Feature member: Costello syndrome

Nicola is the 14th person to be diagnosed with the rare genetic disorder, Costello Syndrome.
Nicola is the 14th person to be diagnosed with the rare genetic disorder, Costello Syndrome. 

Nicola, with her blonde-brown hair, gorgeous blue eyes and cheeky smile, is a gorgeous baby. It’s hard to believe that with such a sweet little face on the outside so much is going on inside. 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 less than 300 people in the entire world that have the same condition.

Nicola is not our first child. We have a 3-year-old daughter, Jessica and a 2-year-old daughter, Isabella. They are 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; I was measuring close to full term at 30 weeks. At 34+5 I had my weekly ultrasound and was told she was, at that point in time, 10 pound 14 ounces. I saw the Obstetrician at 35 weeks who made the decision to induce labour 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 be at home that evening. That’s what I had done with the last two, so why was this one going to be any different? I was just having a baby and I had two more babies at home who needed me.  

Nicole was born weighing 8lb 14oz or 4.015kg. She was 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. In that moment I just knew she was mine. I loved her and she was perfect.  

We just had to go home with a hope and a prayer she would recover from each cyanotic episode, or that we could call an ambulance in time.

As they went to cut her cord, the cord fell off the placenta and everything started to go pear shaped. I saw my mum walking across the room, holding Nicola very carefully and talking to one of the specialists. Suddenly Nicola was put on a heating bed and wheeled toward the door. I was later told she had suffered a seizure. It was many hours before I saw her again.

She only stayed in the Special Care Nursery for 15 minutes before being transferred to the Intensive Care Nursery. She was hooked up to monitors and machines and a CPAP machine to help her breathe properly and maintain oxygen levels.  When you dream about having a baby, you don't dream about seeing them in a humidicrib, hooked up to machines, struggling to breathe. You don't comprehend the feeling that comes with losing such a pivotal moment in your new child's life. 

It was Sunday before I held her again. We organised through the Hospital Chaplain for the Priest to baptise her. She did well off the CPAP so the nurses decided she could stay off for the Baptism ceremony. She maintained her saturations well through the afternoon, and it was decided they would downgrade her to special care. We were ecstatic! Only 24 hours earlier we were told she would be in Intensive Care for 3 weeks and she was proving them wrong already! She was cruising through and not looking back…or so we thought.

At 3am the next morning one of the overnight doctors called us at home to tell us our little fighter had been transferred back to Intensive Care. Her oxygen saturations had dropped and she didn't recover on her own. She was struggling to breathe and was put on CPAP again. We had taken a step forward and huge flying leaps backward. I was devastated.

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She was in NICU for two and a half weeks and was subjected to a never ending barrage of tests. Everyone knew there was 'something' wrong with her, but no one could put her into a box. We were told she had dysmorphic features and was likely to have Down Syndrome, 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 echocardiogram showed she had hypertrophic cardiomyopathy, but they expected 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 ECGs showed an occasional irregular heartbeat, but that was shrugged off as not being of consequence.

The Genetics specialists came. They asked a hundred questions and took a hundred photos and shrugged their shoulders saying they just didn't know. Then they realised 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 caffeine? 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 responsible for what my precious daughter was going through. 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 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. 

She was a very poor feeder, right from the beginning.  She couldn't breastfeed 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 we could find and nothing seemed to make a difference. On the 4th day we had to take her back to be weighed again. 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.

Within days of being admitted to RCH, it was discovered that not only did she have 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. 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 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 five long months, but finally the test came back negative. I spent five 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. 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 severe milk protein intolerance. She couldn't tolerate any milk proteins at all and had to be started on a special synthetic formula that her body could break down without reacting to. Another two weeks at home and 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.

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 as it 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 not even worth thinking about. 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.

48 hours later, Nicola turned blue seven times in five hours. After the second time we rushed her to the emergency room and she was admitted again within fifteen minutes. That was Friday afternoon. By Monday morning she was not herself at all. She was pale and listless, 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 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. 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 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 she has an atrial septal defect. 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 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. He said I would see her in 15 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 starting to get frantic. Finally, they called me in.

Nicola failed to recover from the anaesthetic properly. She needed adrenalin to help her come around and her heart was going absolutely crazy. Instead of going onto the ward as 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 her bedside, 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 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. Oh, and by the way, the test for Costello Syndrome had come back positive. 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 stops? If you have, you know what I'm talking about. That 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 my beautiful precious baby girl. It still seems so hard to comprehend. I felt like I was 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!

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 any of the cancers that plague these poor children in childhood and adolescence. That she won't live a life of pain and suffering.

All of a sudden, I'm playing a new and different game and 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 Colin understood, and was there for me. He told me about the syndrome and about the Conference and medical symposium that they were holding in Berkeley. To start with, we decided 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 came to the realisation that we were alone.

One thing that Colin 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 decided to fundraise to get the money and within a month we knew we were going to have enough. We left Australia on the 27th July. My two oldest daughters stayed with family, so it was just Michael, Nicola and I. 

Walking into the conference was overwhelming. Before we reached the reception desk we were accosted by a group of Costello kids. They were all so bright and happy and everyone wanted to see the baby. We started meeting parents and had the most amazing experience! 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. Everyone was so supportive and so incredibly friendly and helpful.

We learned that Nicola is very big for a Costello baby. One of the doctors there was so surprised at her size he had to measure her twice. Apparently a 'normal' baby grows about 25cm in their first year of life but a Costello baby normally only grows 10 - 12cm. Nicola is 11 months old and has already grown 21cm. There was another little girl we met there named Maggie. She was a gorgeous little thing, about the same physical size as Nicola but she was 3-years-old.
 
The information sessions were incredibly informative. 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. So what else did we get out of the conference?

We learned that there is a lot of hope for our baby. We met Costello people who are grown, who live independently and functioning well in society. We learned that there are people who understand. They may be on the other side of the world but they are now part of our family. I cried when I had to leave because being there, being part of that group, was like being with family.

We spoke with the specialists about Nicola and her unique situation and learned new ways to help deal with her. We came back armed with information, new referrals and knowing we had support. We have contact details for all of them and the promise that we can contact them at any time for their help, to ask them more questions, or just to double check that what our medical team here is doing is right.

We also learned a lot of scary information. A normal child has a 1 in 1200 chance of developing a cancer called rhabdomyosarcoma but a Costello child has a 1 in 5 chance. In Costello children it’s estimated to be 10 times faster growing and malignant. Costello Children have a 1 in 2 chance of developing Chiari malformations, so proper ongoing neurological care is essential. Costello Children are prone to early onset Osteopenia, Osteoperosis and Arthritis, scoliosis and kyphosis.

We learned more about the pain side of it. Costello children have a significantly lower pain tolerance threshold. They feel pain for no reason. Their bodies generally just hurt a lot, which is part of the reason they are such irritable children. They also metabolise medication much faster. Where panadol will usually be effective for several hours, in a Costello Child it works for maybe a quarter of the time. They are often prescribed much stronger pain killers like morphine and oxycodone to help cope with daily pain which Nicola has been on for a few months.

The next conference will be in 2011 and the expected location is Chicago. We have made a decision that NO Australian Costello family will be left out because they cannot afford to go so we will be fundraising for everyone this time. Thankfully there's not that many of us!

Nicola is now nearly 15 months old and in the past few months we’ve had one cancer scare. She has also been diagnosed with moderate to severe Chiari 1 Malformation and we are currently waiting on a date for her to have decompression neurosurgery. 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.

Despite all her problems, all her pain, and everything she has to cope with, she’s a bright, happy and amazing little girl who has celebrated her first birthday. Hopefully she has many many more of them to come. 

Leave a message for Jo and Nicola in our Feature Member forum.