Finding Comfort and Power in Numbers, the Birth of HAE Australasia.
Katherine Wilkinson’s Story of the ASCIA hosted Patient Meeting in 2011
Everyone talks about the importance of people with rare conditions knowing that they’re not the only one affected by the disease.
Cindy lives on a cattle station five hours north of Cairns and is trying to get better at managing her stress.
Chris is a retired fireman from Brisbane who used to throw up in buckets on his way to fires.
Louise is an accountant from Narre Warren who can’t take her medication because she is trying to start a family.
Liz, from Melbourne, chose to use donor eggs when she and her partner decided to start a family.
It’s a Saturday morning in late March 2011 and 20 strangers, Louise, Cindy, Chris and Liz among them, have come together in Sydney to set up an Australian Patients Group for sufferers of Hereditary Angioedema (HAE).
Statistics suggest that between 1 in 50,000 and 1 in 150,000 people have HAE worldwide, so in Australia there could be as many as, or rather as few as, 480 people with HAE.
The Australian Society of Clinical Immunology and Allergy (ASCIA) defines hereditary angioedema as a rare, autosomal dominant condition, characterized by recurrent episodes of swelling lasting between 48-72 hours.
Roughly 85 per cent of patients have HAE Type 1 which is the result of low levels of C1 inhibitor (C1-INH). Roughly 15 per cent have normal levels of C1-INH, but the inhibitor is dysfunctional, this is Type 2 HAE. There is a third type of HAE but this is extremely rare and not well understood.
During an attack, the deficiency of C1-INH or its malfunction thins out a patient’s cell walls allowing fluid to escape into areas it shouldn’t be, causing parts of the body to swell.
Most people with HAE will experience swelling in their feet, hands, back, trunk, also the gastrointestinal tract, causing extreme abdominal pain, vomiting and can lead to patients going into shock.
Around the room people are exchanging war stories. Rob and Cindy are comparing notes on how long it takes from the first sign of laryngeal swelling before they are in trouble.
Statistics from the US suggest that 50 per cent of patients will have at least one episode of swelling in the larynx (the upper airways) in their lifetime. This compromises the airway and is the reason this rare condition is life threatening.
I am at the meeting with my mother who had a series of swelling episodes throughout her life. At the age of 47 a series of attacks in close succession eventually led to HAE being diagnosed; on average it takes between 13 and 21 years for a diagnosis.
Head of ASCIA’s working party on HAE, Prof. Connie Katelaris says that the greatest problem in diagnosing HAE is doctors thinking of it.
“Once you think of making the diagnosis, the screening test is readily accessible,” she said.
After my mother was diagnosed she remembered that during her childhood her mother used to take to her bed every two months or so with her ‘stomach pains’; my grandfather used to say that my mother and her siblings had tired her out.
When my grandmother was pregnant she had her face swell on multiple occasions but has not had an attack for many years now.
“The doctors didn’t know what it was, they prescribed antihistamine so they must have thought it was allergies,” she recalls.
Thanks to my mother’s diagnosis, well into her 70s, my grandmother was tested and confirmed to have HAE.
Cindy Hughes and her mother had a similar experience.
“For about 10 years [my mother] was backwards and forwards to doctors who couldn’t come up with a diagnosis,” she said.
When Cindy was seven she had her first attack, the similarities between her condition and her mothers helped the doctors to get a diagnosis.
It is an autosomal dominant condition so children of parents with HAE have a 50 per cent chance of inheriting it. I tested negative for the gene in 2008. Everyone I meet at the meeting congratulates me for missing the gene.
The condition affects everyone differently, some people have attacks once a year, once a month, once a fortnight, or not at all.
My uncle was tested recently and confirmed to have HAE, but at 58 he has never had an attack. His daughter however has had numerous attacks.
Cindy has two sons who were both tested for the gene at a young age, both carry the gene but have not had any attacks.
More than 50 per cent of patients have their first attack before the age of 10 and those who have their first attack before the age of five will generally have twice the number of attacks per year (30 on average) than someone whose first attack occurred after the age of 15.
There are certain triggers that have been linked to attacks like stress, estrogen, contraceptive pills, high blood-pressure medication, traumas and surgery.
Cindy is not currently on any preventative treatment but instead has been working on improving how she manages stress because that is a trigger for her attacks.
“For me if I can keep stress levels to a minimum, keep a positive attitude and not let things get to me then you know I don’t have attacks very often, they get less and less frequent,” she said.
Cindy’s attacks affect mostly the abdomen, her hands, back or feet will swell every two months or so, and she has laryngeal attacks roughly once a year.
“As I’ve gotten older [the attacks are] getting closer and closer together so it varies from once a month to once a week,” she said.
The attacks are becoming too regular and are affecting Cindy’s quality of life so she is seeing a specialist to look at starting a preventative treatment such as Danazol, or preferably Tranexamic acid.
Tranexamic acid is not as affective as Danazol but it does not have as many adverse side effects like weight gain, serum cholesterol increase, hypertension… it’s a long list.
The problem with Danazol is that it works. A recent study showed that despite 79 per cent of patients experiencing adverse side-affects from the treatment, only 25 per cent stopped taking it.
Over 70 per cent of patients taking Danazol experience a 90 per cent reduction in frequency of attacks, and a 95 per cent reduction in frequency of laryngeal attacks.
Louise Ridout, the patients representative of the group, calls Danazol her “magic pill, unfortunately”.
With a great grandfather, grandfather and father who all had HAE, Louise was tested at three days old and confirmed to have low levels of C1 inhibitor.
Throughout primary school she had abdominal swelling, when she reached her early teens, the hormones kicked in and her hands, feet and face started to swell. When she was 18 she had her first laryngeal attack.
“I’ve had one [laryngeal attack] every year pretty much since, but only one which is pretty good because I know a lot of other people get throat or face swelling on a regular basis,” she said, “I’m probably quite lucky in that respect”.
She was put on Danazol because she was having attacks every fortnight, but she developed liver adenomas because of the treatment. They eventually ruptured so she had half of her liver removed and went off the Danazol.
Four months later Louise went back on Danazol at a lower dose because no other treatment worked at reducing the frequency of her attacks.
Louise’s story is one that should be shared among both patients and doctors to reinforce the importance of monitoring side effects of medication.
“If they are going to be on medication you really have to monitor the side effects,” she said.
For Louise and other members, dissemination of information is an important role that the Patients Group will perform.
“It’s quite scary going into an Emergency and they’re googling [HAE] in front of you, you’re like ‘my throat’s closing over and you’re on the Internet?’” said Louise.
Cindy lives five hour’s drive from Cairns so when she has a laryngeal attack the Flying Doctor Service will come and get her and take her to Cairns for treatment.
“I’ve had a few experiences where you go to the hospital and they’ve just got no idea what you’re taking about and you’re not guaranteed of getting the right treatment,” she said.
One of the services the Patients Group will provide is a kit or letter to show doctors during an attack because sometimes they don’t listen to patients.
According to Louise, patients do come across doctors who don’t know about HAE so a key role of the Patients Group is to inform doctors about the disease and its treatments.
During the meeting Cindy learnt that fresh frozen plasma, which was her treatment plan for laryngeal attacks, had been superseded by other treatments like Berinert P or Icatibant.
Fresh frozen plasma carries a risk of blood-borne infection and has also been suggested to worsen the severity of attacks in instances, so using an alternative is preferable.
“I guess it sort of would have come about eventually but I don’t know how long they’ve been using [Berinert P] down south for,” she said.
“A lot of people don’t know what they could possibly do to help relieve their symptoms so [the Patients Group] just wants to create a lot more information sharing between patients and physicians,” said Louise.
Prof. Katelaris, one of the speakers at the meeting, thinks that one of the key roles of the Patients Group is to lobby public bodies to improve access to treatments.
“In other countries such as Germany and England, they are now using Berinert, what we call, on demand… We have been more restrictive because we don’t have reimbursement,” she said.
Berinert is a C1-INH concentrate so it replaces the missing or dysfunctional C1-INH protein, strengthening the cell walls and stopping the swelling.
To receive Berinert in Australia patients need to meet strict criteria. It is mainly used for patients whose airways are swelling, who are pregnant or before surgeries like tonsil removals that have a high risk of setting off an attack.
Berinert was register in January 2010 but has not been put on the Pharmaceutical Benefits Scheme (PBS) so it is not government subsidized so each vial costs $AUD 1,700.
In Europe patients who are prone to frequent or dangerous attacks are being trained to self-administer Berinert and other C1-INH concentrates at home.
A recent study of patients has shown that patients’ quality of life has significantly improved from self-administering C1-INH.
This is not available in Australia as yet but has been demonstrated to be feasible and valuable for those, like Cindy, who live in remote areas.
The main function of the Patients Group is to provide support for people affected by HAE.
“It is really important for people with rare diseases not to feel isolated and alone,” said Prof. Katelaris.
“There might be people in Australia that have angioedema but don’t know anyone else with is and so it could be quite scary for them to go through life without having any sort of support,” said Louise.
Facebook has many critics, but it is an excellent tool for HAE patients to link up with each other across the globe.
There are multiple groups and pages dedicated to HAE on Facebook where patients can ask questions, share stories and see proof that others do have the condition.
“It gives people a bit of a level of comfort just knowing they’re not alone,” said Louise.
“I think so it’s a great way of chatting and just openly talking about it,” said Cindy.
Going onto the Facebook page for the International Patients Group, HAEi, you can read messages from HAE patients looking to meet others who live close by, and messages from people like Laura Bridges from the UK.
Laura posted: “Good morning to all of us HAE guys and girls out there, how has your day began? Mine has started with both of my feet swollen to the point I can’t walk, along with my left hand so swollen looks like a trip to A&E to have another wedding ring cut off, I really should try to make a note to take my rings off at night, Now I’ve started with tummy cramps so looks like a stomach swelling as well. I’ve done my infusion with C1 as prescribed; 2,500 when its a bad attack, 1,500 every other day, so laying in bed on what looks to be a lovely day, take care and have fun xxxxxxxxx”.
One of the goals of the Australian Patients Group is to set up a Facebook page for Australians with HAE.
As the meeting progresses you can see how eager everyone is to create the Patients Group to help improve the quality of life for themselves and others, and to make sure that people with hereditary angioedema, though rare, will no longer have to feel that way.