Life’s big question. Stick or twist?
Stick with what you know and what works or change things, potentially for the better. Will the grass be greener, or will it be full of pesticides and eating it will be fatal?
I guess this debate hinges on if what you’ve got really works. In Isla’s case… it does, until it doesn’t, and then it really really doesn’t.
We’ve been to clinic today and everything looks good.
Her Qtc is 455 which is pretty normal. She’s had no events since the 17th December. Happy days. However, since her ICD was inserted she’s had 11 shocks. Her ICD is a safety net not a treatment. Getting something as simple as a fever can be deadly to her right now.
As I said Isla is ok until she’s not ok, if anything upsets the status quo she’s dead and it’s her ICD’s job to bring her back. She’s on such high doses that it’s affecting her neurologically and stunting her development, yet she is still having potentially fatal breakthrough events. There’s no wiggle room. Things aren’t working, she’s not stable enough, change something; Twist.
However, she is developing. And she’s happy. Yes it’s in her own time, but when everything is going well, there’s no reason to change anything. She’s started nursery, beginning to use PECs to communicate and starred as Mary in the Nativity; Stick.
A few weeks before Christmas we were presented with an option of an elective procedure, a Left Cardiac Sympathetic Denervation (LCSD). It essentially severs the left sided adrenaline gland to the heart, which in theory makes it less likely for the heart to go into an arrhythmia. It’s viewed as extremely effective for protection in high risk Long QT patients. However, the benefits to Long QT 3 patients is relatively sketchy and essentially it may do nothing. LCSD is a surgical procedure though, and with surgery comes risk. There is not only risk of the surgery but also side effects with potentially come along with LCSD. The nerve they sever is next to the one for the face; if this is nicked then the patient can get a condition called Horner’s Syndrome. This includes eye lid drooping, decreased pupil size, abnormal sweating, plus a few more. It’s not ideal. And it might be for nothing.
With this in mind we decided against the procedure. Risk vs benefit: lots of risk and possibly no benefit. As you might expect I went on a mission to find out more and to search for any alternatives from the Long Qt community and from all the top Long Qt doctors.
Isla getting flu in December was really a wake up call and game changer. Flu is evil regardless of other medical conditions. People who walk around saying they have flu are having a laugh; if you’ve got flu you’re not walking around. I mean it can kill. It causes a whole host of other complications too. Isla only had a pretty mild hit and fortunately it was pretty straightforward… I say straightforward; it was fevers and awful cold symptoms and didn’t affect her respiratory systems or anything. However, a fever in a Long Qt patient is not good. Isla’s fever caused an electrical storm in her heart which resulted in 6 shocks. I felt 2 of these as I was holding her at the time, and I have to say it wasn’t pleasant. I didn’t want to complain because I only got a small jolt second hand. Isla got the full whack. My arms were still tingling 12 hours later! Twist: things were clearly not working and isla was not safe.
While Isla was in hospital at Alder Hey I decided I needed to up the game and really call in the reinforcements. I got in touch with Peter Schwartz (the godfather of long qt), Michael Ackerman (again), Arthur Wilde, Slyvia Priori and Georgia Brugada… a who’s who of Long QT.
(Interestingly Dr Priori and Dr Wilde had treated patients with Isla’s exact mutation. We were told she was unique and the only one in the world with it. This is the case if you search the records, but not everyone is on those records, so it was only by contacting these doctors and their clinics that I was able to find this information. They provided some insights into treatment. I was really angry about the fact I was told that there was no one else with Isla’s mutation. Within 24 hours of asking around I found 4 patients. A genetics team whose job it is to cross reference these cases couldn’t find one. Less google and more talking required. As great as the NHS is I have found that the biggest flaw is communication. No one talks to each other. Yes… this isn’t isolated to the NHS as it’s international, but still. An email to another colleague working in the same field who you see all the time at conferences, isn’t all that hard.)
The long and short of it, all of the doctors recommended that Isla has the sympathetic denervation. Dr Schwartz went as far as to say if it was his daughter or granddaughter, he would have it done tomorrow. That was the thing which has tipped me towards Twist. The biggest worry is what if it doesn’t work. If it has no impact. The plan then is to do the right side sympathetic denervation… and if she still has breakthrough Torsades then we’re looking at a heart transplant. So here’s to hoping the LCSD works!
Ideally we would wait for the genetics and functional study on Isla’s mutation as I discussed in a previous blog. The scary thing is that, ‘Isla can’t wait for that, it might be months, a year, Isla hasn’t got that.’ That was hard to hear. ‘We need to act now.’ I called this Stick or Twist; essentially we can’t stick. It’s Twist or Bust.
The plan now: we go back to Great Ormond Street in around 2 weeks to change beta blocker (back to Propranolol is another suggestion by my international doctors). We’ll spend a week or so in before being let home for a fortnight… then it’ll be back to London again for the LCSD. Not looking forward to multiple admissions within a month but hopefully the end result will be a more stable rhythm and more wiggle room.
So although I titled this ‘Stick or Twist’, we have to twist and do something different in Isla’s treatment in order for her to survive. Change is scary but it’s probably not as scary as doing nothing. Got to go munch on that green grass regardless!
The Long Cutie 