When we
brought Judith home from the NICU, we thought our journey with her would be
different. We knew we’d be dealing with
the normal issues a 29 weeker that’s also IUGR would deal with, but had the
hope that she’d live a long, normal life and be caught up by the time she’s 2
or 3. We knew that we were lucky that
she did not need a monitor or oxygen when she came home, were lucky that her
ROP self-resolved, and she was taking breast milk from a bottle like a champ
after struggling for weeks to master her feeds.
Never in our wildest dreams did we expect another wrench to be thrown
into the mix; never in our wildest dreams did we expect that, after coming so
far and helping her fight to survive, would we be this fearful of the future,
knowing the odds of her dying long before us would become our reality. Raising a preemie is challenging; raising a
preemie with Cystic Fibrosis (CF) has been very challenging.
A little
back story: For years, I struggled with very irregular menstrual cycles. Even as a teenager, I was becoming aware of
my family’s history with infertility, and started to understand that I would
have a difficult time getting pregnant.
I was open with my future husband about this, which is why we didn’t
wait a full year before initiating infertility testing. In 2008, after visiting a reproductive
endocrinologist, I was diagnosed with polycystic ovarian syndrome, or
PCOS. At this time, we also discovered
that my husband, John, is a carrier of a very common cystic fibrosis mutation,
Delta F508 (DF508) - if you have never been through infertility testing, they
check you for everything, including
common genetic conditions and mutations that can cause problems for a fetus or
an infant/child. My tests came back
clean - at the time, we didn’t realize that most clinics will only test for
about 36 common cystic fibrosis mutations.
Therefore, we assumed I was in the clear; the most that could happen was
we could have a child that would be a carrier of the disease, and it would only
become an issue if our child would try to have a child with another carrier.
Wrong. So, so wrong.
Because of
that assumption, I foolishly declined the prenatal screening for CF. Being a worrier by nature, I thought, “Why
worry yourself over something that isn’t likely, something that will probably
give a positive hit because the baby is a carrier?” So the test was never done. In retrospect, would it have made a
difference? Probably not, but I will get
to that later, and you will understand why.
Anyway, since my pregnancy was high-risk, I was receiving ultrasounds
every few weeks to monitor progress and whatnot. Even with all of the ultrasounds, including
two Level II scans, never once did my OB mention about a marker for the disease
as can happen sometimes, particularly if there is a problem in the bowel.
Judith
entered into the world at 29 weeks 2 days after I was diagnosed with severe
preeclampsia and intrauterine growth restriction with low amniotic fluid. I managed to hold out long enough to receive
both steroid shots, and they helped tremendously - ironic, considering I
unknowingly delivered a baby that would be fighting with the respiratory issues
caused by CF. Sometime after her birth,
the nurses collected the blood samples to send to the lab for the state-mandated
newborn screen. We knew we’d have to
wait a few weeks before getting the results.
Once said
results returned, one of the nurse practitioners and one of the neonatologists
mentioned that Judith had a positive return for CF. I brushed it off, saying that John was a
known carrier but I’m not. Nevertheless,
they said that once Judith was discharged, we would need to have further
testing done, just to be sure.
Fast
forward to the day of her discharge, and on her orders (and in the letter
dictated and sent to our primary pediatrician), we were again told that she
would need to undergo further testing because of the positive hit for CF. After a visit with our primary pediatrician,
we set up an appointment at Hershey Medical Center for a sweat test, which
would be the deciding factor. The test
would involve a technician rubbing a special chemical on Judith’s arms, then
attaching an electrode to the spot and sending low doses of electricity through
the electrode that would activate the chemical, causing her to sweat. A pre-weighed piece of gauze was placed on
each arm and wrapped to collect her sweat.
Poor Judith hated the test, and who can blame her? She was not a happy camper! We also had an appointment to meet with a
pulmonologist at the CF clinic after her test, and we would go over the results
together. We received some information
about the disease, then found out that, because of her size, she didn’t sweat
enough for them to get an accurate result.
We had to return and repeat the test once she gained some weight and
grew. I was bummed that we had to go
back, since that would mean another appointment among the already high amount
of appointments, but I understood why we needed to do it. The pulmonologist didn’t seem too concerned
given the history we told him, so I thought this was just a formality, and the
second visit would be the last.
It was
April 20, 2011. Judith was about 8 lbs.,
a magic number for us because that meant she should be able to sweat enough to
give us an accurate result. We went
through the test again, and once completed, walked over to the offices to meet
with the pulmonologist. The nurses
weighed and measured her, then told us that the doctor would be in
shortly. We sat in the room for almost a
half hour before the doctor finally came in and gave us the news: Judith did
indeed sweat enough for this test, and the numbers were high enough to make a
diagnosis of cystic fibrosis. I was in
shock; John wasn’t with me to hear the news (my mother came with me to help),
and I had no idea how he would handle it.
Everything was a blur: a team of people came into the room to talk to
us, we were given multiple prescriptions, a spacer, and a manual percussion
cup, and instructed on how to do breathing treatments with an inhaler and how
to administer chest physiotherapy (CPT) to help move the sticky mucous out of
her lungs. We also received orders to
set up a repeat test for a second opinion since her numbers were on the lowest
end for definitely having the disease - for a baby 6 months or younger, any
number of 60 or greater means the infant has the disease, 30-59 means it’s
borderline, and 29 and lower means no disease at all. Judith’s numbers were 60 and 61.
We returned
for the second sweat test, and the results were conclusive: she definitely has
the disease. This time her numbers came
back at 64 & 65, moving her farther into the category of certainty. Judith had some blood drawn for genetic sequencing;
we knew she carried a copy of DF508 that she got from John, but we had no clue
what mutation I passed on to her. A few
weeks later, we received the results from the test, and were no further than we
were before. The second mutation, the
one I passed on, is still unknown; it’s possible that it’s a more recently
discovered mutation that the lab panel doesn’t include yet, but it’s also
possible that it hasn’t been discovered.
It could be years before we find out what the mutation is, or it could
show up when we retest her after the lab expands the panel.
I never
thought I’d end up being a dragon parent, one who will do anything to help
their child survive and have the best quality of life possible. I feel like a lucky dragon parent, though:
DF508 has the potential to cause severe disease in CF patients, thus shortening
their life expectancy more. To date,
Judith appears to have a more mild form of the disease, but things can change
at any time. So far, she is pancreatic
sufficient, meaning her pancreas functions normally and her body can absorb
fats as well as you and I; however, she has been showing signs lately of a
change, and it’s starting to look like she’ll join the more than 90% of CF
patients who are pancreatic insufficient and need to take enzyme supplements
before meals to help the body absorb fats.
We’ve also been lucky with avoiding respiratory infections. Thanks to her preemie status, she received a
full course of Synagis injections last year, and due to the CF is receiving the
full course again this year. Aside from
a couple colds and a sinus infection, our precautions appear to be working.
Still, the
prognosis for her future is clouded.
There is a possibility that she could outlive us, and with new advances
that possibility increases. Currently,
the average life expectancy of a CF patient is 37. Knowing the statistics gives us hope that she
could live long enough to fall in love, get married, and possibly have
children. But some days we’re overcome
with fear that she will never live to see that average. It’s a startling thought, especially after we
worked so hard to get her where she is.
Recently, the spark of hope was kindled further with the FDA approval of
the drug Kalydeco, which will target the root causes of CF and treat them
instead of treating the symptoms.
Unfortunately, this drug will not benefit Judith, and the news of the
release is bittersweet; however, researchers are seeking FDA approval to start
working on a new drug that will help over 90% of the CF population. This drug will benefit patients who have the
DF508 mutation. I pray that the
researchers’ work on this drug is successful, as it will help Judith’s future
look a little less cloudy.
If you would like to read more about our journey, starting
with our days in the NICU, you can read our blog 2 Bostons, 1 Preemie, &65 Roses.
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