Acquired von Willebrand Syndrome in Aortic Stenosis
'I Was So Scared Of Needles I Risked Paralysis - Then I Found Answer'
Many people don't like the idea of injections or needles. But for one woman the fear was so intense that she was ready to face being paralysed for life rather than have a blood test.
Sarah Entwistle, 30, a physics teacher from Bury, is speaking out about her extreme needle phobia to show others with phobias that they can come out of the other side. Born with Von Willebrand disease, a rare form of haemophilia that affects the blood's ability to clot, Sarah needed to have regular blood tests to monitor her physical health.
As a child, she spent a lot of time in and out of hospital and would need blood transfusions after something as simple as a nosebleed.As she grew older and needed more treatments and tests, her phobia grew stronger. At every appointment she would cower away, cry, and ask to be left alone. Her phobia of needles also restricted her from travelling, and she also decided not to have children as inevitably she would need some blood tests during pregnancy.
"As far back as I can remember, I was scared of having the meningitis injection in primary school so as young as age eight," Sarah remembers. I literally cannot remember not being scared or even being indifferent towards them. It was my life and sort of part of my identity that I was scared of them.
"Because of my haemophilia I had to have a lot of blood tests, usually thumb pricks which did hurt. I think because I had no choice but to have them despite trying to bargain with my mum and the doctors every time I went to hospital, when when I turned 18 and was in charge of my own health I just avoided everything to do with needles completely hoping anything and everything would go away.
"I was willing to face life-long paralysis in two thirds of my body, and also was close to a heart attack in my early 20s because I was so severely anaemic. I had a newfound sense of control with being an adult and being away from home. I'd gotten to the point where I felt I'd been all right for such a long time without a test, that I started to get comfortable with it. I felt like I could live without them and ignore my situation.
"I'd always ruled out having children. I knew how closely I'd need to be monitored during pregnancy, so it meant that it was just completely off the cards for me. I'd always wanted to travel, but so many countries need immunisations and vaccines before you can fly, so it really limited my options as to where I could go."
Born with Von Willebrand disease, a rare form of haemophilia that affects the blood's ability to clot, Sarah needed to have regular blood tests to monitor her physical healthIn her early adult years, Sarah began to ignore appointment letters and was eventually discharged from the service. When she turned 21, Sarah became severely anaemic and was rushed to hospital. She refused to have a blood transfusion as her phobia took hold, and it was only when the medical team stressed how life threatening her condition was, that Sarah accepted a transfusion.
"They told me I was close to having a heart attack," she recalls. "I was desperate for a way out, but on this occasion, I knew I had to do it to save my life."
But the true turning point came in December 2022, when Sarah found herself paralysed by a bleed on her spinal cord and was urgently referred for spinal surgery. She panicked at the thought of needing a blood test again and discharged herself against medical advice. Still unable to move, and with her condition worsening, she was taken back to the hospital.
"I just couldn't accept what they needed to do," Sarah explains. "At that time, my phobia of needles was stronger than my fear of not walking again."
Eventually they gave an option to put her to sleep before starting the surgery and using any needles, so Sarah agreed to go ahead with treatment. After nearly three weeks in the hospital recovering, Sarah had an appointment with her haematologist, who mentioned NHS Bury Talking Therapies, run by Pennine Care NHS Foundation Trust, and sent across a referral.
Sarah met with Joanne Gisbourne, a cognitive behavioural therapist, and immediately noticed an improvement. "My treatment was baby steps, working at my pace, which was very, very difficult at the start," Sarah recalls. "After my first exposure session I curled up in a ball on the sofa and told my best friend I couldn't do it.
"I'm normally an optimistic and determined person but this was something I felt was literally impossible and I was never going to get through. I continued to work through it, stopping when I needed to, reviewing the exposure as much as I could until it became bearable, and then until I got used to it.
"I requested two weeks between appointments because of having a busy life and job and I was determined to put everything into it. I tried to allow time every evening to expose myself to the section of the hierarchy we were working on at that time, such looking at images of needles not in people, and I would try and do this every evening after work when I was home, changed, and comfortable."
Learning about how phobias develop helped Sarah to put her fear of needles in perspective. "I realised that phobias are fabricated by your brain and just because it feels normal to you to be scared of it doesn't mean it's normal," she adds.
"I would also say that therapy, although it might sound like a niche thing you're scared of, you are ultimately working with experts who have the tools to help and, if you put the work in, is truly incredible. It's also insanely difficult, and you have to re-live and work through possibly the worst parts of your life, and all the things you have been suppressing."
Sarah Entwistle is speaking out about her extreme needle phobia to show others with phobias that they can come out of the other side (Image: Sarah Entwhistle/Cover Images)After 11 sessions, Sarah has been able to overcome her phobia, and has even managed to have multiple blood tests. "Since finishing therapy, I have booked myself in for three blood tests, and seen them all through," she says. "I have watched the entire procedure, including it going in, and stayed completely calm and reminded myself about what I learnt - appointments that used to last hours are now a few minutes.
"I still watch needle videos and continue the exposure. My friends and family cannot believe the difference a short amount of therapy sessions has made. I was also putting off going to the dentist for the same reason and now I have had two appointments and have another next week.
"I feel like I no longer need to run from something that is going to help me. I am also going to be taking my cat for his annual injection which I have never done before - he's nearly 9 years old and someone else has always taken him."
Sarah wants to tell others struggling with phobias that it is possible to come out of the other side and live a full life. "Phobias are possible to overcome, and therapy really does work," she adds. "I was willing to face life-long paralysis so I didn't have to have a blood test!
"And I discharged myself despite having severe pains in my body because I was so scared. I would also love to give Joanne Gisbourne, my therapist, the biggest shout-out for her incredible work and patience with me - her and my haematologist Dr Thachill, who referred me, have vastly improved the quality of my life and given me the chance to live a longer and healthier life!
"Joanne knew exactly what to do. She understood me and knew the right stepping stones for me. She was incredibly patient and reassuring and worked flexibly around me to get the best possible results. For the first time in my life I can think about needles and not feel anxious or afraid. I feel like I've got control over my body again and can live a much healthier and fulfilled life. I am so grateful."
Find out more about NHS Talking Therapies: https://www.Penninecare.Nhs.Uk/burytalk
Blood Diseases
Do you know what is your blood made up of? There are several components of blood- red blood cells, white blood cells, platelets and plasma. Your blood majorly consists of plasma which is the liquid part and consists of protein and salts. Red blood cells work to supply oxygen to the tissues, white blood cells are important to fight infections and platelets help in clotting. When one or more parts of the blood get affected by blood diseases, your blood is unable to perform its core functions. In most cases, blood diseases are hereditary but there are several other reasons such as other diseases, deficiency of nutrients and side-effects of medications, that can cause a blood disease to occur.
What are the symptoms of a blood disease?
Symptoms of blood diseases are different from one another. It depends on what part of the blood is affected and how severe it has become. Let us tell you the general signs of a blood disease.
Symptoms of red blood cell diseases:
Symptoms of white blood cell diseases:
Symptoms of platelet diseases:
Blood Diseases Affecting Red Blood Cells
Anaemia: This is a very common blood disorder that is caused when the number of red blood cells becomes too low in the blood. Mildly anaemic people don't show significant symptoms but severe anaemic people may experience a problem in breathing, fatigue and pale skin.
Iron-deficiency anaemia: You must have heard that iron is very important for the body. It is because it makes red blood cells. When you don't consume an adequate amount of iron, it causes iron-deficiency. Menstruating women should have iron to combat red blood cell loss during periods.
Chronic Disease Anaemia: People who have chronic diseases like kidney diseases are highly likely to develop anaemia. This doesn't require treatment as this can be managed by a synthetic hormone named Epogen or Procrit to increase the production of red blood cells. Only some patients may require blood transfusions.
Pernicious anemia or vitamin B12 deficiency: If you are not consuming enough vitamin B12 or your body is unable to absorb this vitamin from your diet, this anaemia may be caused. The common cause of this condition is an autoimmune disease.
Aplastic anemia: In this disease, there is a problem with the bone marrow as it doesn't produce enough red blood cells. Hepatitis, pregnancy, HIV, chemotherapy medications and side-effects to any drug may be causing this condition. If the condition is not treated with medications and blood transfusions, the patient may need a bone marrow transplant.
Autoimmune hemolytic anemia: When the red blood cells are destroyed due to an overactive immune system, it causes hemolytic anaemia. Immune-suppressing medicines can help in controlling this condition.
Thalassemia: This is a chronic blood disease wherein the patients are administered blood transfusions regularly.
Polycythemia vera: Excess of red blood cells is also injurious to health. If the body produces too many red blood cells, it may cause unnecessary blood clots.
Malaria: Not many people know but malaria is also a red blood cell disease where the mosquito carrying the parasite bites a person and injects the parasite into the blood. This causes infection in red blood cells and leading to numerous symptoms.
Blood Diseases Affecting White Blood Cells
Lymphoma: This is a kind of blood cancer where a white blood cell named lymphoma becomes malignant and starts to multiply and spread abnormally. The two types of this cancer are- Hodgkin's lymphoma and non-Hodgkin's lymphoma. Radiation therapy and chemotherapy can reduce the damage and cure this cancer condition.
Leukaemia: This is another blood cancer where white blood cells inside the bone marrow become malignant. Leukaemia may be slow progressing or severe and the best ways to combat this condition are bone marrow transplant(stem cell transplant) and chemotherapy.
Multiple myeloma: This is another blood cancer where plasma cell becomes cancerous and releases a dangerous substance that can cause damage to organs. There is no cure for this condition but treatments like chemotherapy and stem cell transplant can extend the life span of the patient.
Myelodysplastic syndrome: This is a slowly-progressing syndrome that is a blood cancer. This can progress into acute leukaemia.
Blood Diseases Affecting Platelets
Thrombocytopenia: When the number or platelets in the blood are very low, thrombocytopenia condition can be caused. This disorder is characterised by abnormal bleeding.
Heparin-induced thrombocytopenia: This thrombocytopenia condition is induced by heparin which is a blood thinner that helps in the prevention of blood clotting. This can cause a low platelet count. Abnormal bleeding, abnormal bruising and red spots on the skin are symptoms of this condition.
Thrombotic thrombocytopenic purpura: This is a very rare condition where clotting occurs in the blood vessels leading to a drop in the platelet count.
Primary thrombocythemia or Essential thrombocytosis: In this condition, the body produces excess platelets due to either reason but these don't use up properly leading to bleeding and excessive blood clotting.
Blood Diseases Affecting Blood Plasma
Haemophilia: This is a deficiency in genes where some proteins trigger the blood to clot. Depending on the severity of the condition, there are different types of Haemophilia.
Hypercoaguable state: This is a condition where the blood easily clots and in most cases, this condition goes unnoticed and undiagnosed. Some people may suffer from this condition throughout their lives and some have a severe form of this condition where they may need to take blood thinning medicines daily to combat the situation.
Deep venous thrombosis: In this blood disorder, blood clotting occurs in the deep vein which is mostly in the leg. This disease can travel to your vital organs where it may also cause a pulmonary embolism.
Disseminated intravascular coagulation (DIC): This is a blood disease that causes unnecessary bleeding and small blood clots in the entire body. Several conditions like pregnancy complications, recent surgery and severe infections can lead to this condition.
von Willebrand disease: In this blood disorder, the body either produces too little or too high von Willebrand factor protein. This protein is essential in blood clotting. In most cases, this disease is inherited but sadly, it doesn't have visible symptoms.
Cutting Up Clots: How A Deficient Enzyme Leads To Rare Blood Disease
Activated platelets bind adhesive proteins, such as fibrinogen and von Willebrand factor, from plasma - forming clots in the bloodstream. Credit: Dennis Kunkel Microscopy/SPL/ALAMY
In 1924, physician Eli Moschcowitz presented the world with a baffling new case: a teenager who had collapsed and died from a mysterious illness that left her body riddled with tiny blood clots.1 Now known as thrombotic thrombocytopenic purpura (TTP), this rare disease features a dramatic reduction in platelets caused by clots that are formed in blood vessels. This can have potentially life-threatening consequences, damaging organs like the brain, kidneys and heart, and destroying red blood cells, leading to anaemia. Patients may also experience chronic symptoms including tiredness, fever, headaches, and more.
It took decades to determine, but scientists now know that the cause is a deficient enzyme: ADAMTS13.2 Better understanding of this enzyme could create opportunities to help patients with blood clotting disorders.
The clot culprit
Structure of ADAMTS13, a key regulatory protease in the blood clotting process. Credit: Wikimedia Commons
A key protein in the blood clotting process, called von Willebrand factor (VWF), protrudes as a long multimeric chain from the lining of blood vessels, unravelling as it encounters blood flow. Left unchecked, VWF molecules trap passing platelets and promote the development of tiny clots. Normally, ADAMTS13 acts as a natural scissor, keeping VWF pruned back. "When these long VWF multimers are not cleaved by ADAMTS13, VWF-platelet aggregation occurs, leading to TTP," says Karen Vanhoorelbeke, a biochemist at the University of Leuven (KU Leuven), Belgium.There are two types of ADAMTS13 deficiency: congenital TTP (cTTP), caused by mutations in the ADAMTS13 gene, and immune-mediated TTP (iTTP), caused by an autoimmune response to ADAMTS13. People with TTP can sometimes live for years without symptoms, Vanhoorelbeke explains. "Only with a trigger, like an infection, pregnancy, trauma or surgery, will TTP set in."
Current management options either add donor plasma to the bloodstream to replace the deficient ADAMTS13 in cTTP, or partially exchange a patient's plasma with donor plasma to treat acute cTTP and iTTP events – removing the autoantibodies and adding functional ADAMTS13 activity. Immune modulators, antibody therapy and corticosteroids to suppress antibody production can also be used to treat an acute iTTP event. Though these plasma therapies help many TTP patients to survive, they are time-consuming, insufficient in restoring ADAMTS13, and are associated with their own side effects, such as allergic reactions. Patients continue to experience risk of life-threatening clots, chronic symptoms and a reduced quality of life.
New directions
Researchers like Vanhoorelbeke are now targeting the ADAMTS13 enzyme itself. "We are focusing on an easy-to-use diagnostic immunoassay for measuring ADAMTS13 activity, something TTP patients could even use at home," she says. Monitoring ADAMTS13 activity may be important to help control or prevent disease symptoms.
Karen Vanhoorelbeke's work is focused on unravelling the function of ADAMTS13 and its role in health and disease.Credit: Dr Vanhoorelbeke.
Other scientists are developing recombinant ADAMTS13 (rADAMTS13) that could be used to replace the missing enzyme in cTTP. Preliminary data from a phase 3 study of rADAMTS13 in cTTP, presented at the ISTH Congress but not yet peer-reviewed, demonstrated strong efficacy and a favourable safety profile compared to plasma-based therapies, and further studies are underway.3Treating iTTP patients with rADAMTS13 is more complicated: the therapy needs to overcome ADAMTS13 autoantibodies. Researchers are exploring different rADAMTS13 dosing regimens and a phase 2 study is ongoing.4
Vanhoorelbeke hopes that rADAMTS13 could one day transform patients' lives in the way that another recombinant protein, Factor VIII, has helped patients with the bleeding disorder haemophilia A. Decades of research have defined the impact of ADAMTS13 deficiency on blood clotting, and a century on, Moschcowitz's observations are potentially translating into promise for patients in the rare disease he first described, and beyond.
To learn more about some of the research taking place on ADAMTS13 in rare blood diseases, visit Takeda's webpage.
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