Both My Girls Have ‘Alzheimer’s’

Pam and her fam­ily are de­ter­mined to fight this dev­as­tat­ing ill­ness

Pick Me Up! - - CONTENTS - Pam An­drews, 45, Austin, Texas

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

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