Health June 20, 2019
Patrick’s journey to a rare diagnosis: Getting my health back on track

By News Feature - Accountable Care Journal

From my earliest memory I’ve been keen on exercise, says Patrick. Health-wise, I didn't have any major problems and when I left school, I was a county standard runner and also cycled, played football and cricket regularly, and did a bit of swimming.

I later married and had 3 sons. We considered ourselves a healthy family, following a good diet and keeping fit. My doctor was someone I never saw. I enjoyed good health well into my 40s, besides the odd cramp - but that’s to be expected from all the running and 9 hours working without a break.

Suddenly one night, I woke up with a raging thirst. I also needed the toilet every hour - what goes in has to come out! This discomfort went on throughout the day as well. Being summer, I just put it down to dehydration.

"Nothing could satisfy my thirst - not even when I was guzzling down two pints of orange squash"

After a month of disturbing my wife with my nocturnal activity, I started sleeping downstairs. As my work was affected due to my frequent toilet visits, I was urged to go see my GP. He tested for diabetes mellitus (sugar diabetes). Nothing came back to verify this, so I was sent away without a solution. The problem wouldn't go away. I was losing weight and felt rough from lack of sleep. My wife persuaded me to go back to the surgery.

Because my normal GP was on holiday, I saw a locum and that turned out to be my lucky day! I described my symptoms to them and explained that no one knew what was causing me to drink up to 30 pints of water a day. The locum listened to my story and said that he had an idea of what could be wrong. He had recently read a medical paper, where a lady was suffering from the same symptoms as I was. What was making him have doubts though was the fact that the condition is very rare?

"I noticed a large gathering of people wearing stethoscopes, staring at me"

I was put through a very rigorous water deprivation test for 8 hours, and within an hour of the test being complete, I was diagnosed with the rare condition the locum had read about: Diabetes Insipidus. It's not related to the usual type of type 1 or type 2 diabetes - it’s a hormonal problem where the brain doesn’t get a signal from the kidneys and fails to produce the hormone vasopressin. In severe cases, people have been known to pass 20 litres of urine per day. I then noticed a large gathering of people wearing stethoscopes, staring at me. They wanted to see the person diagnosed with a rare condition.

Once I'd been diagnosed I was given an injection. Within seconds, the thirst had gone. It felt wonderful. Finally, I had answers. The following morning I was sent on my way along with a nasal spray, called Desmopressin. Taking this twice a day got my life back to normal. I have regular checkups at the clinics but everything is fine. Diabetes Insipidus isn't curable but - and it's a big but - it is treatable.

Five years went on in fairly good health as I was able to manage the Diabetes Insipidus with medication.

But when I started to have pain in my left leg, just below my hip in November 2014, I began to get concerned. I’d just had a total hip replacement surgery, so it was brushed off as probable bursitis. When I was finally sent for an x-ray, it showed up as a small shadow on the bone. A CT scan didn't throw any light on what it was. I was referred to the orthopaedic department at my local hospital.

I went in quite relaxed. I walked out of it petrified by what the consultant had said. The shadow on my leg had grown in size. I was told that there was a possibility that I could fracture my femur, so was told to use a walking stick and to stop cycling immediately.

He then told me that an emergency MRI scan had been booked and I’d have a total body bone scan at the nuclear medicine department.

I had to wait ten agonising days for the biopsy result. When the day came, the surgeon explained that the biopsy result had been checked and checked again. It was difficult to believe, but the diagnosis was correct. I was suffering from Langerhans Cell Histiocytosis (LCH). Apparently, not many people have heard of it, not even clinicians.

LCH is a bone marrow disorder. The marrow deteriorates and it’s classified as a type of cancer. It’s normally found in infants. For an adult to get it isn't impossible, but it’s millions to one odds. Diabetes Insipidus first, and now LCH. Both rare, incurable conditions.

A clinician informed me that my strain of Langerhans was the first one ever found. There was no previous case to guide the treatment of the condition. So, I had a metal plate fixed to my femur to strengthen it against the growing tumour. Following that, I had a course of radiotherapy. A further CT scan revealed two small tumours in my groin, close to the hip replacement area. Due to the metal plate, radiotherapy was ruled out and it also turned out to be ineffective against the right side tumour anyway. I started chemotherapy in May 2016.

The chemo had reduced the tumours but the scan also revealed a sinister-looking dark mass in my abdomen. Yet another biopsy followed.

I tried to get the result by ringing a doctor in the haematology department, but she was reluctant to reveal it on the phone. I had to wait for an appointment in two weeks and eventually I got her to tell me the result. I had Lymphoma. The word cancer was used again. It’s treatable but can’t be cured.

I had to have a course of chemo called R-Chop that was stronger than before and resulted in me losing all my hair, and feeling rough.

I’m still making regular visits to the hospital to top up my chemotherapy treatment. This is to prevent the lymphoma from returning. It’ll always be with me, but it’s just kept on the back boiler, so to speak.

On a routine appointment, I was told that a blood test was showing I might have hypocortisolism, for which I had an insulin stress test. And then I was diagnosed with condition number four: Hypocortisolism, also known as Addison’s disease. It is when the adrenal glands don’t produce enough steroid hormones. Symptoms come on slowly and you might get things like abdominal pain or weight loss. Now, I take daily tablets to control it.

Finally, in January 2019, another blood test revealed that I have an under-active thyroid. I now have five permanent conditions. I might be in The Guinness Book of Records soon. With all these conditions, things were becoming harder to manage in terms of my health: I had things to remember at consultations, prescription medication to order and take, appointments to attend, and test results.

Evergreen Life

Early in June 2018, my wife answered a call from our doctor’s surgery. They explained that there’s now an online service that allows patients to access their health records via an app.

We were invited to go into the surgery and have a demonstration of the app. Up until a few years ago, we’d have declined this offer. We were used to the way things worked for us. If we were ill, we rang up for an appointment. If we wanted test results, we rang up hoping that the phone would be answered and that the results were even available. If figures were read out to us and not noted down, they were all soon forgotten.

We went into the surgery, a woman explained everything to us and got us set up with the app called Evergreen Life. That evening, the two of us sat down and played with our apps. I was amazed at how far back the records went - all the way to 1990. It gave details of conditions I’d forgotten about.

Not long after we started to have access to my GP records, I noticed a problem that I thought might be connected to the lymphoma. My wife suggested that I make an appointment. It was 8pm on a Sunday evening when I signed onto the Evergreen Life app. Within two minutes, I’d booked an appointment for the following Tuesday and, at the same time, I ordered two repeat prescriptions and collected them two days later.

I now had all my test results, going back over 29 years. Before my latest Haematology appointment, I signed onto Evergreen Life and extracted all my blood test results going back to 1990. I noticed a pattern of gradually declining figures in two major areas of the total blood count results. I made a graph of this and took it with me to the appointment.

I asked the doctor who was doing the consultation why my counts were low. If I didn't have the Evergreen Life app, I would’ve accepted her answer. However, I did have the information to hand and was able to produce them right then and there. The doctor said that the chemotherapy was affecting my blood count and that was the reason for the low counts.

That answer was simply not correct. I started chemo in 2016, but the white blood cells and lymphocytes have both been declining for longer than that. I'm still waiting for the doctor to give me the real reason - but because I had my test results information myself I could challenge these diagnoses and feel confident I’m getting the best treatment for me.

After nine months of having the Evergreen Life app, I’ve been able to take a much better approach to taking control of my health. Essentially, now I’ve stopped using the internet as a means of self-diagnosis. I've bumped myself off twice already by putting 2 and 2 together and coming up with 5! My wife does all the research and looks at all possibilities. And now I have all the information about my health in my app whenever I need it.

Thanks to the app alerts I’ve set up, I never forget to take my medication when it’s due. I also have details of every medical condition I have, the date of diagnosis, and the medication prescribed is all available 24/7. I know exactly when I ordered the medication and when I need to order it again.

Unfortunately, my GP surgery hasn't yet made every app function available on their computer system. I can’t yet see letters sent, or received, by the practice that concerns my health. As I’m under three different departments at...