How our beautiful baby girl has been struck down by ALZHEIMER’S
At 7 months, her tiny memory is already failing. Now her family must race against relentless march of this cruellest of conditions
IT is an illness generally associated with the elderly and infirm.
So when young parents Jack McMillan and Kayla Strachan were told their baby daughter had Alzheimer’s, they hoped there had been a terrible mistake.
But last week doctors confirmed their worst fears – seven-month-old Bonnie is suffering from a rare genetic form of the disease that could mean she will not see her fifth birthday.
She is the only baby in Scotland to be diagnosed with Niemann-Pick Type C (NPC), also known as childhood Alzheimer’s, and is unlikely to ever learn to walk or talk as her memory starts to fade.
Tragically, she is already forgetting how to swallow, letting her food dribble out of her mouth when she is fed.
Now Bonnie’s family, from Motherwell, Lanarkshire, have launched a fundraising appeal in an attempt to send the infant to the United States for a pioneering treatment not available in the UK.
Miss Strachan, 20, told The Scottish Mail on Sunday: ‘When we found out it was called childhood Alzheimer’s we couldn’t believe it. We thought it was just for old people and not a wee baby like Bonnie.
‘We were so upset when we got the results and were told the life expectancy. We had never heard of this happening to a child, let alone an infant, before. The younger they are, the less of a life expectancy they are given, and Bonnie is the youngest in Scotland to be diagnosed.
‘You expect to have kids and for them to all be healthy and happy, and this was a huge shock for our whole family.’
The mother of three added: ‘There is no known cure at the moment and no clinical trials in the UK for children under two, so we are determined to get Bonnie to the US while there is still time.
‘If Bonnie does get accepted for trials in America, the chances are we will need to move to Chicago as she will need treatment every two weeks, at least until she is two.
‘We will need to get health insurance, which will push costs through the roof, as well as paying for travel and for relocating there.
‘We are just a young family and can’t afford it by ourselves.’
Cradled in her mother’s arms and smiling at the camera, Bonnie looks like any other normal, happy baby.
But inside, her tiny body and mind are already starting to deteriorate.
Bonnie suffered from jaundice soon after she was born at Wishaw General Hospital in March, but medics did not view it as a cause for concern. Yet as the months progressed, her parents noticed she was not meeting the same milestones as her three-year-old twin brothers, Dylan and Lucas.
Suspecting that Bonnie might be suffering from colic, Miss Strachan took her to the GP, who was concerned that the baby had a swollen abdomen.
Miss Strachan recalls: ‘I had noticed Bonnie was slower with developing than the boys and mentioned it to the health visitor. The twins were rolling when they were four months old and sitting at seven months.
‘But I was told there was still time – that was before they diagnosed her.’
Now when Bonnie attempts to sit up she is not able to do so. Her mother said: ‘I don’t like to think of her as forgetting things, because we are trying to remain positive, but we have been warned that it happens.’
Bonnie has always had an distended abdomen and doctors say her liver and spleen are larger than they should be. Initially they thought it could be down to glandular fever, which makes the organs bigger than usual.
Then they sent her for an MRI scan at Glasgow’s Royal Hospital for Children.
‘When they saw her, her oxygen was low and they sent her to the respiratory and cardiology departments as well as the gastroenterology department,’ said Miss Strachan. ‘After five weeks, they managed to diagnose what was wrong. I was crying in the hospital and I just wanted to know if there was anything that could be done to help.
‘I kept thinking there must be a cure or something to help us. It was overwhelming, and I waited until I got home to tell my mum and grandparents, rather than call them with the news.
‘Jack couldn’t even come in the car when I went round to my mum and grandparents. He was just so numb.’
At first Miss Strachan did not tell her 16-year-old brother and 13-year-old sister because she did not want them to go online searching websites to find out about Bonnie’s condition.
‘I wanted to have time to digest it without putting devastation into their life,’ she explained.
‘Bonnie’s speech is likely to become slurred and without treatment her memory will go, as a result of fatty substances accumulating in the spleen, liver, lungs, bone marrow and brain. But we
‘This was a huge shock for our whole family’
have taken the decision to stay positive and think, “We’ve got her just now, and we are going to make the most of what we’ve got”. We know wee Bonnie can fight this. She is going to make history. We always hugged our wee Bonnie Biscuit, but she is even more precious now, and we hug her that bit tighter.’
Scotland only has six reported cases of NPC – which affects just one in 120,000 babies – and Bonnie is the youngest ever diagnosed. Determined that she would give her daughter the best chance, Miss Strachan started researching treatment for the condition, which is passed on if both parents carry the faulty gene. She discovered a clinic in the US which is carrying out ongoing drug trials, including the treatment known as VTS270, which appears to be the best chance for Bonnie.
Miss Strachan said: ‘It is given via a lumbar puncture once or twice a month, which takes a drug called cyclodextrin straight through the central nervous system.
‘I have spoken with the doctor who pioneered the treatment and he has offered to do all the blood work free of charge.
‘I have been speaking to families every day hearing how good their stories are.
‘I heard how one lady was unable to walk or talk and she is now able to go back to work as a result of the trial. We just need to get Bonnie out there.’
Donations can be made via the Gofundme fundraising page set up by Bonnie’s family at https://www.gofundme.com/bonnies-fightagainst-npcd