The Check Ups begin

While we waited for the Starship appointments to begin, and a VNT (Visiting Neuro Therapist) from the Child Development Team to be allocated, we focused on starting what we could with Nate developmentally. Researching the other 100 odd T9M'ers overseas, we could see that when early intervention was applied, the results over time seemed to be much much more positive. Unfortunately with resource delays and a lack of funding in NZ, that approach won't be on the cards for Nate to anywhere near the same degree :-(.

However we're obviously committed to doing everything we can to help him, and so we've started to look at what else we can do for him in NZ, both now and in the future. It's more than a little daunting, just due to the sheer financial cost and time involved, but if it means our little man can walk, talk and have a better quality of life, then it's all going to be so worth it :-).

And so for now, we read to him, sing to him, chat with him, spend loads of time doing tummy time, and encouraging him to hold his head up on his own. We have started to see some really positive signs emerging, - his communication and socialisation skills are definitely emerging (quite the social butterfly!), and while his physical movements are definitely his greatest challenge and slow in coming, there has been improvement none the less :-).

Working on that neck strength!

Learning to lift my arms up!

Side lying and chatting to the black and white pictures :-)

And not long after, Starship swung into action on the medical front.

First up, we were called in for an ultrasound on Nate's kidneys and on his clicky hip. Both are relatively common issues with T9M. There was only positive news on that front - his hip had already come right on its own, and only one kidney showed some very minor abnormalities. The only thing we were going to have to watch for on that front would be urinary tract infections. We were told that while they would re-scan over the months/years to come, no further action was needed now :-).

We were already underway with Hearing, having sat (slept?!) through a number of hearing tests. We know that at some point we will be called back in for a hearing aid to be fitted for Nate's right ear. However given that he turns to noises now and communicates, this doesn't seem to be too much of an issue for him.

We were then called in to see the ENT Doctor (Ear, Nose, Throat). She apologised for the delay in calling us in from the waiting room, remarking that Nate had quite a case history to read. I took that to mean the reading around the rare diagnosis, as he certainly doesn't have a lot of hospital notes.... yet :-(.

That appointment indicated the presence of silent reflux (which we already knew and were already giving Nate treatment for), but a quick check of his throat revealed no visible abnormalities. We mentioned Nate's past snoring and occasional heavy breathing to this doctor, which was something we had previously told the NICU Homecare team about weeks earlier and they had run an at-home oximetry test. Apparently that test had showed some abnormalities that are not uncommon with premature newborns and even babies around 12weeks, but become less common as babies get older, as most should grow out of it. As a result we were soon to be be referred to the Respiratory Team to investigate that. The ENT doctor then arranged for a further two follow up at-home oximetries be run before we saw the Respiratory Doctor, in case things had changed over time with Nate. (For those that don't know, a pulse oximetry attaches to your toe or finger, and measures the oxygen saturation while you are sleeping. Try keeping that on a moving baby who feeds, plays and nappy changes about every three hours. Hhhmm yes).

Not long after that, I had a call from the Respiratory Doctor. He had reviewed the oximetries, and felt that rather than wait for our appointment (scheduled for the middle of August), where he would likely then arrange for us to come back in for an overnight sleep study, that we should just arrange that now. It was a Tuesday, and he suggested we come in on the Thursday. He said he'd prefer not to wait. Naturally we agreed.

And so on Thursday at 1pm we duly checked in to Starship. Talk about timing. Just a few days before the move to the new ward. The old ward was pretty ick to put it mildly!

The respiratory team arrived and began to set Nate up for the sleep study. It involves being covered in wire attachments that have to stay on all night. There are LOTS of them, and it took well over an hour to do. Nate was just SO affable throughout the whole thing - smiling and chatting up a storm - as they stuck bubble-gum like stuff in his hair and over his body to stick the attachments to.

Wired but laughing!

Rigged up ready to go

Having a cuddle with mum

Unfortunately the overnight sleep study didn't go so well - Nate has what is called periodic breathing overnight, in addition to having to work a bit harder to breathe when sleeping :-(.

As a result, Nate's doctor felt that he really needed to be on Cpap when he slept, and an apnea monitor. Cpap is short for 'continuous positive airway pressure', which basically ensures his airway is unobstructed through air pressure, which makes it easier for Nate to breathe over the top of this - so it doesn't breathe for him, just takes the work out of it.

I must admit that first night/second day was pretty taxing - not a lot of sleep and then some less-than-ideal news the next day. Dad came in to support me during the day while they were teaching me about the Cpap machine. I kept it together, but I think only just.

Nate, Robin and I then spent the next three days and nights in hospital getting Nate (and us) used to using a Cpap mask and getting the right pressure set for Nate - not easy!!! Robin had one night where he paced the hospital ward for a couple of hours with a very upset wee man :-(. Luckily we had some visitors over those days to keep us company - Granny, Auntie Chris and Cousin-in-law Claire, and Nate's big sisters Mia and Ruby - which was a welcome relief :-).

Nate also enjoyed showing his sisters his latest trick - rolling from his side to his back. He'd give a huge grin each time as he performed for them! As a result the excitement in his hospital room was very loud - I am sure the neighbours thought we were absolutely bonkers getting so excited over something so small :-)

Granny & Nate in Nate's hospital room

Nate with his new green frog from his sisters :-)

The end result? Now when Nate sleeps, he uses a Cpap mask and an apnea monitor, which looks like the photo below. The pads on his face are to help him get used to it - the mask is a little bit like getting new shoes, you have to break it in.

Our little man is doing a grand job trying to get used to it - can't be nice having that thing approaching your face just as you start to drift off into happy slumber. But he is just a trooper through and through :-).

Hopefully he will grow out of needing this, as it could well be to do with his hypotonia or low muscle tone, which should strengthen over time. But regardless we will now get referred back to the ENT team, in case it is some sort of blockage in his airway that needs to be cleared. And he will need his tonsils out in time too. So more appointments to come on that front.....

 

Posted with Blogsy

Immediately post D-day

The next few days were a blur. In fact the next two weeks were a blur.

Mum and Dad came around the next day, once Mum was cleared to leave hospital. We all had a cry. We were absolutely devastated. And disbelieving. Nate was so healthy and doing so well - growing well, and starting to hit many of his milestones. It just didn't seem possible.

For us all, the next week or so was incredibly challenging.

For me personally, those weeks were full of thoughts, which I have since heard are absolutely typical in such a situation, but were incredibly disconcerting at the time. I was full of 'what ifs', 'what nows' and 'why us'. Platitudes of 'these things happen for a reason', 'you don't get more than you can handle' and 'Nate was meant to find us', seemed complete rubbish. I was angry, devastated, and I was grieving.

At first I spent hours holding, cuddling, feeding and talking to Nate, just basically willing it not to be. I couldn't stop thinking of the things that he/we might not have together in life. I'm not sure how many times I cried those first two weeks, but it was a lot.

And then I spent literally hours on the Internet researching chromosomal disorders, T9M, and every medical symptom and term that I came across along the way. I have become an 'expert' on stuff I never cared to know about - hypotonia, scoliosis, food pegs, kidney dilutions, Cpap etc etc. I found and joined a variety of closed Facebook groups globally and within NZ, and trawled through post after post to learn as much as I could. I found the other two families in New Zealand and made contact. One told me it would get worse before it got better. That didn't seem possible either. I read blogs of people who experienced similar shock diagnoses on their kids. I found poems that talked of the challenges for parents of special needs kids (see Welcome to Holland, and Getting out of Amsterdam Airport references below). I found articles on Huffington Post written by mums and dads whose children were living with a variety of disorders and the impact on their kids, themselves and their families. They were concerning. I hounded the hospital to bring our appointments forward. I hounded the Child Development Team for help. Basically, I sought to get some control over a situation that felt entirely out of control.

After two weeks had passed, I had it more together. For me, knowledge made it that bit easier.

To be fair, Robin had adjusted more quickly. He had been a rock right from Nate's early arrival, through all the challenges of NICU and Nate's growth issues, and was even more so in this week. His mantra was you can only control the controllable, and that there was no point spending time on 'what ifs'.

At that stage, only my parents and Robin's Dad Roy, knew - they were so supportive, and so absolutely committed to Nate and to us.

Around that time we made the decision to tell our siblings, all of whom live in the UK. It had to be email, as it was still just to hard to talk about. Just too raw. And once that was done, things started to get a little bit easier again. While they are all a long way away, we had their support.

Not long after that, we saw the Genetics Team, in an appointment that had been brought forward for us. They empathetically told us what we already knew, referring us to the Unique article, and to the fact there were two other families in NZ. So no magic chromosome remover there.

Then around mid-July we saw our Developmental Paediatrician, Dr Rosie Marks. By then we were prepared. Now some of the things we had seen with Nate earlier on, seemed linked. These things were by no means exclusive to a T9M diagnosis, but fitted.....his prematurity, the fact he was IUGR, his low birth weight, the hearing loss in one ear, a clicky hip, undescended testes, and his poor feeding.

I had a copy of the Unique article for Dr Marks and had made a list of every possible symptom of T9M, what we knew of Nate, and what action was now needed to check further. For example, some T9M children have obvious brain abnormalities, but Nate had had a recent MRI which had given an all-clear, so no action was needed there. However we didn't know about his heart, or his lungs, or his kidneys....and so on and so on.

Dr Marks was great - she took the list, had a read of the article, and has since set about making it happen for us. Over the next few months Nate will be checked out every which way possible. And then we will know exactly where we stand. At least medically. Developmentally there is no way of knowing - all we can do as a family is to do all that we can to help him to reach his very best potential. And that is exactly what we intend to do.

Somewhere along the way, we heard of a NZ photographer referring to kids with extra genetic material as "superheroes". Taking photographic images that showed these gorgeous wee ones at their best. A positive spin on the 'my kid has more chromosomes than your kid' (nah-nah-nahnah-nah :-)). It resonated with us.

Nate had proven himself to be SUCH a battler in making it this far - he had stopped growing in the womb at 30weeks and was struggling prior to the emergency c-section at 33weeks, he had battled low platelets since birth, had struggled to feed/grow for about 15 weeks, struggling with what we later found out was hypotonia (weak suck), and yet STILL managing to grow. He was now hitting quite a few of his developmental milestones. He was smiling, chatting, recognising faces, and fast becoming a real little character. Our little man is absolutely a superhero :-)

This blog will tell Nate's journey - of a superhero called Nate-star......

Nate-star :-)

Bib courtesy of the Normans

Welcome to Holland http://www.our-kids.org/Archives/Holland.bhtml

Amsterdam International Airport http://www.undiagnosed.org.uk/archives/512

 

Posted with Blogsy