Welcome to Rolling with Liv, episode 1! I am your host Olivia Holler. In this episode, I will take you back from the very beginning and share my diagnosis story. In future podcast, I will be interviewing my support system and going through different topics of my daily life living with a disability.
Let’s take it back from the beginning since I have some new followers who don’t know the story…….
I didn’t crawl; I rolled and didn’t start walking until I was 18 months old; when I did start to walk, I toe-walked, and I never rode a bike. My mom kept note of these things and brought concerns to the doctor.
She is fine, they said. She will grow out of it. My mom knew something was not right. She kept fighting for the answers.
I saw an orthopedic doctor for toe walking at 3, and that’s when they discovered the scoliosis.
At ten, my scoliosis increased, and I wore a brace fo 2 years. At that time, I was evaluated orom Orthopedic and then sent to Physical Therapy. At that time, you were sent to neuromuscular and afterward to Evals.
I wore a brace in elementary and part of middle school.
It wasn’t until middle school that things became apparent, and my P.E. teacher brought it up to my mom. I couldn’t run a mile or do any of the physical tests we had to do every year. I was always out of breath and tired every time I did P.E. It was not normal for a kid my age.
During this time, my scoliosis was also progressing, and I had to get a spinal fusion with a halo surgery.
I was diagnosed with Muscular Dystrophy before spinal fusion. I had a ton of testing: muscle biopsy, pulmonary function test, cardiology, EMG, EKG, echo, muscle ultrasound, etc. With all that done, I was officially diagnosed in 2013 with Congenital Muscular Dystrophy and restrictive lung disease. It was an answer; after 13 years of my mom saying something was wrong, we got an answer.
I was there for a month, and after I got out, I was significantly weaker and had to find a new way of doing things because of my spinal fusion.
I quickly progressed into a power chair to conserve energy and use a bi-pap to help me breathe at night.
Now. this is where it gets interesting…
At age 13, my sister spent 15-20 hours/week training in the gym as a competitive acrobatic gymnast, but she struggled with her skills over time. She was diagnosed with a milder form of Congenital MD with respiratory issues. Bode was also diagnosed with Congenital MD in early 2019 at age 9. Bode still participates in athletics but struggles with endurance and keeping up with others
My mom is the carrier, so it really changed the whole diagnosis type when my other family members became involved.
We continued genetic testing to see if my grandma or other family members had something similar.
We have one gene for LGMD and one titan, which the doctors think is the cause of the disorder, not the LGMD.
Going on ten years, we still have yet to figure out what the exact cause is for our disease and what type it is.
I was recently accepted into the Pediatric Undiagnosed Diseases Network, which will further research the type of Muscular Dystrophy we have and what treatments may be available.
Research is fundamental to our family as we continue to solve our little family mystery. The good news is, as a family, we haven’t progressed much. I am still getting weaker, but the other members of my family are still staying somewhat consistent in their weaknesses. We hope to find answers soon so we can get treatment or know what our future looks like living with this disease.
On the next episode, we will be talking with my mom and get her perspective on the beginning of all our diagnoses’
