30 Days of MD: A Grandmother’s Perspective

Photo courtesy of Hannah Lowe

Day 25 of 30

This is Elizabeth Lowe’s story:

My grandson Austin was diagnosed with LMNA-related congenital muscular dystrophy (L-CMD) just before the pandemic lockdown in early 2020. My daughter, Hannah, and her husband, Mark, had noticed that Austin had stopped picking up his head during tummy time, and he refused to drink more than two ounces of milk at mealtime. After their “medical odyssey” to various specialists, he was finally diagnosed via whole-exome sequencing at Texas Children’s Hospital.

Living in Baltimore, we went to Houston to see Austin in the hospital and his older brother. The next month, everything shut down, and we wouldn’t see them again for over a year.

Austin is a happy and bright 2-year-old now, although he cannot do most things that kids his age can, like sitting up, running around, or eating by mouth. But he still enjoys the same things: trains, toy cars, learning the ABCs and 123s. Given the pandemic and the distance, we don’t get to see him and play with him as much as we’d like to, and because of his medically complex state, he cannot travel easily. He has a feeding tube, cough assist, wheelchair, and an adaptive car seat.

His family has had to change their vision of how their life will look like and have learned to work their day-to-day routine around his needs. They’ve dived into scientific research, launching a nonprofit, the L-CMD Research Foundation, to specifically fund translational research for L-CMD. Mark and Hannah spend most of their “extra” time networking with researchers, reading scientific papers, taking care of administrative duties, planning events, and fundraising for the foundation.

As a grandparent, this is not how we envisioned our grandchild’s future and our family life with him, but we are fortunate that Austin has a loving and engaging personality. We will make the logistics work to be with him as much as possible as he grows up. We look forward to doing more activities like going to the zoo, reading together, and maybe even having him come visit and spend the night. But first, we will need to learn how to use all of his life-sustaining equipment!

Muscular Dystrophy News’ 30 Days of MD campaign will publish one story per day for MD Awareness Month in September. Follow us on Facebook and Instagram for more stories like this, using the hashtag #30DaysofMD, or read the full series.