Woman, 25, was diagnosed with ALS eight years after the disease and killed her twin sister and has six weeks
When Jaci Hermstad was barely able to lift her leg in November last year to get on her horse Bud, she knew something was very wrong.
She tried not to overreact, but remembered that her identical twin sister Alex was battling a rare childhood version of the neurological disease that haunted her.
Jaci and her parents Lori and Jeff had been told that the chances of developing Juvenile ALS at age 25 were close to zero, but it seemed to develop new symptoms every day.
On Valentine’s Day this year, against incredible expectations, Jaci was told that indeed eight years after she lost Alex, she does indeed have ALS – and it’s a particularly aggressive form.
“Until I had those first symptoms in November, I honestly never thought I’d develop ALS,” Jaci, 25, of Spencer, Iowa, told DailyMail.com exclusively.
“I was wondering if I could pass it on to my kids, but never to me. Sometimes it still doesn’t really feel like waking up to my worst nightmare.
“The point is, I know what this disease does to a person. I saw Alex fighting in a battle she would never win. Now it is me and the disease is developing quickly. It is terrifying. “
Jaci Hermstad, 25, was told by doctors that she was unlikely to develop ALS after the devastating illness claimed the life of her twin sister eight years ago. But this year she too was diagnosed and the disease is progressing very quickly
Doctors say Jaci is likely to lose the ability to breathe and speak independently within a month; the only experimental drug that could offer hope to fight the disease will not be available for at least six weeks
Jaci’s parents, Lori and Jeff, are devastated and have made a desperate request to the President to make the drug, ASO, available for Jaci to try before animal testing
Jaci and Alex were inseparable. In 2005, Alex was diagnosed with incredibly rare ALS
ALS – better known as Lou Gehrig’s disease, after the famous American baseball player who died of 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 a prisoner in their own bodies. It is usually fatal within two to five years of diagnosis, although a few people live longer.
It is considered a rare disease, but it is estimated that one in 25 adults will be diagnosed by 2025. There is currently no cure and few effective treatments to slow progression to give the patient more time.
Juvenile ALS is extremely rare. In August last year, DailyMail.com exclusively reported on seven American mothers who lost their daughters to the disease and joined forces with the non-profit Project ALS to fight for more research and healing.
Researchers there found that all but one of the daughters tested positive for the FUS gene.
Studies have shown 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 will misbehave and become toxic at some point.
Doctors don’t know why this happens to some people, but if it does, it causes major damage and kills motor neurons quickly at lightning speed.
Lori Hermstad – one of the mothers – shared Alex’s story with DailyMail.com and at the time said doctors had told her that the chances Jaci developed ALS were the older she became.
Alex – an avid softball player like her twin brother 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 May, when Lori could see how stiff her shoulder was, she took her daughter to the doctor, but the family wasn’t overly concerned.
“Alex seldom groaned on her arm, but I could see something was going on, so we let her check out,” Lori said. Initially, doctors thought she might have a brain tumor.
‘It was horrible. Fortunately, that was excluded and she was diagnosed with Guillain-Barre syndrome, a rare condition in which your body’s immune system attacks your nerves.
When she didn’t get better, a second doctor ordered more tests until the doctors finally discovered that her motor neurons were being destroyed.
“We promised her that we would do everything we could to save her. We felt so lost, but continued to look for treatments and anything that would improve her quality of life. “
It was terrible for Jaci to see how her sister got sicker. As identical twins, they were exceptionally close, and even had their own “language” that only they understood.
“I remember feeling so helpless,” said Jaci. “She was my best friend first and then my sister. All the time we knew what the other was thinking and one moment we played softball together, the next moment she couldn’t throw the ball.
“It was terrible because I couldn’t stop it – all I could do was be there for her and support her as best I could.
“We would do everything we could to block the reality of what was happening, so we went to our horses together, played games or sat with her, read or watched TV. It was a comfort to both of us.
“It never occurred to me that I risked getting sick like Alex.”
While Lori watched her two girls deal with the reality of Alex’s disease, she was also not concerned that Jaci would have the same illness as her sister, as she was considered a kind of medical mystery for five and a half years.
Alex was considered too young to have ALS, so doctors did not make a definitive diagnosis. Juvenile ALS was only confirmed two months before her death when a genetic doctor discovered she was carrying the FUS gene.
“It was a lot about Alex,” said Lori. “She was unable to speak within two years of her first symptoms, so we developed a system where she would spell a word by smiling at a letter.
“ALS is so physically and mentally demanding that while we were all the time worried about Jaci seeing her sister get sicker, it never occurred to me that Jaci would get sick, too.”
Horse riding has always been a release for Jaci. She and Alex concentrated on horses to distract themselves from Alex’s disease, and she rode to get through her grief when Alex was gone. But when she tried to mount her horse, Bud (left) last fall, she realized her body was struggling. Months later, doctors confirmed that she also had ALS
“I remember feeling so helpless,” said Jaci. “She was my best friend first and then my sister. All the time we knew what the other was thinking and one moment we played softball together, the next moment she couldn’t throw the ball ‘
“It was terrible because I couldn’t stop it – all I could do was to be there for her and support her the best I could.”
Alex died on Valentine’s Day 2011 at the age of 17, six years after her symptoms started.
After Alex died, Lori only started to worry about Jaci even though she was in high school and she was fine.
“I just noticed that as Alex’s twin sister, Jaci could also get sick,” said Lori. “I couldn’t get it out of my head – the fear started.
“Seeing Alex suffer and then die of ALS was the hardest thing I’ve ever faced. The thought that it happened to Jaci also worried me. “
An ALS researcher told her that the chance that Jaci developed ALS was small and that the family would go on and try not to reflect on their fears.
Jaci went to college and got the job of her dreams as a livestock market vendor. Life was good until November last year, when she started to feel pain in her ribs, as if they were out of alignment with her back.
She had several adjustments by a chiropractor, but nothing helped. She got numbness in both legs and feet – especially on her right – and struggled to get into her work cart.
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 of ALS, but I told myself it’s sciatica or something,” said Jaci. “It was a concern, but I told myself lightning wouldn’t strike twice.
“Whatever was going on was not like when Alex got sick. She was not in pain while my back and legs hurt, so I just didn’t even try to go down the ALS way. I chose not to believe it. “
Lori and Jeff also tried to keep their fears to a minimum, but it was not easy.
Jaci had been tested for FUS, a gene related to ALS, shortly before Alex died and again in October, as part of a study, but she told doctors she didn’t want to know the results
“I wanted to live my life to the fullest without knowing that one day I could develop it – it would haunt me and I didn’t want to,” said Jaci
“We both tried not to overreact, but it was incredibly difficult not to think too much,” said Lori.
“We maintained our confidence and hoped there was a simple explanation for Jaci’s symptoms, such as an injury that could be repaired.” But at Christmas, when Lori watched Jaci struggle to climb the stairs from her mother’s basement, Lori knew in her heart that she had ALS.
“I followed her into the basement,” Lori said. “As I watched as she tried to climb the stairs out again, my heart sank and I could barely catch my breath – it was like seeing Alex all over again.
“That night, when we got home, we were all crying because we knew – if you’ve seen those symptoms before you never forget them, especially if it’s your child.
“We knew we had to be aggressive to get a diagnosis because ALS can take over so quickly.”
Jaci went to a neurologist, and she was given an EMG (electromyography) test that measures how well your muscles respond to signals from the brain telling them to work. It is considered one of the most definitive tests for ALS.
On Valentine’s Day 2019, she got the horrifying news that she had Juvenile ALS. Jaci was told 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 study, but she told doctors she didn’t want to know the results.
“Most important to me, I didn’t want to know if I was carrying the gene because I didn’t want it to affect my life in a negative way,” said Jaci.
“I wanted to live my life to the fullest without knowing that someday I could develop it – it would haunt me and I didn’t want to.”
Lori, Jaci’s mother (right), said, “Losing my child Alex was something no mother should do and a big chunk of my heart was broken forever. But now this! Jaci is our whole world ‘
The older Jaci was believed to get the less likely she was to develop Juvenile ALS because it strikes during the teenage years. (Since it’s the same deceptive FUS gene that strikes Jaci as Alex, it’s still called Juvenile ALS.)
No one knows why it took all these years to develop.
Unfortunately, Jaci’s ALS is making rapid progress. In October, she rode her beloved Bud, held a full-time job that she loved, and enjoyed her life with her friends and family.
Now she can barely move her arms and is in a wheelchair full time.
“When I was 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 difficult to process and I think I’m still trying.
“The worst thing is that I know what will happen to me. I know that one day I will not be able to breathe independently, that I will not be able to eat and feed myself; that my speech will disappear.
“I saw ALS take my sister bit by bit. I know the road will be so difficult and I also know that my body changes very quickly. I am so afraid of what lies ahead. “
As her parents, Lori and Jeff are more than broken.
“Both Jeff and I are trying to stay strong for our Jaci, but it’s almost impossible some days,” said Lori.
“Losing my child Alex was something no mom should do and a big chunk of my heart was broken forever.
“But now this! Jaci is our whole world. If it wasn’t for her radiant light, I don’t know if we would have ever agreed to lose Alex.
“She is now my only child and my very best friend in the world. I literally cannot fathom my life without her. “
Jeff said, “While it was always in the back of my mind that Jaci would develop ALS, nothing can prepare you for it to happen. It was a huge shock and we feel completely devastated.
Jaci has been great in her attitude in fighting this disease and maintaining a great positive attitude. She is our inspiration to do everything to do what needs to be done to keep her alive.
“We know there are no guarantees with this drug, but we must continue to believe that it could be the answer. We will never give up hope of saving our daughter. “
Jeff (right) said, “While it was always in the back of my mind that Jaci would develop ALS, nothing can prepare you for it to happen. It was a huge shock and we feel completely devastated ‘
When Jaci was diagnosed, an ALS doctor who already knew the family contacted them with a possible offer of hope and help.
A team of researchers working on a new ALS drug would like Jaci to try a new drug developed specifically to fight her faulty FUS gene.
The experimental drug – known as ASO – was approved by the FDA on Wednesday, but first for animal testing.
The drug is said to be administered through the spinal cord so that it can travel to reach the body’s motor neurons. Researchers know that certain proteins are out of control and that they kill the motor neurons – hopefully, this drug would silence the out-of-control proteins and stop disease progression. There is also hope that it can even restore some of Jaci’s motor neurons that are not so badly affected.
Lori is trying to raise $ 700,000 to pay for testing and manufacturing the drug designed specifically for her so that Jaci can take the drug as soon as possible.
It’s an arduous task, and the community of Jaci has stepped up the struggle to raise money and organize all kinds of events to raise awareness and raise the funds to pay.
But it will likely take six weeks for people to try it – and doctors say Jaci will likely lose her ability to breathe and speak independently before then.
“We can’t wait that long,” said Lori.
“By then, we’re afraid Jaci is too far away to be effective because this disease is so aggressive. Her breathing is already affected – time is so important. At best, they could test it for a week to get the right dose and then give it to Jaci.
“She’s going to die anyway, so we appeal to shorten this testing time by as many weeks as possible. We wrote to President Trump asking for his help to intervene so that she can get it much faster. The faster she gets ASO, the more likely we are to save her life.
“We are desperate. We would do anything to save our Jaci, but we need help!
“Although this drug is made for Jaci, we think it could be a huge breakthrough for all ALS patients.”
Jaci, consumed with fear, puts all her energy into fighting for the drug and keeps her memories of Alex’s ALS away.
“This disease is pure hell,” said Jaci.
“I don’t know if I will wake up one morning and something else has gone, like my speech.
“I have to continue to trust that this can happen to me. The way the community has come together for me is really comforting and it keeps me strong – without them behind me, I don’t know if I would fight too hard.
“I feel like I got this trip to be a voice for the ALS community and to honor my sister. This drug can save my life – my parents have already buried one daughter, they don’t have to bury another. ”
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