Tuesday the 18th June 2013

Out of the blue, I got a text from Wendy our Homecare Nurse from NICU, who had discharged us the week prior. We had got to know Wendy over our 12 weeks with both NICU and Homecare, and we enjoyed her visits with us. Wendy asked if we were still coming in the next day (Tuesday) to meet with Doctor Frank Bloomfield, one of the NICU Paediatricians. We were meant to have a 'discharge interview' with Frank and pick up a final report for Nate's GP, so we had been expecting this appointment to happen at some stage.

I text back and said that no we weren't, because the previous Friday the hospital had rung and cancelled that appointment. They had re-confirmed an appointment time for early August instead, and also told us that Frank had referred us to a different doctor for this. We hadn't thought anything of it at the time, other than it was annoying that it was now scheduled for a time when we would both be back at work. However given Nate had next to no issues to follow up with a GP on (a clicky hip that would likely soon right itself, hearing loss that we already had a plan around, and an undescended testes that should again right itself), we weren't concerned on the delay.

Wendy text me back and said that no that was a mistake, and Frank was still expecting us to see us. She specifically asked that I make sure Robin was coming too. Knowing Wendy, I knew straight away that something else must be up.

That night wasn't good. Both Robin and I were concerned, but we had no idea what to expect.

We arranged to meet at Starship shortly before lunch. It turned out to be a very short meeting. Frank was upfront in letting us know that a test that had been run some weeks prior (back when Nate had had his ultrasound, cat scan and MRI), had now come back. It was a genetics test. The test had revealed that Nate had an extremely rare chromosomal condition. So rare in fact, that only about 100 cases were known about globally. Nate had been diagnosed with Trisomy 9 Mosaicism (T9M). We were shocked, and had little comprehension of what he was saying.

Frank advised us that because it was so rare that he had had to go on to the Internet to get an understanding himself, and that while he would try to answer any questions we had, he had already referred us to the Genetics Team (the upcoming August appointment) who would be much better placed to answer any questions that we might have.

He briefly explained that everyone had 46 chromosomes, a pair of each chromosome, numbering from 1 to 23. One from Mum, and one from Dad. In some instances, issues occurred in the first few days after conception - sometimes instead of 2 chromosomes there were 3, or sometimes there were duplications of genes within chromosomes, or deletion of genes within chromosomes. When the issue was around an extra third chromosome, it resulted in disorders like Trisomy 21 (the most common, and referred to as Downs Syndrome), Trisomy 18 (less common than DS, and known as Edwards Syndrome), and Trisomy 13 (again less common, and known as Patau Syndrome). In Nate's case, an issue had occurred with his pair of chromosome 9, whereby instead of having 2 chromosome 9s, Nate had in some cases 3 chromosome 9s. Hence the 'Trisomy 9' name. However his condition was so rare, that it didn't even have another name associated with it.

The extra chromosome 9 wasn't consistent throughout Nate though - only 27% of Nate (tested by blood) had 3 chromosome 9s, the other 73% had the correct 2 chromosome 9s. Hence the additional 'Mosaic' name. Full Trisomy 9s (ie non Mosaic) are not thought to survive the pregnancy or their first year of life.

Frank explained that not only was T9M extremely rare with only 100 known cases globally, it was also entirely random as to when or why it happens. Effectively we had just won a global lottery.

He asked us if we had any questions. We were shell-shocked. I felt sick.

Robin asked if the diagnosis was conclusive. It was.

I asked about life expectancy. Frank couldn't answer. He said that due to the mosaic aspect, it was impossible to know in advance how he would be affected, as the affected genes or cells would be somewhere within him, but unknown as to exactly where. Because of this, there were some individuals that were profoundly affected, while others were only mildly. The level of Mosaicism also had no bearing on impact, ie a child affected by 6% could be more affected than a child affected by 40%, it was all about where the genes/cells were. It would be a waiting game.

He told us that Nate would be looked after by a team at Starship - doctors specialising in all different areas, like heart, ear/nose/throat, and so on, as well as the Child Development Team - and all led by a Developmental Paediatrician who would be assigned to us. This team would check Nate out over the next few months (and ongoing), and form an action plan where needed.

He had the article that he had found on the Internet but was loathe to give it to us. He stressed it was only on 14 known and extreme cases, and that there were likely to be many more people out there with T9M in milder undiagnosed forms. I told him that I would find the article anyway, and he might as well give it to me. He did.

That afternoon and night was much much much worse.

I read the article. It was appalling. It was a medical article that had not one positive strand of hope to cling to within it. I sat at home while Robin was at work, and cried.

My Dad rang my phone late afternoon (almost unheard of), and I answered in tears. I struggled to get the message out, only for him to then tell me that Mum was in Hospital overnight due to her high blood pressure. It was spiking and they had admitted her out of concern. Really things couldn't have been a lot worse. I insisted he not tell Mum out of concern it would make her condition worse. We decided to hold off until the next day when they had her blood pressure under control.

I spent the night researching T9M. I found Unique in the UK, who specialise in rare chromosomal conditions. They had a 20page document on T9M that was based on about 60 known cases. It showed a wide spectrum of variation as to how the condition could show itself. While some things seemed to be common - such as poor feeding, and hypotonia (weak muscle tone) which resulted in both walking and talking challenges - other aspects were extremely varied. Some kids were profoundly affected. Others considerably less so.

The diagnosis was still completely unwanted. And at that stage not really believed, or even accepted by us. Absolutely devastating. But while the article was disturbing, it at least showed that there was some degree of hope.

http://www.rarechromo.org/information/Chromosome%20%209/Trisomy%209%20mosaicism%20FTNW.pdf

The most precious little man in the world

 

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Happy times! Maternity leave as it was intended!

With Nate starting to grow well, things soon became a lot more settled, and a lot less stressful. Now all we had to contend with was tiredness and the prem thing, all of which seemed entirely manageable.

Nate was now 12 weeks old, nasal tube-less, and loving his new bottle. And within a month, we soon had over 5weeks of week-on-week solid weight gain! While still small, he was tracking well on his growth curve. We were extremely pleased :-)

With this growth, Nate's energy levels were also increasing weekly, and he was starting to show his personality more and more. He was proving to be such a character, and a complete chatterbox!

Pretending to pedal!

Cheeky!

We started to do more and more things with Nate....reading him books, having big chats, going out for walks in the neighbourhood, and even going out together for a weekend brunch. With Granny babysitting, I even managed a couple of days back at work. This was finally maternity leave as it was supposed to be!

SO excited to read with Daddy!

Big smiles after a big chat!

En route somewhere....

We also started to have a few more visitors, and Nate proceeded to charm all with his cheeky smiles, his noisy chatter, and his social nosiness (although in these shots, he looks worn out with all the excitement!). We also sent lots of photos and regular 'Nate Updates' to our families overseas.

Hanging with the gramps!

Four generations of Ryans!

Nate and his big sister

Everyone was completely smitten with our gorgeous wee man, but no-one more so than Robin and I :-)

Nate's first Mohawk :-)

Our beautiful boy!

We started to interview potential nannies, while at the same time overseeing our house renovation which was starting to pick up pace - in this time we finalised the kitchen, the bathrooms, and the wooden floors. Exciting!

In fact things were going so well by now, that the NICU Homecare Team advised us that they were now discharging us. We looked forward to not having weekly nurse visits and even more time to ourselves, and thanked them for all of their support to date.

And then, all of a sudden, everything changed.

 

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A growth challenge :-(

Over the next four weeks at home (Nate was between 8-12weeks old, and had been home since he was 6weeks old), we focused purely on growing.

The early period of this time, was characterised by a challenging feeding schedule that consisted of 30mins breast feeding, followed by a nasal tube top-up which took between 20-30mins, after which I would go and express milk for 20-30mins for future tube top-ups. Every 3 hours the whole process then had to be repeated again. It was exhausting! There was little time for us as parents for anything else, including sleeping, eating and showering.

The pressure was also intense. Every week the NICU Homecare Team, would come and we would wait with baited breath to see if our boy was holding his own. Talk about stressful!

However it was working and Nate began to make weekly weight gains, started to have more energy, and was able to spend a little more time awake with us :-)

Multi-tasking! Feeding AND reading!

Watching footy with Daddy

Well not always awake......but there physically!

My first Mothers Day came and went in this time, and Nate splashed out on a huge bunch of flowers for me :-). Life seemed to be getting slowly sweeter, even with the lengthy feeding regime.....

Hanging with my gorgeous big sisters

Within a couple of weeks of being at home, we were then called back into Starship to follow up on Nate's failed hearing screening. Unfortunately Nate failed the repeated test, so Robin and I were called in yet again for two more comprehensive tests. If you've never taken a baby for a hearing test, then you're missing quite an experience! The baby needs to sleep through the whole thing, and so you are put in a very small, very dark, and very quiet room, while electrodes are placed over the babies head to measure the responses to sounds. Just the attaching of the electrodes takes a good twenty minutes alone. Both Robin and I sat beside Nate, struggling desperately to keep our eyes open throughout these hour long appointments :-). How people work day-in day-out in those offices, neither of us could understand.....

The outcome of these tests was that Nate was found to have a permanent hearing loss in his right ear, an issue right inside the inner ear. We were advised that he effectively had one and a half ears, and that while speech development would not be a problem, he would ultimately need a hearing aid as he would likely struggle with multiple voices in a setting like a daycare.

Naturally we were upset. What we had assumed was just a random fail (especially as Nate reacted to sounds at home, jumping and startling with noises just as any baby would), had turned into a conclusive outcome. That took some adjusting to - something that didn't fully come about, until after a later incident.

More cuddles with Mummy

Within this period, we returned to NICU for some check ups and tests, given that we were still under their care. We had had concerns over Nate's struggles with oral feeding and growth since we had come home, and so his paediatrician undertook a few tests to see if there was anything else going on such as an infection.

One particularly stressful day involved me taking Nate for an ultrasound of his head, which revealed a brain bleed. At that point, I was told that an 'investigation' into his brain 'injuries' would be undertaken, and that I would be unable to leave the hospital as there was a suspected shaking of the baby. You can imagine a sleep-deprived, stressed-out, new mum's reaction - distraught does not even begin to describe it.

Robin came in from work straight away, and Nate was then taken for a cat scan which showed that the brain bleed was in fact an old bleed (our paediatrician told us this was likely to have happened when he was in the womb, and that this was not uncommon), which indicated there was no 'shaken baby' incident. A follow up brain MRI a few days later also showed Nate's brain to be within the realms of normal, bar some very minor observations, and of no risk of ramifications from the past brain bleed, or any risk of future brain bleeds.

I can't even do justice to how horrific that day was. We were hugely relieved to put it mildly. And now incredibly thankful that all we had to contend with was a moderate hearing loss in one ear.

Nate's 'glad your noggin is ok' outfit from Granny and Grandaddy!

 

Thankful that there was nothing else going on, we focused on keeping Nate growing. However we also wanted to make sure that we didn't have to rely on the nasal tube to do this in the mid to long term. Nate needed to come back to full oral feeds, and to maintain the benefits of breast milk through breast feeding (especially as expressing breast milk long-term for nasal tube feeds, was unlikely to be sustainable over time).

Because of this, we started to slowly reduce the volume within each nasal tube top-up feed, encouraging him to breast feed more. This was a fine balance, as we attempted to help him gain weight and build his strength for breast feeding, while at the same time weaning the nasal feeding out.

It was over this time that we discovered a different bottle - one that was designed for babies with a weak suck, which enabled babies to feed with a lesser degree of energy. We gave it a shot, and Nate loved it! All of a sudden Nate started to take larger feeds, and we started to see a marked difference in his weight.

Not long after this, we moved to fully bottle-feeding expressed breast milk, and over time we shifted to a combination of formula and breast milk feeds all via his bottle. We were so relieved to have got Nate's growth fully under control :-)

 

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