Pirate Power: Why Rare Disease Patients and Parents Test Authority

My eldest, a girl aged eight, is very prim and proper. She likes getting 10 out of 10 in her spelling tests, finishing all her homework and getting certificates. She would be mortified to arrive late for school, and she refuses to break any rules ever. If her teacher said it, then it’s gospel.

I tried to give her 200 baht to take as pocket money on a school trip once, but she refused to take more than 100 baht because that was the amount stipulated in the trip details letter.

What a goody-two-shoes.

Unfortunately, being a swot is great for her school grades, but I’m worried about when she grows up and meets real life.

In my opinion, you need a touch of “pirate ways” in you to make sure you don’t get screwed over in life. Sometimes, you have to break the rules. Quite often, authority is a load of old rubbish and needs to be questioned.

This becomes even more apparent when you spawn children who need fending for. Even more so when one of them is in need of extra help. A bit of pirating goes a long way.

I learned this with my eldest son. He was born with kidney problems, and his left kidney was so badly damaged that, at the age of three, he was scheduled to have an operation to remove it. On the day of the operation, he had a fever and the doctors said that the operation would have to be rescheduled.

As his mum, I knew that he was getting recurring infections because of the damaged kidney. I had charted a year’s worth of infection details, along with all the different antibiotic treatments. It was all color coded on a wall calendar. I argued with the doctors that taking out the kidney now, would remove the infections and there was no point waiting because this was a vicious circle.

So convinced of my case, I even continued butting in while the doctors were discussing it among themselves. They looked a little taken aback, I remember.

In the end, they took out the kidney, and touch wood, my eldest son has not had a UTI (urinary tract infection) since. This year is the first year of his life he hasn’t been on prophylactic antibiotics. The doctors told me they wished every parent kept records like me.

One nil for being mouthy then. I swear I wasn’t always like this.

My daughter and I went to a shop this week. The door was open, but it had a sign on it saying the shop was closed. My daughter refused to go in.

“Come in, love.”

“No, it says it’s closed.”

“Well, you shouldn’t believe everything you read. The door is open; the lights are on; it’s the middle of the day. So it’s not closed.”

She weighs up the evidence and concludes that because there is nobody at the counter, it is closed.

At least she thought about it.

With Finnan and his rare disease, questioning authority has become second nature. Physiotherapists tell me he must learn to crawl before he can walk. I know a CDG child who have missed out the crawling stage completely and walked. Doctors say they’ll get back to me, I work out their email address by looking at the institution’s email address format and chase them direct to their inbox. I just keep emailing and calling their secretaries until they give up and answer me. They tell me I’m well informed about CDG. That’s my job. I send them the latest CDG research papers, and I don’t care if they think I’m cheeky.

The internet, too, needs to be questioned. Medical professionals tell me that one in 20,000 people has CDG. They tell me this because they read it on the internet. They say I should be able to find more CDG families in the UK based on this statistic. Right. Where are they then? Because if there are 62,641,000 in the UK, then there should be 3132 people with CDG. Even with the infant mortality of 20 percent associated with CDG, that leaves 2506 people.

The CDG UK network knows of only seven. And not all of them have the sub type CDG 1a that the stats (according to one website) relate to. So where are the other 2500ish people? If they were out there, I would know. I mean I would, right?

They must be either undiagnosed, expired or don’t want to get in contact. Or, more likely, the facts need to be checked. Just because in 2001 Jaeken and Matthijs said that the prevalence of CDG (any type) may be as high as one in 20 000, but that doesn’t mean the medics can all copy, paste and quote it like it’s the law.

Rant over.

While reading the last story Enid Blyton’s The Wishing Spells this week, my eldest daughter stopped me and told me that the story is sexist on two counts: firstly, there are only boys herding the cows, and secondly, it’s the mother who makes the cakes. I give her a big cuddle. Finally, some critical thinking!

Then she asks me if it’s sexist that Dad does all the work, while I just play on the internet all day. Grrr.

These days, I talk about CDG to anyone who’ll listen. Sometimes I meet people who’ve turned out to be pretty useful contacts and some people who turned out to be nice new friends, so it’s all good. Overall though, I think I must be quite annoying. Ah well, no press is bad press.

About the Author

Julia Boonnak is the mum of three little monsters, including Finnan (CDG1a). Living and teaching in her husband’s native Thailand at the moment, she plans on moving back to England in July. You can read more of her material through https://cantdogymnastics.blogspot.com/.