Everyone (well those in the know with genetic conditions), say the first year is the worst. The reality of the journey into parenthood, and everything up to the first birthday milestone, is far from what you might have planned or thought (see image below!). But by the time the first year is up, you know more about what you're dealing with, the baby is bigger and stronger, you are through some of the more serious challenges of feeding, breathing, and organ complications, and some degree of regularity should have kicked in with the appointments. Well in theory anyway!
The grand master plan went astray with Nate, well before his due date. He ended up making a shock 6week-early grand entrance by c-section. After a non-routine scan that I had insisted on having (after having been so upset with Dad nearly dying only two weeks prior), it was obvious almost immediately that they were concerned for Nate. The scan on a Thursday, was followed by Friday in the women's assessment unit, and an admission to hospital on the Friday night. We were told on the Saturday morning that the baby would be coming out almost immediately. In hindsight, it is very lucky that we had the scan. Had we not, the outcome would have likely been very different.
Nate was born IUGR at a tiny 1.58kg on the 9th of March 2013 at 12.56pm. He spent 6 weeks in NICU, trying to grow his little body into his much larger head, learning how to suck-swallow and breastfeed, so that he could come off his nasal gastro tube feeds, and trying to increase his oddly low platelets. During this time he also failed his first hearing test on his right ear. At the time, we thought all these things linked to his prematurity and possibly some sort of infection that might have prompted his early arrival. However in hindsight, the IUGR, the poor feeding, the low platelets, the undescended testes, the jaundice, the larger head, and the hearing loss were ALL symptoms of a genetic condition.
Nate came home to our rental house on what had been his due date, which was the 21st of April. However within about 4weeks of being home, Nate was back on the nasal gastro feeds to help supplement his growth - he just wasn't growing as well as should be expected. As a new mum, I was of course obsessed with why my baby wasn't growing - was it my breast feeding technique? Was I or he not latching him on correctly? Was I not producing enough milk or enough quality milk? Guilty times for any new mum. Of course in hindsight the anguish over this time was a complete waste - the reality was that the answer to all of those questions was 'no' - the issue was Nate's poor suck due to his T9M and hypotonia. (And in actuality, he was doing remarkably well as most T9Ms don't manage to breastfeed. Our little hero was giving it his best shot and actually doing it!). I expressed milk endlessly for his tube feeds, continued to breastfeed, and we tried to get him to suck breastmilk from a bottle for his breast milk. Full on and tiring stuff when you consider that like any new baby he needed to be fed every three hours, but unlike every new baby, Mum then had to spend forty minutes expressing after each forty minute breastfeed, which then allowed a 'spare' 1.5 hours to sleep/eat/shower before it all began again. Hard yards.
Those hard yards all culminated in a follow-up hospital appointment to carry out head ultrasounds, cat scans, an MRI, and the famous 'shaken baby' day. I am not keen to live that again. A sleep-deprived, worried new mum, on her own in a follow-up hospital appointment, faced with 4-5 nurses and doctors, unable to leave the hospital and escorted everywhere while further tests were run. I actually began to think I must had done something. Had I put him down too hard on the change table? Could he have banged his head on the side of his cot? Crazy on reflection, but a sign of the absolute stress. Thankfully Robin got in there from work to support me, and was able to be the sensible, more rational one. The scans later revealed that he was within the realms of normal - albeit slightly less brain white matter and slightly more fluid around his brain - but it still didn't explain his poor feeding and growth. An insistent new Mum, riled up by this recent experience, then demanded that all possible tests be run, including genetics which would take a few weeks to come back. In hindsight, I remember the doctors we saw that day examining him and discussing that he had very slightly dysmorphic facial features, but I didn't register that as anything more than an light observation. Again it was actually symptomatic of a genetic condition.
The next few weeks followed favourably. Nate began bottle feeding with gusto, managing that better than breastfeeding, and we were able to stop the nasal tube feeds completely. I continued expressing to try to stockpile the freezer. Everything seemed to be looking far more rosey. I thought maybe I might even be able to leave the house again, as there would be enough time after the feed and the follow-up expressing, to get out and back again in time. Luxury! Even his re-failed hearing test, didn't really dampen our spirits. And the slight visual difference of his two ears that we had by then noticed (and which we thought was a sign of prematurity), was no big deal to us. After all, he seemed healthy and his brain was fine, and that was the most important thing. Perspective, right?
But on the 18th June at about 15weeks of age, that all changed for ever. Nate's genetic test revealed Trisomy 9 Mosaic - 27% of him (tested by blood) has a third chromosome 9 - although it is unknown as to where all these extra chromosomes reside within him. It is one of the rarer trisomies to have, entirely random in its occurrence, and doesn't even have a name other than its chromo number. Had he been 'full' trisomy 9, he wouldn't even be here with us, as there are no 'full' surviving trisomy 9s. A whirlwind of facts. Suddenly the IUGR, the poor feeding and growth, the low platelets, the slightly dysmorphic ears, the hearing loss in the right ear, the undescended testes, and the larger head, fitted with something other than prematurity.
The weeks and months that followed were a blur of appointments, tests, results, therapies, and education. We found out that while his brain, heart, and kidneys seem fine at this point in time, he does have some respiratory and ENT challenges. His airway is a challenge and so he sleeps with the aid of CPAP to help his breathing, and an apnea monitor to alert us if he stops. He has hypotonia or low muscle tone, and so will require extensive physical therapy for many years to come. Those medical findings probably seem extensive to those with 'typical' children, but in 'genetic condition world', it's surprisingly mild at this point.
It is expected that Nate will have Global Development Delay across gross motor, fine motor, communication and social/emotional skills. It is completely unknown as to the extent with which he will develop physically, cognitively or developmentally. However it is highly unlikely that he will graduate high school, live alone, look after himself, work for a living, or get married and have children himself. In fact, we were told his life expectancy couldn't even be guaranteed. Heavy stuff. And not what anyone dreams for their child. The master plan had gone well wrong.
We set about putting in place all that we could to help Nate developmentally - engaging therapists, setting an appointment routine, and carrying out daily therapy workouts. We angst over his delays in reaching the physical milestones, but celebrated hugely each time he did - rolling at eight months, sitting at ten months, creeping at twelve months (non-adjusted). Delayed sure, but not too shabby!
And so the summary of the first year.....surreal. The shock, grief, despair, guilt, anxiety, uncertainty - really the flurry of emotions - is incredibly hard to deal with. The pressure that it puts on everything else in your life is extremely significant. It's easy now to look back in hindsight and see the major effects of that pressure. And that's with a support network of my parents close by, as well as extended family reaching out from around the globe. I really don't know how people without close family nearby, survive parts of that first year. We owe my parents immeasurably for their love, care, and time.
All of that said, surviving the first year has meant there is now a greater sense of 'control'. While we can't control what ultimately happens with Nate, we can control what we learn, what we do, and how we view things. We can try to pre-empt or forward manage issues that he might one day face. It can be really hard at times to be confronted by those things and one of these days I might write about that, but in the end I think it's better to know so as to try to ensure the best outcome for Nate, than not. The first year has resulted in an overwhelming sense of love for our little man, every small developmental step is wildly celebrated (I am SURE it is sweeter for us than for others with typical kids who can logically expect those achievements), and we enjoy every single moment that we have with him. I will admit to having times of being quietly terrified of losing him to some shock thing associated with his T9M, and I can't help but cry every time I read about a trisomy child dying. I feel slightly ill even writing that. I think that my fear and the anxiety that I have on this is in many ways unnaturally high, but then given his condition, this is probably not so unnatural either.
And so we end the first year, all completely in love with our gorgeous little BooBoo. While the world of a special needs child and special needs family, is a world apart from the typical, and a world that will be filled with life-long challenges, we are just so thankful that we are at least one of the lucky ones - we actually have gorgeous cheeky little Nate in our lives.
An important fact of special relevance to end on...March is Trisomy Awareness Month globally. Why? Because it is the third month, and trisomy refers to three chromosomes. For each of the 23 pairs of chromosomes, a day is then allocated - chromo 1 awareness day is the first of March, chromo 2 the second of March etc.
Trisomy 9 Awareness Day is MARCH THE 9TH - which as fate would have it - is T9M Superhero Nate's birthday! We can only deduce from that, that Nate is intended as the poster child for T9M - to buck the crappy predictions, and inspire future T9M'ers - so watch this space for future inspirational awesomeness :-).
And thank you again to all the Superhero Supporters (see Feb post), who so kindly donated in memory of Grandad Roy, to help Nate to reach his potential. We have also officially changed Nate's name to honour Grandad Roy. It seems fitting that part of Roy is reflected within Nate, and so Nate will now be known as Master Nate David ROY Ryan-Chang.
And now....Daddy's masterpiece....here he is our beautiful little boy, year one summed up....XX
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