Sep 13, 2022
In this episode, Chandani DeZure, MD, a board certified pediatrician and mother to a young child with idiopathic PAH, shares the heart-wrenching journey of her son's rare disease diagnosis during the height of the COVID crisis. She details physical and emotional toll it has taking on her son and family.
My name's Dr. Chandani DeZure. I'm a Board Certified
Pediatrician and a caregiver to a child with PH who just turned
four years old. My son Ryan was diagnosed in July 2020 when he was
two years old and COVID was in full swing. I was a frontline
worker. I was five months pregnant with my second child, and he had
been diagnosed with an ASD (atrial septal defect), because he had a
murmur at his well-child check. So we had went in for an
echocardiogram to see if his simple ASD had closed on its own.
Then, maybe we'd never have to see a pediatric cardiologist
again.
What happened was quite the opposite. He was incidentally found to
have severe dysfunction, which would be very disproportionate to an
ASD, but very concerning for pulmonary hypertension. We were
admitted to do an urgent catheterization procedure, which was a
little unnerving, because it was dangerous to be in hospitals at
the time. Given his elevated pressures, he was officially diagnosed
with Type I or idiopathic PH.
A little piece that I like to share is the consequences of COVID. A
lot of routine care was delayed because COVID had other ideas. My
son's echo for his ASD follow-up was delayed about three months,
because the cardiology clinic had been closed to non-emergent cases
due to COVID. Normally, three months for a simple ASD would not be
a big deal at this age. However, in the nine total months it took
to get a repeat echo, his heart function went from normal to
severe. Unfortunately, we've never really been able to recover from
this. I wonder if we had been able to capture it somewhere in the
middle, we would've fared a little better?
Back to his diagnosis. He came out of his catheterization
procedure. We met his new PH team after diagnosis at a world
renowned center. It took them about 10 minutes for the doctors to
relay the good news, which was that his 10 year survival at age two
was 80%. I don't know which cardiologists need to hear this, but
talking about survival numbers is never really good news,
especially in a two year old. Also as a pediatrician, I was well
aware of the trajectory and the prognosis that PH can have. It was
just very difficult to hear that my toddler was going to have to
deal with this diagnosis.
We got started on oral therapy, thinking it was to be fairly easy,
given that we caught it early. He was young. He had no symptoms,
and so that it would be easier for his heart to recover than
perhaps other people who get diagnosed late. But as we followed his
serial echocardiograms, they remained unchanged with severe
dysfunction. Eventually, we escalated to triple therapy very
quickly including Sub-Q Remodulin®. Sub-Q Remodulin® was for us the
seventh circle of hell. Actually, I think Dante would've given it
its own circle. My son Ryan had severe, uncontrollable, prolonged,
excruciating site pain that was just unbearable.
We had to power through, as we tried to troubleshoot it. We saw a
pain doctor. We did oral medications. We did topicals. We did gels.
We did narcotics. We did anxiety-reducing medications. Nothing
really worked. No one quite understood how awful it was. Like I
mentioned, I was pregnant at the time of his diagnosis. So by the
time we got on Remodulin®, which we were admitted for with a one
month old postpartum in tow in COVID still. I was still
breastfeeding at the time, but I had to give up breastfeeding my
three or four month old at the time, because I had to hold Ryan
while he screamed in 15 out of 10 pain for 72 hours straight with
each site change, (which for him was about every two to three
weeks). As a mom is was super awesome, because I got to fail both
my children in different, but very profound ways at the same
time.
Then, because it got so out of hand, nothing was working at about a
year after we started it, (November 2021), we eventually
discontinued it as not being able to tolerate. The one lucky piece
of this is we did a catheterization before we came off of it, which
actually showed that his pulmonary pressures had normalized, which
would be great news. But his RV (right ventricle) had very poor
function. So the thought was, “we've fixed the pulmonary
hypertension. Maybe this ASD that hadn't closed was causing some
problems.” So of course, most ASD's get closed in a catheterization
lab, but we of course were lucky and his couldn't be, because he
didn't have adequate rooms. So the things that they put in the
catheterization lab to kind of latch on there didn't have anything
to latch onto on one side of his ASD, so he had to be scheduled for
open heart surgery at a very well-known institution.
Unfortunately, due to circumstances outside all our control, his
open heart surgery was rescheduled three times for nonclinical
reasons. I kind of wanted to relay the mental and physical energy
that goes into prepping for your child's open heart surgery. It's
just a massive undertaking, not even to mention the logistics and
being told that this might be the thing that's going to fix your
kid's heart when we've kind of fixed the other problem… then
delaying it isn't enough to drive someone insane. Just after all of
this, we felt it wasn't appropriate. We actually transferred his
care just for the surgery to another institution, just so he could
get his surgery, even though that meant going away from a team that
knew him where he'd gotten all his previous care.
I don't blame his PH team. I don't blame the surgeons. I think this
is part of why I wanted to talk about this is that this healthcare
system is such a difficult system to navigate. There are things
that happen that are outside our controls, but it has massive
consequences on what patients and families go through. With his
pressures normal, we closed his ASD. He did great. We were in the
hospital about four or five days, which is wonderful. He had no
complications. We were able to go home without issue.
So now the pulmonary pressures were normal. We had closed this ASD,
which may have been causing problems. So we were hopeful that his
heart would recover, but unfortunately he had still showed some
severe dysfunction. None of it really makes sense to us or his
doctors. The best cardiologists in the country can't seem to
clearly articulate what is going on. Unless we're able to improve
his function, he is sort of a ticking time bomb on his way to heart
failure and potentially transplant is my understanding of where we
are.
As a physician myself, I am well-connected, resourceful and
privileged in many ways that some other families aren't. I am still
constantly advocating for my son 24/7. I really don't know how
other parents do it. I feel it's a full-time job on its own between
the cardiologists, the surgeons, the primary care doctors, the
therapists, the social workers, the IEP meetings for schools. It is
absolutely exhausting as a parent. People keep remarking and how
resilient my son or even I am. I just honestly wish he didn't have
to live in a world that needed him to be so brave. I don't want him
to be resilient. I want the world to be less traumatic for him.
I mentioned the healthcare system. It's just the miscommunications,
the errors, the delays. For us, the unclear diagnosis, the
frequency of appointments, the disjointedness of the system, the
imaging, the procedures… it's all death by a thousand cuts. In his
case, maybe even literally. But honestly my biggest fear isn't that
he's going to die, though it's a very close second, but rather
someday, he's going to say, “Why didn't you stop the madness when
you should have?”
I think in medicine, and I know I do it too, we like to be hopeful.
We have so many interventions at our disposal. But there's a
difference in doing something because we can do something, and
doing something because we should do something. I'm glad for people
with PH who are finding ways to live their lives with meaning. I
wonder if my son will do the same. I also wonder on some days, if
with my son, we are simply rearranging chairs on the Titanic?
At the end of the day, as we know it, PH is incurable and
potentially lethal. Don't get me wrong. My son is asymptomatic to
this day and always has been, and he's only on oral meds and he is
living his best life, currently. I enjoy every minute I spend with
him knowing what is at stake.
I hope desperately for a cure or a way to make this a manageable
chronic disease for him. But if not, and if and when that time
comes for me to stop all this, I hope I have the strength and
courage to make that choice for him. As bad as things are, they
could always be worse. I think that's important to note. I think
the silver lining is that there are moments of time where I'm able
to forget that he has PH, because he's running around, he's going
to school. There are plenty of moments where we're happy.
We don't live in this dismal world. I think it makes it easier
we're not in the hospital every day. We're at home and he and his
brother play very nicely. It's fun to watch them. As much as we say
his function is really poor, severe sounds bad, but maybe for him,
he can last with severe dysfunction for longer than we think he
can. I mean, there's no way to predict the future. You kind of go
into this rabbit hole if you keep thinking worst case scenario. But
I think the Sub-Q Remodulin® really taught me there's going to be a
time where we're going to have to say enough. It's not now. I hope
it's never. But I don't know if it won't be never.
My name is Chandani DeZure, and I'm aware that my son, Ryan is
rare.
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