A 43-year-old woman has baffled doctors after being diagnosed with five rare medical conditions and admits she spends "a lot of time" between laboratories and hospitals for appointments.
Alexandra Bucille, from Versailles, France was first hospitalised as a child because of chronic pain throughout her body, and in her teenage years, it became unbearable. Following years of testing, Alexandra has finally been diagnosed with endometriosis, Thoracic Outlet syndrome, May-thurner syndrome, Nutcracker Syndrome and AVF — a rare combination of illnesses that's shocked medics.
"I can no longer exercise due to chronic fatigue and pain. It's very difficult for me to stand or even sit for a long time, at the moment," she said.
The 43-year-old said she's "suffered in silence" for so long because doctors didn't know what to do, and she wants to shine a light on invisible disabilities such as those she's faced with.
What are the rare medical conditions?
Endometriosis - a disease in which tissue similar to the lining of the uterus grows outside the uterus. It can cause severe pain in the pelvis and make it harder to get pregnant.
Thoracic outlet syndrome (TOS) - a group of disorders that occur when blood vessels or nerves in the space between your collarbone and your first rib (thoracic outlet) are compressed. This can cause shoulder and neck pain and numbness in your fingers.
May-Thurner syndrome - a rare vascular condition that affects a vein in your pelvis. It occurs when a nearby artery compresses the left iliac vein. This vein brings blood from your pelvis and legs back up to your heart. The compression prevents blood from flowing properly, leading to narrowing and scarring.
Nutcracker syndrome - a rare vein compression disorder. It occurs when arteries, most often the abdomen's aorta and superior mesenteric artery, squeeze the left renal (kidney) vein. It can cause many symptoms in both children and adults, such as flank pain and blood in the urine.
An arteriovenous fistula (AVF) - an abnormal connection between an artery and a vein. When there is a fistula in the brain, we call it an arteriovenous malformation (AVM). When a fistula occurs near the dura (the covering material of the brain), it is a dural arteriovenous fistula.
Woman's plan to raise awareness for rare conditions
Living with a multitude of rare conditions has made life difficult for Alexandra who insists she's had enough surgery for ten people.
Most recently she had to have an autotransplantation of her left kidney as her renal vein was compressed as a result of her Nutcracker Syndrome. She'd also had two stents in her iliac vein — which supplies the pelvic region and reproductive organs with blood — due to her May-Thurner Syndrome. "These are vascular compressions," she said.
Alexandra wants to raise awareness for her rare genetic conditions which many consider invisible disabilities — such as migraines and endometriosis.
"I suffer the gaze of people who do not understand this permanent daily struggle,” she said. "The strength it requires to fight against the disease and to do it with a smile because I often say we do not choose but it is up to us to face it by choosing to make it a strength".
"The more we talk about it, the more we inform, the further the research progresses, the less alone we are," she added.
Media Drum World/australscope
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