Tony and Kelly Mantoan, with their boys Teddy and Fulton, who both suffer from SMA, a genetic disorder that makes walking, swallowing, and breathing progressively difficult.
Kelly Mantoan was nursing her newborn son, Teddy, in the NICU in a Philadelphia hospital when her doctor came in and silently laid a hand on her shoulder. Immediately, Kelly knew what the gesture meant and started to sob: Teddy, like his one-year-old brother, Fulton, had just tested positive for a neuromuscular condition called spinal muscular atrophy (SMA).
The boys were 8 and 10 when Kelly heard about an experimental new treatment, still being tested in clinical trials, called Spinraza.
"We knew that [SMA] was a genetic disorder, and we knew that we had a 1 in 4 chance of Teddy having SMA," Mantoan recalls. But the idea of having two children with the same severe disability seemed too unfair for Kelly and her husband, Tony, to imagine. "We had lots of well-meaning friends tell us, well, God won't do this to you twice," she says. Except that He, or a cruel trick of nature, had.
In part, the boys' diagnoses were so devastating because there was little that could be done at the time, back in 2009 and 2010, when the boys were diagnosed. Affecting an estimated 1 in 11,000 babies, SMA is a degenerative disease in which the body is deficient in survival motor neuron (SMN) protein, thanks to a genetic mutation or absence of the body's SNM1 gene. So muscles that control voluntary movement – such as walking, breathing, and swallowing – weaken and eventually cease to function altogether.
Babies diagnosed with SMA Type 1 rarely live past toddlerhood, while people diagnosed with SMA Types 2, 3, and 4 can live into adulthood, usually with assistance like ventilators and feeding tubes. Shortly after birth, both Teddy Mantoan and his brother, Fulton, were diagnosed with SMA Type 2.
The boys were 8 and 10 when Kelly heard about an experimental new treatment, still being tested in clinical trials, called Spinraza. Up until then, physical therapy was the only sanctioned treatment for SMA, and Kelly enrolled both her boys in weekly sessions to preserve some of their muscle strength as the disease marched forward. But Spinraza – a grueling regimen of lumbar punctures and injections designed to stimulate a backup survival motor neuron gene to produce more SMN protein – offered new hope.
In clinical trials, after just a few doses of Spinraza, babies with SMA Type 1 began meeting normal developmental milestones – holding up their heads, rolling over, and sitting up. In other trials, Spinraza treatment delayed the need for permanent ventilation, while patients on the placebo arm continued to lose function, and several died. Spinraza was such a success, and so well tolerated among patients, that clinical trials ended early and the drug was fast-tracked for FDA approval in 2016. In January 2017, when Kelly got the call that Fulton and Teddy had been approved by the hospital to start Spinraza infusions, Kelly dropped to her knees in the middle of the kitchen and screamed.
Spinraza, manufactured by Biogen, has been hailed as revolutionary, but it's also not without drawbacks: Priced per injection, just one dose of Spinraza costs $125,000, making it one of the most expensive drugs on the global market. What's worse, treatment requires a "loading dose" of four injections over a four-week period, and then periodic injections every four months, indefinitely. For the first year of treatment, Spinraza treatment costs $750,000 – and then $375,000 for every year thereafter.
Last week, a competitive treatment for SMA Type 1 manufactured by Novartis burst onto the market. The new treatment, called Zolgensma, is a one-time gene therapy intended to be given to infants and is currently priced at $2.125 million, or $425,000 annually for five years, making it the most expensive drug in the world. Like Spinraza, Zolgensma is currently raising challenging questions about how insurers and government payers like Medicaid will be able to afford these treatments without bankrupting an already-strained health care system.
To Biogen's credit, the company provides financial aid for Spinraza patients with private insurance who pay co-pays for treatment, as well as for those who have been denied by Medicaid and Medicare. But getting insurance companies to agree to pay for Spinraza can often be an ordeal in itself. Although Fulton and Teddy Mantoan were approved for treatment over two years ago, a lengthy insurance battle delayed treatment for another eight months – time that, for some SMA patients, can mean a significant loss of muscular function.
Kelly didn't notice anything in either boy – positive or negative – for the first few months of Spinraza injections. But one day in November 2017, as Teddy was lowered off his school bus in his wheelchair, he turned to say goodbye to his friends and "dab," – a dance move where one's arms are extended briefly across the chest and in the air. Normally, Teddy would dab by throwing his arms up in the air with momentum, striking a pose quickly before they fell down limp at his sides. But that day, Teddy held his arms rigid in the air. His classmates, along with Kelly, were stunned. "Teddy, look at your arms!" Kelly remembers shrieking. "You're holding them up – you're dabbing!"
Teddy and Fulton Mantoan, who both suffer from spinal muscular atrophy, have seen life-changing results from Spinraza.
(Courtesy of Kelly Mantoan)
Not long after Teddy's dab, the Mantoans started seeing changes in Fulton as well. "With Fulton, we realized suddenly that he was no longer choking on his food during meals," Kelly said. "Almost every meal we'd have to stop and have him take a sip of water and make him slow down and take small bites so he wouldn't choke. But then we realized we hadn't had to do that in a long time. The nurses at school were like, 'it's not an issue anymore.'"
For the Mantoans, this was an enormous relief: Less choking meant less chance of aspiration pneumonia, a leading cause of death for people with SMA Types 1 and 2.
While Spinraza has been life-changing for the Mantoans, it remains painfully out of reach for many others. Thanks to Spinraza's enormous price tag, the threshold for who gets to use it is incredibly high: Adult and pediatric patients, particularly those with state-sponsored insurance, have reported multiple insurance denials, lengthy appeals processes, and endless bureaucracy from insurance and hospitals alike that stand in the way of treatment.
Kate Saldana, a 21-year-old woman with Type 2 SMA, is one of the many adult patients who have been lobbying for the drug. Saldana, who uses a ventilator 20 hours each day, says that Medicaid denied her Spinraza treatments because they mistakenly believed that she used a ventilator full-time. Saldana is currently in the process of appealing their decision, but knows she is fighting an uphill battle.
Kate Saldana, who suffers from Type 2 SMA, has been fighting unsuccessfully for Medicaid to cover Spinraza.
(Courtesy of Saldana)
"Originally, the treatments were studied and created for infants and children," Saldana said in an e-mail. "There is a plethora of data to support the effectiveness of Spinraza in those groups, but in adults it has not been studied as much. That makes it more difficult for insurance to approve it, because they are not sure if it will be as beneficial."
Saldana has been pursuing treatment unsuccessfully since last August – but others, like Kimberly Hill, a 32-year-old with SMA Type 2, have been waiting even longer. Hill, who lives in Oklahoma, has been fighting for treatment since Spinraza went on the U.S. market in December 2016. Because her mobility is limited to the use of her left thumb, Hill is eager to try anything that will enable her to keep working and finish a Master's degree in Fire and Emergency Management.
"Obviously, my family and I were elated with the approval of Spinraza," Hill said in an e-mail. "We thought I would finally have the chance to get a little stronger and healthier." But with Medicare and Medicaid, coverage and eligibility varies wildly by state. Earlier this year, Medicaid approved Spinraza for adult patients only if a clawback clause was attached to the approval, meaning that under certain conditions the Medicaid funds would need to be paid back. Because of the clawback clause, hospitals have been reluctant to take on Spinraza treatments, effectively barring adult Medicaid patients from accessing the drug altogether.
Hill's hospital is currently in negotiations with Medicaid to move forward with Spinraza treatment, but in the meantime, Hill is in limbo. "We keep being told there is nothing we can do, and we are devastated," Hill said.
"I felt extremely sad and honestly a bit forgotten, like adults [with SMA] don't matter."
Between Spinraza and its new competitor, Zolgensma, some are speculating that insurers will start to favor Zolgensma coverage instead, since the treatment is shorter and ultimately cheaper than Spinraza in the long term. But for some adults with SMA who can't access Spinraza and who don't qualify for Zolgensma treatment, the issue of what insurers will cover is moot.
"I was so excited when I heard that Zolgensma was approved by the FDA," said Annie Wilson, an adult SMA patient from Alameda, Calif. who has been fighting for Spinraza since 2017. "When I became aware that it was only being offered to children, I felt extremely sad and honestly a bit forgotten, like adults [with SMA] don't matter."
According to information from a Biogen representative, more than 7500 people worldwide have been treated with Spinraza to date, one third of whom are adults.
While Spinraza has been revolutionary for thousands of patients, it's unclear how many more lives state agencies and insurance companies will allow it to save.
The process of finding the right gift for your favorite life science lover can be daunting. Here's a roundup of the coolest bio-products related to health, nutrition, gaming, lifestyle and more.
AYO Circadian Light Therapy Wearable
We don’t hear it tick, but we have our own clock inside our body–more precisely, circadian clocks. Our cells contain tiny molecular clocks that keep track of our circadian rhythms, or our sleep and metabolism pattern and activity levels, on a daily basis. Chronic circadian disruptions can lead to sleep disorders, poor energy levels, weight gain, lousy mood, and sped-up aging, as well as increased risk for every “modern” disease out there, from diabetes to cancer.
Now, high-tech glasses have been developed that attempt to mimic the benefits of sunlight. In the morning and afternoon, these glasses shed blue light into your eyes to stimulate the master clock at the base of your brain for less drowsiness. The technology's design draws from an area of research, chronobiology, that received a Nobel Prize in 2017 and has become increasingly active in recent years.
“We have been developing and testing the AYO Circadian Health solution for the past five years in collaboration with some of the world's leading experts and researchers in chronobiology, light therapy and health,” said Alexander Dimitrov, co-creator of AYO. “We have done studies with over 25,000 participants, and over one million light sessions,” Dimotrov continued, partnering with institutions such as Mount Sinai Hospital, City of Hope and the U.S. Department of Defense.
The technology could fundamentally reshape the way we view sleep, health and our daily calendars. And, when connecting to a mobile app, the glasses could minimize circadian disruptions for travelers between conflicting time zones.
($269)
myDNAge Test
It's not easy for many people to break free of their attachment to the concept of chronological age, which counts years by how many times we’ve circled the sun since the day we were born. Society lumps us all into one age bracket according to our date of birth but, lately, research is suggesting that we should do some serious deconditioning. According to these studies, the more accurate measure is your biological age, a measurement based on various biomarkers of the body’s overall health and resilience, regardless of your calendar age.
If you want to find out your “true” biological age, myDNAge is a test that focuses on epigenetics, or patterns of changes in DNA methylation, with some initial research pointing to its accuracy. It offers a snapshot of your epigenetic age as well as key biomarkers related to your metabolism, risk of Alzheimer's and more, according to Xiaojing Yang, group leader of epigenetics at myDNAge. “You can perform tests six to 12 months [apart] to track the impact of lifestyle changes,” Yang said. The kit could be a useful tool both for citizen scientists and biohacking veterans.
($299 for one kit–Use code NEWYEARNEWME to receive 50% off a second kit)
Prairie Sky Yak Cheese
Do you love cheese? Do you love exotic cheese? Do you have an interest in preserving biological and genetic diversity? If you answered yes to all three questions, yak cheese was made for you. This type of cheese typically comes from a free-range yak living 13,000 feet above surface level in the Tibetan Himalayas, a relative of the endangered Wild yak. (North America is home to at least 5,000 registered yaks.)
“When I learned that we had a piece of rare biodiversity to be preserved for future generations, I realized that the yak in North America needed a job,” said Nicole Geijer Porter, president of World Heritage Yak Conservancy (WHYC), an organization formed to protect heritage yak “If an animal cannot be beneficial to the rancher in some way, exclusively as pets and lawn ornaments, they will go extinct. Raised for meat they are often hybridized with cattle to grow bigger and faster, so they will also go extinct,” said Porter, an epigeneticist turned yak herder.
Each slice of cheese and piece of butter supports the genetic testing and tracking of Tibetan yak. (You can become a member of WHYC through the Adopt-A-Yak program). “This project is also of biological importance because of the low methane emission research on yak, and the high nutritional content of the milk and cheese,” said Porter.
As for flavor, the Prairie Sky Yak Gruyere is a semi-hard cheese with a nutty taste sometimes compared to chocolate; Tomme de Savoie is a semi-soft Alpine cheese reminiscent of a washed rind muenster; and the Yak Cheddar is made with yak milk following the classic English recipe from Wells Cathedral, with earthly and pungent flavors.
(Various prices; $59.95 for the Three Yak Cheese Flight Gift Box, $139.95 for the Regional Himalayan Yak Cheddar Gift Basket and more)
Bite Toothpaste Bits
The price of a healthy smile is steep. Each year over one billion plastic toothpaste tubes are thrown out, over 50 Empire State Buildings worth of these tubes end up in landfills or oceans, and many animals suffer and die each year in cruel tests for improving oral care in people.
Sustainable oral care is both an act of self-love and giving back to the environment. Bite is a toothpaste that boasts about its green practices for a reason: it uses recyclable glass bottles with aluminum lids that break down into sand after they’ve been used. For shipping, Bite uses kraft envelopes padded with recycled and compostable newspapers, and its boxes are made of fully recycled, corrugated cardboard and sealed with paper tape. Bite refills come in 100% home compostable pouches every four months (still no plastic).
Sustainability aside, there may be an element of fun to Bite – as you brush, a mint foam forms “like magic,” the company claims.
Fractional Laser Treatment for Skin
The environment is hard on our skin: from ultraviolet rays to pollution, a constant oxidative war is waged upon it, leading to loss of collagen and damage to the barrier function of the skin. A fractional laser treatment is a type of laser skin resurfacing procedure that essentially traumatizes the skin – in a good way - through subjecting a small area of it to tiny amounts of laser energy. The laser penetrates the second layer of skin, the dermis, leading to skin exfoliation, which stimulates collagen and elastin production.
The treatment may help with soothing acne scarring, correcting uneven skin tone and texture, and reducing wrinkles and fine lines, sun damage and age spots. Recent research suggests the fractional laser can help with improving skin elasticity and reducing the amount and depth of wrinkles, though there’s little to no evidence for any benefits for eyebags, dark circles, discolorations within the eye area and water retention.
(Typically, a single fractional laser treatment costs $750 for a small area, $1500 for a full facial treatment, and $2000 for full face.)
Gadgets and Apps to Measure Your Heart Rate Variability
Heart rate variability may sound like a condition that requires immediate medical treatment, but the more you have of it, the better for your health. Although you may think of the heart as a steadily beating metronome, there are actually small differences in the amount of time between each beat. These differences are called HRV, and having more HRV has been linked to better fitness and fewer diseases.
HRV is easy to measure with a range of gadgets on the market, including Fitbits and Oura Rings. Which product floats your boat is a matter of personal preference, but the Polar H10 chest strap offers some advantages. For example, you can measure your HRV with the Polar H10 while walking around, unlike some devices that require you to stay still while taking a reading.
Plus, the Polar sensor pairs with free apps such as Elite HRV that are great for tracking how your HRV changes over time. "HRV really helps you gauge if you're moving in a positive or negative direction" with your health, says Jason Moore, the CEO and founder of Elite HRV and Spren. Have fun experimenting over the holidays with different lifestyle habits that are associated with higher HRV, some studies show, such as intermittent fasting, regular exercise and just getting more sleep.
($89 for the Polar H10, $0 for the Elite HRV app)
FoodMarble AIRE2
Its predecessor, FOODMarble AIRE1 was a pocket-size breath-testing device that measured hydrogen on the breath. More hydrogen means less digestion, and the AIRE1 used advanced breathalyzer technology to figure out what exactly is going on with the gut. Now, the company has launched FoodMarble AIRE2, which also measures methane alongside with hydrogen. High levels of methane in the body may cause abdominal pain, bloating and constipation, cirrhosis of the liver and chronic pancreatitis. The AIRE2 also comes with haptic feedback to make it easier to use.
Research suggests that these breath tests are valid as at-home diagnostic tools for many digestive conditions. To get the most accurate results, though, it’s important to closely follow the recommended protocol - for example, you can’t eat or drink anything for 10 to 12 hours before the test.
($229)
Adventurist Backpack’s Classic Backpack
The Classic backpack is a perfect option for life science aficionados who enjoy getting outside and exploring in nature. Padding in the front and back provides extra protection for camera gear, laptop, and other electronics, and it's completely water-resistant so you can get outside in winter weather.
Nobility points: Adventurist Backpack Co. is partnered with national non-profit Feeding America, and every backpack sold helps provide 25 meals to families in need across the U.S.
($65)
This Saves Lives
Speaking of nobility points, you could load your new backpack with a food choice that helps feed others as well. In 2013, actors Kristin Bell, Ryan Devlin, Ravi Patel and Todd Grinnell teamed up to start This Saves Lives, which makes power bars full of vitamins and nutrients, and the company has a unique business model: for every bar you buy, a packet of food is sent to a child in need. In addition to offering essential nutrients, the bars are non-GMO, kosher and gluten-free. Note: This Saves Lives is owned by the same company, GOOD Worldwide, that owns Leaps.org.
(Wild Blueberry & Pistachio bars, $23.99)
NADI X Pants
Even if you’re a yoga zealot enjoying the benefits to your strength, balance and flexibility, chances are you're performing the movements sort of askew. Wearable technology wants to improve your yoga posture and these sleek yoga pants called NADI X have subtle electronic sensors that track how you place your hands, rotate your hips, and align your back. The leggings use haptic feedback (or vibrations on your skin) to slowly guide you into correct alignment. You can also combine the wearable with an app that contains 40 poses and fitting music. Even if you aren't into yoga, you could use the pants for a perfect stretching session. If you do use it for yoga poses, the pants will “speak” to you, letting out a soothing "om" sound once everything is perfect.
Meta Quest Pro VR headset
When it comes to perfecting virtual reality (VR), the Meta Quest Pro VR headset is one step ahead the rest. In a vibrant 3D virtual space, your Meta avatar has the ability to translate your real-life facial expressions into the virtual realm so the experience can feel more personal, while controllers track your movement and use haptic feedback to translate your hand gestures and finger actions into VR as well. Unlike its Quest 2 headset, Meta markets this Quest Pro headset, which was just released in October, as a great tool for work and business meetings, but you can also use it to play games, watch movies, or download fitness apps or mental-health related apps – some of which are designed to help you get boxing workouts with long-distance friends, fight your fear of heights or meditate in outer space.
Rouge Sur Mesure Custom Lip Color Creator
Beauty and artificial intelligence (AI) complement each other well in the new Yves Saint Laurent lip personalized color – which wants to put the final nail on the coffin of generic lipsticks. This is a lipstick printer at its core. You pair a device to your smartphone and then insert three lipstick cartridges into the base, each of which comes with a color palette (all four could create up to 4,000 lipstick shades). Particularly charming is the fact that you can take a photo of your outfit, and the app will suggest shades that match or clash it.
($299, cartridges $89 each)
Dairy-Free Cream Cheese and Meatless Breakfast Patties
On the environmental front again, meatless patties and dairy-free cream cheese constitute conscientious and delicious choices for vegans, vegetarians and pretty much anyone else. Chicago-based Nature's Fynd is worth checking out. It uses a microbe named Fusarium strain flavolapis, which has origins in an acidic hot spring at Yellowstone National Park.
“We use this remarkable microbe to grow Fy — a nutritional fungi protein that’s made into a wide variety of delicious and sustainable foods,” says Karuna Rawal, Nature’s Fynd CMO. Fy is grown via a breakthrough fermentation process using a fraction of the water, land, and energy compared to traditional protein sources.
It’s a sustainable way to grow food for Earth’s population,” but Nature’s Fynd isn’t just concentrating on Earth. The company recently partnered with NASA to send Fy to space. “As long as there’s an appropriately controlled environment, we can grow Fy anytime, anywhere. It could be a nutritious food source for astronauts on deep space missions," said Rawal.
CBD Oil
Biologically curious people may be especially interested in trying cannabinoid (CBD) oil. CBD is a natural and safe substance found in cannabis, which has been found to tackle anxiety and depression, reduce symptoms of post-traumatic stress disorder, help manage chronic pain and migraines, improve sleep patterns, and keep panic attacks at bay. Kanibi’s Isolate CBD Oil Tincture is a good choice as it is cinnamon-flavored and made in an FDA-inspected facility.
($109--25% off on your first order)
Govee RGBIC Floor Lamp
Another winner for anyone who's been hearing about the health benefits of obeying your circadian rhythms: "RGB" lights, or red-green-blue lights that can be operated by remote control to shine bright blue light during the day and then, with a few touches of your phone, bathe you in warmer, red light to get you ready for bed. Look for RGB bulbs to stick into the light fixtures you already have, or you could opt for the Govee floor lamp that syncs with an app on your phone (or Alexa) for circadian color changing. You can also put it on party mode and watch it shift across 16 million color shades in response to the rhythms and beats of Cuddle Up, Cozy Down Christmas and Hanukkah Oh Hanukkah.
($99)
PackPoint
If you suffer from packing anxiety (or incompetence), an app may take away the pain. PackPoint is an app that builds your packing list according to trip type, activities and weather. You add your trip details, select activities (fancy dinner, business meeting, or even workout are some examples), and PackPoint tells you what you need to bring to your destination. The app is free, but upgrading to Premium for a small fee lets you add your own activities and packing list items.
(Free, Premium Package $2.99)
Eternity Rose
Roses symbolize love, passion, innocence, friendship, and the disarming power of natural beauty. They wilt fast, though, and their spectacle is an unsettling reminder of the fragility of beauty and existence. Unless you dip the rose in 24 karat gold.
The Eternity Rose is put through an intricate three-month process of electroplating, or coating the rose with copper and then with other metals in micro-thin layers. You won’t have to see your flowers sag after a few days because these roses never die. The glitter of gold atop the natural rose (or platinum or silver–whatever you prefer) will fit right in with the Christmas Eve ambiance.
($169 for the gold rose)
