Cavernoma UK

William Sears

Will’s Story

CAUK Young Person’s Ambassador Will Sears, who has multiple #cavernomas, has written a poem about his condition, what it’s like to live with a #raredisease and how CAUK have helped him throughout his journey.

A cavernoma is made up of abnormal blood vessels and can be found in the brain and/or spinal cord and looks like a raspberry. 1 person in 600, in the UK, has a brain cavernoma without symptoms (asymptomatic). This equates to roughly 90,000 people – enough to fill Wembley Stadium.

A spinal cavernoma is rarer than a brain cavernoma.

For more information about Cavernoma Alliance UK, please visit www.cavernoma.org.uk

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CATS Foundation

Amelie Lewi

Amelie Story: You can carry on or give up

Daniel and Patricia Lewi were worried about their 15-month-old daughter Amelie. She had begun crawling and babbling like any other child her age but abruptly stopped. Other than that, she had a healthy appetite and was “beautiful and absolutely perfect” to her parents. “We thought it very strange for a child not to do something once they had started, so we took her to the doctor,” says her father Daniel, now 39.

In 2011, Amelie was referred to the Lewis’ local hospital in South London on the suspicion that she had a brain tumour. Multiple tests were carried out, including one to examine the back of her eye for the presence of a cherry-red spot.

Then, two weeks later, a bombshell was dropped on the Lewis: Amelie had Tay-Sachs, a rare and progressive neurodegenerative disease affecting just one in every 320,000 Read the rest

Behcet’s UK

Laurens Behcet Story

Lauren’s story

Next in our ongoing ‘Your Behçet’s Stories’ series, we heard from Lauren who told us about how she was diagnosed with Behçet’s following a stroke, her love of playing hockey, her ambition to become a paramedic, and much more! Thank you very much to Lauren for sharing your story with us! If you’d like to take part in the series as well, the details are at the bottom of the page.

Lauren is 28 and lives with her fiancé in Essex, having recently moved from Surrey. She is a Student Paramedic and enjoys playing hockey and being as active as possible. She was diagnosed with Behçet’s in 2012 after having a stroke, but had symptoms from around the age of 11, as well as multiple unexplained hospital admissions throughout her childhood which now make sense.

WHEN AND HOW DID YOU GET DIAGNOSED WITH BEHÇET’S?

When I was younger, Read the rest

Thalassaemia UK

ROANNA’S STORY

ROANNA’S STORY

Receiving a diagnosis of a rare condition is a major life changing event for families. Often, the first-time people encounter the term “thalassaemia” is during pregnancy or after the birth of their precious baby. Like my parents and many families that I’ve had the pleasure of meeting over the years, the diagnosis of their child having beta thalassaemia major shattered the world they once thought they knew.

As a severe form of thalassaemia is inherited from both parents who usually carry the trait unknowingly, testing is only offered in England after a woman becomes pregnant; despite it being covered by the NHS at any point in someone’s life. If the mother was identified as being a carrier of the condition, only then would the biological father be offered an invitation to be screened. Following a positive result from the father or if the father is absent or declines, Read the rest

Nieman-Pick UK

Niemann Pick UK Entry

Amarii, 1 in 110,000

In many ways Amarii is a “normal” four year old boy; he always wears a cheeky smile, loves to play, and likes nothing more than playing dress up! But in reality Amarii has been diagnosed with the ultra-rare and devastating condition, Niemann-Pick disease type C (NP-C)…a condition often referred to as “Childhood Alzheimers” due to the severity of the symptoms that often accompany it.

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Texts cost £1 plus your standard rate message. You will be charged every Read the rest

A Dad’s tale

A Dad's Story - Best Storytelling by a Small Charity - Rare Reach Festival 2021

The Aplastic Anaemia Trust

When we were first told that Max had aplastic anaemia, my initial feeling was relief. Relief that we didn’t hear the word “Cancer” – in particular leukaemia. All the tests had been pointing towards that, and Leukaemia is the word that kept getting dropped into conversation prior to the bone marrow biopsy.

The doctor & nurse who broke the news to us were fantastic – when they told us it was aplastic anaemia they also made it clear the severity of the condition, what the condition actually is, the next step & treatments available.

Obviously myself and my partner, Rachel, had already had accepted it was leukaemia – and were readying ourselves to fight that. Getting the diagnoses of aplastic anaemia knocked us back, simply because we had never heard of it. Even when the Doctor told us what it was, we still had to take Read the rest