Join us this October in Riverside to raise awareness and funds for mito one step at a time!
2024 Energy Walk – Riverside, CA
Sunday, October 6, 2024
Meet Griselda Macario
I was born in California in 1993. In 2019, at age 26, I was diagnosed with TK2d, an ultra rare genetic disorder. Although there is no cure available for this disease, having an answer to the cause of my symptoms came as a relief. Growing up I was never the athletic type. I was not a fast runner, always coming in last during mile runs at school. Pull-ups, sit-ups, and push-ups were difficult to complete during physical education. I knew there was something off when I struggled to shoot a basketball or pitch a volleyball, however, I didn’t concern myself with it since academically I was a straight A student. In high school, my physical struggles during PE continued and the strength in my legs seemed to be less. I noticed that I was having a harder time with the steps onto the school bus and the stairs at home. In college, my strength continued to decline, but it was not noticeable since I continued with daily life.There were instances in which my legs gave out on me without notice. I was usually able to recover from the fall, but the embarrassment stuck with me.
Looking back, it all makes sense now. I loved to dressAn allergic reaction to medication. This reaction is characterization by fever, rash, abnormal blood tests and swollen lymph nodes. up, wear heels, and dance. At around ages 20-21, I started to notice that wearing heels was starting to be troublesome. Walking, standing up from a seated position, and climbing stairs in heels was not as easy as it used to be. I used to be able to dance all night, and now I was getting worn out and out of breath a few songs in. The strength in my arms was also declining. I told my primary care doctors what I was experiencing. They ran labs for thyroid and rheumatoid arthritis, but they came back normal/negative.
Ultimately, my weakness was attributed to lack of exercise routine despite having a normal school/work schedule. My husband bought gym equipment for me, however the muscle weakness continued. In 2018, at the beginning of my pregnancy, I voiced my concerns to the OBGYN. He did a quick physical exam and agreed that something was not right. For me, this was the start of my diagnostic journey. I transferred my care and was quickly referred to a Neurologist, then a Rheumatologist, and Geneticist. During my pregnancy I was subjected to all the normal testing and care for pregnancy along with several labs in search of an answer. Some of the possible diagnoses that were ruled out included Muscular Dystrophy, Myositis, and LupusA disease that occurs when the body's immune system attacks your own tissues and organs. Lupus induced inflammation can affect many different body systems including your joints, skins, blood cells, br.... A muscle biopsy revealed muscle tissue necrosis. The next step was genetic testing. Despite the muscle weakness in my legs, I had a successful, normal delivery and welcomed a healthy baby girl. My CPK levels continued to increase and doctors prescribed methotrexate and prednisone to see if it helped, but it didn’t. The next option presented was IVIG therapy. The genetic testing results arrived weeks prior to starting the IVIG treatment. I finally had an answer. TK2d, a mitochondrialRelated to the mitochondria. disease with no cure. There was relief in receiving a diagnosis that confirmed it was not all in my head, but there was also frustration. There is limited information on TK2d, so there is not much to reference.
Since TK2d is a disease that affects the muscles, no part of the body is exempt. I have been slowly losing strength in my arms, legs, neck, and torso. Facial, chest, and esophageal muscles have also been affected. In spite of the changes and struggles I face, I keep a positive perspective and find ways to adapt in order to not miss out on the things I enjoy doing. The love of my husband, daughter, family, and friends has motivated me to open up and share my journey with TK2d.
I am hosting this walk to raise awareness about Mitochondrial Disease. Although TK2d is an ultra rare genetic disease, there are several types of Mitochondrial Diseases. Awareness can help medical professionals see beyond the obvious, more common diseases; and shed light on both the visible and invisible struggles rare individuals like me face. Funding for further research on mitochondrial diseases and support is vital to the patient community who fight each day in hopes of a treatment and improved care and quality of life.