Hi ferllas5,
Just wondering if you know the name of the lab in SA? When I spoke to the geneticist in Perth yesterday she said she wasn't even sure if testing was available. I told her there was a lab in Wales and they can test for ARPKD. She said they would be emailing labs to find out who does the testing. If it's done in SA and they now have the probe from your testing, I dont see why my genetics couldn't be tested there either.
Thanks for your help. This seems such a long road ahead and at 39 next month, I want to hurry things along as much as possible.
There are 5-6 labs in the world that test for ARPKD, none of them in Australia. The RWH, Melbourne sends their samples to Wales, I think Sydney sends it to Germany.

Ferrals has explained the difficulty with testing well. It's very hard to find an individual gene. I think the gene for ARPKD was found in 2002. Each chromosome has thousands of genes. Isolating which gene causes which problem is very difficult. Finding the gene is one thing, finding the mutations on the gene is something else.

It was explained to me thus: imagine there's a line of text on the road between Melbourne and Sydney. The geneticist are looking for 2 spelling mistakes in that line of text. They need to find those mistakes in the baby's DNA, then trace each back to the parents - one from mum, one from dad. In our case, they found 1 mutation or spelling mistake in DS. At first they could not find it in either of us. They later identified it was on the paternal allele but still wasn't found in DH's DNA, meaning it may have been spontaneous. They did not find a known mutation from me, though they did find something that may be a signpost in both DS and my DNA.

If you have a contact, I suggest you ask that she organise the following to save time:

  • That you have a meeting with a geneticist and genetic counsellor the same day as the pathology report. That way you dont have to keep coming back. If they dont think it's ARPKD, can they please review this before these meetings. Make sure the genetic counsellor is in the meeting to interpret science into English. The first geneticist we met had the compassion of a rock. We've found our counsellor to be invaluable.
  • That they identify the lab they can send the DNA to before this meeting.
  • That they confirm with the lab that they want a sample of the parent's DNA at the same time as they receive the baby's DNA. The lab in Wales wants all samples at the same time - this will save time.
  • That they find out if testing can be publicly funded or do you need to pay or contribute - genetic testing depends on public funds. We were told it would be $2-3k but in the end we didnt need to pay.
  • That you both have you blood taken at the hospital path lab the same day as the meetings.
  • That communication be via email or phone, not by snail mail.
  • That you be kept informed of all the steps taken.

None of this was organised properly when we got our results. So we waited 6 weeks to the port-mortem result meeting. We were then referred to the genetics service. I think it was another 3 weeks before the meeting with genetics. They did not know at the time who'd be doing the testing, so we went away while they worked that out, then oops, the lab does want our DNA after all so they mailed us a path slip to get blood taken. Then the samples were couriered to UK and then we waited for the results.

You and your DH should also have a renal ultrasound to rule out ADPKD. You can get a referral from your GP.

I was 36 at the time and did not understand why they were wasting my time, but they're public service, they dont think efficiently. Mind you, this time, they've been completely on the ball.

I hope that helps. I'm not going to be around much the next few weeks. You can also find support at the FB group ARPKD Angels.