Both My Girls Have ‘Alzheimer’s’
Pam and her family are determined to fight this devastating illness
Children grow up so quickly, it’s important to treasure the memories. Their first steps, first words, first day of school…
For me, those moments are even more precious because, one day, my daughters Belle, now 7, and Abigail, 3, won’t remember them.
In fact, they may not even remember who I am.
They both have a rare disease called Niemann-pick Type C1 – or ‘childhood Alzheimer’s’. And it could rob them of their memories and mobility before they reach their teens.
Search for a cause
When Belle was born in March 2010, a doctor told me and my husband Chris, 46, ‘She’s got an enlarged spleen.’
They ran various tests, but they all came back clear.
We were told it was probably nothing to worry about. So Chris and I put it to the back of our minds.
Back home, Belle was like any other baby – crawling, then toddling – and, before we knew it, chatting away.
But when she was 3½, I noticed she was tripping and falling over a lot.
‘Whoops-a-daisy,’ I’d say, picking her back up.
But it was more than just the odd little tumble. She’d fall over many times a day.
And she seemed to develop a tremor in her hands.
‘Something’s not right,’ I told Chris.
A doctor ordered various tests, which ruled out a whole host of conditions and diseases, but didn’t pinpoint a cause. Frustrating. ‘I just want to know what’s wrong with my daughter,’ I’d cry to doctors.
Over the years, we took Belle to see a number of paediatric specialists, neurologists, haematologists, genetic specialists…
Meanwhile, in June 2014, I gave birth to Abigail.
Belle absolutely doted on her, and loved being a big sister.
But, instead of enjoying life as a happy family of four, we were still back and forth with Belle to different doctors.
Then, in 2015, a doctor became concerned about her enlarged spleen.
And, eventually, Belle was referred for genetic testing.
It took nearly a year to get the results. And, when we finally got a diagnosis, it was a devastating blow…
‘Belle has Niemann-pick C1,’ a doctor confirmed in March last year, explaining that it’s a rare disease that’s also known as childhood Alzheimer’s.
‘The condition causes cholesterol to build up in the brain, spleen and liver until it reaches toxic levels,’ he added.
It results in intellectual decline, memory loss and mobility problems.
I felt devastated. How could our lovely, vibrant daughter be suffering from a disease usually associated with old people?
It just seemed so cruel. And the worst was yet to come…
‘There’s no known cure,’ the doctor went on. ‘‘Most patients
Belle was tripping and falling, and had a tremor in her hands
don’t make it to adulthood.’ It felt like a knife to my heart. My poor Belle was just 5 – her life had barely begun. Now she was being robbed of her future. And there was nothing Chris or I could do about it.
A second blow
It turned out we were both silent carriers of the recessive genes that cause the disease. It was rotten luck that Belle had inherited those genes from both of us. Then doctors wanted to test Abigail, 21 months, too. ‘Lightning won’t strike twice, surely?’ I fretted to Chris. But a week on, we were
told, ‘I’m afraid Abigail has the disease, too.’ I felt my whole world crumbling around me.
‘Take your girls home and make every moment count,’ the doctor advised.
But I felt crushed, distraught. And my head was spinning with questions.
Chris and I had to do something.
‘We can’t let this condition take our girls,’ Chris said.
So we researched online, found a specialist in Chicago who was running a clinical trial to try to slow the progression of the disease.
We got in touch and, after meeting her, she agreed our girls could take part.
Belle and Abigail began having a drug injected into their spines every two weeks.
‘Why do me and Abby need medicine?’ Belle asked.
‘Because doctors are trying to make you better,’ I told her.
It’s still early days, but Chris and I are remaining hopeful.
Abigail is yet to display any symptoms. Belle’s condition, on the other hand, deteriorated rapidly before treatment began. She can’t walk unassisted, and has slurred speech.
But, since starting the trial, she seems more stable and is improving, not tripping and falling over any more, which is a positive sign.
We’re holding out hope the condition doesn’t worsen.
Doctors told us the girls would lose their memories and ability to walk before their teens. But we can’t bring ourselves to think about that. The day the girls forget who we are will rip out our hearts.
All we can do is take each day at a time, and enjoy every precious second with our beautiful girls.
OUR SWEET GIRLS... The day they forget who we are will rip out our hearts
Treatment seems to be helping Belle