My Mum is one amazing woman!
2014, I’m in my 4th year of university studying social work. I’ve never been very academic, so completing a uni degree was tough. My mother would read my essays and assignments to help me with my grammar and sentence structure. I was almost finished; one more semester, then placement and I was done. A Social Worker – WOW!
One day next to my mums ICU hospital bed I was reading yet another journal article in preparation to write an essay– yes, through all of this I was still trying to complete my uni assignments. Mum was lying there half asleep-half sedated, (as they still needed to manage her pain) and she says to me “Just Fly Kez”. We now argue about this, because she thinks she said “Just Soar” but I’m sure she said to me “Just Fly” lol Funny how you remember things in times of struggle. Whatever the word, the meaning is still incredibly significant. Mum wanted me to Just Soar – Just Fly – just continue with life, finish my degree and be a wonderful woman and social worker even if she died.
Early that year my mother went back to work as the Business Manager, after an overseas cruise, with a slight cold. After a few weeks the cold was not going away or getting any better. Mum is one determined and stubborn woman and rarely took a sick day, this cold was no different and she just kept pushing through working 8-6.
My parents then ran the local election polling booth, which meant training, set up, meetings and working after their normal job and on weekends. Her cold got severely worse and finally her body had had enough. She was weak, sensitive to light and severely dehydrated.
My father and I forced her to the doctor, who put her straight into our small local rural hospital for intravenous fluids, antibiotics and some blood tests. The results of the blood tests came in before the first infusion had been completed together with an urgent message from the doctor saying that my mother needed to be transferred to a major hospital as the results of her blood tests were alarming.
Mum was taken by ambulance to the Flinders Medical Centre where she was triaged and immediately after she was admitted she had a blood and platelet transfusion. However, mum reacted badly to the transfusion and after chest X-rays, MRI and CT Scans she was sent off to ICU. Within 2 days my mother was placed in an induced coma and intubated in order for her body to “rest”.
My mother was succumbing to pneumonia, meningitis, hepatitus, sinusitis, encephalitis, glandular fever and multi organ failure affectingher brain, heart, kidneys, liver and spleen. The doctors literally had no idea what was happening to her and were desperately trying to put out all the fires but couldn’t pinpoint what the root cause was. For us it was a nightmare – on minute mum was fine the next she was dying in a hospital bed.
I remember exactly the moment my heart broke and my whole world collapsed around me. Two doctors came into the ICU room to speak to my father about my mother’s condition. They told us that there was no hope; that her organs were shutting down, that she would not recover and they had no idea how to help her. Their words echoed in my ears “she will not leave this hospital alive”. Mum was everything to me. I could not imagine my life without her. And I couldn’t understand how this could happen, how could my mum who hasn’t done anything but exude kindness be dying right before my very eyes.
My mother was quite a religious person and even though she was under heavy sedation she still found a way to communicate with us (unbelievable the nurses said). We held her finger to the palm of our hand and she would draw letters of the alphabet to create words for us to decipher. Her favourite one was “gods will”. Meaning its Gods will if she dies or if she lives. Now I’m a very suborn woman myself and I didn’t want to lose my mum so I my response to her when she would say that was “No! Don’t you dare leave me! You have to fight this; you have to fight to stay alive!” My sister’s response was one from our favourite movie Lorenzo’s Oil - “Mum, you’ve got to tell your brain to tell your body to tell your immune system to slow down”.
There were a team of doctors working around the clock to decipher what was going on with my mother and why she was dying. They were made up of haematologists, immunologist, gastroenterologist, cardiologists and a rheumatologist. It was at one of these round table meetings (about 1.5 weeks after mum went into ICU) that one of the junior haematologists suggested HLH. He was the only one on the team that had ever seen it before. He was aware of only 5 cases with only one survivor. EBV driven HLH was confirmed, a plan of action formed and the doctors commenced immediately to shut down my mum’s immune system and control the damage.
So what is HLH?
Haemophagocytic Lymphohistiocytosis (HLH) is a rare and severe disorder characterisedby abnormal activation of the immune system. The resulting inflammation rapidly attacks various parts of the body leading to multi-organ failure. HLH is 100% fatal within eight weeks if left untreated and has a 40-50% mortality rate with current available treatments.
In patients with HLH, the immune system does not work as it should. This is due to rapid and uncontrolled growth of the body’s defense cells, called lymphocytes and macrophages. Normally, these cells keep our bodies well by destroying infected or damaged cells. However, in patients with HLH, these cells not only destroy infected or damaged cells, but they do not ‘shut off’ as they should and go on to destroy other cells such as red blood cells, platelets, and neutrophils within the body. In HLH immune cells engulf other cell types, a condition called ‘blood-eating’ or ‘haemophagocytosis’, which damages the bone marrow and other organs.
Macrophages and lymphocytes can also build up in organs like the skin, spleen and liver. This causes fevers and can damage the liver and spleen.
There are two types of HLH,primary HLH (genetic) and secondary HLH (acquired). Both are life-threatening.
What is the difference between Primary and Secondary HLH?
Primary HLH is caused by an inherited problem in genes that control how the immune system kills virus-infected or other abnormal cells in a person’s body. Most cases occur primarily in infancy or childhood, although more are now being reported in adulthood.
Secondary HLH can occur when the immune system is disturbed (e.g. infections, viruses), but not because of an inherited condition. In these cases, HLH can occur for a variety of different reasons and can also be related to other underlying conditions including cancer and autoimmune diseases.
What triggers HLH?
Sometimes HLH can be triggered by a virus like EBV, the virus that causes glandular fever. The defense system continues to be stimulated and is over activated because the body’s immune system is unable to ‘switch off’. If HLH is not treated the continuing inflammation can damage the patient’s own body, including organs.
How is HLH diagnosed?
HLH can be challenging to diagnose because the initial symptoms may mimic common infections. Traditionally, HLH is diagnosed of at least five of these eight criteria are fulfilled
• Fever (over 38.5 degrees Celsius)
• Elevated Ferritin• Enlarged Spleen/Liver
• Cytopenias (low blood counts)
• Elevated Triglycerides, and/or low levels of fibrinogen
• Low or absent NK cell activity
• Elevated soluble IL-2 receptor
There is a lot about HLH that is not well understood and there would be many doctors that know very little about it and because of the way HLH presents itself, it is very non-specific. You could have fevers and low blood count, but there are a lot of things that can cause that.
It is one of the reasons that HLH is rarely diagnosed until the death of the patient and an autopsy reveals HLH.
What tests are used in diagnosing HLH?
HLH can only be diagnosed with the appropriate blood tests. These tests may include looking at blood cell counts, evidence of liver inflammation, as well as monitoring immune system activation through blood tests such as ferritin and soluble IL2 receptor levels. A sample of bone marrow to look for haemophagocytosis. A spinal fluid sample may be collected of there is concern about inflammation in the brain.
How is HLH treated?
The goal of treatments is to decrease the body’s overwhelming inflammatory response, and reset the immune system by suppressing it. The only real cure for HLH is bone marrow transplant (BMT).
Typically patients are treated with steroids and chemotherapy. Other immunosuppressant medications may be used as well if the inflammation is unable to be claimed down with this regime.
Additionally, medications to specifically target any infection that may have triggered the HLH may also be required. All of these drugs will suppress the immune system and so, it is likely that medication to prevent infections will also be given.
With treatment, HLH may come under control after a few weeks. However, it may flare again later, as treatment is decreased, and a patient may need further treatment.
Many patients with secondary HLH who respond to immune suppressive medications will not have a repeat episode of HLH and will not require BMT.
Patients with primary HLH have a very high risk of reoccurrence even if the inflammation of the initial episode is under control because of the abnormal gene in their cells. Often, patients with primary HLH may need a bone marrow transplant (BMT) to replace their immune system.
A BMT can provide patients with normally functioning macrophages and lymphocytes, (cells in the immune system) which will them be able to switch of at the right time. This prevents further episodes of HLH.
HLH is a deadly disease that can affect people of all ages and tonic groups. This disease can occur in anybody at any time. There are no obvious predisposing factors where we can predict that someone is more at risk than another. It can be anybody. Anybody can get HLH and it’s not something that you can prevent. If HLH is thought of and diagnosed quickly and treatment started earlier the survival rates would improve. If it is only though of when the patient is really unwell, then survival is not going to be high.
After an initial high dose of steroids to reboot mums immune system mum’s stats began to perk up but she was far from being out of the woods yet. The damage to her organs was a critical stage where they could recover or they could be so damaged that they would end up failing anyway. Mums ongoing treatment required high doses of steroids and the chemotherapy drug Rituximab (MabThera) which required special funding approval. The chemotherapy was necessary to kill off her B Cells which in turn would kill off the EBV as she was still in danger of relapse.
However, remember when I said my mother is one amazing woman, well I did not lie. Mum slowly began to recover, was brought out of sedation and transferred to a high care ward. Due to the sedation and the deterioration of cells (brain and organ damage) she had to start from scratch – retrain her brain to breath, walk, talk, eat, and sit up on her own. She spent two months on the recovery ward working hard to regain her strength. The nurses gave her a buzzer to call them; however, she did not have the strength in her hands to fully depress the buzzer, all her muscles had atrophied. She was also given a child’s colouring activity book which included number dot to dot, crosswords and find the words, helped her regain some of her concentration again. Everything was so hard for her. Everything was too loud, too bright, too busy, her mind just couldn’t process anything. Mum had gone from a highly functional business woman to not even being able to make a decision of what to have for lunch.
Slowly mum got stronger, she was one determined women – determined to get out of that hospital and prove those doctors wrong. Mum had daily physiotherapy, together with Hydrotherapy, multiple blood transfusions, blood tests, managing cardio myopathy and all the hypos from stress induced diabetes. It was tough on her system and there was still a risk that it wouldn’t work. It has been a long road to recovery and mums will and determination has helped her through some dark days. There was however a sense of constant dread, one germ, one infection, one illness and it could all go downhill again. For months – years we had this anxiety that we were at risk of losing her again.
My mother has now recovered and is in what they called HLH remission; however her blood tests do show a continued abnormal cell production and “odd” blood work. Doctors believe that she has an underlying type of leukaemia but are waiting for other symptoms to arise before treatment is recommended (very frustrating – like the council knowing a certain section of road is dangerous but waiting until someone has severe accident before changing the speed limit). Since my mother’s recovery she has worked extremely hard with a doctor in Victoria creating the HLH Registry. Although the clinical picture of HLH is known and many individual case reports exist, no systematically collected data on diagnoses, comorbidities, used therapy protocols, clinical and laboratory parameters, therapy and outcome of HLH-patients exist. So having the registry can hopefully help other doctors (all around the world) diagnoses and treat HLH early enough to lower the terribly high morbidity rate. That’s what she’s fighting for now.
Me? The trauma of this event has deeply affected me. Even writing this and remembering those significant moments I’ve cried, felt pain in my stomach and an ache in my heart. But I’ve also felt Joy! Joy that my mum is alive and enjoying life again. Joy that I get to tell her I love her and hear her words of wisdom. Joy that I finished my Social Work degree and working in an industry that I love. Joy that I have a loving partner and a future that I work hard for. Joy that I have the ongoing ability to do things that are important to me. One of which is to fight for a significant cause. The trauma that my mother and our family went through is something I wouldn’t wish on anyone. So I fight to raise money to help the Cancer Council find answers, to provide support for hospitals and to put an end to the terrible suffering.
Will you help me?