Mom shares how her daughter with rare disease is inspiration

Beauty, Truth and Goodness: Emilia's Story

When Emilia was just 6 months old, we met Dr. Narayanan. At that time, Emilia received most of her nutrition through a plastic tube that went through her nose, past her throat and into her stomach. 

Emilia was throwing up at least eight times per day and had never in her life slept for more than 15 consecutive minutes. She was BELOW the zero percentile in weight, and as parents, we struggled with not knowing what was going on.

The team at TGen changed that. 

Dr. Narayanan believed we would be able to discover what was causing Emilia's issues by looking at our family's DNA. For the first time, Dave and I finally felt like we had a plan.

TGen discovered that Emilia has a very rare mutation on a gene that produces a protein important for building several different tissue types.  Her diagnosis is Atypical Progeria Syndrome, which is an early aging syndrome. Now, we know exactly which protein is compromised. We know exactly which tissue types will likely be compromised, which means we know what systems will likely cause problems as she gets older.  We know that Emilia will likely need a lung transplant someday, but we hope that by that time, there will be adequate gene therapy techniques to repair her lungs.

Emilia has taught us what is important in life: Beauty, truth, and goodness.

To find these three things, you only need to look at the life of someone that suffers.  For us, that has been sharing in Emilia's life and daily struggles. I can only say that there is something truly amazing, beautiful and inspiring in these children. 

In Emilia's case, I see how it affects people when they meet her: 

  • Hardly a day goes by when someone doesn't come up to me to let me know how truly blessed I am to have such a child.
  • While on a trip to Washington DC, a man in a beautiful, tailored suit stopped us and asked us three times if we knew how special our daughter is and then proceeded to pray over her.
  • People that even have the tiniest interactions with her are inspired to be a better person, do more for others and make a difference in the world.

Time and time again, I have been surprised how Emilia and children that battle these devastating disorders have inspired beauty, truth and goodness in others. Isn't it ironic that having a unique genetic mutation inspires others to connect to each other and reminds us how that the difference between you and me is only 1 percent of our entire genome?

I have so much hope for TGen's Center for Rare Childhood Disorders.  Dr. Narayanan and the researchers I have met truly have a gift that you can see when they look at these children, not just with empathy, but with a sincerity that says to me they truly get just how special these children are to this world. I believe that TGen has the ability to be the kind of 21st century pioneer that we need to preserve Emilia's life.  

Written by Mary Crowell at 00:00

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