Image captionAnya can sometimes lose developmental skills and have to re-learn them all over again
An Edinburgh mother has described her 18-month-old daughter as a "human timebomb" after being diagnosed with a one-in-a-million condition.
Anya Behl is one of only two Scots with the rare illness, with only 500 cases in the world.
Doctors describe it as being like having seven diseases all at once.
Katherine Behl said she wakes every morning not knowing if it will be a normal day or one where her child has a life-threatening episode.
'Thought she would die'
Anya was born in July 2017.
When she was just 10 weeks old, she had her first experience of Alternating Hemiplegia of Childhood (AHC).
The condition causes "episodes" similar to epileptic seizures, but also has symptoms similar to stroke, paralysis and Parkinson's disease.
The episodes can happen at any time.
Image captionKatherine Behl thought 10-week-old Anya was going to die during her terrifying first episode
Mrs Behl, a doctor, told BBC Scotland's The Nine that the first one was terrifying: "At ten weeks old life just stopped.
"She was in bed with us - she was loving tummy time in the mornings. Suddenly she did this terrible, really heart-wrenching scream.
"We turned her over and my husband said her eyes were twitching. I had a quick look at them and it was obvious something really bad was happening.
"Her eyes were just flickering to the side and rolling and she was looking really vacant. She started getting really rigid in her spine. I thought she was having a seizure.
"It lasted about three minutes. We were getting ready to go to hospital. Then it happened again in the house.
"On the way on the car it started again. She did a scream and I thought she was having a stroke.
"I thought she was going to die."
Image captionAbhishek and Katherine have decided to make the most of each day while they try to help fund research into treatments
What is AHC?
AHC is caused by mutations in the ATP1A3 gene.
Sufferers experience repeated, though short-lasting, attacks of hemiplegia - paralysis of a portion of the body.
This ranges from numbness to full loss of feeling and movement.
Attacks or episodes may last for minutes, hours, or even days. Sleep can relieve the symptoms.
If the autonomic nervous system - which controls body functions such as breathing or the heartbeat - fails, AHC can cause sudden death.
Neurological symptoms
Many more episodes and many tests followed at the Royal Hospital for Sick Children and in February 2018 Katherine and her husband Abhishek learned from genetics results that Anya had the one-in-a-million condition.
Mrs Behl explained: "It involves lots of neurological symptoms and some experts describe it as many conditions in one. It is not inherited it is just by chance.
"Along with neurological symptoms which can be tremors, weakness, paralysis, eye movements, speech problems, painful rigidity, it causes other non-neurological problems - breathing, heart and developmental problems."
'Enjoy each day'
Mr Behl says it is sometimes a case of one step forward, two steps back.
After each episode, some skills can be lost. Things she has learnt can be lost because of her condition.
Mrs Behl said: "Last May, she lost her head control, went floppy like a new born. She had to re-learn that all over again."
After spending months just waiting for the next episode to happen, the family decided they had to move on.
Mrs Behl said: "You can't live like that waiting for each episode to come so we just try to enjoy each day as it comes and we live in hope each day will go well.
Because the condition is so rare, there is little research and treatment.
The only drug she takes has so far been unable to stop the episodes.
The family are now fundraising to help pay for pre-clinical trials into the condition with the support of several AHC foundations in the US.
They hope this could mean a brighter future for their one-in-a-million girl.
Our one in a million daughter Anya on BBC Scotland at Nine. Sharing the video
Also attaching the JustGiving page link for people wanting to make a contribution.
Do leave a comment and have your say.
Thank you so much.
Anya Behl suffered a stroke-like attack when she was 10 weeks old
Doctors were baffled before diagnosing alternating hemiplegia of childhood
Only 500 families worldwide are coping with AHC which has no treatment
Researchers are hopeful to change lives with therapy in its first stages of trialling
It took four months for doctors to figure out what was wrong with Anya after her first stroke-like episode at ten weeks old which was 'terrifying' for her parents
The family of a toddler with a one-in-a-million condition that gives her episodes of paralysis are trying to raise money for groundbreaking research.
Anya Behl, who is 18 months old, was diagnosed with alternative hemiplegia of childhood (AHC), a neurological condition which can cause numbness or full loss of feeling and movement.
It took four months for doctors to figure out what was wrong with Anya's after her first stroke-like episode at ten weeks old.
Her parents, Abhishek and Katherine Behl, from Edinburgh, were terrified as her eyes flickered and she let out a 'terrible scream'.
Now, they live in fear an attack will strike at any moment, and won't leave Anya' side.
There are around 45 families in the UK and 500 worldwide coping with the rare condition, which has no effective treatment.
Anya has a gene called ATP1A3 which is identified as a leading cause of AHC and represents approximately 76 per cent of those affected
The family of 18-month-old Anya Behl, who has a one-in-a-million condition that gives her episodes of paralysis, are trying to raise money for groundbreaking research
Mrs Behl said: 'Despite starting 2019 with Anya in and out of paralysis, distress and a host of neurological symptoms, we now have real hope for advancements in AHC research.'
The couple's lives were changed forever in October 2017 when they rushed Anya - who looked like she was having a stroke - to the Royal Hospital for Sick Children.
Mrs Behl, a hospital doctor, said they thought their daughter 'was going to die'.
She said she knew what was going on medically - but as a mother, she felt 'helpless'.
After four months of tests and thinking that Anya was suffering from epilepsy, the couple were told her daughter had the ATP1A3 gene, which is responsible for around 76 per cent of AHC cases.
Anya is one of only two children in Scotland with the condition, and according to the Alternative Hemiplegia of Childhood Foundation, the incidence of AHC is estimated at roughly one in 1,000,000 births.
But they say the true incidence may be higher since the disorder is commonly misdiagnosed due to the 'lack of awareness' about AHC.
Mrs Behl said: 'When she's paralysed down one side, but not in her worst case, it's heartbreaking to see her try to crawl when she can't balance unable to move one side or support herself.
'Almost all children with AHC have physical, cognitive and developmental disabilities across a spectrum.
'By the age of two 50 per cent have epilepsy and there is much being discovered and investigated about the cardiac and other life-threatening aspects of this condition.'
Anya is watched by her parents 24/7, meaning Mr Behl had to quit his job
When an attack strikes, Anya can be paralysed down one side. She also has breathing difficulties
The AHC Foundation say there is no proof that the disorder limits life expectancy, but that children do appear more susceptible to complications such as aspiration, which can sometimes be life-threatening.
Abhishek and Katherine Behl, from Edinburgh, said there is a real hope for advancing treatment if the money can be raised for research in the US
In rare cases, children have died suddenly and unexpectedly, in circumstances similar to the sudden death reported in patients with epilepsy.
The couple is hoping to raise funds for a groundbreaking gene therapy project in the US for people with the ATP1A3 gene.
The funds would progress research towards a pre-clinical, non-human trial to be conducted with the support of several AHC foundations in the US.
The trial is essential before ethical approval can be sought with a view to testing the gene therapy in humans.
Mrs Behl said: 'Indeed, the prospect for AHC gene therapy is exciting scientists and families since it may bring real hope for a devastating condition.'
Mrs Behl said her Anya's condition has taken an emotional toll on the family, with her husband quitting his job as a travel consultant to look after Anya, who has breathing difficulties, full time.
She said: 'We just have to live truly in the moment and enjoy a good hour or good day or even enjoy her being able to eat breakfast without paralysis or distress rather than think of the whole picture.
'At first we used to get anxious waiting for the next episode to hit not knowing what might come. But we realised it wasn't sustainable to live like that.
'We are grateful for the moments she is well and her happy self and try not to focus on it changing in a second. We know how fragile life can be.'
Even days out with their young daughter involve stringent preparation in case a seizure takes place.
Mrs Behl, who said the condition effects everything they do, said: 'We don't leave home without her emergency medications.
'Our nappy bag includes her emergency medication and a paediatric face mask should we need to help support her airway if it affects her breathing.
'In 18 months at least one of us - my husband or I - have been with her 24/7 except for one hour when my mum looked after her and constantly watching her as her condition can change in a second.'
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.
This was the first report we were featured in and the reporter Kevan Christie took the interview a day before International Rare Disease Day. It created a lot of buzz and was featured on other sister papers that are owned by the Scotsman.
Scots toddler with one-in-a-million condition hoping for rare gene therapy
Kevan Christie
Katherine Behl with daughter Anya, who is 18 months, and father Abhishek. Picture: Lisa Ferguson
The family of an 18-month-old Scottish girl who has a condition so rare it only affects one person in a million are raising funds for a groundbreaking gene therapy project in the US.
Anya Behl suffered her first episode of what would later be diagnosed as alternating hemiplegia of childhood (AHC) at ten weeks old in October 2017.
Those with the lifelong condition are described as “human timebombs” as the illness – which is like having seven diseases at once, including stroke-like paralysis and symptoms of Parkinson’s disease – can strike at anytime.
Her parents Abhishek and Katherine told how everything stopped and their lives changed after their daughter let out a “terrible scream” as her eyes started to flicker during her first episode of the condition.
The couple, who live in Edinburgh, rushed Anya – who by this time looked like she was having a stroke – to the city’s Royal Hospital for Sick Children. Mrs Behl said they thought their daughter “was going to die” and that as a hospital doctor she knew what was going on medically – but as a mother she felt “helpless”. After four months of tests and a belief that she was suffering from epilepsy, Mrs Behl, was told Anya had the ATP1A3 gene responsible for around 80 per cent of AHC cases after being tested for rare diseases.
Anya is one of only two children in Scotland with the condition and there are around 45 families in the UK living with it and only 500 worldwide.
Mrs Behl detailed the emotional toll her daughter’s condition has taken on the couple, with her husband quitting his job as a travel consultant to look after Anya on a full time basis.
She said: “We just have to live truly in the moment and enjoy a good hour or good day or even enjoy her being able to eat breakfast without paralysis or distress rather than think of the whole picture. “At first we used to get anxious waiting for the next episode to hit not knowing what might come but we realised it wasn’t sustainable to live like that. “We are grateful for the moments she is well and her happy self and try not to focus on it changing in a second. “We know how fragile life can be.”
“We don’t leave home without her emergency medications. Our nappy bag includes her emergency meds and a paediatric face mask should we need to help support her airway if it affects her breathing. “When she’s paralysed down one side, but not in her worst case, it’s heartbreaking to see her try to crawl when she can’t balance, unable to move one side or support herself.
“In 18 months at least one of us (my husband or I) have been with her 24/7 – except for one hour when my mum looked after her – constantly watching her as her condition can change in a second.”
The couple have launched an “Anya is a One in a Million” fundraising campaign on their JustGiving page which has raised more than £5,000 of a £25,000 target to help fund a pre-clinical, non-human trial to be conducted with the support of several AHC foundations in the US.
The trial is essential before ethical approval can be sought with a view to testing the gene therapy in humans. Mrs Behl said: “Despite starting 2019 with Anya in and out of paralysis, distress and a host of neurological symptoms, we now have real hope for advancements in AHC research.” The link to the JustGiving page for Anya is https://www.justgiving.com/fundraising/anyab
We were interviewed by the Edinburgh Evening News where they highlighted Anya's rare medical condition. I have attached the report on this post. The Edinburgh Evening News report was written by Kevan Cristie
‘One in a million’ Edinburgh toddler set for rare disease trial in US
KEVAN CHRISTIE
Katherine Behl with her 18-month daughter, Anya, with dad Abhishek. Pic: Lisa Ferguson
The family of an 18-month-old toddler who has a condition so rare it only affects one person in a million are raising funds for a groundbreaking gene therapy project in the US.
Anya Behl, suffered her first episode of what would later be diagnosed as Alternating Hemiplegia of Childhood (AHC) at 10 weeks old in October 2017. Those with the lifelong condition are described as ‘human timebombs’ as the illness which is like having seven diseases at once - including stroke like paralysis and symptoms of Parkinson’s disease, can strike at anytime.
Her parents Abhishek and Katherine told how everything stopped and their lives changed after their daughter let out a “terrible scream” as her eyes started to flicker - during her first episode of the condition. The couple, who live in Orchard Brae, rushed Anya who by this time looked like she was having a stroke, to the Royal Hospital for Sick Children. Katherine said they thought their daughter “was going to die” and that as a hospital doctor she knew what was going on medically - but as a mother she felt “helpless”. After four months of tests and a belief that she was suffering from epilepsy, Katherine, was told Anya had the ATP1A3 gene responsible for around 80 per cent of AHC cases after being tested for rare diseases. Anya is one of only two children in Scotland with the condition and there are around 45 families in the UK living with it and only 500 worldwide.
Katherine detailed the emotional toll her daughter’s condition has taken on the couple with her husband quitting his job as a travel consultant to look after Anya on a full time basis.
She said: “We just have to live truly in the moment and enjoy a good hour or good day or even enjoy her being able to eat breakfast without paralysis or distress rather than think of the whole picture. At first we used to get anxious waiting for the next episode to hit not knowing what might come but we realised it wasn’t sustainable to live like that. “We are grateful for the moments she is well and her happy self and try not to focus on it changing in a second. “We know how fragile life can be.” She added: “It doesn’t ever leave you though and it influences every single thing we do.
“We don’t leave home without her emergency medications. “Our nappy bag includes her emergency meds and a paediatric face mask should we need to help support her airway if it affects her breathing. When she’s paralysed down one side, but not in her worst case, it’s heartbreaking to see her try to crawl when she can’t balance unable to move one side or support herself.
In 18 months at least one of us (my husband or I) have been with her 24/7 except for one hour when my mum looked after her and constantly watching her as her condition can change in a second.”
The couple have launched an ‘Anya is a One in a Million’ fundraising campaign on their JustGiving page which has raised over £5,000 of a £25,000 target to help fund a pre-clinical, non-human trial to be conducted with the support of several AHC foundations in the US. The trial is essential before ethical approval can be sought with a view to testing the gene therapy in humans.
Katherine said: “Despite starting 2019 with Anya in and out of paralysis, distress and a host of neurological symptoms, we now have real hope for advancements in AHC research.”
The link to the JustGiving page for Anya is https://www.justgiving.com/fundraising/anyab
Anya and our interview on the Scottish Daily Record Newspaper on International Rare Disease Day. The report was written by Paul Rodger,
------------
Anya Behl's parents Abhishek and Katherine say their lives changed forever when Anya let out a "terrible scream" as her eyes started to flicker - during her first episode of the rare condition.
By
Paul Rodger
Anya Behl suffers from the rare condition Alternating Hemiplegia of Childhood (Image: SWNS)
Anya Behl suffers from Alternating Hemiplegia of Childhood (AHC), a neurological condition which causes stroke-like paralysis. The family of a toddler with a rare condition which is said to affect one in a million people are raising funds for groundbreaking gene therapy in the US.
The 18-month-old tot experienced her first episode of AHC at 10 weeks old in October 2017 and those with the lifelong condition can be described as 'human timebombs'.
Her parents Abhishek and Katherine say their lives changed forever when Anya let out a "terrible scream" as her eyes started to flicker - during her first episode of the condition.
The couple, from Edinburgh , rushed Anya - who looked like she was having a stroke - to the Royal Hospital for Sick Children.
The condition is so rare it only affects one person in a million(Image: SWNS)
Katherine, a hospital doctor, said they thought their daughter "was going to die".
She said she knew what was going on medically - but as a mother, she felt "helpless".
After four months of tests and thinking that Anya was suffering from epilepsy, Katherine was told her daughter had the ATP1A3 gene.
The gene is responsible for around 80 per cent of AHC cases.
Anya is one of only two children in Scotland with the condition and there are around 45 families in the UK living with it and only 500 worldwide.
Katherine and Abhishek Behl from Edinburgh with their daughter Anya(Image: SWNS)
According to the Alternative Hemiplegia of Childhood Foundation, the incidence of AHC is estimated at roughly one in 1,000,000 births.
But they say the true incidence may be higher since the disorder is commonly misdiagnosed due to the "lack of awareness" about AHC.
Katherine said her daughter's condition has taken an emotional toll on the family, with her husband quitting his job as a travel consultant to look after Anya full time.
She said: "We just have to live truly in the moment and enjoy a good hour or good day or even enjoy her being able to eat breakfast without paralysis or distress rather than think of the whole picture.
"At first we used to get anxious waiting for the next episode to hit not knowing what might come but we realised it wasn't sustainable to live like that.
"We are grateful for the moments she is well and her happy self and try not to focus on it changing in a second.
"We know how fragile life can be."
She added: "It doesn't ever leave you though and it influences every single thing we do."
Even days out with their young daughter involve stringent preparation in case a seizure takes place.
Katherine said: "We don't leave home without her emergency medications.
"Our nappy bag includes her emergency meds and a paediatric face mask should we need to help support her airway if it affects her breathing.
"When she's paralysed down one side, but not in her worst case, it's heartbreaking to see her try to crawl when she can't balance unable to move one side or support herself.
"In 18 months at least one of us - my husband or I - have been with her 24/7 except for one hour when my mum looked after her and constantly watching her as her condition can change in a second."
Those with Alternating Hemiplegia of Childhood are described as human timebombs(Image: SWNS)
Now the couple is hoping to raise funds for a groundbreaking gene therapy project in the US.
The pair have launched an 'Anya is a One in a Million' fundraising campaign on their JustGiving page which has raised over £5,490 of a £25,000 target.
The money will go towards a pre-clinical, non-human trial to be conducted with the support of several AHC foundations in the US.
The trial is essential before ethical approval can be sought with a view to testing the gene therapy in humans.
Katherine said: "Despite starting 2019 with Anya in and out of paralysis, distress and a host of neurological symptoms, we now have real hope for advancements in AHC research."
