Polycystic Organs and the Medical Maze

[1CarefulOwner]

Here is our story so far - any thoughts and guidance much appreciated:

My wife has been battling polycystic kidney disease for years, and we now suspect she has polycystic liver disease too. But getting a diagnosis and treatment for her enlarged liver has been an uphill struggle that's left us feeling helpless and frustrated.

At first, we thought only her kidneys were ballooning to extraordinary sizes. The liver was barely mentioned, except for a large cyst that mysteriously became two. It's only in recent months that we've discovered the truth - her liver is colossal, completely disproportionate to her petite frame, pushing the gallbladder out of position - and then with two cysts, each the size of a tennis ball (6x5x6cm), bookending this already oversized organ. It's a silent monster growing inside her, and we feel powerless to stop it.

Since early this year, we have been pleading with her London hospital to refer us to a specialized large liver clinic for urgent review. Our requests have fallen on deaf ears, forcing me to reluctantly seek help from the Patient Advice and Liaison Service (PALS) just last week. It feels like we're shouting into a void, desperately hoping someone will finally listen.

The nightmare began five years ago when her reflux became unbearable. Tests were conducted at the London hospital, but getting results was like pulling teeth. After three requests for the results (no response) it was 18-month later when a kind-hearted lab technician called, wondering why nothing had been done about her "absent contractility in the Lower Oesophageal Sphincter." It was a medical term that sounded alien to us but explained so much of her suffering. However, the clinic felt the result must be a false positive and seemed clueless about large liver possibility ("the angle of His has been corrupted by the liver" is what the AI says - in simple terms the angle between the stomach and the oesophagus is not in the position it needs to be to prevent the contents from spilling out).

The London hospital sent her for a 72-hour Bravo test - another dead end. No results, no explanations. We were assured her case was discussed in one-hour internal meetings, but no diagnosis or treatment plan ever materialized to her or us. It's as if she's become a medical mystery that no one wants to solve. "Try taking more PPI" is the only help so far - and even that was not from the London hospital. As far as gastro in this hospital has been concerned, it was like we were stonewalled from talking to any consultant. (BTW In contrast - the renal team at the same hospital have been exemplary.)

But the reflux was just the beginning. Since 2019, my wife has been experiencing terrifying "outages." Imagine watching your loved one suddenly lose consciousness, eyes open but unseeing (5 minutes), her breathing sporadic and shallow, then about 15 minutes of gradually rebooting into existence. She cannot remember much from these episodes. It's preceded by severe reflux and easily triggered if she lies flat. She has experienced this about seven times now. Each episode leaves her drained and feeling awful for hours. Thankfully one of these episodes happened in front of a skilled anaesthetist who documented it all (at a different hospital). At least now we have proof that we're not imagining things. It also happened (twice) at the hospital she is currently under, without any clinical notes.

Just when we thought things couldn't get worse, they did. In the past few days, she's developed an unrelenting cough that's negative for COVID but positive for misery. It's like her body is rebelling against her, and we don't know how to fight back.

As if all this wasn't enough, she's also on haemodialysis. There's no room for the peritoneal version due to her enlarged organs. I certified (last month) to deliver home haemodialysis with the local trust, determined to do whatever I can to help her. But even this small comfort is being held up by bureaucratic red tape at our local trust ("might not be until Christmas due to budget for a reverse osmosis machine").

We're exhausted, scared, and running out of options. She is in continual and progressive abdominal pain and unable to take painkillers due to the gastro issues and constant nausea. Every day is a battle, not just against the disease, but against a medical system that seems to have forgotten the human being at the centre of all these symptoms and test results.

If anyone out there has faced a similar situation or has any guidance to offer, we would be eternally grateful. We are desperate for a way forward, for someone to finally see the whole picture and help us find a path to recovery - or at least a better quality of life for my brave, suffering wife.

Thank you for reading our story.

Any thoughts, similar experiences, or advice would be a lifeline right now.

[Jtwin]

Hi there, so sorry to hear about your wife. What may help the reflux discomfort is raising head of bed, so that the contents of the stomach doesn't rise up in to the oesophagus, when laying down. Which can accidentally also be inhaled into the lungs. causing a cough. I was fortunate to find a chiropractic exercise that pushed the sphincter gently down into place and was able to slowly come off of the ppis. Also not eating before lying down will help. Hope this may be helpful.

[1CarefulOwner in reply to Jtwin]

Thank you. The chiropractor part is particularly interesting. My wife has indeed been raising the head of her bed since 2019. This did provide some relief for the first year and she does still have to do it, but thebsize and internal crushing is now too great.

[BritishLiverTrust6 Moderator British Liver Trust]

If you are in the UK and would find it useful to talk things over, our nurse-led helpline is open Monday to Friday from 9am to 3pm on 0800 652 7330 (excluding bank holidays)

Best wishes

British Liver Trust

[1CarefulOwner in reply to BritishLiverTrust6]

We did and it helped considerably.Thank you.

[1CarefulOwner]

Just by way of an update. The severe reflux meant that my wife could not use an effective respirator (FFP3) throughout each haemodialysis session. She would have to lift it a few times for fluid or if struggling. This meant she caught covid at the dialysis unit. It's hitting her hard. She had the biologic antibodies by IV on day 3 of symptoms but the symptoms are still worsening (full loss of taste and smell, no energy,....) . As primary carer, I then caught it from her and became symptomatic 3 days later. The staff understandably put my wife in a side room to try and prevent further cross infection. I have trained to do home haemodialysis but ironically some budgetary issue with a reverse osmosis machine means we are still stuck in the ward, however, this training meant that I could tend to her in the side room. This was fortunate as on Saturday, due to covd and dehydration I think, she had a low blood pressure event. If I had not been there, I don't think they would have noticed in time. Also they have not made notes on her reflux outages and the need to avoid laying her entirely flat, so had they noticed and done the wrong thing that could have caused just as big a problem. They also seem to have added somebody else's blood test results to her file, as I did 2 sets of bloods as requested recently -and as the tubes were not labelled, I took care to label hers - so the two results came in and then days later, a third arrived with impossibly different results. So now on top of all the cramming, reflux, abdominal pain she now has no energy, no sense of taste or smell and the latest symptom is pain all down the back and into her one remaining kidney.... and her blood test results now include someone with a much healthier kidney.