Rapid genome sequencing (rGS) testing is feasible to facilitate early diagnosis among infants with new-onset epilepsy, according to a study.
The international, multicenter pilot cohort study is published in The Lancet Neurology.1
“The status quo has been to treat seizures like a symptom and try to find medications that alleviate them,” Annapurna Poduri, MD, MPH, director of the Neurogenetics and Epilepsy Genetics Programs at Boston Children’s Hospital, and study co-lead author, said in a statement.2 “But medications aren’t getting at the underlying causes of epilepsy. We all feel a deep sense of responsibility to bring our genetic discovery successes to our patients.”
Although genetic testing can help determine the cause of epilepsy, comprehensive testing is not standard of care, and can leave families and caregivers waiting for answers about their child’s health.
In this study, the researchers aimed to better understand the impact of broad genome sequencing among infants with unexplained seizures and their parents for infantile epilepsy.
The study screened 147 infants with new-onset epilepsy or complex febrile seizures from a pilot study of the International Precision Child Health Partnership (IPCHiP) in Australia, Canada, the United Kingdom, and the United States between September 1, 2021, and August 31, 2022.
After exclusion, the study enrolled 109 participants, in which 107 infants had rGS and 100 rGS results were analyzed.
Clinical data such as development study site, referral setting, sex, parent-reported race, gestational age, family medical history, epilepsy details, development before seizure onset, developmental plateau or regression following seizure onset, neurological and non-neurological features, MRI findings, previous and concurrent genetic testing, and if applicable, age at death were collected from medical records, treating clinicians, and parents.
Additionally, blood samples were collected and underwent genome-wide analysis for single nucleotide variants, small insertions and deletions, and the number of copy variants. Furthermore, infants with pathogenic or likely pathogenic variants in genes consistent with phenotypes and modes of inheritance were considered for rGS.
Across all children enrolled in the study, 43% (95% CI, 33%-25%) received a diagnosis within weeks (37 days; IQR, 25-50).
A genetic diagnosis was associated with neonatal seizure onset compared with infantile seizure onset (74% v 36%; P = .0027), referral setting for intensive care (71%), non-intensive care inpatient (44%), outpatient (28%; P = .0178), and epilepsy syndrome (87% for self-limited epilepsies, 35% for developmental and epileptic encephalopathies, and 35% for other syndromes; P = .001)
Additionally, rGS showed heterogeneity, with 34 unique genes or genomic regions implicated. Furthermore, diagnosis impacted prognosis in 39 of 43 (91%) of these cases, and guided treatment options for over half of infants.
The researchers acknowledged some limitations to the study, including unsureness in the detection of variants of uncertain significance that were not considered clinically diagnostic, in which the researchers believe further studies need to be done. Moreover, early genetic diagnosis and awareness of future prognosis may contribute to stress and anxiety among parents of infants with epilepsy.
Despite limitations, the researchers believe the study was able to demonstrate high feasibility, diagnostic yield, and short-term clinical effects of rGS in infants with epilepsy and anticipates long-term benefits for patients and families.
“It’s incredibly exciting to share the results from the first phase of this IPCHiP project and, importantly, it is fantastic that this research has provided powerful evidence for the clinical benefits of rapid genomic sequencing in infants with new-onset epilepsy,” Amy McTague, PhD, study co-lead, honorary consultant pediatric neurologist at Great Ormond Street Hospital and clinician scientist at the University College London Great Ormond Street Institute of Child Health, said in a statement.2 “Through global collaboration of expert researchers, we have shown how this testing can be used, across 4 different healthcare systems, to rapidly diagnose children with epilepsy, finding an answer for over 40% and guiding treatment in over 50% of these children.”
References
1. D’Gama AM, Mulhern S, Sheidley BR, et al. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (gene-steps): an international, multicentre, pilot cohort study. Lancet Neurol. 2023;22(9):812-825. doi:10.1016/s1474-4422(23)00246-6
2. Global genomic collaboration provides diagnoses and informs care for infants with epilepsy. EurekAlert! Press release. August 16, 2023. Accessed August 22, 2023. https://www.eurekalert.org/news-releases/998708.
8-Aug-2023 1:10 PM EDT, by University of Texas Health Science Center at Houston
Newswise — A five-year, $3.1 million grant to study preventive strategies for sudden unexpected death in epilepsy (SUDEP) has been awarded to UTHealth Houston by the National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke.
Nuria Lacuey Lecumberri, MD, PhD, associate professor in the Department of Neurology with McGovern Medical School at UTHealth Houston, is principal investigator of the study, which builds upon her years of research analyzing breathing during epileptic seizures and the localization of brain areas involved in breathing regulation.
SUDEP is a devastating complication of epilepsy and a leading cause of premature death in patients with chronic uncontrolled epilepsy. Most attacks occur after a generalized convulsive seizure that leads to respiratory arrest, and patients are typically found in bed, lying flat on their stomachs. Yet, despite the major impact on life expectancy in these patients, no targeted SUDEP preventive strategies currently exist. It occurs more often in patients ages 21 to 40 compared to other age groups, according to the Centers for Disease Control and Prevention.
“The purpose of this research is to increase the understanding of brain respiratory control with the goal of using neuromodulation to enhance respiration after generalized convulsive seizures,” said Lacuey, who sees patients at UTHealth Houston Neurosciences. “Identification of respiratory brain sites capable of stimulation-driven breathing enhancement will help us develop new and innovative neuromodulation approaches for ambulatory SUDEP prevention.”
Most SUDEP is due to post-convulsive central apnea, according to previous research that analyzed patients who died while being monitored in hospital epilepsy units. Crucially, a three-minute post-convulsive “window of opportunity” was identified, beyond which the deadly cascade of respiratory and cardiac failure takes place.
By advancing current understanding of forebrain breathing networks, Lacuey believes her team can develop neuromodulatory, or nerve-stimulating, strategies for respiratory facilitation and apnea rescue that may prevent SUDEP during this critical time window.
They hope to gain a better understanding of forebrain modulation of breathing by using anatomically precise, intracranial stereotactic electroencephalography (SEEG) data that can determine optimal stimulation paradigms to enhance breathing.
The translational impact of these results will set the stage for larger scale clinical trials of breathing modulation as potential anti-SUDEP therapy, using central apnea to trigger responsive neurostimulation in people who are at higher risk of SUDEP. This work will also provide insights into potential treatment of central apnea associated with other diseases, such as Parkinson’s and Alzheimer’s diseases, obesity, heart failure, and stroke.
“Any SUDEP prevention strategy requires successful rescue from such respiratory arrest during this critical time window, and unfortunately, there are no effective strategies for SUDEP prevention,” Lacuey said. “This project identifies neuromodulation approaches for respiratory rescue that will aid in the design of SUDEP preventive interventions.”
The research is funded by NIH Grant No. R01NS133743. UTHealth Houston investigators contributing to the project include Samden Lhatoo, MD; Sandipan Pati, MD; John Mosher, PhD; and Yuri Dabaghian, PhD, all with McGovern Medical School, and Xi Luo, PhD, with UTHealth Houston School of Public Health.
Epilepsy looks different depending on the person, but here are some strategies for managing symptoms and staying safe.
LANDIS WIEDNER JUN 4, 2021 9:00 AM
AS VACCINATION RATES rise and municipalities begin to reopen, remembering simple social behaviors—like making small talk with co-workers or hugging a parent hello—is suddenly baffling. For people with chronic illness like me, I need a refresher on how to manage it in the “real” world. Fortunately, my strategies are one touch away on my smartphone.
I was diagnosed with epilepsy at age 32, and it surprised me to learn that epilepsy is more complicated than treating seizures. It’s a fickle condition because seizures and their triggers are individual and inconsistent, prompting me to continuously monitor my daily activities, emotions, and anti-epileptic medications.
Under pandemic restrictions, my personal epilepsy guidelines slowly blurred. It only took one “normal” weekend and the seizure that came with it for my memory to snap back. Dating and family gatherings require more monitoring when they happen in-person instead of the computer screen from my couch.
Like many health conditions, epilepsy makes me feel a loss of control. Over the past four years, I’ve cultivated strategies to mitigate seizure frequency, care for myself when they occur, and cope with epilepsy’s daily challenges. To find empowerment, I just have to pick up my phone.
Ready, Set, Stop
Staying mentally balanced is important for everyone, but especially for those with epilepsy, as anti-epileptic drugs and seizures are both energy drainers. One simple tip is to take frequent breaks throughout the day.
It’s counterintuitive that pausing brain activity improves cognitive function. A break sounds simple enough, like regular exercise or meditation, but it requires accountability to make it happen.
I use my phone to set an alarm 20 to 45 minutes from the time I sit down at my desk. There’s something jarring about hearing the same sound that wakes you up in the morning while you’re in the middle of writing an email. Just like I do when I wake up, I hit the snooze button twice before begrudgingly getting up from my desk to pick up a magazine, grab a snack, or step outside for a few minutes.
University of Chicago neurologist Richard Kraig explains the importance of breaks for a healthy brain. “Environmental enrichment such as increased intellectual, social, and physical activity can reduce subsequent neurological disease by half, including epilepsy, as well as help restore brain and mental health after the onset of injury,” says Kraig. “For people this can be as simple as periodically taking a casual walk in nature and daydreaming.”
Despite my initial irritation at the interruption, I come back to my desk feeling refreshed with renewed energy.
An Easy Escape
Because stress is a common trigger for seizures, sometimes we need more than a break—we need an immediate escape. This is when I pull out Wordscapes, a friendly crossword app, and immerse myself.
Creating words from a handful of letters, along with the app’s outdoor scenes, grounds me. Word games require mental engagement without emotional attachment. Whether on a crowded bus or fretting over an upcoming meeting, the problem-solving aspect of Wordscapes immediately takes my focus off the stressor. The app exudes positivity with its bright color palette and encouraging messaging.
Word gaming isn’t appealing to everyone, but there are other stress-relieving game apps to check out. I encourage you to find an app that requires focus while providing positive energy.
The Seizure Diaries
Keeping a record of seizures is important for diagnosis, treatment, and lifestyle. There are nearly 100 different seizure tracking apps, making it daunting to find the right one. After testing several, I’m partial to SeizAlarm due to its simplicity.
The diary portion of the app, where I log my seizures, is simple and free. SeizAlarm provides sections to detail the seizure type, emotional state, potential triggers, description of the seizure, and post-seizure description. Each section has a menu of options to choose from. For example, the “Potential Triggers” section lists 10 selections, such as “Stress” and “Hormonal fluctuations” and includes a space to add details.
It’s common to not remember the events before or after a seizure, much less the seizure itself. Providing descriptors prompts my memory, helping to create a more accurate account. Seeing these symptoms and triggers listed in the app is also comforting, as a reminder that they’re normal.
When I’m in a seizure cluster (as in, having several seizures a week), I subscribe to the $14.99 monthly plan for some additional features that help keep me safe. Upon opening the app, the home screen has two buttons. One alerts my emergency contacts via text that I’ve just had a seizure. The other button releases an audio message I’ve previously dictated giving instructions if a kind passersby tries to help and I’m unable to communicate. Everyone has different needs immediately following a seizure, and my recorded message instructs people not to call an ambulance and my that unresponsiveness is normal.
Unfortunately this app is only compatible with the iPhone. An Android equivalent is Seizure Emergency Alert, which also provides logging features and emergency notifications.
Find Comfort in the Familiar
A seizure is an overactivity of neurons in the brain, often leaving people exhausted and disoriented. In the days after, I just want perfunctory comfort. But with my cognitive abilities shot, I can’t remember where to find it. The Notes app on my phone lists all of my post-seizure go-to’s.
The note lists my favorite movies, podcasts, and restaurant deliveries. Film and food aren’t ground-breaking coping strategies by any means, but having a selected inventory of what to do in a post-seizure state has proven helpful for me, and hopefully will for you, too.
“The postictal [post-seizure] state can definitely be a scary time for patients,” says Elizabeth Gerard, a neurologist who specializes in epilepsy at Northwestern Memorial Hospital. “They may have more difficulty with language or decision making. You can feel drained or more anxious, so having calming things to go to is helpful. And, of course, there’s the emotional aspect of having a seizure.”
The psychological fallout of a seizure might require calling upon your favorite people, too. Reaching out isn’t easy, especially when you can’t remember who to call or text. The post-seizure note also includes people to connect with for emotional support.
When You Need a Hug, Turn to Twitter
No matter how much encouragement we get from our loved ones, epilepsy can still feel like a very solitary experience, especially after a seizure. Connecting with people who also struggle with the condition is helpful, but also hard to find.
Empathy certainly isn’t the first thing that comes to mind when we think of Twitter. But there’s a way to tailor your experience on the platform by using Twitter lists, which let you curate content from a self-selected group of people. After searching #epilepsy, I accrued a list of users who tweet frustrations, encouragement, sadness, or start conversations of the epilepsy experience.
Safe conversation is a healing practice, according to Tom Stanton, executive director of Danny Did Foundation, a nonprofit dedicated to epilepsy awareness. “From the grocery store to a board meeting to an event, we have these conversations wherever we can. It gives the space to talk about epilepsy without feeling judged or stigmatized,” he says.
I’ve found the same safety net in my “Epilepsy Peeps” Twitter list. The brevity of a tweet offers manageable reading if my mind is tired but looking for solace. I sometimes reply back with all my brain can muster—a heart emoji. Or other times I don’t respond at all. That’s the beauty of Twitter sometimes: I can find community without spending energy.
Turning my phone into the place that holds my coping mechanisms provides reassurance for this unpredictable condition. Hopefully some of these strategies are helpful for you or someone in your life also living with epilepsy.
The new experimental cell therapy is part of a national clinical trial aimed at eliminating seizures
“This first-in-human clinical trial represents a paradigm shift in the way we treat this disease process, shifting from procedures that destroy bad tissue to procedures that repair the bad tissue. Our hope is that this procedure has such a high success rate and good tolerability that it becomes the standard of care for all drug-resistant focal epilepsies.”
Jerry Shih, MD, director of the Epilepsy Center at UC San Diego Health
July 26, 2023
In what could lead to a revolutionary advancement in the treatment of temporal lobe epilepsy, UC San Diego Health has become one of the first health systems in the country to inject regenerative cells into the brain to treat epileptic seizures.
Part of a national clinical trial, UC San Diego Health’s multidisciplinary team performed the third ever experimental regenerative brain cell therapy procedure earlier this month. UC San Diego Health is the only nationally designated Level 4 Adult Epilepsy Center in the region.
During the surgery, Sharona Ben-Haim, MD, associate professor of neurological surgery at University of California San Diego School of Medicine and surgical director of epilepsy at UC San Diego Health, made multiple injections of inhibitory brain cells into mapped out precision points of the patient’s brain under the bright lights of the operating room.
The cells, called interneurons, are derived from human stem cells. If successful, the first-ever regenerative human cell experimental therapy, NRTX-1001, could provide drug-resistant temporal lobe epilepsy patients with the first non-destructive option to potentially cure their seizures.
In between setting up multiple trajectory points on the patient’s brain prior to the cell insertion, Ben-Haim carefully studied the intra-operative magnetic resonance imaging scans that pinpoint her every move.
While digitally rotating the brain three-dimensionally on screen to inspect her work, Ben-Haim explained, “This experimental therapy offers us the potential to essentially restore the balance in the brain to be able to calm and ideally stop the seizures, while retaining the normal function of that part of the brain. Currently, we do not have a therapy that allows us to do that, so this is really exciting.”
The clinical trial, sponsored by Neurona Therapeutics, is seeking to enroll 40 participants across the country to study the results of the implantation of the interneurons, which produce gamma-aminobutyric acid (GABA) — a neurotransmitter that blocks overactive impulses between nerve cells in the brain.
“In drug-resistant temporal lobe epilepsy, some of the normal brain cells in the temporal lobe have been damaged or are dead,” said Jerry Shih, MD, professor of neurosciences at UC San Diego School of Medicine, neurologist and director of the Epilepsy Center at UC San Diego Health. “This experimental cell therapy implants healthy human brain cells into the damaged temporal lobe with the hope that those new cells will begin establishing connections in the patient’s brain, to ultimately make a healthier temporal lobe.”
Epilepsy is the fourth most common neurological disorder in the U.S. after migraine, stroke and Alzheimer’s disease, according to the Centers for Disease Control and Prevention. An estimated 3.4 million Americans have epilepsy and approximately one-third of those individuals do not respond to anti-seizure medications.
Traditional seizure reduction therapies involve removing or laser-burning the parts of the brain where the seizures originate or implanting deep-brain electrodes to modulate seizure activities. This new experimental regenerative therapy could potentially treat multiple parts of the brain without tissue removal, offering new hope to drug-resistant epilepsy patients.
“This first-in-human clinical trial represents a paradigm shift in the way we treat this disease process, shifting from procedures that destroy bad tissue to procedures that repair the bad tissue,” Shih said. “Our hope is that this procedure has such a high success rate and good tolerability that it becomes the standard of care for all drug-resistant focal epilepsies.”
Back in the operating room, Ben-Haim meticulously inspected her work on her patient’s brain. He is the third person in the nation to undergo the procedure, which was initiated at SUNY Upstate Medical University in Syracuse, New York in June 2022, followed by Oregon Health Sciences University in Portland, Oregon in November 2022.
“These patients are willing to try an experimental procedure in this clinical trial to get control of their seizures, and I think they are incredibly brave,” Ben-Haim said. “We are already seeing improvements in as early as one month. Our ultimate goal is to improve a patient’s long-term quality of life.”
Patients who participate in the trial will be monitored regularly for two years after the procedure to study the effects of the implanted interneurons. Preliminary data reported in June demonstrates a more than 90% reduction in seizure frequency in the first and second patients at one year and seven months, respectively, post-treatment.
Shih, the principal investigator for UC San Diego Health’s involvement, said the study is the most complex clinical trial he’s served on in his career, spanning 25 years of conducting clinical trials at three leading academic institutions across the country.
“This study can only be conducted in an institution with a strong clinical and research infrastructure, which we are fortunate to have here at UC San Diego Health,” Shih said.
He added that it required tremendous coordination among UC San Diego teams, including faculty and staff from neurosciences, neurosurgery, cellular regenerative medicine, radiology, neuropsychology and neuro critical care; California Institute for Regenerative Medicine Alpha Clinic at the Sanford Stem Cell Clinical Center; Advanced Cell Therapy Lab; Center for Multimodal Imaging and Genetics and the Consortium for Regenerative Medicine.
“We would not have been able to participate in this study without the active collaboration of all these integral groups. It truly takes a village.”
Corynne McKenney-Collier’s lawyer Stanley King filed a tort notice last week of intentions to file a lawsuit alleging “unnecessary and excessive force” by Galloway police.
Shortly after leaving home for work about 7 a.m., Corynne McKenney-Collier’s vehicle swerved on a South Jersey road, striking a tree.
After having an epileptic seizure, she has little recollection of what happened next, save for police bodycam video she obtained when she went seeking answers about the May 31 episode. Now, she is considering a lawsuit against police for how she says she was treated after the crash after they assumed she was under the influence of drugs.
A Galloway Township police officer was traveling behind McKenney-Collier on Moss Mill Road when he saw her 2016 Suburban veer off the Atlantic County road. Responding to the scene, the officer immediately suspected a possible overdose and ordered McKenney-Collier to unlock the door. More officers arrived and repeatedlyattempted to break the driver’s side window.
“It’s gotta be a drug thing,” an officer can be heard saying in the bodycam video. “She must have shot up something.”
Eventually, McKenney-Collier unlocked the door and police pulled her from the truck. Officers searched for drugs and checked her pockets for needles. In a search of the car, an officer initially asks whether a cigarette lighter was a pen vape, typically used for cannabis, nicotine or other substances.
“She took something,” an officer said. “Her mouth is all foaming.”
McKenney-Collier obtained the bodycam video under the New Jersey Open Public Records Act and provided it to The Inquirer. Portions of the video were redacted by the police, leaving some parts distorted with audio only.
Civil rights lawyer Stanley King, who represents McKenney-Collier, has requested unedited copies of the bodycam video. He filed a tort notice last week of intentions to possibly file a lawsuit alleging “unnecessary and excessive force” by Galloway police.
According to the notice, McKenney-Collier was dragged to the ground by police, resulting in torn clothing and injuries to her back and rotator cuff, as well as swelling and bruising to her wrists from “excessively tight handcuffing.” She was kept at the crash scene for nearly a half-hour before she was taken to a local hospital, the notice said, where doctors confirmed that she suffered a seizure and that there were no drugs in her bloodstream.
Corynne McKenney-Collier with her lawyer Stanley King outside King’s law office in Woodbury on July 7, 2023. Collier suffered from a seizure while driving in May in Galloway Township.
Police suspected heroin, dragging her out of the car, and arresting Collier. Collier wears braces on both of her arms due to injuries from the encounter with the police. Allie Ippolito / Staff Photographer
Galloway Township Police Chief Richard D. Barber was unavailable to speak about the case. A spokesman, Capt. Eric Hendrickson, declined comment, citing the pending legal case. Township solicitor Marc Nehmad did not respond to a message at his law office.
Brian Higgins, an adjunct professor at John Jay College of Criminal Justice who viewed the bodycam video, said it was troubling that police automatically assumed McKenney-Collier was under the influence, without any evidence. He noted that there was no indication they conducted a sobriety test.
“They draw this conclusion and treat her as if she is a criminal consuming illegal narcotics,” said Higgins, the former chief of the Bergen County Police. “The police are supposed to be there to help.”
McKenney-Collier and her husband, Richard, believe race played a part in the case. The couple is Black; the officers who responded are white.
“Black lives matter, where?” said Richard Collier, 51.
McKenney-Collier, 49, of Egg Harbor City, said she was heading to her job at the nearby Mrs. Barnes Play House Daycare, when the crash happened. Diagnosed with epilepsy eight years ago, McKenney-Collier said it was her first seizure in two years and the first while driving. She believes a reaction to a new pain medicine may have caused the seizure.
At the time of the crash, she was wearing a silver, personalized epilepsy bracelet with her nickname “Cory,” which she usually responds to after a seizure. At one point in the video, McKenney-Collier mentions bracelets on her arm. .
In the bodycam, a disoriented McKenney-Collier repeatedly pleaded with police “please help me.” Police observed thatshe was wearing a seatbelt and told a dispatcher that it appeared unlikely she had a head injury. Police told her she could go to the hospital or with them.
“Look, I need help,” she pleads. “Please help me. Please, God.”
Police handcuffed McKenney-Collier and placed her in the back of a police cruiser while they searched her truck, tossing items aside. She didn’t respond when an officer asked whether she needed any of her personal belongings, so they left her cell phone and purse in the truck, which was left running, according to her husband, who came to pick it up.
McKenney-Collier asked the officers several times to remove the handcuffs. “Ouch, officer,” she could be heard shouting.
“Ma’am, you are under arrest, stop resisting,” an officer said. “We’ll let you go after you get all your charges.”
Shortly after an ambulance pulled off to take McKenney-Collier to the Atlantic City Medical Center in Pomona, her brother, LaMont McKenney, arrived at the crash scene. He recognized his sister’s truck and asked police to confirm her identity.
“She has seizures,” her brother told police.
“She doesn’t use any substances?” the officer asks in the video. No, the brother answered.
The officer notified the EMS that McKenney-Collier “may have a history of seizures.”
Corynne McKenney-Collier wears braces on both of her arms due to injuries from the encounter with the police as she talks to her lawyer Stanley King in Woodbury, N.J. on Friday, July 7, 2023.
Collier suffered from a seizure while driving this past May in Galloway Township, N.J. Police suspected a drug overdose. Allie Ippolito / Staff Photographer
At the hospital, McKenney-Collier was handcuffed to a bed under police guard, King said. Doctors determined that she had suffered a seizure and released her, according to her discharge papers. No charges were filed against her.
McKenney-Collier said she initially went to the police department looking for answers about what happened. She was stunned by the bodycam video, watching it about 30 times.
She wants an apology from police. She wants police to undergo more training to help them better handle medical emergencies.
“I felt horrible that they treated me like that,” she said. “None of them helped me.”
A Kendal man is walking the entire length of Hadrian’s Wall in memory of his partner who died from epilepsy.
Ewan Duff is walking 84 miles without stopping to raise money for SUDEP, Sudden Unexpected Death in Epilepsy, Action.
His partner Rachel Morgan died despite having no formal diagnosis for epilepsy. In January had a seizure during the night and died in hospital two days later.
Ewan explains how it took two post mortem’s to find out what happened to Rachel.
Ewan said: “So the doctors came back with an inconclusive result following Rachel’s passing and that was quite hard to hear because naturally you want to know what’s happened to your loved one.
“But following a second sort of post mortem it came back as something called SUDEP Sudden Unexpected Death in Epilepsy- although it’s a rare condition or rare cause of death it’s something i’d never heard of and neither had her family and it’s a very opened cause of death as well so it was very hard to hear.”
The challenge Ewan is undertaking will see him walk the entire length of the wall without stopping. Most people give themselves a week to complete the challenge but Ewan is hoping to do it in 30 hours.
He said: “It’s 84 miles it runs from Bowness-on-Solway to Walsend plan to do it hopefully within about 30 hours. I’m going to go as one whole walk and i want to push myself Rach would always be saying go hard or go home so that’s what i really want to do for it.”
“It provides research for medical professionals but it also provides bereavement support and counselling and also getting in touch with people in a similar situation.”
Ewan was keen to ensure Rachel knew of his plans for marriage shortly before she died.
He said: “Quite early on I was quite keen to get married to her. Unfortunately I didn’t quite manage to pop the question to her but in the hospital I did kind of propose to her with a makeshift bracelet and I hope that she kind of saw that.”
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