How Amera still enjoys life despite shadow of rare illness
CONDITION WAS SPOTTED WHEN SHE BEGAN FALLING OVER
THE mother of a young Derby girl battling a rare life-limiting condition has spoken about the unique difficulties her daughter has to face.
Six-year-old Amera Adeyemo, from Chaddesden, became one of only around 110 people in the UK to live with Niemann-Pick (NPC) after being diagnosed with the disease in August.
This incredibly rare, inherited illness affects the body’s ability to deal with cholesterol within cells and has led to a build-up of fat around Amera’s vital organs, including her brain, liver and kidney.
Over time it has weakened her walking skills, leaving her reliant upon a walker and her wheelchair, and will soon rob her of her ability to talk and swallow.
Amera’s mother, Jessica, said the news of her daughter’s diagnosis was hard to take.
“It was quite a shocking thing to hear, especially because it’s such a rare thing,” she said.
“We’d initially been going through an autism diagnosis to begin with, then we had a video phone call with a physio who picked up on her unusual walk. She kept falling over during this video call.
“We had an MRI scan, which came back clear. We then went on to have some blood tests, which again came back clear, so the doctor asked if we could do some genetic tests.
“And that’s when we found out that she was diagnosed with Niemann-Pick type C. It just came completely out of the blue,” said jessica, a retired former HR manager for Sainsbury’s.
Amera has continued to enjoy life “completely oblivious” to the challenges of NPC, having fun and making the most of each day like every other six-year-old.
Yet as things stand there is no cure for the disease, which can cause the progressive loss of the function of nerves, the brain and other organs.
Already, Amera is struggling to talk and suffers from leg and hand
tremors, and there is very little research into managing the symptoms of the illness.
Jessica said: “Because of a lack of awareness of NPC there is no cure and very little in the way of treatment. It is so rare that it is almost unheard of and any work on the disease is fully funded by donations.”
For this reason, Jessica is hoping to raise the profile of NPUK, a charity dedicated to providing practical and emotional support to NPC victims and expanding research into potential therapies for the disease.
With Rare Disease Day taking place on Sunday, Jessica felt it was the right time to tell her daughter’s story and shine a light on the vital work of the charity in battling this relatively unknown illness.
She said NPUK had been an important source of advice and comfort during an extremely testing period.
“They provide such great support and help to children and families going through NPC,” said Jessica.
“With more awareness and funds we might be able to find a cure sooner, as well as better treatments for dealing with the symptoms of the disease.
“I just want to make sure that there is progress against the illness and hopefully help those who might have to also deal with it in the future.”
You can donate to NPUK by visiting its website or texting NPUK02 followed by the amount you would like to donate to 70070.
Because of a lack of awareness of NPC there is no cure and very little in the way of treatment. Mum Jessica