Girl suffers from rare disease AHC that paralyzes her at random

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Annabel Frost, two, of Washington, DC, was diagnosed with a rare, genetic disorder called Alternating hemiplegia of childhood in October 2017. Pictured: Annabel with her mother, Nina


Shortly after Annabel Frost was born in September 2015, her parents Nina and Simon knew something wasn’t right.

Her muscles would contract randomly, her eyes would make abnormal movements and she wasn’t hitting her developmental milestones.

They spent almost two years pursuing tests and doctors exams, but nothing could have prepared them for the news that their daughter has a rare, incurable genetic disorder.

The condition, Alternating hemiplegia of childhood (AHC), causes repeated episodes of paralysis on one side of the body and involuntary muscle contractions that can last for days.

The disease is so rare that Annabel is one of only 300 children in the US to have been diagnosed. In most cases, symptoms appear before 18 months of age.

Speaking to Daily Mail Online, Nina described their agonizing race against time to find treatment before the disease robs Annabel, now two, of her speech and mobility – and potentially kills her.

Annabel Frost, two, of Washington, DC, was diagnosed with a rare, genetic disorder called Alternating hemiplegia of childhood in October 2017. Pictured: Annabel with her mother, Nina

Annabel Frost, two, of Washington, DC, was diagnosed with a rare, genetic disorder called Alternating hemiplegia of childhood in October 2017. Pictured: Annabel with her mother, Nina

Alternating hemiplegia of childhood (AHC) causes repeated episodes of paralysis on one side of the body and involuntary muscle contractions that can last for days. The disease is so rare that Annabel is only of 300 children in the US diagnosed with it. Pictured: Annabel

Alternating hemiplegia of childhood (AHC) causes repeated episodes of paralysis on one side of the body and involuntary muscle contractions that can last for days. The disease is so rare that Annabel is only of 300 children in the US diagnosed with it. Pictured: Annabel

Alternating hemiplegia of childhood (AHC) causes repeated episodes of paralysis on one side of the body and involuntary muscle contractions that can last for days. The disease is so rare that Annabel is only of 300 children in the US diagnosed with it. Pictured: Annabel

Nina said her suspicions were confirmed that something was wrong with Annabel when she took the then-infant to their doctor in Washington, DC.

‘During her three-month-check-up. her eyes started making abnormal movements and the nurse ran to get the doctor because she thought Annabel was having a seizure,’ Nina said.

Doctors performed MRIs thinking that maybe Annabel had a brain tumor, but results were negative. She has EEGs performed due to fears of epilepsy, but those results were negative as well.

Still, Annabel was diagnosed epilepsy, a common misdiagnosis for AHC sufferers due to similarity in muscle spasms.

But the parents knew that their daughter did not have epilepsy. The anticonvulsant drugs she was given weren’t treating her symptoms and simply made her ‘groggy and withdrawn’. 

Over the course of 20 months they visited a number of specialists – seven different neurologists, a gastroenterologist, a geneticist, and a ear, nose and throat doctor – and ordered a battery of tests.

Meanwhile, Annabel’s symptoms grew more severe. Episodes would occur almost daily and she would become paralyzed on one side of her body.

After a full week of paralysis on her right side, Nina and Simon feared she had suffered a stroke but no test showed evidence that she had.

Over the course of 20 months they visited a number of specialists - seven different neurologists, a gastroenterologist, a geneticist, and a ear, nose and throat doctor - and ordered a battery of tests. Pictured: Annabel and her godmother 

Over the course of 20 months they visited a number of specialists - seven different neurologists, a gastroenterologist, a geneticist, and a ear, nose and throat doctor - and ordered a battery of tests. Pictured: Annabel and her godmother 

Over the course of 20 months they visited a number of specialists – seven different neurologists, a gastroenterologist, a geneticist, and a ear, nose and throat doctor – and ordered a battery of tests. Pictured: Annabel and her godmother 

Annabel was diagnosed with epilepsy,but the anticonvulsant drugs she was given weren't treating her symptoms and simply made her 'groggy and withdrawn'. Pictured: Annabel, right, and her sister Clara

Annabel was diagnosed with epilepsy,but the anticonvulsant drugs she was given weren't treating her symptoms and simply made her 'groggy and withdrawn'. Pictured: Annabel, right, and her sister Clara

Annabel was diagnosed with epilepsy,but the anticonvulsant drugs she was given weren’t treating her symptoms and simply made her ‘groggy and withdrawn’. Pictured: Annabel, right, and her sister Clara

Finally, after a neurologist at Boston Children's told Nina about the possibility of AHC, the family ordered a gene test and received their confirmed diagnosis in October 2017. Pictured, left to right: Simon, Annabel, Clara and Nina

Finally, after a neurologist at Boston Children's told Nina about the possibility of AHC, the family ordered a gene test and received their confirmed diagnosis in October 2017. Pictured, left to right: Simon, Annabel, Clara and Nina

Finally, after a neurologist at Boston Children’s told Nina about the possibility of AHC, the family ordered a gene test and received their confirmed diagnosis in October 2017. Pictured, left to right: Simon, Annabel, Clara and Nina

‘Finally, this great neurologist at Boston Children’s who we’ve seen many times called me in August and was like: “I’m at this conference and they’re discussing AHC. I don’t know if Annabel has it, but it seems similar”,’ Nina recalled.

‘So we googled it and were like: “Oh my god this must be it”. So we pushed for a genetic test.’

Finally, in October 2017, the Frosts received a diagnosis of Alternating hemiplegia of childhood (AHC).

WHAT IS ALTERNATING HEMIPLEGIA OF CHILDHOOD?

Alternating Hemiplegia of Childhood (AHC) is a rare neurological disorder in which repeated, but short-lasting, attacks of partial paralysis (hemiplegia) occur.

AHC usually affects only one side of the body, but sometimes it can affect both sides. 

Episodes can range from simple numbness in an extremity to full loss of feeling and movement.

An attack may last for minutes, hours, or even days, and can normally be relieved by sleep.

The incidence of AHC is estimated at roughly one in 1,000,000 births – only about 300 people in the US have been diagnosed.

Those affected don’t grow out of the disorder, but episodes may change and sometimes even decrease in frequency as a child gets older.

Signs and Symptoms: 

  • Lack of muscle tone
  • Stiffening of extremities
  • Lack of coordination when performing voluntary movements
  • Nystagmus (fast uncontrollable movements of the eyes that may be side to side, up and down, or rotary)
  • Eye disorders
  • Developmental delays
  • Seizures

In 2012, researchers identified the ATP1A3 gene as a leading cause of AHC – representing about 76 percent of those affected.

Currently there is no cure for AHC but researchers are working to identify drugs or drug-like compounds that are capable of restoring normal gene function.

The drug Flunarizine – an adjuvant of epilepsy therapy – has been shown to reduce the severity of paralytic episodes, but not necessarily the frequency.

Source: Alternating Hemiplegia of Childhood Foundation 

According to the National Institutes of Health, AHC is caused by mutations in the ATP1A3 gene.

This gene provides instructions for making part of a protein that is found in nerve cells. 

Sufferers experience repeated, but short-lasting, attacks of hemiplegia, or paralysis of a portion of the body.

It can range from simple numbness in an extremity to full loss of feeling and movement. An attack may last for minutes, hours, or even days, and sleep can normally relieve the symptoms.

Up to 50 percent of children with the disorder will develop seizures sometime during the course of their life.

While the condition is genetic, it is not degenerative – meaning those affected will not grow out of the disorder, but the AHC episodes may change and sometimes even decrease in frequency as a child gets older. 

In some cases, if the autonomic nervous system – which controls body functions such as breathing or the heartbeat – fails, AHC can cause sudden death.  

‘It’s so devastating to get this diagnosis because then you know how severe it is,’ said Nina.

‘And now what you need to worry about are there are kids who are 10 to 12 years old who will have a really bad episode and then never be able to walk or talk ever again.’ 

Since the diagnosis, there have been signs that Annabel’s symptoms are getting worse. 

The toddler will have an episode every three to four days similar to an epileptic seizure. 

Her left side of her face and right side of her body will be paralyzed for hours or days, her legs will lock up and she will have a reduced level of consciousness.

‘After bad episodes, she will often regress,’ Nina said. 

‘She learned to walk last September but then she was hospitalized for a week and lost the ability to walk until December. When she crawls, she’ll often fall over or she’ll have a hard time picking up Cheerios for a week.’

With every episode is the fear that her brain has been damaged. Children with AHC often suffer from cognitive problems and over time, their cognitive function usually declines. 

Even the medicines that Annabel takes haven’t been working as well.

‘She currently takes Klonopin (a drug that can treat seizures) and when we used to give the medicine to her, it would knock out her symptoms in 15 minutes,’ Nina said.

‘We give medicine to her now and her symptoms won’t last for days, but they will last the rest of the day until she goes to sleep.’

The family has set up a Facebook page to document Annabel’s journey as well as website called Hope for Annabel and a GoFundMe page where they are asking for donations to help fund research for a cure.

Since the diagnosis, there have been signs that Annabel's symptoms are getting worse. Pictured: Annabel

Since the diagnosis, there have been signs that Annabel's symptoms are getting worse. Pictured: Annabel

Annabel (pictured) will have an episode where the left side of her face and right side of her body will be paralyzed for hours or days

Annabel (pictured) will have an episode where the left side of her face and right side of her body will be paralyzed for hours or days

Since the diagnosis, there have been signs that Annabel’s symptoms are getting worse. Annabel (left and right) will have an episode where the left side of her face and right side of her body will be paralyzed for hours or days

The family is currently working towards raising money and awareness to help get a clinical trial started that will use gene therapy to hopefully cure Annabel (pictured) of this disease 

The family is currently working towards raising money and awareness to help get a clinical trial started that will use gene therapy to hopefully cure Annabel (pictured) of this disease 

The family is currently working towards raising money and awareness to help get a clinical trial started that will use gene therapy to hopefully cure Annabel (pictured) of this disease 

'When you have just 300 kids who have this, how do you get the scientific community to focus on curing this disease?' Nina said. Pictured, left to right: Clara and Annabel

'When you have just 300 kids who have this, how do you get the scientific community to focus on curing this disease?' Nina said. Pictured, left to right: Clara and Annabel

‘When you have just 300 kids who have this, how do you get the scientific community to focus on curing this disease?’ Nina said. Pictured, left to right: Clara and Annabel

Nina and Simon have gathered together a team of doctors and researchers who have agreed to help form a clinical trial using gene therapy. 

The gene therapy will involve inserting a functioning copy of the ATP1A3 gene into a virus that has been cleared of its harmful effects and can replicate itself.

The virus will be injected into the cerebrospinal fluid. The hope is that the multiple functioning copies of the gene can repair cells in the brain that have been damaged due to the disorder.

This therapy has been shown to be successful in mice embryos with AHC so scientists will need to test in live mice before Annabel can receive it.

Nina says they hope to raise $300,000 in the next year, and $4,000,000 over the next three years. So far, they’ve raised between $51,000 and $52,000.

‘When you have just 300 kids who have this, how do you get the scientific community to focus on curing this disease?’ Nina said. 

‘It was shocking for us to be in this position, to be where we are, and there’s this awful feeling of you won’t be able to cure it, you can’t treat it.

‘It’s terrifying to feel powerless but we’re doing all we can to hopefully find a cure.’

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