This post was written within an hour of doctors leaving. I hadn’t yet read the information leaflet they gave me, done any research or informed anybody else of the diagnosis.
Yeah so. Today is Thursday 23rd November. We had a list of healthcare professionals to see today; the health visitor, Jaxon’s lead consultant and the geneticist. When they said his lead consultant would come along with the geneticist, I absent-mindedly thought it was convenience and nothing more. Then they came in together and I’m all smiles because it 5pm and I’ve got a list of questions about my medical mystery child and the next steps to finding a diagnosis. And then boom
Geneticist: “So we’ve had some results from one of the genetic tests we sent”
I knew there had been some negative results filtering through, I’d been told about these unhelpful negative results that were great because they meant he didn’t have an awful disease but useless for diagnosis that could give us some answers and tell us what to do next
Geneticist: “We have a diagnosis. Do you want to sit down?”
Shit. My heart dropped to my stomach. I totally hadn’t even thought about this. Of course that’s why they were coming together. How could I have been so stupid?
I sat anxiously, leaning way too far into the circle/triangle we had formed, in between my camp bed and Jaxon’s cot. A booklet with “rarechromo.org” in the bottom right hand corner and “Understanding chromosome disorders ‘Unique'” at the top was in the geneticists hand, held out to me. In the middle of the front page, above photos of 3 individual children:
“1p36 deletion syndrome”.
1p36? Deletion? Syndrome? Firstly, it sounded like a robot out of star wars, some distant relative of R2D2 (despite the situation this makes me laugh because my cousin was here just the other day and referred to Jaxon as R2D2 with all his nasal tubes for feeding and oxygen. I dunno, maybe it was a had to be there thing. Nice to have a thought to smile about though!).
But seriously. What the fuck? Who has heard of that? I haven’t. A deletion? Like his conception involved him being typed up like this word document and someone deleted a section before saving it?
So the geneticist goes on to tell me this isn’t bad. It isn’t progressive – he isn’t going to get worse and die. ‘1p36 deletion’ explains the majority of problems we’ve experienced the past three months; developmental delay, floppiness, feeding difficulties, kidney reflux, and more. Good news Kaytee, he’s going to be okay. His floppiness and muscle tone should hopefully improve. Developmentally he is going to need support with learning, at this point “special school” is mentioned. He tells me it is extremely rare, there’s maybe 4 or 5 people in the city with this, and maybe 50 in the country. Seizures may be to come in the future but not to a severe extent. Because it is rare it’s difficult to compare children or say how severely he will be affected, or what will be affected.
I should be jumping for joy right? I feel like a terrible person for not being over the moon. In all honesty I feel like my brains going to explode. My emotions are torn between relief and worry. My son does not have the disease we all thought he had that would end his life so soon. My brain is telling me this is great news, my brain is telling me to be happy, it’s telling me I can relax, my son is going to be okay!
But my heart feels heavy and confused. “Special school”? I thought “special” wasn’t used anymore? But wait Kaytee, would “learning difficulty school” feel any better? No. Truth be told I prefer special, he is special. Special to me is a glamourised way of saying learning difficulty or disability. Like it makes him more important or more loveable because he needs more attention. Like when I used to work at Subway and my job title was “Sandwich artist”. Nice right?
The other thing I got caught up on is that although Jaxon has been unwell pretty much his whole life, these major genetic tests only started when his hypertrophic cardiomyopathy came in to play, and this diagnosis did include a cardiomyopathy but not the type Jaxon has. Seriously? So this could be because it’s so rare no ones been reported for this type of myopathy YET and Jaxon will be the first of more to come. Or it could be that all though these tests were to find the cause of his gigantic heart, we’ve discovered a diagnosis separate to his heart problem. Can we really be that unlucky?
Oh yeah AND SDHB. The geneticist added he has this SDHB, whatever that is, missing. Which has been known to cause tumours. He’s okay now though. They aren’t found in babies. Maybe 40 year olds? And so from around 5 years of age he’ll send a yearly urine sample to check for chemical secretions of a tumour.
So essentially, it’s not really surprising I’m feeling mixed emotions. The relief of him not having a progressive disease is masked by the long-term aspect of life long developmental delay and it’s implications on his quality of life. Along with the remaining uncertainty about his heart. I guess I was hoping for a diagnosis that said everything was going to be okay. A result that told us something that was curable or fixable. A result that said you know what the past three months have been hell but it’s over, it was a temporary blip and you’re going to live happily ever after. But instead, I’m still taking my son home with an unexplained, enlarged heart that could stop at any moment.
So yeah. 1p36. Whatever that is. My robo child has. Or doesn’t have? It’s deleted?
Mind. Blown. Someone take this head of my shoulders, it hurts.
Please comment with your thoughts and opinions reading this. Your feedback is what keeps me posting and writing is proving to be a helpful therapy for me right now. A therapy I wouldn’t be indulging in without your interest.