Mum's rare diagnosis after she started bleeding from her belly button
After having the contraceptive implant removed in 2020, the mum-of-two started bleeding from her belly button, with the bleeding getting heavier during each menstrual period, until she began to pass blood clots.
She also experienced symptoms such as swelling to her stomach, weight gain, extreme fatigue and pain.
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She said: 'I've always had erratic and extremely painful periods, not being able to get out of bed. That was just a normal period for me.
'When I got a flare up before my periods, I'd be lying on the bathroom floor with pain. I couldn't walk for a few days after.'
Prior to being referred to Liverpool's Women's Hospital, Bruinsma claims she experienced push back from doctors who told her that endometriosis is too rare to be the cause of her problems. She was instead, prescribed antibiotics and sent for a CT scan to understand her symptoms.
However, an MRI in 2022, showed umbilical endometriosis, a rare form of the disease affecting only 0.5-1% of women with the condition.
Endometriosis tissue had formed in a hernia 'sack' behind her belly button, with the cause of the hernia unknown. The 43-year-old has an appointment in May to discuss the surgical treatment required to remove the endometriosis tissue and repair the hernia, five years on from her initial GP appointment.
Endometriosis is a condition where tissue similar to the lining of the womb grows elsewhere in the body. Later stages of the condition can cause 'frozen pelvis, a condition where endometrial scar tissue joins pelvic organs together, causing them to lock in place.
Endometriosis affects one in ten women in the UK, with an average diagnosis of the condition taking over eight years from initial GP appointments for symptoms.
The mum was offered hormone replacement therapy to place her into an early menopause in an attempt to manage her symptoms while waiting for surgical treatment.
Ceri said: 'Don't let them convince you that these things are normal. A lot of people have been told that periods are meant to be painful. That's not true. You've got to become like a lawyer, with your case and the evidence, and show you've done the research.'
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Business Wire
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Prenatal Pesticide Exposure Alters Children's Brain Development, Impairing Motor Skills
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8 hours ago
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TikTok/mandaburritt/thelifeofemmabean These mutations can impact the nervous system, resulting in developmental delays such as the ones Burritt witnessed with her daughter Emma and a variety of neurological problems ranging from issues with vision to intellectual disability. Burritt was told her daughter's condition was "ultra rare," with around 600 cases diagnosed worldwide. There is no specified treatment or cure for KAND as symptoms can different greatly from patient to patient. However, those caring for someone with the condition can take steps to assist in areas of their school, work or social life. Emma is now 6, and Burritt says she has yet to make much in the way of "significant gains" in the years since that TikTok video was filmed. "Emma is blind, nonverbal, nonmobile, has little to no balance and very poor motor planning," Burritt said. "She is fully dependent on us for everything and requires 24/7 care." 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Through all of this, Burritt has never given up hope, buoyed in part Emma's smile and eternal sunshine spirit. "Over the years, she has spent hundreds and hundreds of hours working so hard fighting against this disease and, despite her challenges, she remains the happiest little girl," Burritt said. "She loves therapy and, for that, I'm grateful. Although the progress has been slow, it's still progress, and we are thankful she hasn't regressed. She has gained a lot of strength overall, and I'm beyond proud of her." Emma, now, aged 6, smiles outdoors. Emma, now, aged 6, smiles outdoors. TikTok/mandaburritt Burritt posts videos about Emma to TikTok and also Instagram, where her content is shared under the handle @thelifeofemmabean. In doing so, Burritt said she hopes to raise awareness about KAND and help other families get the treatment they need as soon as possible. "We recently attended the Kif1a conference in Boston and a huge factor in how small our Kif1a community is due to genetic testing not being accessible or available," Burritt said. "Emma's disease shares a lot of similarities to cerebral palsy, so lots of kids get misdiagnosed with that, prior to receiving their genetic testing. I think it's important for people to fight for genetic testing if there are no clear reasons their child has delays." Burritt would always encourage parents to "listen to your gut" when it comes to your own child's development. Doing so will allow them to get the help they need, she said, should they need it, as soon as possible.
