Monday, February 19, 2018

Where Then Is My Hope?

I remember it vividly. I was barely a teenager when I stepped into the autonomic clinic. My medical journey had just begun. A copy of Stephen Chbosky’s The Perks of Being a Wallflower laid in my hands, an attempted distraction from the boredom of the waiting room. I counted on a million ‘if only’s— if only I encountered the right specialists, if only I found the magic medication, if only I underwent the appropriate testing, if only the doctors found the underlying diagnosis, if only…if only.  

And thus, I flew from my home state of Florida to overcast Ohio for an appointment with Dr. Tom and Gisela Chelimsky. He is a neurologist, she a gastroenterologist. They join forces on scheduled days for their autonomic clinic. Although previously diagnosed with POTS by the Mayo Clinic in Minnesota, the Chelimskys confirmed that diagnosis, added neurogenic bladder and fibromyalgia to the list, and aided in symptom management. All of the traveling since becoming ill had to lead to answers. If only I encountered the right specialists.

Conditions under the ‘Dysautonomia’ umbrella, like POTS, rarely occur alone. The same applies to my other diagnoses of Mast Cell Activation Syndrome, Gastroparesis, etc. Each is caused by an underlying cause. During my appointment, the Chelimskys suspected that they knew mine—Mitochondrial Disease. I was told not to research the condition online. There is a wide spectrum in terms of patient severity, and a search surfaces the most petrifying. I left the appointment under the direction to take Coq10 and carnitine. The supplements are included in the ‘Mito cocktail.’ (The Coq10 helped with episodes of weakness and the carnitine did nothing). If only I found the magic medication.

Well, I did Google Mitochondrial Disease. I cried all night in the hotel bathroom. The thought of Mitochondrial Disease was eventually dismissed. Two years later, after it was mentioned by a second neurologist, the possibility resurfaced. I was sent to see Dr. Shoffner in Atlanta, Georgia. The neurogeneticist conducted a series of blood draws, urine collections, a muscle biopsy, a skin punch, and a lumbar puncture as part of the genetic workup. If only I underwent the appropriate testing.

A couple months passed and I received an email informing me that the remainder of my tests were not in; however, the lumbar puncture revealed unexpected results. My methylfolate levels in my cerebral spinal fluid were extremely low. It was already impacting my neurotransmitters and I was positive for folate receptor antibodies. I was diagnosed with Cerebral Folate Deficiency. I did not align with the typical presentation, but I was prescribed a medication called Leucovorin as treatment. To an extent, I was relieved to have been given answers. I had finally found helpful doctors. I had testing. I found a diagnosis to be treated. The ‘if only’s’ I hoped for seemed to be transpiring.

I was never able to make it to my follow up appointment, as I ended up inpatient and was unable to travel. Following my lengthy admission, the doctor had gone strictly to research and was no longer seeing patients. I was to have my pediatric doctors in Florida handle the situation. They were stumped. Cerebral Folate Deficiency is normally caused by Mitochondrial Disease, but my muscle biopsy was inconclusive with non-specific findings: atrophy, amino acid and acylcarnitine abnormalities, and 2 heterozygous mutations that are “likely not disease causing.” In the interim, I started rejecting oral medications due to reactions from my Mast Cell Activation Syndrome (MCAS). Unaware of the brain damage consequences of untreated Cerebral Folate Deficiency, the Leucovorin was discontinued. I had not noticed benefits anyways. Apparently, it takes up to 9 months of treatment to notice improvements. That tidbit was unknown at the time.

Now that I have moved and switched care to adult doctors, I am restarting treatment for Cerebral Folate Deficiency. Instead of the tablet, I will infuse Leucovorin via a central line to bypass reactions in the GI tract. Current doctors are just as perplexed—if there is no obvious confirmation of Mitochondrial Disease evidenced through the muscle biopsy, what is causing the Cerebral Folate Deficiency that is common amongst the Mito patient population?  

My records were sent to a local geneticist specializing in Mitochondrial Diseases and metabolic disorders. I have my appointment on April 4th.  With this health regression, I will try anything to help me feel better. I want answers more than ever because maybe, just maybe, the mast cell disease will improve if only we find the main underlying diagnosis.  

The ‘if only’s’ returned much quicker than they had left. The tests only prompted additional questions, the specialists more doctors, and the medications new symptoms while not preventing progression.

I am not that same 14-year-old girl reading in the waiting room of the autonomic clinic . I am sicker than I ever thought possible at age 21. Out of sheer desperation, I placed every last inkling of hope into modern medicine. It is not like God cannot use those things as a vessel to do His work. He certainty can. However, they must be recognized as such. No doctor, no medical test, no medicine, and no diagnosis can heal me. I cannot put my faith there. God alone can fulfill my ‘if only’s.’

"Where then is my hope—who can see any hope for me?" - Job 17:15, NIV