(poignant music)
- So I am 14.
I really like to play with my dog.
I really like spending time with my family.
I really like school and I have CLOVES syndrome.
CLOVES syndrome is a gene mutation
with a PIKC3A mutation gene.
It affects many people in different ways.
- At 20 weeks, we went in for the ultrasound
to find out if it was a boy or a girl kind of thing.
They found echogenic bowel at that time.
Looking back,
it was probably a marker that something was wrong.
We had to go back for a second ultrasound
and she had grown enough
that now they saw something different with her foot
and a lump on her back,
so they were just trying to put what knowledge they had
of things and attach that to what they were seeing,
but nothing really lined up really well.
So they ended up even taking it to fetal boards in Denver.
Nobody had seen anything like it before.
- So when she was born, there was the facial anomaly
but really that was the only visible other than the skin.
So it's always hard when nobody has an explanation
and it's even harder when somebody really wants
to find an explanation and can't.
So they communicate the uncertainty
in a lot of different ways,
through the conversation,
through use of different medical texts
and reading papers and things like that
and that certainly made it harder
for us because we didn't understand.
- Ellena was one of the first patients
with CLOVES that I ever treated
and it was an experience
where we were kind of learning together
how we could incorporate this kind of renaissance
of understanding internationally about CLOVES
and incorporate it into targeted and personalized therapies.
This was a journey that the family
was willing to go on with me.
- I've had to have a lot of things done
including a lot of surgeries and a ton of,
I've had to have therapy so,
I had to have therapy a lot
and then I had to have like therapy almost every week
after my amputation.
And then, I am glad to say
that I don't have to do that anymore.
I haven't had to do it for the past two years.
- We've learned to take it day by day
and just live our lives as best we can
when things aren't going on.
If she had been six weeks old
and someone came in and told us after her brain surgery
or whatever, we're gonna take that tissue
and do some gene sequencing
and we'll be able to tell you what it is,
that would've been a much different impact.
- Parents of children with rare disease
are some of the strongest people I know.
They have to create a network.
They have to create and advocate
where there's no foundation,
oftentimes, they're the only ones in their community
with their child diagnosed with a specific condition.
- She's a great kid.
She stays positive through the whole thing.
Ellena's doing amazing.
So I am.
I think I hope for what everybody hopes for
for their kids, right?
I'd like her to have a normal, successful adulthood.
I'd like her to be able to support herself
and live independently,
and I'd like for her to be happy and do whatever she wants.
- We try to have her be as normal a kid as possible,
try whatever she wants to.
But it's still very stressful when something new comes up
and it's like you almost kind of think you're past it
but with CLOVES or that or any CLOVES condition,
you're never really past it.
I think how we deal with it
is all very much day to day,
but when you sit down and talk about it
and look at the whole forest, it's a lot.
And we're very lucky she is where she is.
- I think I really choose to have a positive outlook
because I have to go through so many things in my life
that I never really thought that I would have to go through.
I just try to keep a positive attitude
no matter what, I think.
- We hope the field is turning to one
that has more systemic therapies,
more targeted therapies, more personalized therapies
and Ellena, ideally, gets to be part of that.
(poignant music)