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Nicola, with her blonde
brown hair, gorgeous blue eyes and cheeky smile, is a gorgeous
baby. Just looking at her, it’s so hard to believe that, with
such a sweet little face on the outside, that there is so much
going on inside… but there is.
Nicola suffers from a
very rare genetic condition called Costello Syndrome. She is
the 14th person to ever be diagnosed in Australia, and there are
only an estimated 150 people in the world with the diagnosis.
Nicola is not our first
child, we have a 3 year old daughter named Jessica and a 2 year
old daughter named Isabella. They are both bright, happy,
healthy, precocious little girls who are far too smart for their
own good!
That’s why Nicola’s
condition came as such a surprise to us.
Before she was born we
had no idea anything was wrong. We knew she was big, she was
far bigger than she was supposed to be. I was measuring close
to full term at 30 weeks. At 34+5 I had another weekly
ultrasound to measure her growth and was told that she was, at
that point in time, 10 pound 14 ounces. I saw the Ob at 35
weeks who made the decision to induce labour the next day.
Even then, we still
weren’t worried. We went home from the Ob’s office and rang my
mother, who promptly freaked out and cried down the phone that
she would be there that night. So that night, while waiting for
my Mum and Sister to fly in, my husband Michael and I packed a
little bag and talked about what was going to be happening the
next day.
We had it all planned
out. I was to be at Birth Suite at 7am. My plan was to have
the baby around lunch time and then be back at home that
evening. Really! That’s what I had done with the last two, so
why was this one going to be any different? Why would I stay in
hospital? I was just having a baby… and I had two more babies
at home who needed me. Besides, the best way for them to adjust
to the newest addition to our family was for me to take her home
so we could be a family.
Michael, Mum and I were
at Birth Suite at 6.30am. There were no complications, no
problems. The midwives did some basic obs on me, checked blood
pressure, temperature etc, and then told me to go downstairs,
grab some breakfast and come back in about 30 minutes and they’d
take us through to our Birth Suite.
We finally got to our
Birth Suite around 9am and after another quick round of
observations, and given the fact that I was already 4cm dilated,
they decided that the best way to proceed was to break my waters
and bring on labour that way. The problem was, after breaking
my waters, nothing happened. Nada. Zip. Zilch. Not even a
twinge.
The midwife left it for
nearly two hours before suggesting that we try the Syntocin drip
to see if that would kick things up. I agreed, the drip was
turned on and I was getting contractions within about fifteen
minutes. The problem was, they were irregular and not really
effective, according to the midwives. 20 minutes later though,
they kicked in with a vengeance.
The Syntocin was turned
off because it had done it’s job… labour wasn’t that far away,
maybe a few hours at most? This was when the Midwife decided to
tell me that because I was only 35 weeks we had to have a
paediatrician here when I delivered in case there was a problem
with the baby. Really not a good thing to tell a woman in
labour! It was about 5 minutes later that my contractions
slowed down again and became even more irregular with gaps of up
to five minutes between them.
The midwife decided that
she was going to go and have a break and when she got back we
would turn the Syntocin back up again. She left us with a
student midwife and reassured us that she was only about 20
metres away, if anything happened we just had to hit the
emergency button and she would be here in two seconds.
She had been gone maybe
five minutes when it happened. I was struck with the most
sudden, fierce urge to push. I remember saying “The baby is
coming!”
The student midwife was
surprised. She dropped her cup and said “Wait! Stop!” and
turned around and hit the emergency button.
I remember half
screaming, half growling “I can’t!” and with one push, Nicola
shot into the world.
By the time the Midwife
was back in the room, Nicola was making her unhappiness at the
change of scenery very known.
Because everything had
happened so quickly, no one was quite prepared, so Nicola was
picked up and placed on my chest, something that now I am
incredibly grateful for. It gave me a chance to cuddle her, and
to look into her beautiful blue eyes… and in that moment I just
knew that she was mine and that I loved her and she was
perfect.
She was taken off me and
wrapped in blankets and handed to my Mum because I was having
other problems. As they went to cut her cord, the cord fell off
the placenta and everything started to go pear shaped. I
remember seeing my Mum walk across the room, holding Nicola very
carefully and talking to one of the specialists that had just
come in… but I had no idea what was going on.
The next thing I know,
Nicola is being put in one of those warmer bed things and
they’re wheeling her toward the door. They told me that she was
being taken to the Special Care Nursery just to be assessed.
The Midwife reassured me that everything was fine and I would
have her back in a few hours, but right now I needed to focus on
finishing my part of it.
It was many many hours
before I saw her again, and even then, it was not at all what I
had expected.
She only stayed in the
Special Care Nursery for 15 minutes before being transferred
across to Intensive Care Nursery. Her respiratory problems
weren't improving and her oxygen saturation levels were dipping
low. She was hooked up to monitors and machines and a CPAP
machine to help her breathe properly and maintain oxygen levels.
When you have a baby, you
envisage lots of things... you dream of that first cuddle, the
first time you look into their eyes, inhaling that newborn
scent...
You don't dream about
seeing your child laying in a humidicrib, hooked up to machines,
struggling to breathe. You don't comprehend the feeling of loss
that comes with losing such a pivotal moment in your new child's
life.
It was Sunday before I
got to hold her again. We had organised through the Hospital
Chaplain for the Priest to come and baptise her. Before her
baptism they let me take her out of her isolette and off the
CPAP machine to bath her for her special moment. It was her
first bath, and I was too afraid of hurting her to enjoy it.
She did well off the CPAP,
so the nurses decided that she could stay off for the Baptism
ceremony. She maintained her saturations well through the
afternoon, and then it was decided that they would downgrade her
to special care instead of Intensive Care. She was obviously
improved!
We were ecstatic! It was
only 24 hours earlier that we were being told that she would be
in Intensive Care for 3 weeks or so... and here she was, our
baby girl, proving them wrong already! Defying the odds!
Special Care was the next step to going home! She was cruising
through and not looking back... or so we thought.
It was 3am the next
morning when one of the overnight doctors called us at home to
tell us that our little fighter had been transferred back to
Intensive Care again. Her oxygen saturations had dropped and
she didn't recover on her own. She needed to be bagged and a
medical alert was called. She was struggling to breathe.. and
she was put on CPAP again.
We had taken a step
forward... and then we had taken huge flying leaps backward. I
was devastated.
After that she would be
in for another two and a half weeks, during which she was
subjected to a never ending barrage of testing. Everyone knew
there was 'something' wrong with her, but no one could put her
into a box. We were told that she had dysmorphic features and
was likely to be a Downs Syndrome baby... but the test was
negative. Her complete metabolic workup showed nothing that was
truly unexpected . She had two EEG's and an MRI that were both
normal. An echo showed that she had hypertrophic
cardiomyopathy, but they expected that her seizure at birth was
a glucose seizure from a glucose challenged pregnancy and the
cardiomyopathy supported that theory. She was tachycardic, but
they weren't concerned about it. She had always been
tachycardic. Three ECG's showed an occasional irregular
heartbeat, but that was shrugged off as not being of
consequence.
The Genetics specialists
came. They saw... they asked a hundred questions and took a
hundred photos and then shrugged their shoulders and said they
just didn't know.
Nothing seemed to really
fit into place.
Then they realised that
she was 'jittery', and that was when the questions started. One
of the doctors cornered us in the nursery one night and started
asking me questions about my pregnancy and lifestyle. Did I do
drugs? Did I drink alcohol? Did I consume copious amounts of
coffee or caffiene? Did I take medications? The answers were
all the same. No, no, no, no, no... I avoided everything I was
supposed to and had a relatively healthy pregnancy... with the
exception of the occasional slice of pepperoni pizza or soft
serve! They almost interrogated me, and then walked away
leaving me feeling like I was the one responsible for what my
precious daughter was going through.
Was it really that one
slice of pepperoni pizza I had when I was six months pregnant
that caused all of this?
No one could tell me
anything... no one seemed to know.
But regardless, she had
done her three weeks in the nursery and she was breathing on her
own. She seemed to be feeding well, but she was struggling to
maintain her weight. Still, after 24 hours in parentcraft, we
were allowed to go home on the condition that we had to bring
her back every two days to be weighed.
Taking her home was a
phenomenal experience! Just to have all three of my children in
the same room at the same time and not having to worry about
doctors or nurses or machines.
We took her back for her
first weigh in after being home for two days and she had gained
2 grams. Such a tiny amount, but it was still a gain and that
was all that they had stipulated! So we got to keep her home
again.
She was a very poor
feeder, right from the beginning. She couldn't breastfeed and
so I was expressing every two hours to feed her from a bottle.
She just didn't seem to be interested in feeding. We tried
every combination of bottle and teat that we could find, and
nothing seemed to make a difference, except our bank balance was
creeping down lower and lower.
Finally, on the 4th day
we had to take her back to be weighed again... this time we
weren't so lucky. She had lost 20 grams. She had to be
readmitted.
Because she had been
home, she now posed an infection risk to other patients in the
nursery so we were sent to the Royal Children's Hospital.
To anyone that saw me on
that first day, it was really clear that I did NOT want her to
be there. In retrospect, I was almost downright hostile. They
stuck us in the baby ward, which meant that my other children
couldn't come and see us, all they could do was look through the
window and wave to the baby. Because the big girls couldn't
come in, that meant my husband couldn't come in either, as they
couldn't be left unattended.
We were initially told
that we could go down to a lounge and spend time there as a
family, then it was decided that we couldn't because there was
the risk of passing around infection. Then we were told that we
could go down to the Wonder Factory, but again, they changed
their minds and decided that the risk of infection to Nicola was
too high. So the best we could do was for me to wait until she
was settled and then rush outside and spend a frantic 20 minutes
at a time playing with and cuddling my big girls before rushing
back to the ward again.
Within days of being
admitted to RCH, it was discovered that not only did she have
the hypertrophic cardiomyopathy, she also had valvular pulmonic
stenosis, which is what caused the heart murmur, and most likely
the tachycardia. They also found that she aspirated on oral
feeds, so she needed to have all her feeds thickened. Most of
her feeding difficulties were caused by her inability to suck
properly.
That was pretty much the
same path that the first seven months of her life followed.
One admission after
another, more 'features' were diagnosed... but it was like a
jigsaw puzzle... we were finding more and more pieces, but we
were missing the front cover to tell us what the actual picture
was.
In October they decided,
after the full extent of her heart issues were realised, that
she had a condition called Noonan Syndrome. The bloods were
taken and sent to the USA for gene analysis testing on the
PTPN11 gene.
We had to wait 5 long
months, but finally the test came back negative. I had spent 5
months preparing myself for the fact that my daughter had this
one condition because that's what all the doctors said it was
that she had... and they were wrong.
We were home for about
three weeks after that, before she was readmitted via the
Department of Emergency Medicine after she started bleeding from
her bowels and was diagnosed with a severe milk protein
intolerence. She couldn't tolerate any milk proteins at all and
had to be started on a special man made fully elemental formula
that her body could break down without reacting to.
After that we were home
for a couple of weeks and then she was readmitted because she
started refusing all feeds. After struggling for weeks under
medical supervision it was time to admit defeat. The naso
gastric tube was put back down.
Then in early February we
were in her hospital room and the geneticists came in. They
told me that they thought she had this condition called
'Costello Syndrome'. I knew what it was, it was one that had
popped up a few times in my earlier research. I almost laughed
at them. There was no way that my daughter had that condition!
The odds of her having it were astronomical! Besides, it was
all bad... there were so many things that were horrible about
it... it was just not even worth thinking about.
Besides, they had been
wrong before, they would be wrong again.
After that we spent
nearly 3 straight months in RCH. Every time we got her health
stabilised, something else would come up and set her off again.
We got the feeding issues
resolved by putting down a nasogastric feeding tube, and then
she started having cyanotic episodes.
The respiratory team was
called back in again to assess her. They talked for a little
bit but then decided that they didn't think it was worth
pursuing at that point in time because the episodes still
weren't real bad. We were sent home.
48 hours later, Nicola
turned blue 7 times in 5 hours. After the second time we rushed
her to the emergency room and we were admitted again within
fifteen minutes. That was Friday afternoon. By Monday morning
she was not herself at all. She was pale and listless and
spiking huge fevers that wouldn't come down. The respiratory
team came in to assess her. As soon as the doctor touched her
she let out a strangled cry and her oxygen levels dropped to the
low 40's.
Within minutes they had
called in more specialists. They had her on oxygen again and
the decision was made that she must have some kind of physical
obstruction in her airways... she had to go into theatre again
so they could have a look.
It took a month to get
her a theatre date, and then we were cancelled at the last
minute and postponed for another week.
Finally, her trip to
theatre determined that she had tracheamalacia. When she was
unwell or stressed or had other things going on within her body
she struggled to keep her trachea open. There was nothing we
could do about it. We just had to go home with a hope and a
prayer that she would recover from each cyanotic episode, or
that we could call an ambulance in time.
Once the cyanotic
episodes were controlled, her heart problems became worse. A
follow up with her cardiologist determined that the pressure
gradients in the pulmonary chambers of her heart were far too
high. They also discovered that she has a atrial septal defect
that acts as a bidirectional atrial shunt. When she gets upset
and the pressures intensify in her heart, the blood mixes the
wrong way and her oxygen levels destabilise.
The cardiologist decided
that it was time to take immediate action and she was booked in
for a valvuloplasty - a balloon catheter to tear the pulmonic
valve in her heart and widen it. She was admitted on the 12th
May and went into surgery first thing in the morning. I was so
scared when they took her in... even though she had been in
theatre plenty of times before, this was the first time they
were tinkering with her heart, and I was terrified.
I had been in the parents
waiting room for about two hours when finally the cardiologist
came in to see me. He sat down and told me that he thought
everything had gone well but they wouldn't know until they did a
follow up echo the next day, but regardless, he was happy and
they were taking her through to recovery and I would see her in
about fifteen minutes.
An hour later, I still
hadn't been called to recovery. Every other parent in the
waiting room had collected their children and gone again... but
I was still waiting and I was starting to get frantic. Finally,
they called me in.
Nicola had failed to
recover from the anaesthetic properly. She needed adrenalin to
help her come around and then her heart was going absolutely
crazy. Instead of going onto the ward like we had planned, we
were rushed to critical care so she could have one on one
monitoring. Every time the alarms sounded, which seemed to be
every thirty seconds, we had a new surge of people rushing to
the beside, until finally, we had about six people standing
around watching her heart rhythms and oxygen saturations.
They were throwing around
terms like 'heart attack' and 'pre-excitation' and emergency
surgery'.
Finally a new
cardiologist was called in. He leaned against the edge of the
bed while I cuddled Nicola in my arms and started talking to me
about what was going on. He explained that while the surgery
went well, there were complications. The adrenalin had made her
heart crazy and they were worried she was going to have a heart
attack. They were giving her some ultra strong sedatives to
help slow her heart rate but if that didn't work she would
likely need emergency surgery and we needed to be prepared for
that... Oh, and by the way, the test for Costello Syndrome had
come back and it was positive, so yeah, that was it. She had
Costello Syndrome. Did I have any questions? No? Ok, see you
later then..."
And he was gone.
Have you ever experienced
that one moment where the whole world just stops? If you have,
you know what I'm talking about... the moment where everything
in the background kind of blurs away. You feel like your heart
has stopped beating, but you know it is because it's beating so
loudly it's drowning out the rest of the noise in the vicinity.
You can feel sweat pricking on your body, but your insides have
just turned cold. You have no strength, no will, no desire, no
ability to focus, think or comprehend more than just one or two
words...
For me, those words were
'Costello Syndrome'.
This is the name of the
great big evil horrible thing that is affecting me beautiful
precious baby girl.
It still seems so hard to
comprehend. I fell like I'm in an emotional train wreck.
Really, how does a person
come to terms with the fact that their child, their precious,
sweet, innocent baby, has this horrible syndrome, that is not
only life threatening, it is also incredibly rare, so no one
really knows anything about it!
When you have a child,
your heart gets filled with all these hopes and dreams... you
hope that your child grows up and does well in life... that they
get a good education and a good job and meet a good person and
have a good relationship and God willing, they start the cycle
again so they get blessed with their own precious children, and
they get to experience all the joy that they have brought to
your life.
With those few little
worlds, it felt like all my dreams for Nicola had been snatched
away. Instead of dreaming that my child grows up to have a happy
and prosperous life, I found myself dreaming that she will just
grow up... that she will be one of the lucky ones who doesn't
have to deal with the neuroblastoma or rhabdomyosarcoma or any
of the other cancers that plague these poor children in
childhood and adolescence, that she won't live a life of pain
and suffering, that she won't suffer in some horrible way.
All of a sudden, I'm
playing a new and different game... the problem is, no one has
told me the rules.
We were discharged with
the advice that our regular doctors would be in touch. We were
told genetics would see us at ‘some point’ in the future. We
were told that someone would provide us with information.
Nothing of real help was
forthcoming.
Then I joined the
International Costello Syndrome and spoke to another parent for
the first time. Talking on the phone to him I just broke down.
But he understood, and he was there for me. He told me about
the syndrome and about the stuff that it involves… and finally,
after a huge discussion, he told me about the Conference and
medical symposium that they were holding in Berkeley.
To start with, we made
the choice that we couldn’t afford to go… but as the first two
weeks crept past with no support or contact from our doctors or
hospital, despite our repeated attempts to phone, we made the
realisation that we were alone.
One thing that Colin had
told me kept coming back to me. The first years of a Costello
Baby’s life are the most difficult. It’s the first years that
make or break their future. We had no support here, so we had
to take matters into our own hands. We had to go to the
conference. We had to take our baby to America.
We made the decision to
fundraise to get the money to go, and within a month we knew
that we were going to have enough. We booked our tickets and
made all of the plans.
We left Australia on the
27th July. My two oldest daughters had already gone to North
Queensland to stay with my family, so it was just Michael,
Nicola and myself.
Walking into the
conference was overwhelming. We hadn’t even gotten to the
reception desk at the hotel when we were accosted by the first
of many Costello Kids. She stopped in front of Nicola and I
felt like I had been sucker punched in the gut. I was
confronted by the startling truth that this was what my daughter
had in store... and in that moment I didn't want to do it. How
could I deal with a child who was so clearly disabled? I'm
ashamed to admit that I recoiled... I wanted to run away, to
turn my back on everything. Perhaps if I could turn my back and
walk away, then none of this would really happen. It wouldn't
be like this, my baby could be different.
Then they were
everywhere, these kids seemed to just appear, and they were all
so bright and happy and everyone wanted to see the baby, and
then I started to realise that it wasn't all that bad.
Then we got to start
meeting parents and we had the most amazing experience! We had
a feeling of belonging. After so long of having to explain
everything to everyone, we were suddenly surrounded by people
who just ‘knew’… and it was incredible!
When Nicola cried for
three hours in the middle of the second day of the conference,
there were no admonishing looks or condemnation… all we got was
understanding, because everyone had been there and done that.
Everyone was so supportive and so incredibly friendly and
helpful.
There was a huge 'family'
dinner on the Friday night and that was when we really got to
see what the Costello kids are like. They're all so much fun and
they have such happy dispositions.
Everyone just adored
Nicola. There was a photographer there, Rick Guidotti who used
to be a world famous fashion photographer. He now dedicates his
life, through his company Positive Exposure, to positively
promoting the beauty of people with genetic and medical
conditions. He is just the most amazing person!
Normally every time
Nicola see's a new face she just screams. He got right down in
front of her and she just smiled and cooed at him. He started
taking photos of her and she just turned into a right little
pose artist! Seriously! This is the kid who if I take out my
camera she howls and arches away from me... and for him she sat
there and smiled and gooed and carried on. He even managed to
get her sitting up and still kept her happy! And the photos were
just incredible! I can't wait until I get a copy!
Saturday was a mix
between the conference and the medical symposium. It was
generally a chaotic day, but again, incredibly informative...
and Sunday was a lot of just getting to know other families,
asking final questions of the specialists and saying goodbyes.
We left the US with more
understanding, not only about our daughter, but about her
condition and what we had ahead of us, and we had a very long
fight looming, but it didn't seem quite so scary any more. We
had people that understood us, people we could turn to who would
offer not only their support, but their understanding.
We got back from San
Francisco on the 9th August to find a message on our answering
machine from the hospital telling us that they had changed their
minds and they wanted Nicola to undergo biopsies for a mass that
had been found in her bladder. They had scheduled the procedure
for the 11th August.
Our first theatre booking
got cancelled at the last moment due to lack of ICU beds and
because of her extreme risks with anaesthesia she couldn’t go
into theatre unless they had an ICU bed available for her. We
spent 10 days completely freaking out about what was going on
because they were so concerned about this mass in her bladder
but couldn’t get her a theatre booking again. Finally, after a
huge fight with them, they managed to get her a theatre place
and in she went.
After all the stress and
worry, it turned out that she has what they call a malformed
ectopic urethra, so it’s perfectly normal tissue! Thank
goodness!
We got her home after
that and went through a round of bronchiolitis.
On the 5th September she
celebrated her first birthday! It was an incredible day. It was
a quiet celebration with just our little family, but it was an
amazing day for us. There had been so many times in the past
year that we never thought we would make it to that point. The
milestones of her first year included 7 ICU admissions, 125 days
as an inpatient at RCH. Over 100 hours on CPAP, and 18
additional days on supplemental oxygen. Countless MRI’s,
Ultrasounds, X-rays and blood tests and four trips to the
operating theatre. Two different diagnosis’, one seizure and one
cancer scare.
On the 8th September she
was scheduled for surgery again. She was to finally get the PEG
that we had been waiting for since March! (the one we were
promised we would get within 4 weeks!)
She went in on the 8th
September and was the first person on the afternoon theatre
list. The surgery itself only took about two hours to do the PEG
and the fundoplication and then while she was still
anaesthetised she was taken down to medical imaging for a head
and spine MRI. She finally made it back to ICU at about 6.30pm.
Two days later she seemed
to be recovering from everything really well and they were
talking about moving us to the high dependency unit for a
further 48 hours of observation. All the paperwork was filled in
and then she spiked a fever of 40 degrees Celsius. They realised
that her temperatures weren’t just a post surgery blip, there
was something wrong. It was time to go looking. By Saturday
things were getting more intense. She was in respiratory
distress. A chest xray showed that her left lung had collapsed
and her right lung was only partially inflated. They called us
into the little room and explained that they felt it was best to
ventilate her. Supplemental oxygen was not working any more, she
needed further support. Their plan was to keep her heavily
sedated and ventilated until they could find what was causing so
many problems in her little body.
24 hours later we had our
answer. She had a small tear in her oesophagus that was leaking
air and fluid into her plural cavity. Her little chest was
filled with ick and both her lungs had collapsed. It was Sunday
and they had a team of surgeons standing by waiting to take her
straight into theatre.
Three hours later she
returned to ICU, her little body painted yellow and two massive
drains (think pieces of pipe the size of garden hoses!) had been
stuck into her chest between her ribs to keep draining away
anything that was leaking into her chest. After 4 days of having
temperatures in the low 40’s it finally dropped to the high
30’s. We were so excited! We were getting somewhere! And then
two days later her temperature climbed again.
One of the chest drains
had blocked. She was taken back into theatre again to have her
chest cleaned out and new drains inserted.
That was pretty much how
we spent the next 3 weeks. In and out of theatre, on a
ventilator in ICU as her body fought one infection after
another. She started with pneumonia then developed staph, strep,
and entracoccus.
Because she couldn’t eat
anything and they couldn’t put food into her stomach with the
constant trips into theatre, she was put on TPN which is
basically nutrition going into her blood via IV access. So she
had to have a PICC line put in, which ended up clotting and
causing a large occlusional DVT in her left femoral vein.
In amongst all of that,
the results of her MRI came back. Within a couple of hours we
had Neurosurgeons standing at her bedside telling us that Nicola
had a severe chiari malformation of her brain and they wanted to
operate as soon as she was recovered.
Finally, three weeks
after the initial surgery they took her off the ventilator and
moved her back to supplemental oxygen. Her chest was mostly
clear of infection and her lungs had started to reinflate. They
moved us from ICU to HDU and we were there for another week
while they weaned her off not only the oxygen, but the insane
amounts of drugs that she was on. It was not fun watching her go
through withdrawals! They started giving her methadone instead.
All the while, her oesophageal tear still had not healed and she
still had two whopping great chest drains in.
As soon as she was off
the supplemental oxygen and back to breathing room air, Nicola
was transferred to a post surgical ward. OMG, I have never been
so glad to get into a normal ward! And then she developed
another bout of bronchiolitis, and reminded me exactly why I
hated the wards so much!
6 weeks and 6 days after
her initial surgery we got the news that a CT scan showed that
the oesophageal tear had healed. We could go home!
It was late October when
we finally got to take her home and we could be a family again.
We had been given a date for her neurosurgery for the 15th
December. November was spent in a haze, trying to keep her
isolated from everyone else so that she wouldn’t get sick, only
to have her come down with yet another round of bronchiolitis!
The start of December she developed extremely high fevers and
was rushed into the emergency department.
They initially thought
that she had septic kidneys and spent a short time in isolation
on one of the ward receiving IV antibiotics but all their lab
tests failed to herald any kind of infection. It was decided to
do new cancer screenings, just in case. Her surgery was
cancelled.
Thankfully she got the
all clear and she was rescheduled for her Neuro surgery on the
19th January.
It was a very scary 5
hours... they originally went in to remove her first vertebrae,
but after getting in there they discovered that her chiari
malformation was so severe and had been there for so long that
her cerebral tonsils had become necrotic. They had to remove
5mm of her cerebral tonsils.
The day after the surgery
she seemed to be doing really well, but then by Sunday it had
started to fall apart again. The surgery site wasn’t healing
and she had developed a CSF leak.
At 2pm Sunday afternoon
she was rushed back into emergency theatre and had a VP shunt
put in, which is basically a device that is inserted through her
brain and runs down into her perennial cavity and drains the
excessive cervical fluid from her brain straight into the cavity
around her gut.
So now she will set off
any security sensor because she has a magnet inside her head and
she can’t go near any strong magnetic fields for fear of
disrupting the shunt and changing the flow.
9 months on from being
given her diagnosis and I look back on the road we have
travelled. In her very short little life, and so far Nicola has
endured 11 admissions into Intensive Care, over 200 days as an
inpatient at Royal Children’s Hospital, Over 200 hours on CPAP,
2 months of supplemental oxygen, countless MRI’s, Ultrasounds,
X-Rays and Blood Tests, multiple blood transfusions, one seizure
and one cancer scare, as well as 14 trips into the operating
theatre.
Every day, Nicola deals
with Hypertrophic Cardio Myopathy, Valvular Pulmonary Stenosis,
Patent Foramen Ovale with Bi-Directional Atrial Shunt,
Tachycardia, Tracheomalacia, Cyanosis, Severe Gastro Oesophageal
Reflux, Failure to Thrive, Hyponatremia, Malabsorption, Oral
Aversion, Dysphagia, Vallecula Malacia Chronic Pain, Chiari
Malformatio, Hydrocephalus, Cutis Laxa, Hyperkeratosis,
Hypotonia, Hyperextension, Developmental Delay, Nystagmus,
Hyperopia, Urethral Malformation, Spinal Lipoma, Femoral
Occlusional DVT, and Osteopathic issues which are still being
investigated.
But despite everything
that she has been through, and despite all her problems, all her
pain, and everything she has to cope with, she’s a bright, happy
and amazing little girl.
Her medical team
currently consists of Paediatric Intensivist,
Gastroenterologist, Respiratory Specialists, ENT Specialists,
Cardiologist, Paediatric Surgeon, Orthopaedic Specialists, Neuro
Surgeon, Neurologist, Pain Management, Stoma Therapist,
Physiotherapist, Occupational Therapist, Speech Therapist, and
Dietetics, and she is in the process of being referred to
several more teams. Our life has literally become a whirlwind
of appointments, therapy and specialists.
She has intensive therapy
every week for all parts of her day to day life, from feeding to
moving. We have a constant stream of medical appointments, and
even having her at home we still seem to spend most of our lives
at the hospital.
So much of our life is
invested in Nicola and her care and our existence literally
revolves around her and her needs around the clock. We get no
respite. There is no one to step in and help with her when it’s
too much. We are 1500km away from our family, and living where
we are we have no friends. Even if we did, she screams if
anyone goes near her. A life time of being in and out of
hospital and poked and prodded and suffering has generally
taught her that people will cause her pain.
But, out of all of that,
the worst possible thing that we deal with every single day is
the isolation of dealing with a condition that no one has heard
of.
If we had had a child
with a more common medical condition like Downs Syndrome, Autism
or Cystic Fybrosis there would be support groups in almost every
city. There would be any number of people we could meet with,
any number of support groups we could go to, other parents we
could chat with for advice or information, and any number of
shoulders we could cry on when things got rough.
With only 150 people in
the world actively diagnosed with Costello Syndrome, and maybe a
dozen here in Australia, there is very little support
available. That is why the support that comes from the Costello
Kids Support Group conferences is invaluable. Not just for the
medical information that we get to bring home, but for the
social aspect of it as well. Just being able to stand in a room
with other people and have them say “I understand.”
It gives us, as families,
a chance to be able to sit with other people, to talk about our
experiences, to catch up with each other’s lives and medical
developments... but most importantly, it gives us a chance to,
just for a couple of days, not feel so alone in a world that we
don’t necessarily understand.
***************************
I never really took the
time to grieve for what I had lost, because almost immediately
after being given her diagnosis I was thrown into fight mode.
Instead of just being her mother, I found myself becoming her
advocate, her voice, the defender of her innocence... with the
occasional lapse into medical advisor and legal representative.
I had to become fluent
in a language (medicalese) I had never even thought of before.
My laptop became my constant companion with Dr Google hot linked
to my homepage. When I wasn’t fighting for her needs, I was
researching her needs, learning about her condition, and seeking
support from the International Support Group.
Early on in this journey
I found a quote:
If you lose hope,
somehow you lose the vitality that keeps life moving.
You lose that
courage to be, that quality that helps you go on in spite of it
all.
And so today I
still have a dream
I can't afford to lose
hope... so I have my dream. I don't let anyone tell me I'm
wrong, I won't let anyone tell me that I can't achieve what I
want to achieve... but all I want to achieve is for my daughter
to have a happy life. That is my dream.
I'm not writing this
because I want sympathy, or anything else. I'm not looking for
accolades or applause. I'm just doing what I need to do. I
don't think I'm incredible or amazing.
My daughter is the
amazing one. :)
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