Winning over a rare swelling disease

Hope is a crane that lifts Patricia to share her story and inspire others.

Patricia Karani confidently speaks about a health condition that first became a worry when she was a girl about three decades ago. As a young girl, Patricia loved the outdoors. And the outdoors loved her back. She was very popular among peers as she would tackle the boys during a football game. However a simple incident during a game, turned her life around, literally.

“I was injured on my forehead and the random swellings began,” remembers Patricia.

She has a rare disease, hereditary angioedema, which makes her more prone to sporadic swellings. The diagnosis journey was confusing and discouraging making the last two and a half decades a bumpy ride.

When a doctor first described it as HAE, it was a source of relief. It can also be referred to as hereditary angioneurotic edema.

“I was more relaxed knowing that the cause of the sporadic swellings had a name. This began the journey of understanding better ways to deal with the condition. She has also learnt to predict the swellings and take precautionary measures,” said Patricia. Her father and brother also have condition.

The disease is categorized into Type I, Type II and Type III. Some of the most common swellings happen in the hands and feet and other patients will experience to recurrent abdominal pain. Patricia notes that the swellings can last about two to five days. Poor immunity can trigger a swelling attack. Some of the common causes of HAE include;

• Medicine
• Rare genetic fault
• No specific cause

Whereas most of the attacks have no obvious triggers, the following can cause swellings;

• Infected teeth
• Minor trauma or injuries
• Dental treatment
• Pregnancy
• Puberty and hormone changes
• Puberty
• H-pylori- a bacteria that can be present in the stomach
• Contraceptives containing oestrogen
• Physical or psychological stress
• Intubation for anaesthetics
• ACE inhibitors used to treat high blood pressure or heart conditions

Source: patient guideline booklet from UK

In search of better ways of managing the condition, Patricia is currently involved in creating awareness on Hereditary Angioedema where she shares her experience and networks to assist patients and their family and friends to deal with the condition better. “Misdiagnosis is common and in most cases, allergies is the most common explanation for the swellings,” Patricia noted.

According to Patricia, some of the benefits of joining Hereditary Angioedema Kenya include access to appropriate and relevant information, enrollment to support group sessions of persons with this condition and access to available treatment and medication. There is no known trigger for the first episode of the condition, however in some cases, minor trauma or stress may trigger an attack. Swellings of internal organs especially the intestinal tract can cause severe abdominal pain, nausea, and vomiting. Patricia has advice for friends, colleagues and family of a person who has HAE.

“Any swelling in the throat is an emergency,” says Patricia adding that having a social circle that understands the condition, is life-saving. Swellings can happen at any time however some incidents and experiences increase the chances that a swelling will take place. Patricia corroborates; “Stress or anxiety at work or socially can trigger swellings hence it is very critical that I listen to my body,” Patricia said.

For a HAE patient, swellings can also be triggered by infections like colds and flu. Physical activities need to be non-strenuous to prevent fatigue that can trigger swellings.

How can Patricia tell that she will get swellings? Some of the pointers include;

• Extreme fatigue
• Muscle ache
• Tingling
• Headache
• Belly pain
• Hoarseness
• Mood changes

The frequency and duration of the swellings varies from one person to another, even among relatives.

Patricia says that due to the lack of awareness of this condition, including among the health workers, the diagnosis treatment and management is not streamlined hence most of the cases are at an advanced stage before they are eventually well managed. The number of persons with the condition in Kenya is also unknown due to the lack of a central repository. The most life-threatening aspect of the condition is a throat swelling that could lead to death due to obstruction of the person’s airway.

Whereas there is no cure for this rare disease is, Patricia is on preventive drugs to keep the swellings away. However the Patricia adds that there is need for more comprehensive awareness among the doctors so they can have a high suspicion index to diagnose the condition earlier and manage the disease better.

The genetic link

If a parent has this rare disease, there is a 50 per cent possibility of passing it one to the children. Her dad also has this rare condition and so does her brother who is currently in the United States of America.

“Since we got this diagnosis, we have formed a support mechanism and we compare notes on the condition hence it’s not as difficult to manage it compared to the earlier days when the swellings were unexplained,” said Patricia. According to Patricia, the treatment involves giving medicines that replace the missing protein, C1.

In some cases, there is no history of the condition in the family line and when a new mutation in the gene occurs, it marks the beginning of the sporadic swellings. The condition can also be pre-diagnosed through a genetic test that helps determine a person’s chance of developing or passing on a genetic disorder. However this kind of tests are prohibitive due to their costs. Patricia concludes that the best way of managing the condition is to avoid the triggers that set off the swellings.

And she is keeping hope alive.

“We need to encourage more people to speak out. I am dedicated to ensure that we have access to information to treat and manage angioedema better so that we can lead a normal and productive lifestyle, “concluded Patricia.

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