John and me Expecting Hugo

My Hugo bump!

Until 13th January 2009 I had never heard of CHARGE syndrome. Its funny how quick life changes and now CHARGE is such a huge part of mine and my Husband John’s life.

Hugo James was born on January 10th 2009, our first child and as we now put it, he threw us in at the deep end!

It was so weird but I knew from early on that we were having a boy. I cant tell you why I knew, some people perhaps don’t believe it, but I knew he was a boy and that is why at about 14 weeks pregnant I named the bump Hugo.

During my 20 week scan it was detected there was a problem with the baby’s heart, we were referred to Great Ormond Street Hospital and were told that he had a very serious heart condition called Tetralogy of Fallot.
The doctors and nurses were fantastic and extremely helpful in giving us information, we were offered some different options. Because of the type of condition there was a greater risk that the baby could have a genetic disorder such as Di-George syndrome or Downs syndrome. An amniocentesis ruled out Downs syndrome and Di - George syndrome. We continued with the pregnancy blissfully unaware of what lay ahead - and looking back now, for that we are incredibly grateful.

Four days before Hugo’s birth John was diagnosed with chicken pox and told he could not be present at Hugo’s birth, to say we were devastated was an under statement!
On Friday 9th January 2009 my waters broke. When I look back at that night I often reflect on what a strong and brave man I married. It must have been so hard for John watching me leave while knowing that he was going to miss his first child’s birth, especially considering the situation we were in.
It broke my heart saying goodbye to him and even now when I think of it I always feel sad, it almost seems an omen of what was to come to us.
We had planned everything so carefully for our stay away from home and Hugo’s birth, but never did it occur to us that anything would come between John seeing Hugo born.

In labour waiting for Hugo to arrive!

Preparing to go to theatre

Hugo James was born on 10th January 2009 at 6.17pm by emergency caesarean weighing 7lb 2½oz, he was pink in colour, had no apparent blueness and looked to me perfect, it took me a few seconds to hear him, his cry was so quiet. He was shown to me and I noticed that one of his eyes was wide open, while the other tightly shut. These were my only fleeting concerns. I was shown him quickly and then he was whisked off to SCBU where he was put onto prostaglanson drug to help keep his ducts open and his heart working. After seeing him in SCBU I noticed that one of his ears was a different shape to the other.

Newborn Hugo

Hugo On SCBU

The following day Hugo was transferred by the Children’s Acute Transport Service to Great Ormond Street hospital. One of the CATS team mentioned to us that it had taken a while for them to pass a tube down Hugo’s nasal passage, she asked us if we had noticed any thing different about Hugo, we mentioned his ears but that was all.
Thankfully the hospital had allowed me to go with him only 24 hours after my caesarean, promising to take it easy and not over do it, John was still not allowed to come with us so my Mum also came with us. We arrived late at night and it was very daunting walking through that famous hospital with a team of professionals trying to explain what was about to happen. After seeing Hugo in the cardiac intensive care unit I left for some rest and sleep.

The following morning on my arrival at Hugo’s bed side he had a horrible looking mask over his face, I was told this was CPAP and was helping him to breath a bit better, it looked horrible and was squashing his nose, Hugo blatantly didn’t like it either.

Hugo on CPAP my first hold with him

Later that day Hugo had to be fully ventilated after dropping his sats and becoming bradycardic during an ultrasound. We were told that while doing the ultrasound scan on Hugo they found he only had one kidney, he had also had eye tests which showed him to have significant sight problems and it was likely he would be severely sighted possibly blind.

It was at this point I started to become a little concerned that things were not quite as straightforward as expected.

That evening John was finally allowed to come to the hospital after getting the all clear and I had to tell him the news about Hugo.

The following day we were told that Hugo was showing all signs of having CHARGE syndrome and was very ill. I think that any one of the parents with a CHARGE child will say the same, nothing prepares you for finding out that your child has a something wrong with them. You have two choices, fall apart, or pick yourself up and carry on.
We took the latter.

Hugo’s TOF had changed from first diagnosis and he now had Pulmonary Atresia, not stenosis. This meant that he had to have a shunt inserted ASAP.
A day later he went down for surgery to insert a shunt allowing blood to flow from the heart to the lungs. The operation went well and within days Hugo had come off the ventilator and was on the road to recovery.

2 days after surgery to insert a central shunt.

Our first family photo and hold of our baby boy

Hugo one week old

At 7 days old Hugo was moved off of the cardiac intensive care and up to the cardiac ward HDU.
We were making plans to return home with our son and loved calling family to let them know how well everything was going.

Hugo at 8 days old, in our eyes we were on our way home - how wrong could we be?

Hugo and his Daddy having a lovely cuddle

On Monday 19th January Hugo went into respiratory arrest, he collapsed in John’s arms and a crash call was given, very quickly the room was filled with people and they were trying to resuscitate our baby. Hugo was rushed back into CICU. This was the start of four months of living in the unknown.

For 8 weeks Hugo remained fully ventilated on full life support, he had numerous procedures to try and find out what was stopping him from staying off ventilation. We were told he would need to have a tracheotomy, (thankfully he didn’t) he had queried aspiration, was diagnosed with vocal cord palsy, facial palsy, had a ph swallow study, and 48 hour ECG tapes.

An MRI diagnosed a small cerebellum and Brain stem hyperplasia - Dandy Walker syndrome. We were told he was on the severe spectrum and would probably struggle with mobility and learning difficulties.
He was diagnosed with Hypoparathyrodisim, and put onto supplements.

Hugo continued to deteriorated and became weaker and weaker. During a routine procedure to insert a new central line Hugo had a cardiac arrest.
Things really didn’t look very good and we now ‘lived’ at GOSH. I never left Hugo’s bed and John only went back home when we needed to sort out our pets who were in kennels.

Hugo and Mummy in CICU

Hugo managed to come off ventilation on 19/02 onto a CPAP prong, he came off CPAP on 23/02 and to our delight and was moved off CICU to HDU on 2/03.
We were understandably nervous about him leaving intensive care and the one to one nursing, we also didn’t feel that he was strong enough, something both John and I felt. For some reason we just knew that Hugo still wasn’t right and call it instinct but we had a feeling our journey wasn’t over.

For three weeks Hugo remained on the Cardiac ward, he had major feeding issues, failed to tolerate volumes and rate changes, which meant he frequently vomited. He continued to have de-sats and go grey/blue, many times he was checked over by doctors but no one could say why it was happening and so we were slowly being pushed in the direction of home. We were told Hugo needed to have a gastrostomy and because we were waiting for a slot to do this it held off our leaving date.

Hugo and Daddy on the cardiac ward. Hugo looking very 'blue'

On 20/03 Hugo had a very worrying turn, he became tachy cardic and was unresponsive, after being checked over we were told he was ok and it was nothing to worry about, his heart rate went back to normal but he was reconnected onto a monitor to keep an eye on him. He started to need oxygen wafts to bring his sats back up and something told me that things really were not right!

Hugo needing his oxygen waft!

On 26/03 Hugo began to really struggle, the doctors discussed him having a respiratory problem. He continued to need regular suction and he began to de-sat each time with his hands and feet going blue. At around 4.20pm he had a big de-saturation, the doctor was just outside his room and ordered a blood gas and started to do an ECHO.
Hugo was ok for a time but became more distressed by the ECHO. His sat’s were dropping lower and lower and had dipped into the mid 40s%, it had become very scary. The Doctor then told us that he could not see the shunt clearly and was worried there was a problem. A crash call was given and we again had a room full of people very quickly.

We were then asked to leave the room and the doctor explained that he was not able to see the top of the shunt and Hugo was being taken down to CICU where he would be ventilated until he was stable. We were eventually allowed into CICU to see Hugo after he had been incubated. He was hooked up to so many drugs and was heavily sedated, he looked awful, we were both physically shocked by his appearance. We were told the next 24 hours were critical and if he deteriorated they would have to operate on his heart.

The following few days were awful. Hugo was given an accidental overdose of heparin which masked the real problem and we had a couple of days of uncertainty. He was given more Echo’s and none of the doctors could now see a problem with his shunt, eventually it was decided that he had to have a CT scan.

Finally it was confirmed that his shunt had failed and he would need to have the full Fallot’s repair as soon as possible.

On April 6th 2009, weighing just 3.98kg, Hugo was taken down for his full repair, something we had been told would not happen until his was a lot bigger and stronger.
We had been warned it was a very risky operation and not everyone was happy with it going ahead. Hugo had a higher risk of death after the operation due to his CHARGE problems and was expected to need peritoneal dialysis as his single kidney was likely to suffer after bypass.
After just over 6 hours Hugo was bought back to the ward, it had taken over 2 hours to get a central line in before surgery and they had ended up having to put it into his atrium.
When we first got into see him, John and I both asked why he was so red and were told that he was actually just pink, we had become so used to seeing him grey/blue. He had sats of 100% it all seemed too good to be true.

Hugo and Daddy, this was taken just 4 after his full repair

Hugo’s recovery was slow, he suffered a phnumothorax on his lungs, liver problems and problems weeing but thankfully his kidney stood up to the bypass and he stayed of dialysis. He also had a chylothorax which meant having to change him onto monogen milk. He had a Picc line inserted and came down with a number of infections but just 15 days after his full repair Hugo left Intensive care for the third time.

Our first family photo and hold after Hugo's full repair

He spent another month on the cardiac ward slowly recovering.

Hugo's first smile caught on camera while in the HDU

We were given more diagnosis’s for Hugo, Genetics testing confirmed he had CHARGE, he was diagnosed with Bulbar palsy, Swallowing problems and we were told it was unlikely he would ever eat orally. Two weeks later Hugo had a gastrostomy.

Hugo waiting to go down for his gastrostomy

The following week we finally left GOSH after 123 days for our local hospital and life started to regain normality.

On 27th May 2009 John and I bought our Hugo home for the first time, it was a milestone day and one we will never forget.

Our first photo at home