When Jaci Hermstad could barely lift her leg to get on her horse Bud in November last year, she knew that something was very wrong.
She tried not to over-react, but in the back of her mind memories of when her identical twin sister Alex battled a rare childhood version of the neurological disease ALS haunted her.
Jaci and her parents Lori and Jeff had been told that the chances of her developing Juvenile ALS at the age of 25 were virtually nil, yet every day it seemed she developed new symptoms.
On Valentine’s Day this year, against incredible odds, Jaci was told that eight years after she lost Alex, she does indeed have ALS – and it is a particularly aggressive form.
‘Until I got those first symptoms in November, I honestly never thought that I might develop ALS,’ Jaci, 25, from Spencer, Iowa, exclusively told DailyMail.com.
‘I did wonder if I could pass it onto my kids but never me. It still sometimes doesn’t feel real, that I will wake-up from my worst nightmare.
‘The thing is, I know what this disease does to a person. I watched Alex fight a battle she would never win. Now it’s me and the disease is developing fast. It is terrifying.’
Jaci Hermstad, 25, was told by doctors it was unlikely she would develop ALS after the devastating disease claimed her twin sister’s life eight years ago. But this year, she too was diagnosed, and the disease is moving very, very fast
Doctors say Jaci will likely lose the ability to breathe and speak independently within a month; the only experimental drug that could offer hope of stemming the disease will not be available for at least six weeks
Lori and Jeff, Jaci’s parents, are devastated, and have issued a desperate plea to the president to make the drug, ASO, available for Jaci to try before animal trials
Jaci and Alex were inseparable. In 2005, Alex was diagnosed with incredibly rare ALS
WHAT IS AMYOTROPHIC LATERAL SCLEROSIS?
ALS is an acronym for amyotrophic lateral sclerosis.
It is also referred to as motor neurone disease, or Lou Gehrig’s Disease after the US baseball player when he was diagnosed in 1939 at just 36 years old.
The disease is a rare condition that progressively damages parts of the nervous system.
It occurs when specialist nerve cells in the brain and spinal cord called motor neurones stop working properly – known as neurodegeneration.
Life expectancy for about half of those with the condition is three years from the start of symptoms.
However, some people may live for up to 10 years, and in rarer circumstances even longer.
The condition can affect adults of all ages, including teenagers, although this is extremely rare.
It’s usually diagnosed in people over 40, but most people with the condition first develop symptoms in their 60s. It affects slightly more men than women.
There’s currently no cure for motor neurone disease.
Treatment aims to make the person feel comfortable and have the best quality of life possible
It also tries to compensate for the progressive loss of bodily functions such as mobility, communication, swallowing and breathing.
ALS – more commonly known as Lou Gehrig’s Disease, after the famous American baseball player who died from it – targets brain cells called motor neurons that send messages from the brain to the muscles in the body.
As the motor neurons die, a person gradually loses the ability to walk, talk, speak, swallow and breathe, leaving them a prisoner in their own body. It is usually fatal within two to five years of diagnosis, although a few people live longer.
It is a considered a rare disease, but it is estimated that by 2025, one in 25 adults will be diagnosed. There is currently no cure and few effective treatments to slow down it’s progression to give the patient more time.
Juvenile ALS is extremely rare. In August last year, DailyMail.com exclusively reported on seven US mothers who lost their daughters to the disease, and had joined forces with non-profit Project ALS, to fight for more research and a cure.
Researchers there discovered that each of the daughters – except for one – tested positive for the FUS gene.
Studies have shown know that the FUS gene mutation is associated with one of the most aggressive forms of ALS in young people. It is a gene that contains proteins that at some point, start to misbehave and turn toxic.
Doctors don’t know why this happens in some people but when it does, it wreaks havoc and rapidly kills off motor neurons at lightning speed.
Lori Hermstad – one of the moms – shared Alex’s story with DailyMail.com and at the time, she said that doctors had told her that the chances of Jaci developing ALS were remote the older she got.
Alex – a keen softball player like her twin Jaci – was at a pitching clinic in March 2005 when she told Lori, now 53, and Jeff, 56, that she was having a hard time curling her arm.
It wasn’t until the following May when Lori could see how stiff her shoulder was, that she took her daughter to the doctor but still, the family wasn’t untowardly concerned.
‘Alex rarely moaned about her arm, but I could see something was going on so we had her checked out,’ said Lori. ‘At first doctors thought she might have a brain tumour.
‘It was horrible. Then, thankfully, that was ruled out and she was diagnosed with Guillain Barre Syndrome, a rare disorder where your body’s immune system attacks your nerves.
‘When she wasn’t getting better, a second doctor ordered more tests until finally, doctors discovered that her motor neurons were being destroyed.
‘We promised her we would do all we could to save her. We felt so lost but we continued to look for treatments and anything that would improve her quality of life.’
For Jaci, watching her sister getting sicker was devastating. As identical twins, they were exceptionally close, even having their own ‘language’ that only they understood.
‘I remember feeling so helpless,’ said Jaci. ‘She was my best friend first and my sister second. We knew what the other was thinking all the time and one minute we were playing softball together, the next she couldn’t throw the ball.
‘It was devastating because I couldn’t stop it – the only thing I could do was to be there for her and to support her as best I could.
‘We would do anything to block out the reality of what was happening, so we would go see our horses together, play games or I would just sit with her, reading or watching the TV. It was a comfort for both of us.
‘It never entered my head that I might be at risk of getting sick like Alex.’
As Lori watched her two girls deal with the realities of Alex’s illness, she also did not worry about Jaci developing the same disease as her sister, since for five and a half years, she was considered a bit of a medical mystery.
Alex was considered too young to have ALS, so doctors didn’t give a definitive diagnosis. It wasn’t until two months before her death that Juvenile ALS was confirmed when a genetic doctor discovered she was carrying the FUS gene.
‘It was a lot just dealing with Alex,’ said Lori. ‘Within two years of her first symptoms, she couldn’t speak so we developed a system where she would spell a word by smiling at a letter.
‘ALS is so demanding physically and mentally that while we worried all the time that Jaci was coping with seeing her sister getting sicker, it never occurred to me that Jaci would get sick too.’
For Jaci, horse-riding has always been a release. She and Alex focused on horses to distract themselves from Alex’s disease, and she would ride to get through her grief when Alex was gone. But it when she was trying to mount her horse, Bud (left), last fall that she realized her body was struggling. Months later, doctors confirmed she, too, had ALS
‘I remember feeling so helpless,’ said Jaci. ‘She was my best friend first and my sister second. We knew what the other was thinking all the time and one minute we were playing softball together, the next she couldn’t throw the ball’
‘It was devastating because I couldn’t stop it – the only thing I could do was to be there for her and to support her as best I could’
Alex passed away at 17 years old on Valentine’s Day 2011, six years after her symptoms began.
After Alex passed, it was only then that Lori began to worry about Jaci, even though she was at high school and she was doing well.
‘It just hit me hard that being Alex’s twin, Jaci might get sick too,’ said Lori. ‘I couldn’t get it out of my mind – the fear started.
‘Watching Alex suffer and then die from ALS was the hardest thing I’ve ever had to cope with. The thought of it happening to Jaci too filled me with a deep concern.’
An ALS researcher told her that the chances of Jaci developing ALS were remote and the family carried on, trying not to dwell on their fears.
Jaci went to university and got the job of her dreams as a cattle field marketer. Life was good until November last year, when she started to feel a pain in her ribs, as though they were out of line with her back.
She had several adjustments by a chiropractor, but nothing helped. She developed a numbness in both legs and feet – particularly on her right side – and struggled to get into her work truck.
But it was when she tried to mount her horse Bud and her leg felt so heavy she could barely lift it into the stirrup that she knew something was seriously wrong with her.
‘I immediately thought about ALS but I told myself it must be sciatica or something like that,’ said Jaci. ‘It was a concern but I told myself there was no way that lightning would strike twice.
‘Also, whatever was wrong wasn’t like when Alex got sick. She had no pain whereas my back hurt and my legs, so I just tried not to even go down the ALS road. I chose not to believe it.’
Lori and Jeff tried to keep their fears to a minimum too, but it wasn’t easy.
Jaci had been tested for FUS, a gene linked to ALS, shortly before Alex died, and again in October, as part of a research study, but she told doctors she did not want to know the results
‘I wanted to live my life to the full without the knowledge that one day, I might develop it – it would have haunted me and I didn’t want that,’ Jaci said
‘We both tried not to over-react but it was incredibly hard not to overthink things,’ said Lori.
‘We kept our faith and we kept on hoping that there was a simple explanation for Jaci’s symptoms, like some kind of an injury that could be repaired.’ But by Christmas, as Lori watched Jaci struggle to walk up the stairs from her mother’s basement, Lori knew in her heart that she had ALS.
‘I followed her into the basement,’ said Lori. ‘As I watched as she tried to climb the stairs back out, my heart sank and I could barely catch my breath – it was like watching Alex all over again.
‘That evening, when we got home, we all sat and cried because we knew – when you have seen those symptoms before you never forget them, particularly when it’s your child.
‘We knew that we had to be aggressive to get a diagnosis because ALS can take over so fast.’
Jaci went to see a neurologist and she was given an EMG (electromyography) test which measures how well your muscles respond to signals from the brain telling them to work. It is considered to be one of the most definitive tests for ALS.
On Valentine’s Day 2019, she was given the horrific news that she had Juvenile ALS. Jaci was told that she had tested positive for the FUS gene, the same defective gene that Alex had.
Jaci had been tested shortly before Alex died, and again in October, as part of a research study, but she told doctors she did not want to know the results.
‘The biggest thing for me was that I didn’t want to know whether I was carrying the gene because I didn’t want it to affect my life in a negative way,’ Jaci said.
‘I wanted to live my life to the full without the knowledge that one day, I might develop it – it would have haunted me and I didn’t want that.’
Lori, Jaci’s mom (right), said: ‘Losing my child Alex was something no mother should have to do and a big piece of my heart was forever broken. But now this! Jaci is our whole world’
It was believed that the older Jaci got, the less likely it was that she would develop Juvenile ALS since it strikes during the teenage years. (Because it is the same rogue FUS gene that is affecting Jaci as Alex, it is still called Juvenile ALS.)
Why it has taken all these years to develop, no one knows.
Sadly, Jaci’s ALS is progressing at speed. In October, she was riding her beloved Bud, holding down a full -time job she loved and enjoying her life with her friends and family.
Now she can barely move her arms and she’s in a wheelchair full time.
‘When I found out for sure it was ALS, I cried for days,’ said Jaci. ‘It was so unfair. How could I be diagnosed with the same disease that killed my sister but so many years later? It was very hard to process and I think I’m still trying.
‘The worst I think is that I know what is going to happen to me. I know one day I won’t be able to breathe on my own, that I won’t be able to eat and feed myself; that my speech will disappear.
‘I watched ALS take my sister piece by piece. I know the road is going to be so very hard and I also know that my body is changing very quickly. I am so frightened for what’s in store.’
As her parents, Lori and Jeff are beyond devastated.
‘Both Jeff and I try to stay strong for our Jaci but it’s almost impossible some days,’ said Lori.
‘Losing my child Alex was something no mother should have to do and a big piece of my heart was forever broken.
‘But now this! Jaci is our whole world. If it hadn’t been for her shining light I don’t know if we would ever have come to terms with losing Alex.
‘She’s my only child now and my very best friend in the world. I literally cannot fathom living my life without her.’
Jeff said: ‘Although it was always in the far back of my mind that Jaci might develop ALS, nothing can prepare you for it when it happens. It was a massive shock and we feel completely devastated.
‘Jaci has been amazing in her attitude to fight this disease and to keep a great, positive attitude. She is our inspiration to do everything we possibly can to get what needs to be done to keep her alive.
‘We know that there are no guarantees with this drug but we have to keep faith that it could be the answer. We will never give-up hope of saving our daughter.’
Jeff (right), said: ‘Although it was always in the far back of my mind that Jaci might develop ALS, nothing can prepare you for it when it happens. It was a massive shock and we feel completely devastated’
When Jaci was diagnosed, an ALS doctor the family already knew contacted them with a possible offer of hope and help.
A team of researchers, working on a new ALS drug, are keen for Jaci to try a new medicine that is being formulated specifically to target her defective FUS gene.
The experimental drug – known as ASO – was approved by the FDA on Wednesday – but first for animal trials.
The drug would be administered through the spinal fluid so it can travel to reach the body’s motor neurons. Researchers know that particular proteins are out of control and they are killing off the motor neurons – this medicine would hopefully silence the out of control proteins and halt the disease progression. Also, there is the hope that it might even restore some of Jaci’s motor neurons that are not as badly affected.
Lori is trying to raise $700,000 to pay for the testing and the manufacturing of the drug that is being designed specifically for her so that Jaci can take the drug as soon as possible.
It’s an uphill task, and Jaci’s community has stepped-up the fight to raise money, organizing all sorts of events to raise awareness and get the funds together to pay.
But will likely be six weeks before humans can try it – and doctors say Jaci will likely lose her ability to independently breathe and speak before then.
‘We can’t wait that long,’ Lori said.
‘By that time, we fear Jaci will be too far gone for it to be effective as this disease is so aggressive. Already her breathing is compromised – time is so important. The best case scenario would be if they could test it for a week to get the dose right and then give it to Jaci.
‘She is going to die anyway without it so we are appealing for this testing time to be shortened by as many weeks as possible. We have written to President Trump to ask for his help to intervene so that she gets it much faster. The quicker she gets ASO, the more chance we have of saving her life.
‘We are desperate. We would do anything to save our Jaci but we need help!
‘Although this drug is being made for Jaci, we believe that it could be a massive breakthrough for all ALS patients.’
Jaci, consumed by anxiety, is putting all her energy into fighting for the drug and staving off her memories of Alex’s ALS.
‘This disease is pure hell,’ Jaci said.
‘I don’t know if I’m going to wake-up one morning and something else has gone, like my speech.
‘I have to keep my faith that this could happen for me. The way the community has come together for me is truly comforting and it’s keeping me strong – without them behind me I don’t know if I would fight to hard.
‘I feel like I have been given this journey to be a voice for the ALS community and to honor my sister. This drug could save my life – my parents have already buried one daughter, they don’t need to bury another.’