12 Months of Thumb Twiddling

Well the 31st October has been and gone for another year. For most and me, normally, it means costumes, parties and sweets.

I wasn’t particularly inspired this year. The 31st October 2013 marked a full year since I was sitting in St John’s Institute of Dermatology at St Thomas’ Hospital being told that I would be getting answers about my condition and be told what it will mean to the rest of my life. I haven’t been back to St John’s since.

The last time I heard from the department was in on the 25th September, on the 27th July I was told the preliminary results had shown a mutation and the full report should be concluded within the week.

I have had my fair share of shit from Hospitals over the years but this is taking the biscuit really. I understood when I was told that due to budget constraints the testing could take a while and I patiently waited for it to be done, but then having to wait 111 days for an explanation beyond you have a mutated gene is a bit much really.

The positivity my first meeting with St John’s brought me has well and truly been drained away, and they are now added to the hospital departments have let me down and provided me with an absolutely pathetic services. The good list is still unfortunately limited to two, people not departments.

Sitting, Waiting, Wishing

Raise your glasses to another 3 months of sitting around and doing bugger all about my low blood levels.

My haematologist has decided that we will continue to monitor my blood levels. Ya know, because doing nothing for 6 months has been productive so far, why not wait another 3 months before a decision is made.

Essentially this is where we are;

  • My levels of haemoglobin, platelets and white blood cells have all been fluctuating by a few decimal places every couple of months, but all are below the acceptable range.
  • My bone marrow biopsy indicated I have empty bone marrow, i.e. it is not producing blood cells.
  • I have an enlarged spleen.

This has been the case since the 18th of December, I make that 176 days of doing diddly-squat and it will be 266 days or 73% of the year, before any action could be taken.

There was some progress, we have been able to conclude that it is very unlikely to be drug induced, and therefore I have been allowed to start back on one of my tablets. YEAY

A job well done

After the short notice, my operation went very well and I have spent the last 3 weeks recovering. My swelling has quickly gone down and to the outside world it is nearly impossible to tell that I have just had surgery.

The operation was fairly quick and easy. They removed a fold in my skin, the result of a previous operation, revised my scars and gave my face a little bit of a tug for good measure. I must say, from what I can see Mr K has done a wonderful job on my scars, so it was all worth it.

A smooth recovery has been extremely important to me this time around. I have a feeling operations will be pretty regularly every couple of years, so I tried to hone my skills to become a slick recovery machine, basically I tried to delay chewing for as long as possible, I think I lasted about four days, then the Haribo beat my will power. I fared a bit better with my TV challenge, which consisted of watching lots of it, so you know, you win some, you lose some.

I see my surgeon again in 3 weeks time for the big A.OK and a bit of self-congratulation. He took the time out to explain what he thinks the NEXT operation will be so I am sure to be added to his list again, lets hope I get a bit more than 3 weeks notice in a couple of years time.

One thing this surgery hasn’t helped is my knee. Being half way through a 9 month recovery from ACL surgery and then having to spend 3 weeks laid up recovering does not help progress. It feels like I have fallen back about 2 months in my recovery. Oh to have a body that is fixed not constantly in a state of repair.

It is back to the blood doctor tonight, for another chapter in my saga.

A story about how my life got twisted upside down, Again

Well I have had quite the week.

Last night was my appointment with my Haematologist to discuss my latest set off blood results and formulate a plan of action to try to make me better. Well that was the hope I had about week ago, but everything has spiralled out of control a bit.

I have now been off all my prescribed drugs for 4 months, and although my blood cells numbers have improved there hasn’t been a great increase and the levels seem to have fluctuated while on the long-term decline, if you look at my history of tests. So no great news there, but no need for drastic action, which given my other news was a bit of a blessing.

A week earlier I had been informed by email that I have been scheduled for another facelift at Chelsea and Westminster. OH HOW I LOVE THE ADMIN SYSTEMS. Now as this blog has previously explained, I think my surgeon is the bee’s knees and he deserves a big high-five, but that hospital has one of the worst admin systems I have ever seen. I last saw my surgeon two and a half years ago, or six months after my last operation, and he put me on his list for surgery. About a month later I was asked to come in for a pre-operative assessment, and since then I have had diddly-squat. That is not quite true; I received a single letter last year from the surgical director’s office explaining that I was still on the surgery list and to contact them if I wanted to be removed.

At 3:50 pm on the 23rd of April I received this email telling me I was scheduled for surgery on the 16th of May. Now I have to attend the hospital at 7.30 am, so I make that 22 days, 16 hours and 20 minutes warning ahead of my surgery and for my work, from where I am likely to be signed off for a minimum of 3 weeks, that’s 21 days if you’re wondered.

So the outcome of a very stressful, depressing and frustrating week is that I will be having surgery, AGAIN, and the problems with my blood will be monitored for another six weeks at least before any decisive action.

It feels like my haematologist has been given a reprieve from having to make any kind of decision.

Oh and remember those pesky “doctors” at St John’s at St Thomas’ well they are doing nothing. So there are still no answers but they are going to cut me in the meantime.


I now have a 4th doctor with no answers

Well, that might be a little bit harsh but I still do not have any answers, or anything more than a loose plan, regarding my blood and bone marrow problems.

In short, my blood tests since roughly 2001 have shown a downward trend in all the key components that make up blood; haemoglobin, platelets and white cells. As well as the occasional abnormality just for the hell of it.

The reasons for this are still VERY MUCH unknown; there is no research that associates my bone marrow problems with Pachydermoperiostosis. So I am either ridiculously unlucky and have two very rare condition or I am pretty much unique in the severity of my Pachydermoperiostosis as there is no medical evidence of this problem.

The plan now is very simple, stop taking the drugs I have been prescribed to help my condition and hope this improves my health. A strange one as the drugs were meant to help me, not make worse. But alas, for a complete picture of what is wrong I need a drug free system, so coming off them will mean we can definitively rule out the drugs as the cause.

I can’t say the doctor filled me optimism that this will help as he continually referred to the next step, a referral to a specialist in empty bone marrow at King’s College Hospital, as when not if.

There have been some positives though; I now have doctors that talk to each other, my medical records are in reasonable order now, like having just the one set at each of the hospitals and the geneticists have had a rocket put up their backsides, albeit it doesn’t seem to have made much impact.

So it is time to wait again, another two months, before a blood test and in all likelihood a referral to new doctor.


New Year, New Problem

Unsurprisingly, most of my medical experiences don’t really run to plan and during routine checks ahead of my knee surgery there were some complications, of course there were.

The blood results during my pre-op tests showed that my levels of Haemoglobin, platelets and white blood cells were all low, from what I can remember from GCSE Biology, that means I am pretty much being low in the blood part of blood.

As normal I have been subjected to ALL OF THE TESTS. This time I have had seven blood tests in 3 weeks, an ultrasound of my abdomen, followed by an echocardiogram and an ECG before they gave me a sneaky bone marrow biopsy while I was under general anaesthetic having my knee rebuilt.

The bone marrow biopsy gave some pretty special results. They were able to take a core, which showed nothing. Well I hope it wasn’t technically nothing as having hollow bones would be a bit too mental, even for me. The biopsy showed no cells in my bone marrow, which would explain the low levels in my blood. I can’t be alive and have no blood cells in my bone marrow, so there must be some, somewhere, but we need to find out if the level is falling or how we can fix it, because it’s not exactly the best way to have a long and healthy life.

The possible fixes are a bit scary really, obviously top of the list is a trusty concoction of yet more drugs or a blood transfusion or the most extreme, yet most comprehensive fix would be a bone marrow transplant

The only way it is noticeably affecting my life, well it is presumed as being caused by this, has been weight loss. Not drastically obviously weight loss but over a couple of months I have dropped a jacket and a waist size.

So what is happening now? Well, we have results and no answers. I see my haematologist again on in two months, during which time he will hopefully have been able to access all my blood results from way back when. For my part, I have had to get all my hospital numbers together for him, all 6 of them!



My whole gene is going to be sequenced – well, maybe

I know this is really late, but at the end of October I finally had my appointment with the geneticist that will actually investigate the juicy details of my condition. It went well and they will be looking at my genes, first concentrating on the genes known to be mutated in people with similar less severe types of my condition and found in research conducted abroad.

This process is likely to take around six months to a year, but not because of a lack of technology, the lack of funds for the tests is the problem. In this case it is not paying for the actual tests but the NHS can’t pay for enough man hours for all the tests to be carried out, so I have joined a queue.

It is not definite that I will have the same mutated genes as other people have, due to rare nature of my specific condition, so it is quite likely that I will have my whole genome sequenced, all 20,000 genes. Now that is cool, they would be able to tell everything about me, but again this would take a while to happen. The test costs around £1,000 and can be done in a day but again it is finding a place for me in the schedule.

The main reason for having this done is to find out if any mutated genes I have are dominant or recessive. If dominant, the children will be next, to quote the Manics, but if recessive the chances of me passing it on to any children I might choose to have, would be minuscule. So it is pretty important and exciting that answers will be on the way. Well ‘on the way’ is a bit of an exaggeration, the appointment finished on, “if you haven’t heard from me within six months drop me an email to remind me”. Same shit, different day.