D-Day

So, this week is rare chromosome awareness week, and I’m attempting a blog-a-day in the spirit of raising some awareness around the impact of a rare chromosome disorder on every day ordinary life with our everyday ordinary family.

I thought I’d start at the beginning, seeing as much of the focus on social media today is on D-day- diagnosis day.  I can’t remember the actual day or time we received our news, but I do remember not having the first idea what any of it meant. And I also remember how I felt. There had been almost three years of appointments, therapies, watching my baby boy’s future unfold into an entirely atypical toddlerhood and fighting to get medical professionals to listen to my concerns in the lead up to D-day.

When B was born, he was dead. Clinically speaking. His Apgar score was one, and when he was placed into my arms he was the same grey-blue colour as a dolphin. Unfortunately due to all my babies being back-to-back, and the odd labouring pattern this brings about, I only had a student midwife present at the delivery since they thought I would be pushing a lot longer than I actually was. After what seemed like an eternity the student midwife pulled the emergency buzzer and a whole paediatric crash team came bursting through the door. I had just enough time to watch S’s wavering expression as he weighed up staying with me versus following our lifeless newborn outside as they worked on him beyond my view. He went with B, which I am forever grateful for. B was small and vulnerable and he needed his daddy.

Apart from some hypoxic shock (where your blood gets too acidic since it’s been transporting carbon dioxide rather than oxygen around, and your body tries to compensate) B pinked up nicely after being bagged and we were allowed home the next day. Or, as is the case in a lot of overflowing maternity wards, politely moved along! We proudly took our beautiful firstborn son home, but B was unlike any of my other children- while the girls had to be constantly upright and watching the world go by, B lay on his playmat disengaged and disinterested in his surroundings. The girls sat up at five months and continued to hit every milestone far earlier than their peers; B was floppy like a ragdoll and didn’t manage to hold his head up properly until around nine months. The girls were constantly babbling and chattering, while B made no noises at all. The only way I can describe it is he seemed to be born without instincts; no recognition or crying for hunger or tiredness, and no outward need to be held or interacted with.

He also did this odd little thing from time to time where he would suddenly go blue, pedal his arms rigidly, and stop breathing. Me, being the no-nonsense mum that I was, presumed it was just a wind issue or something because he would always return back to normal afterwards. I was concerned enough to mention it at his eight week check-up though, and the doctor looked at me like I was crazy. Right on cue, B decided to show off his skill and the GP freaked out and sent us straight to A and E. Absolute utter parent fail. He then did it again once we got to the ward and the whole place erupted- they whisked him from me and worked on him to get him breathing again. I was completely mortified- I’d been letting this go on for eight weeks, and given the reaction of the hospital staff, this was clearly NOT the right call on my part. Ooops. We were admitted and discharged a week later no closer to unravelling the mystery, but had been made to undertake resuscitation training should the need arise. B continued to stop breathing at random moments throughout the first year of his life, and it became the norm for us, although B has scared the shit out of many a Joe Public in his time!

One chaotic episode followed another and it became increasingly clear our little boy was far from ‘normal’. We were referred to Great Ormond Street to test for muscular dystrophy, but that came back clear. B had weekly physiotherapy which (slowly) helped build up his strength. Our community paediatrician was entirely unhelpful and wrote me off as a neurotic parent since I was so young and as she saw it, slightly Google-happy. I, however found the world wide web a brilliant source of help. I did a lot of research around B’s symptoms and kept coming back to autism. Heading to the National Autistic website I noted B hit every single one of their 16 red flags for autism. Armed with this, I went back to the community paediatrician and argued for an ASD screening. She reluctantly agreed, even though she had labelled him with Global Developmental Delay which seemed to satisfy the medical professionals involved with him. GDD is a term given when a- they have no idea what is going on with your child or b-can’t be bothered to investigate what is going on with your child. It describes the symptoms and not the causes of a child’s delays, and in terms of accessing services is pretty useless.

Unsurprisingly, B aced the autism screening and came out with a clear diagnosis of autism spectrum disorder (ASD). He was 26 months old, and all I felt was floods of relief. It was something I’d known for a long time, and while it didn’t change anything, it paradoxically changed everything. Now there was a cause, a reason and we could arm ourselves with a strategy.

Yet I still had a niggling feeling in my gut. A feeling that while ASD was part of the picture, it didn’t explain everything. There were too many other weird and wonderful things about B that were not encompassed by that diagnosis alone. So I carried on researching, and fighting to get B a karyotype. A karyotype is a blood test that sets out a persons chromosomes under a microscope to screen for any abnormality. Things like Down Syndrome, Fragile X, and Angelman’s Syndrome- all examples of disorders where too much or too little of certain chromosomes go on to have serious implications in the bodies and lives of those affected individuals. My community paed sensed I wasn’t the kind of person to give up easily once I had convinced the rest of B’s therapists to support me, and she eventually agreed to do the test. Blood work was sent off to London and usually took a few weeks for results, so we waited. The medics told me there was a 90% chance it would come back showing nothing, since autism and global developmental delay often occur in otherwise healthy people with normal chromosomes.

A few weeks later. D-day. B was almost three years old. The phone rang, and it was the paediatrician from the local hospital with the long-awaited results. Something had come up on the test. As she continued her words blurred and I heard splinters of information but struggled to focus on the whole call. Too much chromosome 15….. maternal side……rare…. geneticist……not much known……a handful of cases in the UK. I hung up the phone and a numbness washed over me. What the fuck did this mean? As I googled duplication 15q syndrome and read over the information I found, I went through every emotion imaginable. Shock, fear, grief, despair, sorrow, anger, relief, vindication. I had fought this all the way, and I was right to have done so. My child was different. Every cell in his body had too much chromosome 15 material which explained all his difficulties. But this was super rare, and not much was known about it. What was known was horrible and very hard to read. Seizures, autism, risk of sudden death, recurrent infections, mobility problems, severe communication delay, profound learning difficulty…. The list went on.

Finally gaining a diagnosis had plucked me from Uncertainty Street and whisked me super speed straight over to Planet Unknown. And then the real journey began…..