Growing up (from around 5 or 6 years) I had weekly bleeding noses that would last 30 minutes to 2 hours; breathless on any form or exercise, constantly low in iron and suffered chronic fatigue and constipation, and I developed migraines at 17 years of age (all of which are still on going issues). Luckily my bleeding noses were under control after being operated on at the age of 20. I had endometriosis in my twenties and polyps on one of my ovaries and had a hysterectomy at the age of 39 due to severe blood clots and bleeding.
BUT It wasnt until December 2015 that I was diagnosed with Hereditary hemorrhagic telangiectasia (HHT). With no one in my family ever having being diagnosed, it came about after I fell off my horse and ended up in the ED at Wellington Hospital.
A Doctor who had been to a rare disorders seminar on HHT two days before I was admitted noticed the red vessel dots on my lips, on my tongue and in my mouth as well as red veins around my nose. He asked me a few health questions about my childhood then ordered MRI and CT scans to unofficially diagnose me as having HHT, and which showed symptoms of HHT. i.e I had an aneurysm on my brain and shunts in my lungs.
I then had coiling and stents put in my brain and shunts coiled in my lungs in 2016. I am now on Aspirin for life to prevent the aneurysm from returning. And due to having polyps in my colon that were discovered 2018 (approx) I have regular colonoscopy and endoscopy screening to remove polyps bigger than 2mm (as these can potentially turn into cancer if left to grow).
In 2019 I was found to have colon cancer which was successfully removed and chemo treatment thereafter. In 2020-2023 I have had to have 3 abdominal hernias repaired through open surgery due to having no core muscles and strength (about to undergo another open surgery to repair yet another hernia).
July 2022 I collapsed after experiencing heart attack symptoms and was taken to Wellington ED. A blood test result came back as ‘Can't rule out blood clots’ but the CT and scans showed I appeared normal. My heart and lungs physically tell me otherwise and the imaging staff aren't trained in HHT so dont know what they are looking for exactly. So I was sent home anxious and stressed knowing my grandfather died of a heart attack at the age 49.
The few times I have collapsed due to iron levels being so low, its been incredibly stressful trying to get iron infusions when my levels haven't been at a low enough level on paper due to the funding requirements. However HHT sufferers have less iron stores and less oxygen in the body so NEED iron and blood transfusions when levels are low in order to survive, so I go home unable to properly function in my daily life, ie cook shower etc.
In January 2023, only 24 hours after my 3rd hernia repair open surgery I became unconscious and needed to be resuscitated and then needed 2.6 metres of dead colon removed from my abdomen. (One doctor thinks this was from the HHT causing blood clots after surgeries upon surgeries that then die from lack for oxygen.)
I'm also under a lung-heart specialist at Wellington Hospital and have yearly tests to monitor my low oxygen level that drop to 80% when I'm out walking; this also causes breathlessness and chest pain at times.
I suffer daily with headaches, low blood pressure, dizziness if I stand up too quickly, and bad blood circulation with a blood temperature that doesn't regulate. I now have developed intolerance to paracetamol and Panadol and cant take some anti-inflammatory medications due to the polyps in my colon as the nature of HHT is a risk of causing bleeds.
I have also developed PTSD due to the response from the medical staff I get when suggesting my symptoms could be HHT-related and feeling like they don't believe me (as a result of NZ medical staff not being educated).
I can no longer work so am on an MSD benefit due to my chronic fatigue and fibromyalgia, which stops me also from being able to clean my house, mow the lawns or gardening as I get breathless, weak and sore muscles after 15 mins of doing these things. Cleaning my house puts me in bed for the next few days.
My physio believes I have hypomotility condition that is believed to be possibly associated with HHT. I also have insomnia and sleep apnea and restless legs and arms that can be incredible painful to the point it keeps me awake til the early hours.
After some of my operations I've had to have blood transfusions and iron infusion due to blood levels becoming incredibly low after surgery.
I'm one of approx 1:3,000 worldwide people including New Zealanders with this disease that has no cure. A lot of sufferers are misdiagnosed and/or don't know they have it due to lack of knowledge in the medical sector. It a genetic disease, affects ALL the organs in the human body, and is a serious life-threatening condition if left untreated and unmonitored (heart attacks, strokes, eternal bleeding, brain bleeds).