Showing posts with label cystic fibrosis. Show all posts
Showing posts with label cystic fibrosis. Show all posts
Tuesday, February 28, 2012
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.
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.
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.
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.
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.
Tuesday, November 29, 2011
My entire pregnancy was rough, but little did we know how rough things were about to become. I had a regular appointment with my OB on the Monday after Thanksgiving. I just started my 3rd trimester, and in the prior week to my appointment I started to experience some swelling in my feet. My pregnancy-induced carpal tunnel also was acting up more than usual, and my fingers were so numb that I lost a lot of sensation in them (writing and typing were becoming a challenge). I remember talking to my mom about it, mentioning that by the end of a day of teaching my feet resembled that of a Cabbage Patch doll. I chalked it up to normal third tri swelling, but made a mental note to talk to my OB about it at the next appointment.
We spent Thanksgiving with my in-laws, and the swelling
seemed to have gone down a bit. I made sure to prop my feet up as much as
possible, and took it easy. I did the same on Black Friday and that
Saturday, but by Sunday my legs, along with my feet, were starting to swell.
Monday arrived, and I was blowing up like a balloon.
Cue my appointment that Monday. It was an evening
appointment, around 6:00. John came home from work, and we left for the
doctor soon after... without eating dinner (I said we'd just eat when we got
home, figuring the appointment wouldn't last too long). Stepping onto the
scale was concerning: my weight had dramatically increased again, even with a
big change in my diet. I made sure to take off my shoes so my OB could
see the swelling - it was the first thing he checked (along with the little
test strip they use to check for protein in the urine). We didn't finish
our appointment - he sent me directly to Labor & Delivery for a non-stress
test and a 24 hour urine catch.
I went through the catch before, so I knew how much of a
pain it was going to be. He wanted me admitted because my blood pressure
was so high, and I was somewhat grateful because I wouldn't have to worry about
doing the test at home again.
Everything looked good on the monitors, and Judith was
getting pretty pissed at them; she showed her constant disapproval by kicking
the monitors (silly girl). Nevertheless, I was placed in a room for
monitoring, and the nurses attempted to start an IV - I have horrible veins,
but it took them over an hour to get the lines in, and they took my 1 good vein
they use for blood draws (I was not happy about this).
While all of this was happening, my parents were driving to
our place to watch the dogs, and to feed them their dinner.
John was able to spend the night with me, and neither one of
us got a lot of sleep. I was uncomfortable, and didn't have a spare
pillow to help make me more comfortable. I didn't get to eat, and was
annoyed by that. The nurses started the urine catch, and the waiting game
for the results began.
Tuesday, November 30th was spent finishing the 24 hour urine
catch. I was placed on bedrest, and was trying to figure out ways to
entertain myself. I had John bring one of my word puzzle books, and I
watched a lot of TV. I was also busy with visitors (surprise visitors!),
and received a bunch of phone calls from family.
I think by this time, the dogs had basically been placed in
my parent's car, with their things, and taken to their place to stay while I
was hospitalized (John was still staying with me, and going to work from the
hospital). They were very upset, and really didn't know what was going on
- Lady knew something wasn't right before I was hospitalized, but I'm sure she
knew something really wasn't right. Buster was extremely upset, and still
stresses out if we have to leave them overnight.
That evening, we finished the urine catch, and everything
was sent to the lab for testing. We were told my OB would get the results
first thing in the morning, and would talk to us then.
I was hoping that things didn't look too bad. I knew
that it was way too early for Judith to come, as I was only 28 weeks and 6 days
along. I wanted to try to make it to at least 32 weeks, knowing that even
if she had to come early, the longer she stayed inside, the better off she'd
be. At that point, I didn't care if I had to be on complete bed rest, but
I really wanted to be able to do it at home where I could at least be
comfortable in my own bed.
Wednesday, December 1st dawned a very warm, rainy, stormy
day. It was unusual weather for that time of year - temperatures were
well into the 60s, and it felt more like spring than late fall/early winter.
This was also the day when the shit really hit the fan.
My OB indeed received the results of my urine catch, and it
was not good: I had +3 edema, particularly in my legs; my kidneys were spilling
10+ protein, and were on the verge of shutting down. He broke the news to
us that I had severe preeclampsia, and his goal was to have me make it as
long as possible before delivery so they could administer steroid shots to help
Judith's lungs develop. He informed me that I would have to be
transferred to a different hospital, one with a Level III NICU that could
handle a very premature baby. He explained that St. Joseph (where I was
at) had some sort of relationship with St. Luke's in Bethlehem, and that was
where they were going to transfer me. My perinatologist was from St.
Luke's, so I felt comfortable being transferred and placed under his care up there.
I was immediately started on magnesium sulfate, to help
prevent any seizures that could be caused by the pre-e. If you have never
been on mag, I hope you never have to be. That stuff sucks. They give you a bolus over the course of an hour, and
it's wicked - you get major hot flashes, and it can make you nauseated (thank
God I avoided that part, but it did make me feel very funky - like an acid trip
or something). They also had to place a catheter, because the mag pretty
much robs you of the ability to walk like a normal person; my urine output also
had to be monitored, so this was an easy way for them to do so.
A group of student nurses was on the floor that day, and
they asked if it would be ok for them to place the catheter. I'm big on
learning opportunities like these, and it didn't bother me. Just my luck,
though, it was storming at the time, and the freakin' power went out right as
they were getting ready to place the catheter. It took a little bit for
the generator to kick in, and once it did the ladies got everything placed
quickly and accurately.
I spent an hour in a medical van on the way to Bethlehem,
and that was one of the most uncomfortable trips of my life. I had some
bad sciatica by then, and every bump hurt my poor bum. I couldn't move my
legs around (strapped down for safety), and I couldn't switch positions.
Combine that with the looming fact that I was only 29 weeks along and was
facing the very real possibility of my daughter arriving by the end of the
week.
My mom and John drove separately, and met me at the
hospital. I arrived first, because John got directions to the wrong
place. I was settling into my room by the time they figured out they were
at the right place, and I had an ultrasound scheduled with my peri. Mom
didn't stay long - it's a good hour and a half drive for her, and she needed to
get home; she stayed long enough to make sure I was settled, then made the trek
south.
John went with me to the ultrasound, and the peri took a
look at everything. The day before, I had an ultrasound at St. Joe's, and
my OB noticed something funky with the placenta. My peri told us what
happened: as a result of the pre-e, my placenta shut down, and Judith stopped
growing. It happened in the span of 2 weeks - I had an appointment with
him 2 weeks prior, and everything was fine. He also told us that because
the pre-e was so bad, Judith was Intrauterine Growth Restricted (IUGR), and
because my placenta wasn't functioning, they would have to deliver as soon as
possible. The hope was for me to hold out long enough to get the 2nd
steroid shot, and they would schedule a c-section for 24 hours after the last
shot (Judith was also breech, so an induction wasn't even possible). They
would perform an emergency c-section if things deteriorated further.
Thursday, December 2nd was a bit hazy. I was on the
mag for 24 hours, and feeling rather loopy from it. My vision was
starting to go double, but would resolve itself - a side effect of the mag
rather than problems from the pre-e, thank goodness. I couldn't sit
completely upright, because I would get dizzy from the mag, and it was getting
harder to watch TV because I couldn't focus on the screen. John decided
to go into work for a few hours that morning (his bosses and co-workers all
declared him nuts), which in retrospect was probably good because he would've
driven me nuts. Plus it gave him something to do, and something to help
take his mind off of everything.
The important event of the day was getting the 2nd steroid
shot. Honestly, I don't understand why so many women complain about
these, or why they declare them so painfully evil. Yeah, it stung a bit,
but it wasn't nearly as bad as I was anticipating. Maybe it's all the
padding I have back there or something, but I'd take the steroid shots over the
mag any day!
We had consults with a bunch of doctors, most importantly
with the neonatologist. He was able to give us some general expectations
about babies born at 29 weeks: these babies have a very high survival rate
(over 90%), and we could expect an average of 8 weeks in the NICU. Some
form of respiratory assistance would be needed, whether it was a ventilator or
CPAP. I was told I would have to pump breastmilk for her, since she would
not be able to nurse directly for a while, and would receive her feeds through
a feeding tube. We were told to expect an umbilical line to be placed,
hopefully quickly followed by a PICC line. This consult helped a little
bit, because I was able to realize that they would do everything possible to help
her fight and thrive. Not that it took away the fear, worry, and anxiety
over her early appearance, but it was almost comforting to know that she would
be in the best of hands.
John & I went on a tour of the NICU, and were able to
see where Judith would be spending the next weeks of her life. We saw a
quiet room, had the monitors explained to us, and began to prepare mentally for
all of the tubes and wires that would be hooked to her tiny body.
Our pastor came to visit that afternoon, and it was a pleasant
diversion for me.
I was allowed to take a shower that evening, and it was much
needed - I felt so scuzzy by this point, and my hair was a greasy mass.
John laughed at me so much, and if I knew I could get away with it I
would've slugged him - because of the mag, I couldn't stand upright, and
resembled a drunken sailor trying to walk to the shower. I moved slower
than a snail, trying to keep my balance, and for the first time he had to
actually help me bathe. The shower felt good though, and it was nice to
go back to my bed feeling clean and less greasy!
With my c-section looming the following day, my oral intake
was stopped. I was without water, and was getting so thirsty, but I knew
it had to be done to help prepare me for the morning.
Friday, December 3, 2010. A date that will forever
have importance in our lives. Judith was born that morning!
We woke up knowing that Judith was arriving that day.
My c-section was scheduled for around 10:00, and our family, pastor from
our church, and the lay parish assistant from my parents' church all arrived at
the hospital bright and early to support John and me (my parents' pastor sat
with my grandmother since she was unable to make the long trip to Bethlehem).
The mag was shut off in preparation for the surgery, and
that was such a relief for me; I didn't feel the effects wear off for a little
bit, but it was nice to not have that constant flow anymore.
Naturally, they were running behind in the OR, and I was
taken to surgery later than anticipated. John looked a little silly in
the scrubs they gave him, but I was looking forward to seeing his reaction when
Judith was born. I decided that, as much as I would've liked pictures of
her birth, it was easier to not have him try to learn to use my camera so he
could get shots, and we doubted we'd be able to get any good shots since the
NICU team would have to whisk her off to stabilize her. It's a good thing
we didn't plan on it, because it never would've happened anyway.
I was supposed to get a spinal, and once that was placed,
John would join me in the OR. God bless the anesthesiologist: he tried 6
times to place it, but couldn't advance it past my vertebrae for some reason.
So general anesthesia it was, and John was not permitted in the OR.
Judith was born at 11:44 AM, weighing 2 lbs even and
measuring 14 1/4" long. Her Apgar scores were decent for a preemie:
6 and 8, I believe. More stunning was the news that she was breathing
room air, and needed little oxygen intervention. They did place her on
CPAP - the pressure was needed to help keep her tiny lungs open, and she
essentially was breathing pressurized room air (or 21% oxygen).
Let me tell you: waking up from general anesthesia after a
c-section hurts. They couldn't
start the morphine before that, and I was in the worst pain of my life.
It took a few hours for things to settle down, but once it did I was good
to go. I am sad, though, that because of everything I was unable to see
Judith her first day of life, save for a couple minutes when they wheeled me
into the NICU before taking me back to my room.
John took pictures (after me giving a very drowsy crash
course on using my DSLR), and participated in her first care times. I'm
grateful that he spent so much time with her the first day, so she knew her
daddy loves her and would be there for her. He brought reports back to
me, and I was excited to hear that she was doing well.
 |
| Judith, only a few hours old. |
I cannot believe it's been a full year since our lives were
changed so drastically. No one ever anticipates a preemie or a NICU stay,
and I truly never believed we would be in that boat. A lot has happened
over the past year, and I am thankful that Judith has done and is doing as well
as she is. She truly is a little miracle!
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