Health

Family rejoices after learning drug for daughter’s ‘childhood Alzheimer’s’ won’t be discontinued 

A Minnesota family is rejoicing after learning that a ‘miracle drug’ they say successfully treats their daughter’s ‘childhood Alzheimer’s’ will not be discontinued.

Emma Peterka, two, from  Minnetonka, suffers from condition known as Niemann-Pick disease type C (NPC),

It causes enlarged organs, lung damage, muscle stiffness, dementia and difficulty speaking, with sufferers rarely living past the age of 10.

Emma’s parents, Mitch and Sara, found hope in a drug called adrabetadex, which helped her regain some movement in her limbs and start communicating, WCCO reported.

Earlier this year, however, the company that produces the drug announced it would stop producing it in October, saying clinical trials showed no evidence that the drug worked.

That triggered a huge outcry from the Peterkas, as well as families of other children living with NPC.  

But, in a stroke of luck, another manufacturer has agreed to take over the drug – giving children like Emma a chance at even further improvement.

Emma Peterka, two, from Minnetonka, Minnesota, has been diagnosed with ‘childhood Alzheimer’s.’ Pictured: Emma (center) with her parents, Mitch and Sara

Known as NPC, the body is unable to metabolize cholesterol and lipids inside of cells causing enlarged organs, lung damage and the loss of speech and mobility. Pictured: Emma

Emma (pictured) was diagnosed after her parents realized she had fallen behind in her development

Known as NPC, the body is unable to metabolize cholesterol and lipids inside of cells causing enlarged organs, lung damage and the loss of speech and mobility. Emma (left and right) was diagnosed after her parents realized she had fallen behind in her development

In 2020, the Peterkas realized something wasn’t right with their daughter.

Emma had begun losing strength and the ability to move, her cries weren’t loud, and her milestones were delayed. 

Emma Peterka had fallen behind in her development – losing strength, her ability to move and communicate. 

After months of pursuing tests and doctors’ exams, they received a diagnosis in September: childhood Alzheimer’s, known formally as NPC.

NPC is a rare, progressive genetic disorder, which is characterized by an inability of the body to metabolize cholesterol and other fatty substances (lipids) inside of cells.

This causes enlarged organs, lung damage, and slow and steady neurological deterioration, in the form of dementia. 

The muscles will begin to stiffen to the point where patients are unable to walk.

Speech becomes more difficult until sufferers are unable to talk, or even breathe, before eventually succumbing to the disease.

Only 500 children in the world have been diagnosed and most children don’t live past age 10.

‘It was absolutely devastating,’ Emma’s mother, Sara, told WCCO.

Emma has been on a drug called adrabetadex, which helped her regain some movement in her limbs and start communicating. Pictured: Emma with her mother

Emma has been on a drug called adrabetadex, which helped her regain some movement in her limbs and start communicating. Pictured: Emma with her mother

In January, the company that makes the drug announced it would stop producing it after clinical trials showed no evidence the medication worked. Pictured: Emma (center) with her parents

In January, the company that makes the drug announced it would stop producing it after clinical trials showed no evidence the medication worked. Pictured: Emma (center) with her parents

‘We honestly weren’t sure what Christmas was going to be like because she had been deteriorating so much.’

After consulting with numerous doctors, one of them directed the family to Rush University in Chicago to be included in a medical trial for a drug called adrabetadex.

Made by Mallinckrodt Pharmaceuticals, the drug appears to stabilize children in decline and substantially halt NPC’s progression, something which seemed scientifically impossible only a few years ago.

Adrabetadexcan only be administered via spinal tap under anesthesia in a hospital every two weeks, indefinitely.

Emma’s parents say she drastically improved with the drug.  

‘She’s gotten stronger. She’s able to sit up on her own nice and straight,’ her father, Mitch, told WCCO. 

‘She’s giggling, she’s communicating, she’s making noises. It’s really exciting.’

Two weeks ago, another company said it would manufacture the drug for at least another two years. Pictured: Emma

Two weeks ago, another company said it would manufacture the drug for at least another two years. Pictured: Emma 

Emma's parents say the continuation of the drug allows their daughter to continue to include improving her communication and mobility. Pictured: Emma (right) with her parents

Emma’s parents say the continuation of the drug allows their daughter to continue to include improving her communication and mobility. Pictured: Emma (right) with her parents

However, in January, Mallinckrodt announced it would stop manufacturing the drug in October 2021 after a clinical trial showed no significant difference between NPC children taking the drug and those not doing so.   

However, according to WCCO, two weeks ago, the Mallinckrodt announced a new firm plans to take over production of adrabetadex. 

The new company plan to produce enough of the drug to last up to two years.

‘The kind of feeling that you just want to run outside and just scream at the top of your lungs with excitement,’ Mitch said. 

‘To go from not having any hope because it was ripped away from you, to suddenly having that hope restored was incredible.’

HOW TO SPOT NIEMANN PICK DISEASE TYPE C

Niemann-Pick Type C (NPC) is a disease where patients are unable to metabolize cholesterol and other lipids properly within their cells.

Excessive amounts of cholesterol then accumulate within the liver and spleen, and excessive amounts of other lipids accumulate in the brain.  

Signs and symptoms:

  • Vertical gaze palsy (the inability to move the eyes up and down)
  • Enlarged liver
  • Enlarged spleen
  • Jaundice in young children 

In most cases, neurological symptoms begin appearing between the ages of four and 10. 

Generally, the later that neurological symptoms begin, the slower the progression of the disease.

NPC causes enlarged organs, lung damage, and slow and steady neurological deterioration. Patients are eventually unable to walk, talk or even breathe. 

There are an estimated 500 cases diagnosed worldwide.

Doctors say there may be more, but that people confuse the disease with a learning disability or clumsiness.

There is currently no cure for NPC. Half of children die by age 10 and the majority will die before age 20.

A late onset of symptoms can lead to a longer life span, but it is extremely rare for any person with NPC to reach age 40.

Source: National Niemann-Pick Disease Foundation 

 

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