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.

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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.  :)