. And I arrived home in time to celebrate a few hours with my birthday girl, Alice Eloise! She is pretty impressed with her haul of birthday gifts.
But what she doesn’t know is that her mama is still planning to make her a quilt and a raincoat, too! Shhh!
I miss her so very much when I am away. But I informed my doctors that when I see them for my follow-up appointments in September, I would be bringing my service dog along with me!
And what have I been doing since I arrived home? Well, believe you me, I am wiped out!
Alice Eloise is pretty tired, too, after a wild slumber party with Aunt Krista, Uncle Tim, and Cousin Lulu! (The silly puppy decided 12:00 am on her birthday was the perfect time to play a game of fetch.) Last night I couldn’t muster the energy for too much birthday hoopla, but Alice Eloise and I did cuddle up to watch our favorite “Bewitched” episode. (I could, however, find the stamina to chant along with Darrin’s “yaga zuzi” incantation. His enthusiasm is so contagious, I just couldn’t help but join in!) And today we took a stroll, but otherwise things are moving pretty slow over here. I predict a movie and an early bedtime in my future. Goodnight!