Latest news with #PSEN1
Yahoo
13 hours ago
- Health
- Yahoo
29-Year-Old Single Mom Diagnosed with Rare Form of Alzheimer's Disease: 'I've Started to Notice Small Changes Already'
Erin Kelly, from Queensland, Australia, recently learned she had the disease after inheriting a rare genetic mutation called PSEN1 from her motherNEED TO KNOW Erin Kelly, a 29-year-old single mom from Australia, has been diagnosed with a rare form of Alzheimer's disease Kelly says she's already experiencing symptoms after multiple members of her family, including her mother, died early from the disease Kelly doesn't know when to tell her 8-year-old daughter Evie about her diagnosisA young mother in Australia is speaking out about receiving a heartbreaking health diagnosis at age 29. Erin Kelly, from Eagleby, Queensland, learned she had early-onset Alzheimer's disease in June of this year, after tests confirmed in May 2024 that she'd inherited a rare genetic mutation called PSEN1 from her mother, Robyne, per 7News. Kelly — who is a single mom to 8-year-old daughter, Evie — told the outlet of the diagnosis, 'My [mom] died of Alzheimer's when she was 50,' adding, 'The disease took my grandfather at 45, and my aunt when she was the same age. I just didn't think it would come for me so soon.' Per the Mayo Clinic, "Young-onset Alzheimer's disease is an uncommon form of dementia that affects people younger than age 65. The condition also is called early-onset Alzheimer's disease." "Most people with Alzheimer's are age 65 and older. About 1 in 9 people age 65 and older in the United States has Alzheimer's disease. About 110 of every 100,000 adults between ages 30 and 64 have young-onset Alzheimer's," the site adds. Kelly's father had revealed she and her siblings had a 50/50 chance of getting Alzheimer's disease in January 2020, per 'Originally I think I was in a little bit of denial, and I originally said I didn't want to know,' she said, according to the outlet. 'I sort of stuck my head in the sand and just pretended it wasn't happening for probably the first three years, until I decided that I needed to do something about it," Kelly added. Scans revealed the first signs of damage to Kelly's neurons, which are cells in the brain that send messages all over the body, in June, 7News noted. 'I've started to notice small changes already,' Kelly told the outlet of already noticing symptoms. 'Forgetting words and mixing words together." 'I'll be thinking of something, and I'll just mush the words together," she added. 'It's things I didn't do previously.' Kelly said of her daughter Evie, 'We're not exactly sure how or what to tell her yet. She's still so young." 'She will get some information, but we want to protect her for as long as we can," she continued, per the outlet. 'The goal is to see her finish school, get married. I want to make sure she's an adult before I die.' Kelly's stepsister, Jessica Simpson, started a GoFundMe page to help raise money for treatment, claiming that Kelly had been "told she's too young to qualify for clinical trials in Australia." "There is a treatment called Leqembi. It's not a cure, but it could slow the progression and give Erin more time — to keep working, keep functioning, and most importantly, keep being Evie's [mom] for as long as she can," Simpson wrote on the page. "But this medication isn't available through the public system [in Australia] and is incredibly expensive." Never miss a story — sign up for to stay up-to-date on the best of what PEOPLE has to offer, from celebrity news to compelling human interest stories. According to the Alzheimer's Association, Lecanemab (Leqembi) "has received traditional approval from the U.S. Food and Drug Administration (FDA) to treat early Alzheimer's disease, including people living with mild cognitive impairment (MCI) or mild dementia due to Alzheimer's disease who have confirmation of elevated beta-amyloid in the brain." "Leqembi lowers beta-amyloid in the brain and reduces cognitive and functional decline in people living with early Alzheimer's," the association states. Simpson said on the GoFundMe page of her stepsister's diagnosis, "It's rare. It's terminal. And it's already starting to affect her life." "Most people don't associate Alzheimer's with someone so young — someone still packing school lunches, doing bedtime stories, and showing up every day for her child. But this is Erin's reality. And sadly, it's progressing fast," she added. Simpson insisted, "Erin isn't asking for a miracle — she knows there's no cure in time for her. She's simply asking for more time. More ordinary days. More little moments. More memories Evie can carry with her when Erin no longer can." The Mayo Clinic says it is rare for young-onset Alzheimer's to be "caused by a specific error in a gene, called a genetic mutation," which "can be passed from parent to child": "Three different genes may have a mutation that causes young-onset Alzheimer's disease. These genes are APP, PSEN1 or PSEN2." PSEN1 is the genetic mutation that Kelly inherited. "A person who inherits at least one copy of a mutated gene will likely develop Alzheimer's disease before age 65," the Mayo Clinic adds. "About 11% of people with young-onset Alzheimer's carry a genetic mutation that causes disease. But among all people with Alzheimer's disease, fewer than 1% carry one of these causal genes," the site states. PEOPLE has reached out to Simpson for an update on Kelly's diagnosis. Read the original article on People
Perth Now
03-08-2025
- Health
- Perth Now
Young mum, 29, shares heartbreaking wish after her shock Alzheimer's diagnosis
Single mother Erin Kelly received a life-changing diagnosis in June. But the 29-year-old from Eagleby, Queensland, has known since she was a teenager that one day Alzheimer's disease, which is the most common cause of dementia, could come for her. 'My mum died of Alzheimer's when she was 50,' Kelly told 'The disease took my grandfather at 45, and my aunt when she was the same age. 'I just didn't think it would come for me so soon.' In May 2024, tests confirmed Kelly had inherited a rare genetic mutation called PSEN1 from her mother, Robyne. Carriers of the genetic mutation are at high risk of developing Alzheimer's disease — a progressive brain condition that causes memory loss and cognitive decline — often before the age of 65. Erin Kelly and her eight-year-old daughter, Evie. Credit: Supplied Erin Kelly as a young girl with her mother, who was also diagnosed with Alzheimer's disease. Credit: Supplied In June, scans revealed the first signs of damage to Kelly's neurons, which are cells in the brain that carry messages. When the mum-of-one was given the official diagnosis of early onset Alzheimer's, Kelly says, 'I was in a bit of denial at first'. While dementia can happen to anybody, it is most common after the age of 65. A diagnosis of any kind of dementia when you're younger than 65 is called early onset dementia, or younger onset dementia, and is extremely rare. While Kelly's doctors can't say how quickly the disease will progress, it will soon begin to affect her memory, thinking and behaviour, with her condition expected to deteriorate over time. 'I've started to notice small changes already,' Kelly said. 'Forgetting words and mixing words together. 'I'll be thinking of something, and I'll just mush the words together. 'It's things I didn't do previously.' There is no cure, but Kelly is determined to spend the time she has left making lasting memories for her daughter, Evie, 8. 'We're not exactly sure how or what to tell her yet. She's still so young,' Kelly explained. 'She will get some information, but we want to protect her for as long as we can. 'The goal is to see her finish school, get married. 'I want to make sure she's an adult before I die.' Erin's stepsister Jessica Simpson has set up a Go Fund Me page for Kelly to raise money for a treatment called lecanemab (LEQEMBI). Erin Kelly and her stepsister Jessica Simpson, with their daughters, Evie, 8, and Dallas, 6. Credit: Supplied Erin Kelly is determined to spend the time she has left making lasting memories for her eight-year-old daughter Evie. Credit: Supplied The treatment could help slow down how quickly the disease progresses. In October 2024, the TGA made the decision not to register the medication in Australia, meaning 18 months of treatment could cost Kelly up to $90,000. 'Even with a confirmed diagnosis, Erin has been told she's too young to qualify for clinical trials in Australia,' Simpson explained. 'This treatment could give her more time to keep working, keep functioning and most importantly, keep being Evie's mum for as long as she can.' According to Dementia Australia, dementia is the term used to describe the symptoms of a large group of illnesses which cause a progressive decline in a person's functioning. It is a broad term used to describe a loss of memory, intellect, rationality, social skills and physical functioning. There are many types of dementia, including Alzheimer's disease, vascular disease, frontotemporal dementia and Lewy body disease. Today, there are roughly 433,000 Australians living with dementia and there are an estimated 29,000 people living with younger onset dementia, which can include people in their 30s, 40s and 50s. 'Most people don't associate Alzheimer's with someone so young,' Jessica said. 'Someone still packing school lunches, doing bedtime stories and showing up every day for their child. 'But this is Erin's reality. And sadly, it's progressing fast.'
7NEWS
03-08-2025
- Health
- 7NEWS
Young mum, 29, diagnosed with Alzheimer's disease shares heartbreaking wish to see her daughter finish school
Single mother Erin Kelly received a life-changing diagnosis in June. But the 29-year-old from Eagleby, Queensland, has known since she was a teenager that one day Alzheimer's disease, which is the most common cause of dementia, could come for her. 'My mum died of Alzheimer's when she was 50,' Kelly told 'The disease took my grandfather at 45, and my aunt when she was the same age. 'I just didn't think it would come for me so soon.' In May 2024, tests confirmed Kelly had inherited a rare genetic mutation called PSEN1 from her mother, Robyne. Carriers of the genetic mutation are at high risk of developing Alzheimer's disease — a progressive brain condition that causes memory loss and cognitive decline — often before the age of 65. In June, scans revealed the first signs of damage to Kelly's neurons, which are cells in the brain that carry messages. When the mum-of-one was given the official diagnosis of early onset Alzheimer's, Kelly says, 'I was in a bit of denial at first'. While dementia can happen to anybody, it is most common after the age of 65. A diagnosis of any kind of dementia when you're younger than 65 is called early onset dementia, or younger onset dementia, and is extremely rare. While Kelly's doctors can't say how quickly the disease will progress, it will soon begin to affect her memory, thinking and behaviour, with her condition expected to deteriorate over time. 'I've started to notice small changes already,' Kelly said. 'Forgetting words and mixing words together. 'I'll be thinking of something, and I'll just mush the words together. 'It's things I didn't do previously.' There is no cure, but Kelly is determined to spend the time she has left making lasting memories for her daughter, Evie, 8. 'We're not exactly sure how or what to tell her yet. She's still so young,' Kelly explained. 'She will get some information, but we want to protect her for as long as we can. 'The goal is to see her finish school, get married. 'I want to make sure she's an adult before I die.' Erin's stepsister Jessica Simpson has set up a Go Fund Me page for Kelly to raise money for a treatment called lecanemab (LEQEMBI). The treatment could help slow down how quickly the disease progresses. In October 2024, the TGA made the decision not to register the medication in Australia, meaning 18 months of treatment could cost Kelly up to $90,000. 'Even with a confirmed diagnosis, Erin has been told she's too young to qualify for clinical trials in Australia,' Simpson explained. 'This treatment could give her more time to keep working, keep functioning and most importantly, keep being Evie's mum for as long as she can.' According to Dementia Australia, dementia is the term used to describe the symptoms of a large group of illnesses which cause a progressive decline in a person's functioning. It is a broad term used to describe a loss of memory, intellect, rationality, social skills and physical functioning. There are many types of dementia, including Alzheimer's disease, vascular disease, frontotemporal dementia and Lewy body disease. Today, there are roughly 433,000 Australians living with dementia and there are an estimated 29,000 people living with younger onset dementia, which can include people in their 30s, 40s and 50s. 'Most people don't associate Alzheimer's with someone so young,' Jessica said. 'Someone still packing school lunches, doing bedtime stories and showing up every day for their child. 'But this is Erin's reality. And sadly, it's progressing fast.'
Daily Mail
01-08-2025
- Health
- Daily Mail
Erin is a gentle and beloved single mum in Melbourne. She's just been diagnosed with Alzheimer's at 29
At just 29, Melbourne mum Erin Kelly is facing the heartbreaking reality that she's living on borrowed time. A single parent to her eight-year-old daughter Evie, Erin has recently been diagnosed with early onset Alzheimer's - a devastating blow made even more cruel by its rare genetic cause. Now she's in a race against the clock to fund the one treatment that could slow it down. 'There's no chance of me reaching retirement age so I'm doing everything I can now, while I still can,' Erin told the Daily Mail. Alzheimer's typically strikes later in life, but for Erin, it's deeply personal, and terrifyingly genetic. In May 2024, the young mum discovered she carries a rare mutation of the PSEN1 gene, one that guarantees she will develop Alzheimer's earlier than normal. Only about 200 families worldwide carry it. 'With young onset Alzheimer's, they (the specialists) said only 1 per cent of young onset Alzheimer's cases are caused by a genetic mutation,' Erin said. 'I always knew there was a 50/50 chance I'd develop it later in life. But even with my family history, I never imagined it would happen to me this early.' Erin lost her mum to Alzheimer's when she was just 17. Her mum was only 50. After further digging, she's now found out that eight members of her extended family have battled the disease too. However, the PSEN1 mutation is what makes Erin's diagnosis so rare and so aggressive. Doctors can't say much without more tests, but have told Erin that her life expectacny is between another eight to 15 years. The official diagnosis came in July, following a year-long journey of MRIs, specialist consultations and anxious waiting. It was Erin's father who first urged her to get tested for the mutation in May 2024, after she began noticing small lapses and mixed-up words, which she initially dismissed. 'A year ago I contacted Alzheimer's Australia, but they originally said they couldn't help because I didn't have a confirmed diagnosis yet,' she said. 'So, I reached out to many others including neurologists, and they all said they didn't really know what to do with me. But then I ended up with a geriatrician [a doctor specialising in the care of the elderly], and he is helping.' Despite early symptoms and a clear family history, getting answers has been slow and costly. Specialists charged up to $500 a visit. Each scan costs her hundreds more. She has since been referred to a neuropsychologist, speech therapist and dietitian - but couldn't afford to see any of them. Even a medical drink called Souvenaid, formulated to support memory in Alzheimer's patients, was too expensive at $100 a month. 'I've had to pick and choose what I can pay for. I just can't justify that as well, given the position we're in,' she said. Despite her diagnosis, Erin was told she is too young to qualify for Australian clinical trials or subsidised treatment. 'It's like they don't know what to do with me,' she said. But there is a treatment that could help, which is a breakthrough infusion drug called Leqembi. Leqembi, which is administered as an infusion every two weeks, has been shown to slow the progression of Alzheimer's by up to 30 per cent. It works by targeting and removing the sticky amyloid plaques that kill brain cells and cause cognitive decline. There's just one problem - it's only available on a case-by-case basis for people aged 50 to 90, and at a staggering cost of $90,000. 'My doctor basically said that I don't cover a lot of the criteria. But if I can supply the money, then I've got a much higher chance of being accepted,' she said. Since Evie was six weeks old, it's been just the two of them. Erin has poured every ounce of her energy into raising her daughter and building a stable life. Now, she's fighting to hold onto that life and the precious time she has left. She's started creating photo books and writing letters for Evie, capturing memories and family stories she fears she won't be able to tell one day. 'I want her to remember who I was. Who her grandmother was, too, as I'm the only one who can tell her that,' she said. A breakthrough infusion drug called Leqembi could delay Erin's symptoms by up to 30 per cent, but she is too young to qualify for it - unless she can pay $90,000 Erin's family hopes to raise the full $90,000 to cover ongoing treatments and give her a fighting chance at slowing the disease in its tracks. If treatment becomes impossible, the funds will help create lasting memories with Evie too, as well as special time together, and the chance to simply live while she still can. 'She's not asking for a miracle,' her stepsister Jessica said. 'She's just asking for more time.'
Mint
29-06-2025
- Health
- Mint
Three siblings, one fatal gene: A family's fight against early-onset Alzheimer's
Hannah Richardson is hopeful about her future and its endless possibilities. But the 24-year-old's plans are clouded by an unthinkable reality—there is a 50% chance she will develop Alzheimer's disease in her 30s. Hannah's family has a history of a rare genetic mutation that, when inherited, virtually guarantees that the carrier will die of an aggressive form of Alzheimer's early in life. No drug has been found to stop it. But now researchers are exploring a new avenue: Could pre-emptive treatment slow or even halt the memory-robbing disease in people at high risk of developing it? Hannah and her two siblings will help researchers test that theory. They are enrolling in a new clinical trial led by doctors at the Washington University School of Medicine. As part of the trial, the siblings will finally find out if they carry the fatal gene. 'I don't know if being in the trial is going to save me or my siblings. But in my head, it's the least I can do. Research is how cures are found," said Hannah, who dreams of becoming a physician assistant and is applying to graduate programs. Her brother Jacob, 22, and sister Rylee, 19, are both in college. Unlike most cases of Alzheimer's, which are unpredictable, 'in this population we know who will develop the disease and when they will develop it," said Heather Snyder, senior vice president of medical and scientific operations at the Alzheimer's Association, a major funder of the trial. Doctors have identified over 300 inheritable genetic mutations that cause early-onset Alzheimer's. These rare genes account for less than 1% of people with the condition, but researchers say that studying families like the Richardsons can offer insights into how to prevent and treat Alzheimer's in everyone. Among the people in Hannah's family who carry a mutation in what is known as the presenilin-1, or PSEN1, gene, the average age when Alzheimer's symptoms start is 39, according to the family. The disease is aggressive once symptoms appear and the decline is swift, the family said. 'I call it the monster," said Mary Salter, Hannah's grandmother. Hannah's grandfather and three of his four brothers died of Alzheimer's in their early 40s, soon after developing symptoms. Hannah's uncle died last year of the disease at the age of 44. And Hannah's mother, Carrie Richardson, started showing subtle signs of the disease in her early 40s. Now at age 44, Carrie has started to decline mentally. Carrie's children remember vividly the day in 2012 when she learned she was a carrier of the PSEN1 mutation. Her eyes were red and puffy when she picked the kids up from school. Pressed by Hannah to tell them why, a sobbing Carrie told them the news in the car. The siblings, who were all under 12, remember crying, too, though not fully understanding why. Today, Carrie has memory lapses and sometimes struggles to communicate, her children say. Her worsening symptoms forced her to quit her job as a preschool teacher and this month, she started the process of leaving her own home to move in with Mary. Carrie and her brother enrolled in a clinical trial that began at WashU Medicine in 2012. That trial tested whether the early use of experimental drugs that target a sticky protein in the brain known as amyloid could slow the progression of Alzheimer's in people who carried PSEN1 mutations and other rare genes. Hannah's uncle hadn't been able to join an extension of the trial because his symptoms became too pronounced, but her mom continues to be a participant and receives a bimonthly infusion of an antiamyloid drug. In a paper published in Lancet Neurology in March that detailed interim results of the extended trial, WashU Medicine researchers said treating people like Hannah's mom with antiamyloid drugs before Alzheimer's symptoms began, delayed the onset of the disease—in some cases lowering participants' risk of developing symptoms by 50%. The first antiamyloid drugs were approved by the Food and Drug Administration in 2021. These drugs clear accumulations, or plaques, of amyloid in the brain, which researchers once thought could be the root cause of Alzheimer's. But some doctors have since questioned this hypothesis, as well as whether the benefits of these treatments outweigh their risks. The drugs don't stop Alzheimer's in its tracks and though they have shown to reduce cognitive decline in some large clinical trials, the slowing was modest at best, said Dr. Scott Small, a Columbia University neurologist. Carrie Richardson prepares to blow out candles on her birthday cake surrounded by her children and mother.A sign honoring Bryan Salter hangs on Mary Salter's home. 'The science now predicts that amyloid plaques are not the root source of Alzheimer's," Small said. Swelling and bleeding in the brain is a possible side effect of antiamyloid drugs. Rarely, people have died from this complication. In about half of all patients in the WashU Medicine study, some brain swelling and microbleeds were detectable in MRI scans, though researchers said about 95% of participants had no symptoms from the medications. Antiamyloid drugs remain the only FDA-approved treatment available that can change the course of Alzheimer's. Dr. Randall Bateman, a neurologist who led the WashU Medicine study, said early use of the treatments could improve their efficacy and safety. He said he remains optimistic that removing—or even preventing altogether—the buildup of amyloid could slow or even halt the progression of the disease. Hannah and her siblings believe that antiamyloid drugs have helped stall their mom's Alzheimer's. That belief spurred them to enroll in a similar WashU Medicine clinical trial—one that seeks to treat carriers of rare genes with a different experimental antiamyloid drug, called remternetug, many years before they develop symptoms and, in some cases, even before amyloid has built up in their brains. Drugmaker Eli Lilly, which makes the drug, said it works similarly to earlier antiamyloid treatments but has the benefit of being administered as an injection rather than an intravenous infusion. Rylee Richardson, a cheerleader and rising sophomore at Tulane University, said she and her siblings thought long and hard about participating in the trial. They ultimately decided that it was worth the potential risks. 'I will do anything that gives me and my siblings a better chance," she said. Until now, Rylee and her siblings had decided not to find out if they carry the PSEN1 mutation out of fear that it could upend their lives. But if they want to participate in the extended phase of the trial, they will have to learn the truth. The initial phase will last for two years and focus on basic efficacy and safety questions, said Dr. Eric McDade, a colleague of Bateman's who is leading the trial. Only people who test positive for a high-risk genetic mutation will be randomized to either receive a low dose of the active drug or placebo. For those who test negative, they can stay in the trial if they choose not to find out their genetic status and would be given a placebo. Dr. Richard Isaacson, a neurologist at the Institute for Neurodegenerative Diseases who isn't involved in the trial, said he believes antiamyloid drugs could be helpful in slowing cognitive decline when used preventively in patients at risk of Alzheimer's. He himself prescribes them to patients at his clinics in New York and Florida, but only in people who already have some amyloid buildup. He questioned whether it made sense to use these drugs in people who don't have amyloid at all. 'That is not something that sits well with me," said Isaacson. WashU Medicine researchers said that in animal experiments, antiamyloid treatments were most effective when used before evidence of amyloid buildup. But such an experiment has yet to be conducted in people. Alzheimer's has been a specter that has haunted the Richardson siblings since they were children. The three of them made a pact years ago to not have children if they learned that they carried the Alzheimer's gene. 'We decided that we would be the last three. No one has to suffer anymore from our family," Hannah said. 'We want to do everything we can to stop it for us and everybody else."
