Sarah and Emily Bushaway are the youngest sisters ever to be diagnosed with a Niemann-pick disease which has affected around 700 individuals all over the world.
Their parents, Mark and Lisa Bushaway, watched their two healthy girls that were diagnosed with childhood dementia got worse physically and mentally.
The schoolgirl was diagnosed with Niemann-pick disease type C (NP-C) when she was just six years of age - a disease that is not common and has affected only 700 individuals all over the world.
After seven years, the family experienced this same devastating condition when Emily’s younger sister, Sarah manifested some signs of this same genetic disorder.
These two girls are the youngest siblings in history to be diagnosed with the disease, which can lead to dementia along with other ravaging symptoms
The girl, eight years of age as at then, was left with no skin after a terrible reaction that was allergic to her skin due to a vaccination she received during her childhood days. Her skin fell off when her mum touched her.
Mark and Lisa grew old, and they grew to be full-time carers for their two daughters. They were not able to write, talk or even walk.
Lisa said; “it is one of the dreadful diseases I have ever seen, it such a harsh disease.” It took so much from us.
The Bushaways are all out, creating awareness about the rare disease which came as a result of the death of Emily at the age of 21.
Her sister now has a reduced life expectancy at the age of 19.
Lucy’s family was derailed of the disease so much that even her faith in God has been blown apart.
“I used to believe and had faith, but with my two kids experiencing this disease, I stopped believing’, Lisa said.
Of course, if it is just one of them, you can cope with it, after all, they have been sent by God for you to take care of, but the two of them? That is just too harsh.”
Emily was just in primary school when she started experiencing the symptoms. The symptoms include muscle seizure, difficulty in speaking, loss of balance, confusion and memory loss.
Lisa, also working as a babysitter then was also sent home from school because her behavior changed
She said “Emily became awkward and also agitated at school
She would always look so upset; she would always fall over while with friends and look as if a usual school day had upset her
She would keep repeating words like “I wanna party” and “I would have to say words for like three times before she understands” Lisa narrated.
We felt like she was losing ground, she could not appropriately feed herself, and she would come back from school with her mouth covered with food. “Everything was not just right.”
When the worried couple looked for a medical solution, they were told that their daughter had ADHD, which can be the reason behind her ailment.
However, a neurologist conducted series of tests at the London’s Great Ormond Street Hospital, and Emily was diagnosed with NP-C in springtime during the year 2001.
The Bushaways’s family was left in shambles, Harry was nine then, and Sarah was three years of age.
Both Mark and Lisa possess the gene that carries the rare neurodegenerative disease, making it a one out of four probabilities of their children contracting the disease.
Lisa added that they were not aware that they were carriers of the disease and they were told that the chances of Emily living beyond her teenage days are slim.
As a parent, it was so depressing to hear the news that our kid would keep deteriorating to the point that she would die untimely.
We were so sober and cried all day for Emily, for all the things she would be deprived of – her mates, boyfriends, husbands and so on.
“It was so difficult for us.” Our life changed beyond recognition.
“we tried giving our children the best childhood they could ever live, and during these times, we changed house three times.”
Mark, who was a warehouse worker, and Lisa turned to full-time carers for Emily when she was unable to move, talk or walk anymore.
Even though Harry, their Son grew pretty well as a child of his age, as Sarah grew up, symptoms similar to that of her elder sister started surfacing.
It was believed by her teachers that it could be dyslexia, while her parents arranged for NP-C tests in a bid to avoid similar incidents that have happened earlier.
The memories of the 10-year-old girl, Sarah, was still as fresh as ever. Sarah left the family home with their dog Bow, only to be found by Mark standing by the side of a major road, confused.
“like Emily, she labored a lot in class often needing support many times,” Lisa said. Mark replied turning to me saying “we need to know.”
“Down in our minds, we knew she had it. Probably that is why when Sarah was diagnosed eventually in 2008 at Great Ormond Street Clinic, I was not shocked”.
Just like her sister, her(Sarah) ailment soon worsened, making her have irregular behavior changes and also leaving her in disarray.
As her condition worsened, she disappeared during a family trip to Southend when she was 11and was found alone on a rollercoaster.
Sarah would just make inappropriate outbursts at outsiders, “You have got a big leg” at a man with arthritis an example of what she did one time.
Her parents had no choice but to erect a fence 5ft tall around the house to hinder Sarah from getting out as her behavior became more and more erratic as the condition worsened. Also, a small gate was installed at the top of the stairs to prevent her from falling down the stairs.
At age 17, when her mates were applying for colleges and dating, Sarah could neither talk nor walk and only conveyed messages out through her iPad.
She totally wasn’t able to write her own name just last month.
Mark and Lisa would leave notes around which would say; “My name is Sarah,” and “I love pop music,” just because she could not talk.
They suffered from terrible seizures both girls and needed care 24/7 from their parents.
Their parents were so concerned about their well-being that they provided one on one round the clock care for them without any assistance until 2013 when they finally got the help of care givers.
Heartbreakingly, at the end of a five day in Oxford at Helen and Douglas House Hospital, Emily passed.
Lisa and Mark had re-decorated their rooms in colors which were their favorite spending days preparing for their homecoming constantly calling them, but sadly Emily passed during the respite stay in Oxford.
Enquires into Emily’s demise revealed just last month how she was unable to breathe after a nurse made a mistake of discarding an important part of her breathing tube.
The nurse, Katie Philips conceded that the unintentionally took away the “whisper” valve which got rid of Emily’s carbon dioxide build up.
Her dad Mark found her unconscious and she was proclaimed dead in a little while.
Oxfordshire coroner Darren Salter said Emily’s “accidental death was due to neglect” during the recording of a narrative verdict.
The Buahaways of Letchworth Garden City, Hertfordshire are now thinking of taking the hospital to court for the alleged negligence with the help of their lawyers at Slater and Gordon.
“We fully respect and concede to the findings of the coroner’s ruling,” said a spokesman for the hospital.
“Measures have been taken to ensure this scenario would not occur anymore.”
There have been no arrests made concerning Emily’s death claimed the Thames Valley police and any criminal proceedings had been ruled out by the crown prosecution service.
Evidence from Emily’s case is presently being reviewed by the CQC.
“when Emily died, a part of me went with her. We miss her every day, and we are so shattered by her loss. No one should have to bury their child” Lisa said.
Fortunately, having Sarah gives me a reason to get up each day. We are not certain of what the future holds but we know the present time we have with her is special.
We want to create awareness for the disease thereby continuing Emily’s legacy.