It’s almost two years since I wrote a blog called Parental Dilemma in which I posed the question in relation to a genetic disorder “would you test your child or would ignorance be bliss?” The genetic disorder in question was Autosomal Dominant Polycystic Kidney Disease (ADPKD) and it caused the complete failure of my kidneys in 2002. The nature of the condition is that there’s a 50/50 chance it will be passed on to any child where only one of the parents has the defective gene. My wife and I thought long and hard about having our son’s kidneys scanned but eventually realised an early diagnosis would improve his chances of managing the progression of the disease and hopefully this would postpone end stage renal failure thereby delaying the inevitable descent into the world of dialysis.
I must confess the question behind this blog, “Tolvaptan: A Game Changer?”, came from a comment from my nephrologist, Dr Grahame Wood at Salford Royal Foundation Trust following a brief discussion on the drug’s approval at my recent clinic appointment. Tolvaptan (marketed under the name Jinarc® in the UK) is the only treatment available for ADPKD, it isn’t a cure, it merely slows down the progression of the disease and its licensing has been a protracted affair: in the USA approval for the drug was denied by the FDA because of concerns over the research trials process and in the UK, NICE initially rejected the drug only to overturn its decision following appeals from charities, patients and the presentation of more evidence from experts.
So how does the introduction of Tolvaptan change the game, how does it add weight to my argument that it’s better to have your children tested? At present there is no formal monitoring of ADPKD so unless you have your children tested the chances are they will only find out if they have the disease once they become symptomatic, usually when hypertension is detected. Tolvaptan changes that because now there is a treatment so early identification potentially allows the patient to be prescribed the drug and thus slow down its progression. (In the UK Tolvaptan is recommended for the those at stage 2 or 3 of renal failure).
Despite the introduction of Tolvaptan some parents will remain reluctant to test citing increased insurance costs and adverse effects on their children’s lifestyle. In my opinion early detection and the better quality of life afforded by the treatment renders the decision to test a ’no-brainer’.