Health
A family is racing to raise $2.5 million to save their toddler, who suffers from an ultrarare neurological disorder that turns babies into ‘human time bombs’
|
|
Mary Saladino spends most of her days holding her son in her arms while he violently seizes, whispering to him as she frantically tries to save his life. Nearly every day she witnesses her baby waver on the brink of death, not breathing and often paralyzed.
Her 3-year-old son, Henry, suffers from alternating hemiplegia of childhood, or AHC, a rare neurological disorder whose patients are referred to as “human time bombs.” At any moment, Henry can stop breathing, have a life-threatening seizure or become paralyzed – and there’s no way to know when it will happen or if he will survive.
No treatment or cure exists for AHC, which affects one in a million people globally, according to AHC expert and neurologist Dr. Kathryn Swoboda, and families of patients with this unpredictable disease never stop watching for signs of an oncoming episode. As soon as it strikes, they must act quickly to administer lifesaving measures.
“When you’re feeling that fear you’re going to lose your child, you have to be thinking what would I want to give him as his mom if this is it? I want him to hear how much we love him, but also oh my God, I have to save him, what’s his oxygen level? Do I need to resuscitate him? Did I give the first dose of rescue medication?” Saladino told CNN. “It’s an unbelievable amount of trauma and it’s going to happen over and over again, no matter what we do, until we develop this treatment.”
Despite its name, AHC does not affect people only during childhood. It only worsens with age, according to Swoboda, with patients often losing most of what they learned as children, such as walking, talking and eating independently.
In 2022, Mary and her husband Anthony launched the nonprofit foundation For Henry to raise $3 million for a genetic treatment that, if successful, could be the first to treat AHC and pave the path for others living with the disorder to receive treatment.
Through their foundation and GoFundMe fundraiser, the Saladinos are raising the remaining $2.5 million needed to design from scratch an antisense oligonucleotide, or ASO treatment, which would knock down the toxic impact of a genetic mutation that is causing the dysfunction in Henry’s brain.
The family is racing to develop and administer the treatment before Henry’s brain is irreversibly damaged during one of his spells. This risk increases every time Henry survives another seizure in which he stops breathing on his own – sometimes for up to 15 minutes – or experiences paralysis that can last for days at a time, his neurologists say.
“We have reached a point where, as a clinician, I am unable to provide Henry with a better option to try and prevent him from having more seizures or episodes,” Dr. Christelle Achkar, Henry’s neurologist, told CNN. “Henry is one of those children who are at higher risk of premature death due to their condition, and if they survive, there is always a concern of potential for severe regression. This is his only chance.”
If it works, according to Swoboda, this would also establish proof of concept that this type of therapy might be developed to treat several other neurological syndromes caused by mutations in the same gene – including a rare type of Parkinson’s disease.
“While this is about Henry, it is also about many other patients whose lives can be impacted by this therapy,” Achkar said.
What AHC does and how an ASO treatment can help
In one instant, Henry is dancing and singing as his parents dress him in pajamas. Suddenly, he goes limp, half of his body paralyzed and the other half violently convulsing as his parents rush to administer drugs and oxygen.
Many things can trigger the episodes, such as a bath or sunlight, but especially moments of stress or excitement. Holidays, birthdays and even play dates can be too overwhelming, Henry’s parents say, and they have to watch him transition from delight to suffering at their happiest moments.
“AHC is the worst disease I have ever worked with in terms of the level of stress, for both parents and physicians. Episodes can strike at any time, and it is not readily clear when an episode is going to be catastrophic and require a hospital visit or urgent intervention,” Swoboda, Henry’s former neurologist, told CNN.
“They have to reconsider everything,” she added. “You can’t take them to a mall with bright lights and excitement. If you take them to a swimming pool and it has cold water, they might go down. If they get too excited before their therapist is going to come over, they get paralyzed and can’t do their therapy.”
AHC can be caused by 163 different mutations in the ATP1A3 gene, but three mutations, including the one that Henry has, account for 75% of cases, according to Swoboda. The ATP1A3 gene encodes a sodium potassium pump critical for maintaining a normal electrical gradient in all neurons in the brain. It is vitally important.
“It’s like your power goes off in your house and you have a backup generator, but your backup generator isn’t working so well,” Saladino said. “We see the disease manifest at moments when Henry’s tank is running low. It could be when he’s too hot, tired from climbing upstairs, or he’s hungry or his brain was working too hard during therapy.”
Because of the faulty pump, Swoboda says, having AHC is like having seven neurological conditions at once: paralysis similar to a stroke, seizures like epilepsy, low muscle tone like cerebral palsy, movement problems like Parkinson’s, neurodegeneration like Alzheimer’s, behavioral issues similar to attention-deficit/hyperactivity disorder and behavioral challenges like autism.
Henry, who suffers from the most severe mutation, has a significant speech delay. He is able to understand everything being said to him but struggles to produce words. He also has significant gross motor and fine motor delays, meaning he can’t walk on his own and struggles to perform tasks like using utensils.
While AHC foundations are currently pursuing other strategies including gene therapy and gene editing, nothing has been developed yet and an ASO treatment is still Henry’s quickest and best chance to slow the inexorable progression of this disease, his neurologists say.
ASO’s are short strings of nucleotides that can be imagined as small strings of DNA or RNA letters that can interfere with RNA processing. They work by either helping the body create missing good protein or by knocking down toxic protein, according to the Yu Lab, a research laboratory run by Boston Children Hospital neurologist Tim Yu.
“For his exact mutation, if you think about DNA, you have two copies of everything. He has one good copy and one abnormal copy. Not only is his bad copy improperly functioning, it’s also preventing the healthy copy from functioning properly,” said Achkar, a neurologist at Boston Children’s Hospital and an expert in designing and conducting clinical trials involving ASOs. “A knockdown ASO would target the abnormal copy of the gene, by preventing it from turning into the abnormal protein, without affecting the healthy copy.”
Henry’s current and former neurologists are optimistic that an ASO treatment could be successful in eliminating or dramatically minimizing Henry’s frequent episodes and allow him to resume a healthy and normal developmental trajectory.
A treatment that could make history
Through their foundation For Henry, the Saladinos are operating as a biotech company by pushing research, hiring scientists and working with laboratories to develop the drug from scratch.
Although Henry would be the first with AHC to receive a treatment, parents of children with the rare disease have provided tremendous support in driving research to develop the drug for Henry.
“While Mary is driving the bus, the AHC community is working together to support the effort,” said Nina Frost, whose daughter Annabel has AHC and was the inspiration behind their family’s nonprofit, Hope for Annabel.
“If Mary – and Henry – can prove that an ASO works in an AHC patient, they will be providing a tremendous service to the entire community,” Frost said. “Mary is taking on an incredible burden of risk, and much of the burden of cost, for Henry but also on behalf of the other patients in our community.”
Using the money raised so far, scientists have developed all of the potential candidate ASOs, and a team of researchers led by pharmacologist Dr. Alfred George at Northwestern University is currently testing them in Henry’s neurons to determine the most effective ASO.
Scientists with the Rare Disease Translational Center at The Jackson Laboratory will then test ASOs in a mouse model that has the exact same mutation as Henry and also has similar symptoms. Scientists will inject the ASO into a cohort of these mice to see which symptoms they improve and how well they improve them.
After toxicology and animal testing to discover any safety risks, the chosen ASO will then be injected into Henry’s spinal fluid.
“The biggest risk is unpredictable side effects, but that’s why so much time and money is being spent on pre-clinical drug development to test for all potential toxicities until we can be as sure as possible that it is safe for Henry,” Achkar said.
This process of developing the treatment cannot continue without the remaining $2.5 million, which the family must raise on their own.
“Pharmaceutical companies aren’t as interested in helping if there’s a much fewer number of cases, so when you’re talking about an ultrarare condition like AHC, it’s not going to be profitable for pharma,” Swoboda said.
Once they have raised the money, according to Swoboda, it is expected to take between 12 to 18 months to complete all testing and hopefully treat Henry.
“I think he’s still young enough to benefit, but if he has to wait another five years it might be too late to make a substantial difference,” Swoboda said. “You’re going to completely change his destiny. We have to do something.”
If the ASO treatment works, it could very likely treat others with AHC who share either the same mutation or same variant as Henry, according to Achkar. For anyone with AHC, this could prove an ASO can work to treat the disease.
Because the gene is associated with 10 other severe neurological diseases, this ASO treatment targeting the ATP1A3 gene could prove that an ASO may be able to treat these conditions too.
‘It is killing us all slowly’
When asked what she loves about Henry, Saladino laughs as she describes his giggle and love for dancing and books. He is known for his long locks and giving people kisses the moment he meets them. Every time he wakes up from a seizure, he searches the faces around the room to find his mom’s and immediately gives her a kiss.
“Henry is the love of our life,” Saladino said, her laughter turning to sobs. “He is a beautiful child inside and out. I don’t want to imagine a life without him in it.”
Saladino regularly shares photos and videos on social media showing the heartbreaking nature of Henry’s condition, especially during episodes in which he is seizing or not breathing, to raise awareness on the reality of living with AHC without treatment.
Today, Henry can experience up to 30 seizures a day, most of which cause him to stop breathing. The symptoms can strike at any moment including when he is sleeping.
His family cannot go anywhere without his emergency bag, which contains oxygen, a device for resuscitation and rescue medication for seizures and paralysis, which don’t always work.
For the first time in three years, Saladino now sometimes drives with Henry but only to preschool, her eyes always jumping from the road to her rear view mirror in case he is on the verge of a seizure.
Although she has nurses that help watch Henry, she finds herself unable to rest – her showers last no more than a few minutes, and when he is at preschool, her fingers are glued to her phone in anticipation of the dreaded call that Henry is having an episode.
But somewhere in the middle of incessant seizures and emergencies, the Saladinos have found joy.
“There’s beauty in that, those moments of in between, if we are having a good day or a good hour, and it’s a beautiful sunny day, we’re going to spend it at the beach or lake and be grateful for even one or two hours he doesn’t experience an episode,” Saladino said. “It’s beautiful and brutal at the same time. Every single thing that Henry does or endures, it feels miraculous and terribly tragic at the same time.”
Despite the beautiful memories the Saladinos share together, they are haunted by the unnerving shadow looming over them.
It could happen today, or tomorrow, or in the next minute: the episode that leaves Henry with permanent brain damage that no treatment could fix.
“What we are dealing with is something evil, a terrorizing disease that makes us watch our baby suffer, never being able to do anything to truly save him,” Saladino said. “It is killing us all slowly and it won’t stop killing us until we have a treatment.”
The list of ways a COVID-19 infection disrupts the body’s natural functions is long and diverse, and, as Viktorya Skrypnyk’s clients have come to learn, includes hair loss.
Skrypnyk is a registered nurse who owns and operates VBeauty Spa, a medical aesthetic clinic in Toronto. The last two years have sent a parade of people through the doors of her clinic struggling with hair loss they say began after a COVID-19 infection.
“Lately, I do see that there’s people that are coming in that have no history of hair loss in the family, no history of alopecia that are developing these symptoms of alopecia within last few years,” she told CTVNews.ca on Friday. “Most of them are saying that they generally noticed an increase in the year loss specifically after acquiring COVID.”
Multiple published studies have shown COVID infections can trigger a type of hair shedding called telogen effluvium (TE). With TE, thinning typically occurs around the top of the head.
When clients suffering from TE come to Skrypnyk, it’s usually for a treatment she offers known as platelet-rich plasma (PRP) therapy. Before the pandemic, Skrypnyk estimates 70 per cent of her PRP therapy clients were men. Now?
“Lately I’ve noticed, after COVID especially, it’s been more popular among women,” she said.
WHAT IS PRP THERAPY?
Platelet-rich plasma therapy is a form of regenerative medicine that uses a patient’s own blood cells – specifically platelets – to accelerate healing in a specific area of the body.
Plasma is the liquid portion of blood; the medium that carries red and white blood cells and platelets through the body. It’s made mostly of water and proteins. Platelets are blood cells that aid in blood clotting and contain a naturally-occurring substance called growth factor, which stimulates cell growth and wound healing.
In PRP therapy, a patient’s blood is collected and spun in a centrifuge to concentrate the platelet component of the blood. The patient’s own platelet-rich plasma is then injected into an area of the body that needs help with growth or healing, like an injured muscle or, in some cases, a scalp losing hair.
“We usually withdraw the platelets and re-inject them back into the hairline, specifically where there’s a lot of hair loss,” Skrypnyk said.
PRP meets the definition of a drug under Canada’s Food and Drugs Act, but isn’t covered by provincial health insurance plans. At VBeauty Spa, a treatment typically costs $600, though other clinics may charge more or less.
According to an entry by doctors Neera Nathan and Maryanne Makredes Senna in the Harvard Health Blog, most of the research on PRP for hair loss has looked at its use to treat androgenetic alopecia, also known as hormone-related baldness. Androgenetic alopecia affects both men and women, resulting in balding at the crown and front of the head in men, and balding that begins with a widening of the part in women.
“There is not enough evidence to make conclusions about the effectiveness of PRP for other types of hair loss, like telogen effluvium, alopecia areata or forms of scarring hair loss,” Nathan and Senna wrote.
YOUR MILEAGE MAY VARY
A person can elect to receive PRP therapy for any type of hair loss, but Dr. Jeff Donovan cautions it should only be considered as a second- or third-line treatment for most patients and most types of hair loss.
“PRP is very popular, but the overwhelming message that I would have is that there is no hair loss condition for which PRP is the first-line option,” Donovan told CTVNews.ca in a phone interview on Friday.
Donovan is a dermatologist and member of the Canadian Dermatology Association who specializes in hair loss. Like Skrypnyk, he sometimes treats patients using PRP therapy. However, he rarely uses it to treat the type of hair loss most commonly linked to COVID-19 infections – telogen effluvium – and he never prescribes it as a first-line treatment.
For one thing, he explained, TE normally resolves on its own after four to eight months, as long as the condition that triggered it has resolved. It often doesn’t respond to the typical hair loss treatments.
“Telogen effluvium is a hair loss condition that happens due to a trigger,” Donovan told CTVNews.ca on Friday. “The treatment for telogen effluvium involves treating the trigger, not a bandaid with some other treatment plan.”
If a patient’s TE was triggered by low iron, treatment would involve restoring their iron levels, he said. Likewise, TE triggered by a thyroid condition, or a condition like anorexia nervosa, should resolve after the underlying condition has been treated.
In rare cases, Donovan will recommend PRP therapy for a patient suffering from TE for which an underlying cause can’t be pinpointed. More often, he’ll recommend it for patients suffering from other types of hair loss, but even then, only after exhausting other treatment options.
“When we speak about treatment for hair loss, we must speak about what is the first line treatment, what is the second line treatment and what is the third line treatment,” he said. “These are treatment ladders according to evidence-based medicine.”
For a client with alopecia areata, a type of hair loss that results in circular bald patches, Donovan said the first-line treatments are topical steroid injections and topical minoxidil, which is the active ingredient in Rogaine. For genetic hair loss or androgenetic hair loss, Donovan would first recommend oral and topical minoxidil as well as topical and oral anti-androgens.
Among clients who do end up using PRP therapy, Donovan said between 20 and 40 per cent will see mild benefits, such as a slower rate of hair loss or some modest growth. In order for PRP therapy to provide long-term benefits, however, Donovan said clients typically need to return for treatments three times per year, indefinitely.
Like Skrypnyk, Donovan has noticed more people seeking out PRP therapy for TE in the past year or two. However, he cautions against shelling out for the treatment before speaking to a doctor.
“Due to the popular nature of PRP and the marketing that goes into PRP, there has been an increase in the number of patients demanding that therapy,” he said. “However, that is not necessarily reflective of the benefit of the treatment. Nor is it reflective of how these conditions should be managed based on current scientific evidence.”
Instead, Dovovan said anyone who has hair loss concerns should start by seeking a diagnosis from their usual health-care provider, who can screen for underlying triggers and suggest treatments.
“In my practice, I really prefer when patients come after having tried several therapies,” he said, “because then I get a sense of how well the hair is responding to certain types of treatments.”
A drug-resistant and potentially deadly fungus is spreading rapidly through US health facilities, according to a government study.
Researchers from the Centres for Disease Control and Prevention (CDC) reported the fungus, a type of yeast called Candida auris or C. auris, can cause severe illness in people with weakened immune systems.
The number of people diagnosed, as well as the number who were found through screening to be carrying C. auris, has been rising at an alarming rate since the fungus was first reported in the US in 2016.
The fungus was identified in 2009 in Asia, but scientists have said C. auris first appeared around the world about a decade earlier.
Dr Meghan Lyman, chief medical officer of the CDC’s mycotic diseases branch, said the increases, “especially in the most recent years, are really concerning to us”.
“We’ve seen increases not just in areas of ongoing transmission, but also in new areas,” she said.
Dr Lyman also said she was concerned about the increasing number of fungus samples resistant to the common treatments for it.
Dr Waleed Javaid, an epidemiologist and director of infection prevention and control at Mount Sinai Downtown in New York, said the fungus was “worrisome”.
“But we don’t want people who watched ‘The Last Of Us’ to think we’re all going to die,” Dr Javaid said.
“This is an infection that occurs in extremely ill individuals who are usually sick with a lot of other issues.”
Read more:
Is The Last Of Us’ real ‘zombie’ fungus an actual threat?
The fungus, which can be found on the skin and throughout the body, is not a threat to healthy people.
But about one-third of people who become sick with C. auris die.
The fungus has been detected in more than half of all US states. The number of infections in the US increased by 95% between 2020 and 2021.
Read more:
Species of fungus discovered in Scotland
Fungal infections ‘increased significantly’ during COVID pandemic
The new research comes as Mississippi is facing a growing outbreak of the fungus.
Since November, 12 people in the state have been infected with four “potentially associated deaths”, according to the state’s health department.
|
|
Possible cases of bird flu have been found in Caledon as potential outbreaks of the virus are popping up in Brampton and across southern Ontario.
The City of Brampton issued a warning about two possible avian flu incidents on Friday after dead birds were found in the area of Professor’s Lake and Duncan Foster Valley South.
Now the Town of Caledon says a number of dead birds have also been found in a pond near Coleraine Dr. and Harvest Moon Dr. and that the deaths may be related to bird flu.
The Town has closed a trail in the area out of precaution and says testing is being conducted by the Canadian Wildlife Health Cooperative to determine the birds’ cause of death.
Peel Public Health says that while avian influenza is a threat to birds, the risk to humans is very low.
“Most cases of human avian flu have been traced to handling infected poultry or their droppings,” said Dr. Nicholas Brandon, acting Medical Officer of Health for PPH. “Residents are asked to follow the recommended guidance to limit the spread of avian flu and protect the health and safety of residents and pets.”
Peel Public Health is recommending residents and pet owners are asked to take the following precautions:
- Keep animals away from any waterfowl or fecal matter
- Do not feed or otherwise interact with the waterfowl
- Keep cats indoors
- Keep dogs on a leash (as required under the municipal by-law)
- Do not feed pets (e.g., dogs or cats) any raw meat from game birds or poultry
- Pet birds, if not normally kept indoors, should be restricted to the indoors
- Bird feeders should be removed or washed with soap and water frequently to reduce the chance of bacterial or viral contamination
The cause of the birds’ death in all three of the cases in Peel has not been confirmed but Brampton Animal Services is actively monitoring the areas.
If the birds test negative for Avian Influenza a full necropsy will be conducted to determine the cause of death, the City of Brampton said on Friday.
Last week the Toronto Zoo shut down some of its bird enclosures after an avian flu case was detected at a southern Ontario poultry farm.
A highly pathogenic type of H5N1 avian flu has been tearing through Canadian flocks since early 2022, killing millions of birds and infecting a record number of avian species.
The Canadian Food Inspection Agency detected a case at a commercial poultry operation southeast of Hamilton on Tuesday, the second reported Ontario site in a week after a lull in detected cases going back to the end of December.
With files from The Canadian Press
-150x150.jpg.webp)
Canadian momentum build continues at women's curling worlds with wins over Italy, Scotland – CBC.ca
City of Pointe-Claire signs a partnership agreement with Sport'Aide – Pointe-Claire
COVID-19 hair loss: Experts weigh in on PRP therapy – CTV News
-
Media17 hours ago
Elon Musk roasted for bizarre social media posts about Taylor Swift: ‘Stay away from her’
-
Sports20 hours agoQuick Reaction: Raptors 111, Bucks 118
-
Business18 hours ago
Investors punish UBS after Credit Suisse rescue, shares plummet
-
Science19 hours ago
Scientists Identify Intense Heatwaves At The Bottom Of Ocean
-
Tech13 hours ago
YouTuber Spends $22,000 to Buy Every Wii U and 3DS Game Ahead of Nintendo eShop Shutdown
-
Politics21 hours ago
Algorithms are moulding and shaping our politics. Here’s how to avoid being gamed
-
News16 hours ago
Biden’s Canada visit is long overdue, expert says
-
Business20 hours ago
UBS to buy Credit Suisse in effort to create stability, Swiss president says
