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
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
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
In Emilia's case, I see how it affects people when they meet
- 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
- 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.