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Mum-of-three, 42, With 'chest Infection' Becomes First Person In The World To Be Diagnosed With Ultra-rare Cancer
A MUM-of-three was told she had a chest infection after she struggled to breathe.
But after the antibiotics she was given failed to ease her suffering, Alison Varley, 42, was diagnosed with a "rare upon rare" cancer.
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Alison Varley, 42, is believed to be the first person in the world to be diagnosed with an ultra-rare cancerCredit: Yorkshire Live/MEN Media3
The mum of three was diagnosed with goblet cell carcinoma after struggling to breatheCredit: Yorkshire Live/MEN MediaThe mum from Ossett, West Yorkshire, is thought to be be the first person in the world to be diagnosed with this form of the disease.
She was referred to three different hospitals after her diagnosis of goblet cell carcinoma in 2021 - just six months after the birth of her second daughter.
As the genetic makeup of Alison's cancer is unlike any seen before, she said doctors are "struggling" to treat her.
The mum-of-three first underwent immunotherapy, which caused her cancer to grow and has just started her first round of chemotherapy as she continues to battle the disease.
Her friend Adam Billington has set up a fundraiser to help the family with day-to-day costs.
'There is no one with my cancer'Months after the birth of her second daughter Delilah, Alison went to hospital after struggling to breathe and suffering what she thought was a chest infection.
She told YorkshireLive: "I thought I had a chest infection and couldn't breathe very well. I went to the doctors and was given a week's course of antibiotics.
"They didn't touch it. I went back and had three more days and my husband said to call 111 and they sent an ambulance.
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'IN PLAIN SIGHT'
Girl died of little-known virus after doctors said she 'just had a cold'"They did a CT scan and found five litres of fluid in my right lung. They tried to drain the fluid and did a CT scan and found a large mass on my ovary."
Doctors said Alison's cancer had started in her appendix before spreading to her bowel, ovary, and rectum.
Alison said: "It's rare upon rare upon rare. There is no one with my cancer. The genetic make-up of it is like no other in the world.
"There are people with goblet cell, but not the genetic make-up.
"That's why they're struggling with me because there is no one in front of me [with it.]"
Gruelling treatmentUnder the care of St James's University Hospital in Leeds, The Christie in Manchester, and Basingstoke and North Hampshire Hospital, Alison underwent immunotherapy, which she said caused a growth in her cancer.
Immunotherapy is a treatment that uses the immune system to fight cancer, helping it recognise and attack it.
It can be given on its own or in combination with other treatments.
Once doctors noted a growth in her cancer, Alison said they stopped the immunotherapy "immediately".
She underwent no treatment for nine months as doctors didn't want to aggravate the disease, in which time the cancer only grew "slightly".
But after experiencing bowel issues, Alison went back to hospital in March this year.
A colonoscopy revealed that the tumour had grown and spread further into her bowel.
Alison explained: "An oncologist came to see me and he said the cancer has grown and he thinks it is in the bowel.
"It has grown quite a bit which is shocking. I only had a colonoscopy in November and he said it was clear and fast forward to March...
"They arranged to put a stent in my bowel to open it up."
The stent expands and holds the bowel open so poo can pass through it again, staying in place to keep the bowel open.
Following the procedure, doctors next step was to start treating Alison's cancer with chemotherapy, which should last for the next three months.
Alison, who is also mum to Charlie, 20, and Daisy, four, with husband Matthew, said: "I'm absolutely terrified. I'm scared for my kids.
"It's worrying because I'm going to be trying chemotherapy. I don't know if it's going to work."
She said her youngest daughter Daisy had been asking why she was still at the doctors and not coming home.
A helping handAlison retired after her diagnosis and receives a pension and personal independence payment [PIP] - which she said she was initially rejected for because it was said she was "not poorly enough."
To help the Varley family out with day-to-day costs, the mum's friend Adam set up a crowdfunding campaign which he hopes will ease their financial burden.
Asked about donations, Alison said: "It really does mean the world to me. I appreciate every last one of them.
"When I'm poorly and curled up in my bed because I can't move, my kids will have food in the cupboards and I can put the heating on when it's cold."
The mum said she recently went "extra" for little Delilah's fourth birthday, as she doesn't know if she'll be around for a next one.
Alison said: "It's hard not to talk about dark things when you're in my shoes.
"I don't know if this is going to be my last Christmas or birthday with them. I don't know what is going to happen.
"They said it [the cancer] was stable but all of a sudden it's growing. I don't understand."
What is gobelt cell carcinoma?
GOBLET cells line the internal organs and make mucus.
Goblet cell carcinomas are a type of neuroendocrine tumour (NET) and start in the appendix.
Accoridng to The Christie NHS Foundation Trust, it only affects one to two people per million.
It's usually found unexpectedly and diagnosed during surgery for other reasons, typically an appendicectomy for suspected appendicitis.
It may also present as abdominal pain or swelling.
As the cancer can at first cause no symptoms, it can be difficult to detect.
A few patients have pain in the abdomen and some notice an increase in the size of their abdomen, The Christie said.
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Alison underwent immunotherapy and has now started a three month round of chemoCredit: Yorkshire Live/MEN MediaViral Infections Linked To Appendicitis
A new study by UT Southwestern Medical Center surgeons and physicians says that appendicitis may also be caused by a virus and that you can actually "catch" it.
The researchers evaluated data over a 36-year period from the National Hospital Discharge Survey and concluded in a paper appearing in the January issue of Archives of Surgery that appendicitis may be caused by undetermined viral infection or infections, said Dr. Edward Livingston, chief of GI/endocrine surgery at UT Southwestern and senior author of the report. The review of hospital discharge data runs counter to traditional thought, suggesting that appendicitis doesn't necessarily lead to a burst appendix if the organ is not removed quickly, Dr. Livingston said."Just as the traditional appendix scar across the abdomen is fast becoming history, thanks to new single-incision surgery techniques that hide a tiny scar in the bellybutton, so too may the conventional wisdom that patients with appendicitis need to be operated on as soon as they enter the hospital," said Dr. Livingston. "Patients still need to be seen quickly by a physician, but emergency surgery is now in question."
Appendicitis is the most common reason for emergency general surgery, leading to some 280,000 appendectomies being performed annually.
Appendicitis was first identified in 1886. Since then, doctors have presumed quick removal of the appendix was a necessity to avoid a subsequent bursting, which can be an emergency. Because removing the appendix solves the problems and is generally safe, removal became the standard medical practice in the early 20th century.But this latest research studying appendicitis trends from 1970 to 2006 suggests immediate removal may not be necessary. Evidence from sailors at sea without access to immediate surgery and from some children's hospitals, whose practice did not call for emergency surgery, hinted that non-perforated appendicitis may resolve without surgery, said Dr. Livingston.
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In undertaking the study, the researchers screened the diagnosis codes for admissions for appendicitis, influenza, rotavirus and enteric infections. They found that seasonal variations and clustering of appendicitis cases support the theory that appendicitis may be a viral disease, like the flu, Dr. Livingston said.Statistical data revealed peaks, which may be outbreaks of appendicitis, in the years 1977, 1981, 1984, 1987, 1994 and 1998. In addition, researchers uncovered some seasonal trends for appendicitis, documenting a slight increase in appendicitis cases during the summer.
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"The peaks and valleys of appendicitis cases generally matched up over time, suggesting it is possible that these disorders share common etiologic determinates, pathogenetic mechanisms or environmental factors that similarly affect their incidence," Dr. Livingston said.Researchers have been able to rule out flu and several other common infections as a direct cause. They also were able to rule out several types of intestinal viruses.
Appendicitis afflicts about one in 10 people during their lifetime. The condition occurs when the appendix becomes obstructed, but doctors are unsure why. Dr. Livingston and other UT Southwestern researchers in 1995 identified an unexpected rise in appendicitis cases, reversing a downward trend throughout the previous 25 years.
"Though appendicitis is fairly common, it still remains a frustrating medical mystery," Dr. Livingston said. "While we know surgical removal is an effective treatment, we still don't know the purpose of the appendix, nor what causes it to become obstructed."
Source-EurekalertRAS
What To Know About The Early Symptoms Of Appendicitis
Appendicitis occurs when the appendix becomes inflamed. Early symptoms can vary between age groups, but severe and sudden abdominal pain is usually the first symptom.
The symptoms of appendicitis can be uncomfortable, painful, and potentially life threatening if left untreated. Because of this, it is important to be able to recognize them.
Appendicitis can occur at any age but may be more likely to occur in late teens and young adults.
This article explains the early symptoms of appendicitis. It also discusses diagnosis, treatment, and recovery from appendicitis.
The appendix is situated on the right, lower side of the abdomen. It is a tube-shaped piece of tissue that is closed at one end. It is attached to the cecum, a pouch-like portion of the colon, or large intestine.
Sudden appendicitis is the most common cause of acute abdominal pain requiring surgery in the United States, with over 5% of the population developing appendicitis at some point.
Severe and sudden abdominal pain is usually the first symptom of appendicitis.
The pain often begins near the belly button. As it worsens, it will likely shift to the lower right side of the abdomen.
The feeling may become more intense within a few hours and be worsened by moving around, taking deep breaths, coughing, or sneezing.
Other symptoms of appendicitis include:
However, these symptoms appear in only around half of the cases of appendicitis.
Some people may experience symptoms such as stomach pain very slightly or not at all.
Learn more about appendicitis.
Symptoms in children and infantsChildren and infants may not experience pain in one specific area. There may be tenderness throughout the body, or there may be no pain.
Children and infants may have less frequent or no bowel movements. If diarrhea occurs, this may be a symptom of another illness.
While children and infants may not experience precise pain as older people do, research suggests that abdominal pain is still the most common symptom of appendicitis symptom for this age group.
Symptoms in older adults and during pregnancyOlder adults and people who are pregnant may also experience different symptoms. The stomach pain may be less severe and less specific. Possible symptoms include nausea, vomiting, and fever.
During pregnancy, the pain may shift upward toward the upper right quadrant after the first trimester. There may also be some back or flank pain.
If there is stomach pain, this may result from another condition.
What can be mistaken for appendicitis pain?Abdominal pain can be a symptom of other conditions that can be mistaken for appendicitis.
Examples include:
Appendicitis can be life threatening, and it requires immediate medical care. It is likely to worsen the longer it is left untreated. Initial symptoms may feel like gas.
If over-the-counter (OTC) medications do not relieve the gas, or if there is severe and worsening pain, the individual should contact a healthcare professional at once. It may be advisable to go straight to the emergency room.
Treating appendicitis as soon as symptoms appear will prevent it from worsening and causing further complications.
Read about the differences between appendicitis and gas.
A healthcare professional will normally diagnose appendicitis by reviewing symptoms and performing a physical exam. They may also order some laboratory tests in order to confirm diagnosis.
Physical examThe healthcare professional will most likely perform a physical exam to find out more about the individual's stomach pain. They will typically apply pressure to or touch certain areas of the abdomen.
They may also recommend pelvic and rectal exams.
Laboratory testsBlood and urine tests can help confirm an appendicitis diagnosis or detect signs of other health issues. A healthcare professional may also ask for blood or urine samples to check for pregnancy.
If necessary, they may also order imaging tests, such as an abdominal ultrasound, MRI scan, or CT scan.
These imaging tests can show:
Treatment normally begins with antibiotics and IV fluids. Some mild cases of appendicitis can be treated completely with antibiotics.
The most common next step is surgery, known as an appendectomy. Removing the appendix decreases the risk of it rupturing. Early treatment is important to reduce the risk of complications, which can be fatal.
There are two types of appendectomy surgery doctors may use. It is important for a person to follow all postoperative instructions from their surgical team.
Laparoscopic surgerySurgeons make several small incisions and use special tools to remove the appendix through them.
Benefits of laparoscopic surgery include:
Individuals should limit their physical exercise for the first 3-5 days after surgery.
Laparotomy surgerySurgeons remove the appendix through a single incision made in the lower right area of the abdomen. This may be necessary for a burst appendix.
It allows the surgeon to clean the inside of the abdomen to prevent infection.
Individuals should limit their physical activity for the first 10 to 14 days after a laparotomy surgery.
Delaying treatment can seriously increase the risk of complications.
Inflammation can cause the appendix to rupture, sometimes as soon as 48 to 72 hours after the symptoms begin.
A rupture can cause bacteria, stool, and air to leak into the abdomen, causing infection and further complications, which can be fatal.
Infections that can result from a burst appendix include peritonitis, an inflammation of the lining of the abdomen, or an abscess.
Taking pain medications can potentially mask symptoms and delay treatment.
With prompt treatment, appendicitis is treatable, and recovery is normally fast and complete. With early surgery, the mortality rate is under 1%.
Without surgery or antibiotics, for example, in remote areas, the mortality rate can be 50% or higher.
If the appendix bursts, this can lead to complications, such as an abscess or peritonitis. Recovery may be lengthy in these cases. Older people may also take longer to recover.
The appendix is often considered a nonfunctioning organ, unnecessary for survival, but some scientists suggest that it may play a role in maintaining a healthy immune system.
The following are questions people frequently ask about appendicitis.
Can appendicitis resolve on its own?Appendicitis is typically considered a medical emergency. This is because it can cause the appendix to burst, which can lead to serious complications. Some mild cases of appendicitis may be treatable with antibiotics alone. However, surgery is generally the standard treatment for the condition.
How do you rule out appendicitis?Healthcare professionals will typically diagnose or rule out appendicitis using a person's medical history, a physical exam, and laboratory tests.
How long can you have appendicitis before knowing?Symptoms of appendicitis generally present within 24 hours of the onset of the condition.
The earliest symptom of appendicitis is usually abdominal pain. This often begins near the belly button and then spreads to the lower right part of the abdomen. The pain may be sudden and worsen over time.
Pressing on the area, moving around, coughing, and sneezing may all make the pain worse. Other symptoms may include fever, nausea, constipation or diarrhea, and swelling of the stomach.
Appendicitis is considered a medical emergency. If a person experiences sudden pain in their abdomen, they should contact a healthcare professional right away.
Read the article in Spanish.
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