Share your voice – Your story HLH

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Title: My HLH story by Emma

At the beginning of September 2019, I became unwell, little did I know at the time that it would progress to me ending up on an intensive care unit –

It all started off with flu like symptoms – aches, pains and a temperature. However, over time these symptoms progressed – I could barely walk without help, I was having rigors – uncontrollable shaking alongside the fever and instead of improving after 10 days, I was getting worse.

I had such difficulty getting into the system, my symptoms resembled a young girl suffering from glandular fever – a common condition that affects people my age. It took 6 contacts with a healthcare professional before I was finally admitted to hospital. After 6 days on an acute medical ward and all the standard tests coming back negative, I was discharged home with a diagnosis of pericarditis (fluid on the heart) which was the only thing picked up; they thought it was due to an unknown virus that would soon resolve itself.

Oh how little did they know. I returned for repeat blood tests as my infection markers had been very high, when I returned, I was still suffering with all the symptoms but my bloods were much better! This was actually the start of the HLH destroying my blood cells, we just didn’t know it yet.

A couple of days later back at home, I had the worst night I’d experienced so far and found my blood pressure had plummeted and my body was covered in a rash, so my parents called an ambulance. I was seen by so many different specialities including dermatology, cardiology, endocrinology, infectious diseases, acute medical, haematology and eventually ended up on intensive care.

The scans had shown nothing so far but my bloods weren’t good as the phagocytic process had begun (my white blood cells attacking my own healthy cells). My ferritin levels (the protein that stores iron in the blood) had risen to 28,000 – this should be no higher than 150 and I had other signs that were indicating to HLH.

I had a bone marrow biopsy performed which confirmed this and was transferred to a critical care unit within a London Hospital.

At this point, I was terrified. Nobody could tell me I was going to survive this or get better and no one knew what was driving the HLH – a cancer like lymphoma, an infection or a rheumatological disease such as Adult Onset Stills Disease (AOSD). Being a physio who works in an acute hospital usually, I had knowledge of what normal blood results are and so I knew mine were far from it. I thought this must be what it feels like to be dying. I couldn’t turn over in the bed, lift my head, feed myself or do anything.

However, as soon as I arrived in London, I was commenced on a biological drug – Anakinra and amazingly my body responded to this fast. An infection driving this was ruled out by exhausting blood tests, cancer was ruled out by a PET scan and so by process of elimination, plus the signs I was showing initially (muscle/joint pain, pericarditis, a rash) I was diagnosed with secondary HLH, driven by AOSD.

I had to have blood transfused and, with the help of the physios and occupational therapists, build my strength up to do everything for myself again – from standing and walking to using the toilet and showering. I was so weak after being bed bound for weeks. But I was so thankful to be alive and improving. I am still on Anakinra to manage my condition, but I am back home with my family and back doing the job I love.

Despite feeling so lucky, my story still highlights that if more people were aware of HLH and I’d been diagnosed earlier, I probably wouldn’t have been left fighting for my life. I am one of the lucky ones but our voices need to be heard and more awareness needs to be raised, in order to prevent future patients ending up on critical care units or losing their life to this cruel disease.

Title: Our Mum Joan, her story – by the Family

Intro: We would like to share our story about our amazingly kind, polite, funny and oh so strong mum, who passed away peacefully surrounded by her ‘chicks’ (myself, my sister Diane and brother Andrew) in Barnsley District Hospital after a five week battle against this very cruel form of the disease – acquired Haemophagocytic Lymphohistiocytosis, (macrophage activation syndrome).
Mum first became ill on January 1st this year. She ‘fell’ on her way to the toilet in the early hours of new years day. She never drank more than a thimble full of alcohol, so we knew this was something serious. We were unable to reach her immediately and she was considered a ‘long lay’ and remained in hospital for a few weeks, before being transferred for rehabilitation. Her slow recovery was attributed to the ‘long lay’, as there was no obvious pathology…only non-specific raised serum ferritin and a slightly elevated liver marker identified on blood screening. Mum did return home to semi- independent living, but never returned to the level of health she had enjoyed before the ‘fall’. In addition, mum lost her appetite and began having night sweats and had really no energy at all. Further visits by the GP led to further blood tests, which showed persistently elevated ferritin and also raised CA125, which led her down the route of ovarian cancer screening, but still no diagnosis. Mum ‘fell’ again on 15th May, but this time we got to her much sooner, following installation of a care button. She was on the floor, confused, as she had been on January 1st.
This was the true start of her decline. Ferritin was still high, and a couple of other non-specific markers were slightly raised, but nothing else. She soon became extremely unwell with suspected sepsis. Mum’s temperature spikes were becoming more and more frequent and difficult to control, but the underlying cause was still unknown. We were trying to remain positive, hoping that when we had a diagnosis, mum could get some treatment and would get better, but the doctors were baffled. Gradually, other blood markers manifested as abnormal, including the detection of antibodies to Epstein Barr Virus, and the decision was made to perform a bone marrow, following which mum was diagnosed with acquired HLH. By this time, she had become almost completely bed-bound. She was transferred to the haematology/chemotherapy ward and was initiated on high dose steroid therapy, while further tests were carried out to try to identify the underlying cause of the aHLH. After a small, initial response to steroids, mum had a further bone marrow, with trephine this time, and many more tests also followed. Unfortunately, the steroid response was inadequate and short-lived and mum deteriorated disturbingly quickly, with increasing loss of function and severity of blood parameters. On 18th June, we were given a diagnosis of aggressive lymphoma in her bone marrow. Mum died the following morning.
For me, this has been particularly tough to accept, as I am a clinical scientist working in a specialist haematological malignancy diagnostic unit, and my specialty is aggressive lymphoma. Knowing there was something quite wrong with mum, but not being able to make the diagnosis in time to save her was extremely difficult to accept. Acquired HLH is extremely rare, with most doctors seeing only a handful of cases in a career. It is difficult to diagnose, and more often than not, once the diagnosis is made, there is no way back, no chance of cure. Earlier, more accurate screening and diagnosis and increased awareness of the potential diagnosis are essential to reduce deaths from this cruel disease in the future. There is limited government funding for rare diseases, and therefore the only way this can improve is if research is funded by charitable donations.
RIP Joan Crosland 13/10/1941-19/6/2019

Title: My Mum Anita, her story – by Barry Skinner

Intro: In mid-August 2018, my mum, Anita (71), fell ill following a trip to London.
She initially had an upset stomach and high temperature. My mum’s GP assumed a virus and asked her to go home, rest and it should pass in a few days. Anita continued to feel more unwell, several more visits to the GP all resulted in her being told it was just a virus that needed to run its course. About 10 days after starting to feel unwell Anita was admitted to a respiratory ward at Royal Bolton hospital in a very poorly state with breathing difficulties. The doctors suspected pneumonia and placed her on high dose antibiotics. After 4 days and no response to the antibiotics, Anita started to have large spikes in her temperature (swinging fever as the doctors called it). Every 8 hours her temperature would spike and she needed IV paracetamol to bring it under control. The temperature spikes started to get closer together, so close in fact she had to try and ride them out because sufficient time had not passed for her to have more paracetamol.

None of the treatment was working and my mum was very sick and had been in hospital for 10 days now. A bone marrow biopsy was taken, and they put her on steroids. The steroids gave her instant respite, her temperature spikes stopped and as a family we were able to spend a little bit of quality time with her. 3 days later the bone marrow results came back which indicated HLH.

We had never heard of it, but the doctors gave us the awful news that it would take our mum very quickly. Anita was too old for a bone marrow transplant and too poorly for Chemotherapy, she died on the 21st September 2018, 9 days after the HLH diagnosis and about 5 weeks after falling ill.

This condition is so rare that doctors are not able to diagnose it quickly I hope that by providing more information the awareness increases and doctors are able to diagnose sooner so that more patients have a better chance to beat this devastating disease.

Title: Vanessa’s HLH Story – by Annette & Terry Powell

Intro: In October 2016 our daughter Vanessa, aged 42, had a slight cough…
After a few weeks, it got worse. She went to her GP who said it was a virus. Some five weeks later the cough still persisted and she went back to the GP who prescribed antibiotics. Vanessa completed the course but was still feeling poorly, and we were concerned about her health as she had always been a healthy person. Just after Christmas Vanessa had an emergency appointment and was then admitted to the Royal Glamorgan Hospital at Llantrisant. After numerous tests she was transferred to University Hospital of Wales, Cardiff, and underwent further tests. After 2 weeks which, by this time Vanessa was extremely ill, HLH was diagnosed. Once this was established treatment began and by the end of January she had made a remarkable recovery. She was sent home on January 31st, 2017 with a medication pack and then had to attend the UHW day-centre on a weekly basis to complete Chemotherapy, which ended on March 10th last. On March 13th Vanessa had a slight cough and temperature and contacted the UHW day-centre, and went back to the day-centre and her antibiotics were changed and she came home.

By Wednesday March 15th despite the antibiotics, Vanessa’s temperature had risen to a critical point and she was re-admitted to the UHW Haematology Ward and then into intensive care. A new type of Chemotherapy drug was introduced but sadly was unsuccessful. Finally, although every effort was made by the medical team to control and eliminate HLH, it was so aggressive that eventually her organs collapsed and she was placed on a life support machine.
However, after consultation with the medical team and a heart-breaking family meeting, it was decided to turn off the machine and let Vanessa die in peace and with dignity, and she passed away at UHW at 12.10 pm on Saturday March 25th, 2017.

For us it was the hardest decision we, as a family had to make, but feel it is the correct one. Our lovely daughter Vanessa is now at rest and nothing can hurt her anymore.


Title: Young Person HLH – Our prefect daughter by Nicola Jackson

Intro: Our perfect 20-year-old daughter was taken ill just before Christmas 2015…
We took her to our local GP, she had swollen glands and was just unwell, she had no sign of infection and so they sent us to the local Ear Nose & Throat outpatients to have it checked out.

Chelsea was diagnosed Glandular Fever, her white blood cell count was quite low, but they were not too concerned, 3 days later Chelsea’s throat was very sore, so we took her to the Emergency Doctors and they diagnosed Tonsillitis. Chelsea was prescribed a 10-day course of strong antibiotics.

After a few days the antibiotics did not seem to be working and Chelsea did not appear to be getting any better, she was struggling to speak and swallow. We took her to the Accident & Emergency and she was immediately admitted, her temperature was really high and she was subsequently transferred to the ENT ward for intravenous antibiotics.

After two days the Doctors said that she had been tested for CMV infection and that her liver and spleen were swollen, Chelsea was placed on antiviral medication and moved to another ward.
Over the next few days her breathing worsened and Chelsea was moved to Intensive Care. Her bloods were all over the place and her body was struggling to cope. Chelsea was placed into an Induced Coma and placed on a kidney machine due to the amount of acids in her blood.

A bone marrow test was taken and this is when the HLH was mentioned, Chelsea would be started on chemotherapy and steroids the next day. A biopsy was also taken on Chelsea’s neck.

We had a telephone call on Sunday 17th January 2016 to say that Chelsea’s organs were failing and that there was no brain function at all, it was just the machines that were keeping her alive.
The family had to make the agonising decision to let our beautiful girl pass on with all of her family around her.

We as a family, hope that we can help raise awareness of this condition in order that it can be investigated and tested for sooner to enable earlier diagnosis, timing is crucial in the treatment of this devastating disease.


Title: Young Person HLH – My Beautiful Daughter by Anne Goldring…

Intro: Anne Goldring shares the devastating story of the loss of her daughter Jo to HLH…
My beautiful 16-year-old daughter Jo took ill at the end of May 2015. She started with just a fever, no other symptoms at all. The fever started spiking to 39 degrees with no change for about two days despite having paracetamol cool baths etc. nothing would bring her temperature down.

After two days we went to a local GP who did a urine sample and said she had a kidney infection gave antibiotics and said carry on with paracetamol.

After 3more days of this treatment she was no better and was transferred to our local hospital. She was taken for an MRI scan and was given multiple antibiotics by IV along with several other medications.

After 3 days she was discharged after having a test which showed glandular fever.

We returned home only for her to deteriorate even more so. After another trip to the local doctor we returned again to our local hospital. She was literally pumped full of more antibiotics paracetamol and was given enough IV protein, put on a strict fluid intake as her kidneys were failing but still they had no idea what they were treating her for.
After five days she had got so bad they had to transfer her to St. Thomas in London. Where she was admitted to intensive care.

The specialists told me that they had never seen such a sick child. By this time, she had fluid around her heart, kidney failure and was very very sick. She was attached to tubes 24 hours a day. She had been there 4 days when they decided that she needed to be on a 24-hour kidney dialysis machine as she had a high amount of ammonia in her blood.

At this point she was kept under complete sedation. From that day they finally found a specialist who took a bone marrow sample and Jo was diagnosed with HLH, by this time it was too late.
For another 4 days we had to watch her deteriorating it was the worst time of our life and I would do anything to make sure no one else suffers like we have.