And I'll be your friend
I'll help you carry on
For it won't be long
'Til I'm gonna need
Somebody to lean on
Lean on me by Bill Withers
And so it was, I had Pinkie and she had her boy.
After several months she noticed that her boy wasn’t progressing as she thought he should, but being a new mummy didn’t worry too much. By the end of the first year she knew, but convincing a doctor was a different story. By the time her boy was about eighteen months, everyone agreed that her boy had some problems, but only because she had pushed for tests that had shown he had Smith Magenis Syndrome.
I would still see my friend regularly across the driveway and as time marched on, I could see that she was coming unravelled. Everything that was wrong with her boy was labelled as part of his syndrome, and she would be handed a leaflet for a rare syndrome support group, nothing specific, just a group of parents all supporting each other by not having any answers.
It wasn’t until one of his recurrent chest infections caused him to go blue one afternoon that anything really started to happen. He was rushed to hospital where his O2 sats were measured at 60%. It transpired they had been that low since birth and treatments and actions were finally put in place to help him.
During this time Pinkie was thriving; she had undergone her poo bag reversal and was wearing stripy tights and a cheeky smile (see blog post Pinkie’s first Christmas 31/12/15). I was still a nervous wreck, too scared to look further than tomorrow, but we were managing, and a big, no huge part of being able to manage was the support we had around us. I’m not even talking about family or friends, I’m talking about our fantastic CF team. If Pinkie was looking a bit peaky I’d speed dial my CF nurse, if she had a greasy bum I was on to the dietitian, if Blue looked sad I was on to the psychologist - I had a whole laminated list of professionals that I could call upon any time I needed to. My friend was just as well to write a message in a bottle and chuck it into the sea;
“SOS - can anyone help me with my baby?”
So while I’m sorry that Pinkie has this horrible disease at all, I’m think we are extremely fortunate that we live in a country where 10,800 other people have it too, and all of those people are getting the care they need from health care professionals that could work as saints or angels at weekends.
My friend’s boy is one of a much smaller group and although they have great support from SMS Foundation and Facebook Families now, if her boy was taken in on a blue light to a local hospital today, no one would have heard of Smith Magenis Syndrome. As is the way with lots of Medical Mummies, she is the local expert.
So, the next time we go for a CF MOT and bring cakes for our favourite nurses, and stroll along the corridor full of brilliant minds all working for our common goal, I’ll remind myself that although we have the proverbial Pseudomonas* stick, the Cepacia** stick is always looking for a new home too.