PKD information and support day: A recap

Last weekend, I attended the ADPKD Information & Support Conference in Edinburgh. The event was hosted by Professor Neil Turner and the PKD Charity UK, supported by the Edinburgh and Lothian Health Foundation Renal Endowment Fund. The event marked the 10th year since the first information day was held in Edinburgh. The post to follow is a recap of my experiences and learnings from the day. (With links to further information, should you be interested.)

Disclaimer: I am not a medical professional nor do I have any professional health or fitness qualifications. This post is about my own experiences and layman’s understanding of the day. The details and links shared below are meant as an informational starting point – not as medical advice. Please consult your medical team if you have any questions or concerns about your own health.


The day began with opening remarks from Tess Harris, CEO of PKD Charity UK. Tess shared some background on the charity itself as well as information about some of the things the charity supports – including funding academic research, studies, and clinical trials. (In addition to providing invaluable patient information and support.) We then heard from speakers on different PKD-related topics, as shared below.

“About PKD” presented by Dr Fiona Duthie

Dr Fiona Duthie presented a general overview of PKD. Much of the information was a review for me (I come from a very large, very “informed” PKD family). However, I did learn that the possibility of new or “de novo” mutations (as opposed to inherited forms of the disease) have about a 10% possibility. My maternal grandmother was one of those “10%”, although I had always imagined that new mutations were rarer than that. Of course, we can’t always be certain that de novo mutations are new mutations. It is possible to have inherited the disease without know that a parent had passed it on. This might be because the parent died before being diagnosed, an absent parent (because of adoption, abandonment, or other reasons), or other reasons.

Dr Duthie also talked about some of the complications with PKD. This includes the “standard” issues that most (experienced) PKDers know about such as ruptured cysts, urine or cyst infections, kidney stones, and high blood pressure. However, she also spoke about some of the complications that people may be less aware of. This includes the formation of cysts in other organs including the liver, pancreas, and ovaries as well as a condition known as diverticulitis. That was new information for me, so I will be spending some time reading up on it.

Other common complications include abnormal heart valves and “berry aneurysms” which can cause a subarachnoid haemorrhage. Although the latter is not something that is generally screened for unless there is a specific reason due to various risk/complication factors. There is also the possibility that PKD can cause your liver to become enlarged. However, it is rare for this to cause problems with liver function.

“PKD: Becoming treatable” presented by Professor Neil Turner

Professor Neil Turner spoke to us about current and future treatments for PKD. Starting on a (lightly) negative note, he began with a list of things that have not been shown to help PKD. This included diet, blood pressure, ACEi, herbal treatments, fish oil, and gene or stem cell therapies. On a slightly more positive note, drinking large amounts of water was listed as something that might help PKD.

My personal commentary on this: It should be said that whilst there isn’t a “PKD diet” and that managing blood pressure is not going to “cure” you, these are both things that need to be controlled to at least some extent (this is true for everyone, not just those with PKD). A healthy diet will help to maintain your weight and overall health. And keeping your blood pressure in check is good for your heart. You will not do your kidneys any favours if you don’t take care of the rest of your body.

Next, Professor Turner talked about some of the cyst growth inhibitors available including mTOR inhibitors, somatostatin (which does not seem to help much with kidney cysts but seems to slow liver cyst growth), and other such treatments including vasopressin antagonists such as tolvaptan.

Tolvaptan is top of the list at this time. The medication blocks the hormone that controls the concentration of your urine and, essentially, helps you pee a lot. (And it makes you very thirsty in the process. Tolvaptan is not a cure and it does not stop the growth of PKD kidneys, it only slows it. But it is a worthy treatment for many to consider.

Note: I have been on tolvaptan since May 2017. You can read about my experiences in the following posts:

Professor Turner also talked about some potential next treatments including statins and metformin, and the potential of combining drugs (both old and new).

He then ended with some very sage advice that I feel is worth repeating:
Lead a healthy, normal, full life: Be active, eat a healthy diet, and [avoid] “bad” things. Also, check your blood pressure!

“Children and PKD” presented by Professor Neil Turner

Professor Turner also gave a short overview of children and PKD. Here are the highlights:

  • A negative scan in a child does not confirm they don’t have PKD. However, a positive scan confirms they do.
  • PKD seldom causes trouble in children and young people, and severe trouble is rare.
  • The old advice was that there is no need to diagnosis early. However, new potential treatments suggest that early treatments can be beneficial.
    [Side note: I was diagnosed at age 5 and am a strong proponent of early diagnosis. I believe that growing up knowing I had PKD meant that it was just a part of me; there was no life-altering shock later in life. Knowledge is power! This is an opinion I am happy to discuss in the comments.]
  • The new testing recommendations are to scan around ages 16-20 and to ask for kidney length at that time. But remember: a negative scan is not 100% “all clear” this early.
  • The new guidance for “all clear” with a scan is 40 years old, although genetic testing can confirm earlier.

“What happens if my kidneys fail?” presented by Dr Paddy Gibson

Dr Paddy Gibson’s presentation was about life after kidney failure, with a strong focus on dialysis options before a transplant. He began with a quite positive message that “there is life after kidney failure”. This included stories (and photos) of people living very active lives whilst on dialysis, which made me quite happy to see. (If I ever get to that stage, I will be as active as possible. I wonder if I can run a marathon whilst on dialysis…)

Dr Gibson’s talk began with an overview of renal replacement therapies. He briefly touched on “conservative care”, which is the management of kidney failure without dialysis or transplant. (Basically, end of life care for those patients who cannot have, or do not wish to have, life-prolonging treatments.) However, the focus of his presentation was on dialysis.

It was explained that there are two forms of dialysis: haemodialysis (HD), machine-based dialysis that “cleans the blood”, and peritoneal dialysis (PD), which flushes a clear fluid into the peritoneal cavity (that’s your belly) to absorb waste products before being flushed out of your belly again.

It was stressed that there is no one “right option” for everyone. Both HD and PD work well, it just depends on the person (across a range of considerations including physical limitations and lifestyle). It was also stressed that both forms of dialysis have the same safety records. Of course, there are pros and cons to each option, which should be discussed and considered carefully.

I won’t get into the nitty-gritty for the difference between the two types of dialysis. Instead, I will point you to Wikipedia* for general overviews of both: Read about haemodialysis here and peritoneal dialysis here.

When deciding which kind of dialysis will work best for you, Dr Gibson suggested that patients shouldn’t begin the conversations with HD vs PD. Instead, he urged people to think about their preference for dialysing at home or in hospital, then decide from there. I found that to be quite insightful as I have always thought I wanted to do PD specifically because it would allow me to be in control. However, knowing that I can do either as a home-based process makes me realise that I will need to think about my options when (and if) my time comes.

Of course, Dr Gibson also reminded us that dialysis cannot do what real kidneys do and that the best treatment is a good transplant.

And with that, I will give a wee plug for organ donation. If you’ve not already signed up to be a donor, get it done. (And talk to your family about your wishes.) And if you’ve got two healthy kidneys and want to donate one of them before you’re dead, then you are a superstar above all superstars. This leads me to Dr Gibson’s opening statement: Two kidneys is a luxury; one is enough.

The rest of the day was spent in small workshops. I chose to attend the “Coping with PKD” and “Managing Pain” workshops. However, the format of the sessions was more conversational and would be a bit challenging to share in a blog post. So I will leave those be for now.

I am pleased that I was able to attend the event. It was great to see so many people there with their partners, eager to learn and to share their own knowledge. And, of course, I am extremely grateful to the PKD Charity UK team and to all of the speakers for all of the hard work they put in to make it all happen.

Disclaimer: I am not a medical professional nor do I have any professional health or fitness qualifications. This post is about my own experiences and layman’s understandings of the day. The details and links shared below are meant as an informational starting point – not as medical advice. Please consult your medical team if you have any questions or concerns about your own health.

* I know that Wikipedia is not an academic resource nor should it be used as the most definitive source for any research. However, it does what any encyclopaedia does: It provides a general overview of a topic, allowing you to seek further information as and when required. A bonus to Wikipedia is that entries and edits are reviewed by others for accuracy, and statements are “backed up” with reference links to legitimate resources.

To end, a wee selection of my tweets from the day:

How common is PKD? Approximately 1 in 500-1000 people in the UK. (Yeah. Wow!) #EndPKD

Q&A for @faiduthie:
Q: Will my transplanted kidney develop PKD or cysts?
A: No, it won’t develop PKD, but there is a possibility of random cysts (to paraphrase) #EndPKD

Prof @neilturn explains that cysts on other organs rarely cause trouble (such as liver problems/failure), but occasionally the size of a cysted organ can cause problems. (To paraphrase.) #EndPKD

Q: Can you remove the cysts from the kidneys?
A: @faiduthie says not generally because of complications, but they are sometimes drained depending on circumstances @neilturn adds that it used to be more common, but complications ended the common practice #EndPKD

Q: Does transplant “cure” PKD?
A: Not really, but kind of, sort of. Ish. @neilturn says that new research shows the growth of PKD kidneys stops or slow growth after transplantation – but more research is still needed. (To paraphrase.) #EndPKD

Prof @neilturn says about 90% of patients accept the offer to start Tolvaptan in Edinburgh. I am one of them and have had a very positive experience. My four-month review is here:

Happy to answer any questions about it. #EndPKD

Q: Is there an age restriction for Tolvaptan in Scotland?
A from @neilturn: Must be 18 or older (unless part of a research study). Upper limits are vaguer (locally) and based on the potential benefits from the drug. #EndPKD

Q: Once on tolvaptan, is there is a stage when treatment will be stopped?
A: @neilturn says not really, generally only when very close to dialysis/transplant. But there are limits to when treatment will start. #EndPKD

Q: What about the costs of tolvaptan? Will the NHS keep offering it?
A: @neilturn says that it is very expensive, but it might go down eventually. Still too expensive to get to “everyone who would benefit” (to paraphrase)

(My comment: Hence the protocols, I assume) #EndPKD

Q: What about artificial kidneys?
A: There is research into “portable kidneys” but we’re not there yet. The “real” research is in stem cells right now (to paraphrase). #ADPKD #EndPKD

“Two kidneys is a luxury; one is enough.” (Paddy Gibson)

Best quote of the day. #OrganDonation #DonateLife #ShareYourSpare #EndPKD #ADPKD

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