Mighty Mito Marcher 5K FUN RUN 2016

My Mitochondrial Disease Story



I have shown many symptoms of Mitochondrial Disease ever since I was little, but my symptoms were written off by another illness I have called Beta-Thalassemia Major (Cooley’s Anemia) and the life - saving medication I have to take for it, that I happen to be allergic too.

​From 2007 - 2008, I developed MRSA in the hub of my port-a cath and every time we used it, I would spike high fevers (of 102 - 105.3) and sometimes I would even go into anaphylactic shock within seconds of having my port accessed. It took almost a year for doctors figure out what was going on. During one of my routine blood transfusions every 3 weeks for the thalassemia, I spiked a fever and they could not get my temperature to go down. They admitted me to the floor and I had surgery to remove my port-a-cath and that's when they found out I had MRSA (so I was treated for that) and they also found out that the tip of the line was to far down into my heart. This was causing a node in my heart to be tickled, which explained why I couldn't breath and I was almost passing out within seconds of having my port accessed and flushed. My mom & I were told as a child grows who has a central line it starts pulling out a little bit, instead my line decided to embedded its self down farther.


Every year, since having the MRSA I have been having issues. I strongly believe this is what may have triggered my mitochondrial Disease to go into hyper drive. I have now been stable for most part since around 2012, but from 2007 - 2011 its been a rollercoaster ride.

​In March of 2009, I suffered from stroke number one and my mom took me to The Cleveland Clinic looking for answers. I had blood work done, urine analysis, an EMG/ nerve conduction test, and lastly a skin biopsy that conformed the diagnoses of SCAD (Short-chain acyl-CoA dehydrogenase) Deficiency with abnormal acylcarnitines. This type of Mitochondrial Disease however did not explain the stroke – like episodes and not much was well know when I was first diagnosed.



​November of 2010, I started developing severe tachycardia were I would get nauseated, dizzy, start sweating (which is NOT normal for me), and vomit. My resting heart rate at that time was 120- 130 beats per min. I could not stand up let along walk without my heart rate jumping 30 - 50 beats. Doctors in town did EKG/Echo, Halter monitor, bubble echo. However once again they had no idea what was really going on, so they just wrote it of as the thalassemia causing issues.

​I later went to Pittsburgh Children's Hospital to see a cardiologist and I had a EKG/Echo, Transesophageal echo (TEE), bubble echo, and a 30 Day halter monitor that only lasted a week, because I had multiple episodes within 1 week that doctor could tell I needed to be on Medication. The cardiologist prescribed a Beta- Blocker and that has really helped me. Little did we know at this time I was developing Dysautonomia and that I have gene that causes Tachycardia.



Later in February of 2011, I suffered from another stroke and in the summer of 2013, I saw Dr. Amy Goldstein at Children’s Hospital of Pittsburgh. She strongly felt that I had another form of Mitochondrial Disease called MELAS (Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) Syndrome. She ordered a Courtagen saliva DNA a test and test results came back with a Polygenic MELAS-like syndrome along with RYR1 (Malignant Hyperthermia) gene, RYR2 (encodes the cardiac ryanodine receptor) gene, PLGRKT (Plasminogen Receptor, C-Terminal Lysine Transmembrane Protein) gene, ACHE ( Plasminogen Receptor, C-Terminal Lysine Transmembrane Protein) gene, & ALDH1L2 (Mitochondrial 10 - formyletrahydrfolate dehydrogenase) gene.



Having Mito is hard, but I do NOT let my disease define me! I stay positive and I want to help others fighting this disease too. I want to be part of the cure, NOT a victim and th's the reason why I created The Mito Life – Living life as Zebras & Butterflies.

How Mito affects Me: Stroke-like episodes, Ataxia, Myoclonus, Muscle weakness/Pain/spasms & Atrophy, Fatigue, Short stature, Exercise intolerance, Restrictive lung disease, Hearing loss/impairment, Sinus tachycardia, Dysautonomia (temperature instability/heat intolerance, inability/ decreased ability to sweat, & decreased/ hypersensitivity to pain), GERD, Dysmotility, Random vomiting & nausea, Central sleep apnea, Gliosis/brain lesions, & Learning disabilities.



Diagnosis: Beta-Thalassemia Major (Cooley's Anemia), SCAD (Short-chain acyl-CoA dehydrogenase) Deficiency with abnormal acylcarnitines, Polygenic MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) - like Syndrome, Malignant Hyperthermia, Ehlers-Danlos Syndrome: Classical Type with Hypermobility, Reflex Neurovascular Dystrophy (RND), Dysautonomia, Sleep Apnea, Iron overload (Hemocromatosis), Over Active Bladder (OAB), Restrictive Lung Disease, GERD/Reflex, Growth Retardation, & Glosis of right frontal lobe/Brain lichens.