Susan's story
In 2012, my brother Andrew became very unwell. Slowly over time he had several vague ailments that individually did not set off any alarm bells. Unfortunately, he passed away and we were left without any answers. His postmortem showed a myriad of anomalies that could not be clearly explained. Within six months we had news from the UK that one of our cousins had just been diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT) after being unwell for 15 years.
After some research the pieces of the puzzle fitted. In 2014 genetic testing was done and we finally had our answer. I, my other brother, my eldest daughter and granddaughter all have the gene. My other two children, fortunately, do not.
As this rare genetic disease manifests itself so differently in each individual, and to a wide variation of degrees, it is kind of hard to pin down. Being vascular and causing malformation of the blood vessels it can cause bleeding from all vital organs, pulmonary hypertension, the spine, mucous membranes and make one susceptible to infection which can lead to catastrophic consequences, such as brain abscess, septicaemia and death. My mother passed away in 2018 due to HHT-related conditions.
Frequent nosebleeds that can last up to an hour, migraine, nausea from swallowing blood, shortness of breath, and a sense of general unwellness is a daily companion. This can impact negatively on one’s work life. Being a caregiver and having a gushing bleeder can be inconvenient, and also just out and about in general, driving is tricky, as pulling over is the only option unless I want to arrive at work, my son’s school or supermarket, looking like I have just eaten someone for breakfast. Being late can be a problem as well. I have recently just had my first Iron infusion due to the bleeding noses, which may or may not need to be a regular thing. There are no rules around this illness. You can go without any symptoms for years, then it can take you out in a matter of hours. My cousin in the UK spends weeks unable to do anything due to sheer exhaustion.
No treatment centres are here in New Zealand, and upon arriving at a hospital for any medical support, nearly every staff member has NO IDEA what they are dealing with. This makes getting any appropriate treatment very difficult and errors in care can be made, exasperating the condition leading to a patient passing. Admittedly unknowingly to the staff member. That is why the medical profession need to be made more aware of this illness, so that other families do not have to lose the people they love, instead of fobbing it off, or putting it in the ‘too hard’ basket.
Many people may have this condition undiagnosed and may have diminished quality of life, or pass prematurely due to lack of knowledge. No celebrity has come forward with HHT, maybe if someone did it would gain more attention and support, which is sad really, as everyone’s life is valuable.