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It is said that every newborn faces a potential risk until the baby has been screened for <keyword id="1144427" type="UNKNOWN" weightage="100" keywordseo="medical-conditions">medical conditions</keyword>. A <keyword id="2024251" type="UNKNOWN" weightage="100" keywordseo="Genetic-screening">genetic screening</keyword> of the newborn means enhanced <keyword id="2024262" type="UNKNOWN" weightage="100" keywordseo="Biotechnological-capacity">biotechnological capacity</keyword>, which ensures fast, accurate and expanded testing going beyond routine disorders. <keyword id="2024252" type="UNKNOWN" weightage="100" keywordseo="Newborn-screening">Newborn screening</keyword> (<keyword id="116258" type="ORGANIZATION" weightage="100" keywordseo="NBS">NBS</keyword>) has been made compulsory in 52 countries across the world, bringing down <keyword id="153995" type="UNKNOWN" weightage="100" keywordseo="infant-mortality">infant mortality</keyword> and disabilities in children. 
 Simply put, newborn screening (NBS) programme includes testing every newborn soon after its birth, to identify serious or life-threatening conditions which may lead to mental/physical retardation or even early death. The affected baby looks healthy at birth as there is no external defect and these disorders cannot be diagnosed until specifically tested for. However, India is yet to implement a <keyword id="2024264" type="UNKNOWN" weightage="100" keywordseo="National-newborn-screening-programme">national newborn screening programme</keyword> even though 5-15% of newborns fall prey to <keyword id="120871" type="UNKNOWN" weightage="100" keywordseo="Metabolic-disorders">metabolic disorders</keyword>. 
 Understandably, not too many Indian start-ups operate in the NBS space and the <keyword id="49685" type="UNKNOWN" weightage="100" keywordseo="Genetic">genetic</keyword> screening of newborns is rarely done in the country at a macro level. But here is one Mumbai-based start-up that has doing it for over a year now. <keyword id="2024246" type="UNKNOWN" weightage="100" keywordseo="Navigene">Navigene</keyword> has developed a unique and <keyword id="2024273" type="UNKNOWN" weightage="100" keywordseo="Non-invasive-preventive-genetic-screening">non-invasive preventive genetic screening</keyword> service for newborns and adults, which can be implemented at a mass scale. Its primary focus is <keyword id="2024274" type="UNKNOWN" weightage="100" keywordseo="Non-invasive-preventive-testing">non-invasive preventive testing</keyword> including <keyword id="2024278" type="UNKNOWN" weightage="100" keywordseo="Newborn-genetic-screening">newborn genetic screening</keyword>, <keyword id="2024275" type="UNKNOWN" weightage="100" keywordseo="Metabolic-fingerprinting">metabolic fingerprinting</keyword>, <keyword id="2024279" type="UNKNOWN" weightage="100" keywordseo="Prenatal-screening">prenatal screening</keyword> and more, besides offering <keyword id="2024280" type="UNKNOWN" weightage="100" keywordseo="Diagnostic-testing">diagnostic testing</keyword> (<keyword id="2024281" type="UNKNOWN" weightage="100" keywordseo="Cytogenetics">cytogenetics</keyword> &amp; <keyword id="1284857" type="ORGANIZATION" weightage="100" keywordseo="Molecular-Genetics">molecular genetics</keyword>). <keyword id="2024283" type="UNKNOWN" weightage="100" keywordseo="Navigene-Baby-Screen">Navigene Baby Screen</keyword>, the start-up’s flagship product, screens the newborns for 110 genetic and metabolic disorders on the very 3rd day after birth and the company claims it is one of the most comprehensive screening tests in the world. Here is a snapshot that captures the start-up’s operations, vision and viability. 
 
Who runs Navigene (navigene.in): Two co-founders – Dr <keyword id="2024250" type="UNKNOWN" weightage="100" keywordseo="Rishi-Dixit">Rishi Dixit</keyword> (MD &amp; CEO) and Dr <keyword id="1888201" type="PERSON" weightage="100" keywordseo="Vrushali-Joshi">Vrushali Joshi</keyword> (CTO) – and the early-stage incubation and <keyword id="6357097" type="COMPANY" weightage="80" keywordseo="venture-capital">venture capital</keyword> firm, <keyword id="720080" type="COMPANY" weightage="100" keywordseo="IncuCapital">IncuCapital</keyword>. An MBBS and MBA, Dr Rishi has a deep understanding of the healthcare marketing space and also worked with start-ups. Before starting Navigene, he was head of sales &amp; strategy at a start-up in the similar domain. Prior to that, he was manager, health analytics, with ICICI Prudential Life insurance. Dr Vrushali holds a Ph.D. from Mumbai University and is a leading geneticist with more that 15 years of experience. She is also a government-certified genetic counsellor. 
 Navigene was set up by the two co-founders in April 2012, along with IncuCapital’s senior venture partners’ team of <keyword id="2024248" type="UNKNOWN" weightage="100" keywordseo="Surojit-Nandy">Surojit Nandy</keyword>, <keyword id="6393254" type="PERSON" weightage="100" keywordseo="Manish-Kumar">Manish Kumar</keyword> and <keyword id="2024247" type="UNKNOWN" weightage="100" keywordseo="Prashant-Maharaj">Prashant Maharaj</keyword>. The company started operations in November that year. Currently, it boasts a state-of-the-art testing facility and central lab in Mumbai where all samples are flown in from different parts of the country and also from global destinations. This facility also serves as the head office while 2-3 sales people are assigned to each location. Weekly sales meetings are generally held at local CCDs – a good example of asset-light sales offices. 
 But going forward, the start-up plans to open sales offices in Delhi, Bangalore and Hyderabad – small facilities for operational and logistics management. As sample collection is generally done by the people themselves or the <keyword id="6355907" type="UNKNOWN" weightage="100" keywordseo="Medical-facilities">medical facilities</keyword>, the Navigene staff simply picks them up from homes/hospitals and courier them to the HO in Mumbai. 
 
What inspired the venture: The knowledge that non-traditional, highly accurate and revolutionary ways of medical diagnosis is possible through genetic screening and diagnostic techniques. Navigene was founded to bring these advanced <keyword id="684042" type="TECHNOLOGY" weightage="100" keywordseo="medical-technologies">medical technologies</keyword> to India. 
 
What’s the pitch: Early and accurate prediction/diagnosis of disorders and ailments in newborns and adults, through <keyword id="2024271" type="UNKNOWN" weightage="100" keywordseo="Preventive-genetic-screening">preventive genetic screening</keyword> – so that every individual has the opportunity to manage his/her health. “Over the years, we have learnt a great deal about how genes function and how they can cause certain problems. Now is the time to use that knowledge in exciting new ways to prevent and treat <keyword id="6377700" type="UNKNOWN" weightage="100" keywordseo="health-problems">health problems</keyword>,” says Dr Rishi. 
 
How it works: Navigene currently caters to the B2B segment – <keyword id="796241" type="UNKNOWN" weightage="100" keywordseo="corporate-hospitals">corporate hospitals</keyword>, high-end nursing homes with birthing facilities, NICUs (<keyword id="1145483" type="UNKNOWN" weightage="100" keywordseo="neonatal-intensive-care-units">neonatal intensive care units</keyword>) and state-of-the-art <keyword id="2024290" type="UNKNOWN" weightage="100" keywordseo="Paediatric-facilities">paediatric facilities</keyword>. It also works with individual obstetricians/gynaecologists and paediatricians. The start-up typically approaches medical facilities who, in turn, offer/recommend these services to their clients. Once a client registers for the tests, he/she is given the sample collection kit and the rest of the testing procedure follows. 
 
As for newborn screening, parents get the kit as soon as they register and after the birth of the baby, either the hospital staff or the parents collect the urine sample of the baby on the 3rd day. It is then sent Navigene’s central lab in Mumbai where the sample is analysed and reports are sent within 4 days. If the report detects any abnormality, the concerned doctor/hospital/parents are immediately informed and further consultation could be arranged with medical experts. Genetic counselling for the parents is also offered in such cases. 
 
Show me the money: As of now, the start-up has a B2B revenue model in place while the B2C space is essentially serviced through its partners who can reach out to more people. Navigene charges fee per sample testing and its flagship solution, Navigene Baby Screen (NBS), which tests urine sample for 110 disorders, costs Rs 5,000. But to make it more affordable for Tier II cities and smaller medical facilities, customised packages start from Rs 900 for tracking 3-4 basic disorders and can go up to Rs 2,700 for screening 31 commonest disorders that affect infants in the first few months. The company has also tied up with a leading stem cell company for instant access to a large B2C market. “Plus, we want to work with the state governments when they start running the NBS programme at the state-run hospitals, but we will keep the packages small,” says Dr Rishi. 
 
The market size is also huge as around 30 million babies are born in India every year. “As of now, we are targeting 40 cities in India where our addressable market (a fraction of the urban population in these cities) is around 30 lakh babies a year. We aim to cover most of them over the next 3 years through our proprietary sales channel,” adds Dr Rishi. 
 
Claim to fame: A value driver in a critical industry while expansion is its forte. Navigene is a pioneer of sorts, bringing crucial preventive health screening for newborn babies at an affordable price. The start-up is currently doing 500 samples a month and targeting 10,000 samples in the next 3 years. 
 Navigene raised an undisclosed seed round with the help of its institutional co-promoter IncuCapital in August 2012 and it will be raising Series A <keyword id="6357455" type="EVENT" weightage="100" keywordseo="Funding">funding</keyword> in the next 2-3 months. The money will be utilised to grow its presence pan-India and also in other geographies such as South-east Asia and <keyword id="48890" type="COUNTRY" weightage="80" keywordseo="Latin-America">Latin America</keyword>. “We can’t disclose the names just now, but these would be all bigger and more developed countries. We are also talking to a few players in Latin America, which can lead to substantial global expansion,” says Surojit Nandy of IncuCapital. As for pan-India expansion, the company plans to reach 40 cities in next the 3 years through its own B2B sales force. 
 The start-up has hit <keyword id="2024302" type="UNKNOWN" weightage="100" keywordseo="Operational-breakeven">operational breakeven</keyword> in December 2013, within 11 months from starting its sales operations. But it is not really looking at that as a landmark. “We don’t intend to remain operationally cash-positive as we are growing at a breakneck speed and want to keep investing in the growth. That’s the reason we are looking at the Series A funding soon,” says Dr Rishi. 
 “We are also working on some breakthrough <keyword id="2024304" type="UNKNOWN" weightage="100" keywordseo="Screening-products">screening products</keyword> around <keyword id="350054" type="TECHNOLOGY" weightage="100" keywordseo="metabolomics">metabolomics</keyword> in areas like oral &amp; <keyword id="16070" type="ORGANIZATION" weightage="80" keywordseo="breast-cancer">breast cancer</keyword>, and adult metabolic disorders. So a big chunk of the Series A money will be used for product development. We will <keyword id="47916" type="UNKNOWN" weightage="80" keywordseo="invest">invest</keyword> a good amount in Capex and Opex to further strengthen our testing portfolio,” he adds. 
 
Biggest challenge: According to Dr Rishi, there’s no real competition here as very few companies in India focus on genetics (metabolomics). As for the newborn screening business, a few labs who do screening through blood sample testing could be competitors, but they use an entirely different technology platform and can track a maximum of 45 disorders. However, creating awareness among prospective clients is currently the biggest challenge. <keyword id="1912844" type="UNKNOWN" weightage="100" keywordseo="patient-education">Patient education</keyword> is virtually non-existent in India while the cost of reaching them at a micro level could be huge. “That’s why we are opting for online registrations, which will reduce operational costs,” he notes. “Then there are other screening products we are working on. When they hit the market, we should be way ahead of others,” concludes Dr Rishi.

This Start-up Provides Genetic Screening For
Newborns, Adults; To Raise Series A Funding In 2-3 Months

<ul class="summary-list"><li>New Jersey police used a baby's mandatory blood sample to pursue a decades-old criminal case.</li><li>Public defenders and a newspaper have since teamed up to sue over privacy concerns.</li></ul>New Jersey public defenders and a local news outlet are suing the state's health department and a laboratory after police used a baby's blood sample to pursue a decades-old criminal case, something the plaintiffs say "sidestepped" the defendant's rights. "By serving a subpoena on the Newborn Screening Laboratory, the State Police sidestepped its constitutional obligation to develop probable cause and obtain a warrant," the New Jersey Office of the Public Defender and New Jersey Monitor allege in <a href="https://www.documentcloud.org/documents/22084922-nj-office-of-the-public-defender-et-al-vs-department-of-health-et-al">court documents</a> filed in July and reviewed by Insider.The New Jersey Office of the Public Defender and the New Jersey Monitor are seeking records to determine how often state agencies use the state's Newborn Screening Laboratory to aid in its investigations. The New Jersey Office of the Public Defender and the news outlet allege that state police subpoenaed blood samples taken in 2012 from a baby — who is now around 9 years old — to perform DNA analysis and link the father of the child to a reopened sexual assault investigation from 1996. By obtaining a blood sample from the Newborn Screening Laboratory, state police were able to criminally charge the father, according to court documents."Alarmed by this practice it strongly believes constitutes an illegal search, OPD seeks to learn how often State agencies are utilizing the Newborn Screening Laboratory as an investigatory tool for its prosecutors in order to sidestep the constitutional rights of defendants to be free from warrantless searches and seizures," the agencies say in court documents.New Jersey's Department of Health declined to comment on the lawsuit, and state police did not immediately respond to Insider's request for comment. An opposition response is due September 16, and a hearing on the matter has been scheduled for October. <div type="image" title="Police line tape" height="4016" width="6016" msid="93602149" hostid="261"></div><h2>A stance of "extreme secrecy"</h2>Starting in 1977, newborns in New Jersey must have blood samples taken within 48 hours of birth so the state can screen for any issues, and a small amount of dried blood remains available for 23 years. The plaintiff's lawyer, CJ Griffin, said parents aren't necessarily informed of the blood draw and that even if they are aware, they can't opt out unless they prove a religious exemption. Griffin told Insider her clients are not opposed to the health screening but are fighting for more transparency around the process."I think it's shocking that they're retaining this blood for so long," Griffin said. "It's also predictable."DNA technology has improved vastly since the New Jersey retention schedule was created more than 40 years ago, and so have concerns over how genetic material is used by the government.Authors of law review articles going back at least 10 years predict the government's misuse of these blood samples, Griffin said.Earlier this year the San Francisco District Attorney <a href="https://www.npr.org/2022/02/17/1081634509/san-francisco-da-drops-charges-against-woman-linked-to-crime-through-rape-victim">dropped charges</a> against a woman after it was discovered she was linked to a crime using her DNA collected during an investigation into her rape. Last August, a federal judge ruled that Michigan's program, which stored the blood samples of every newborn for 100 years and used it in medical research, was unconstitutional.In that case, the plaintiff's attorney said the state had processed <a href="https://www.mlive.com/news/2018/04/federal_lawsuit_claims_michiga.html">over 20 requests from law enforcement seeking the blood samples.</a>Griffin told Insider that the plaintiffs weren't seeking information in their records request that would identify cases the agency is investigating or other compromising information. They just want to know how many times the lab has responded to subpoenas from law enforcement, she said."Just, 'Hey, tell us how often this is happening,' and the state took this stand of extreme secrecy," she said. "The lack of any transparency whatsoever around this is highly problematic."

Police used a NJ baby's mandatory blood sample to pursue a criminal case. Public defenders and a newspaper are now teaming up to sue over privacy concerns.

<ul class="summary-list"><li>A 19-month-old girl is the first child in the UK to receive treatment for a deadly genetic disease.</li><li>The treatment therapy, called Libmeldy, is the most expensive drug licensed in Europe.</li></ul>A toddler diagnosed with a deadly hereditary condition has the opportunity to "lead a long and hopefully normal life" after receiving £2.8 million, or about $3.3 million, gene-therapy medication, the UK's NHS announced earlier this week. Her oldest sister, who was also diagnosed with the same disease, will not be able to receive the treatment and fully benefit from it.The 19-month-old Teddi Shaw was the first child in the UK to be successfully treated for metachromatic leukodystrophy, or MLD, with a drug called Libmeldy. It is the most expensive drug licensed in Europe, according to the NHS.The country's health service negotiated a confidential discount, the NHS said in a statement, to provide the treatment to patients. Late-infantile MLD is an inherited genetic disease that usually occurs before babies hit 30 months old. It causes severe damage to a child's nervous system, and if untreated, the disease can lead to sight, speech, and hearing impairments, seizures, and a much-reduced life expectancy. It is common in these cases of MLD for treatment to only save younger siblings, because when symptoms become apparent in older siblings, it is usually too late to treat them, Vivienne Clark, the chair of the MLD Support Association UK, told Insider.To try and catch the disease early, campaigners and many doctors are pushing for the heel-prick tests for all newborns to also include screenings for MLD.Clark is hopeful, however, that with the publicity of the effectiveness of Libmeldy in Teddi's case, health officials could take screenings for the rare disease more seriously. "How can you watch children die when you have a treatment?" Clark said. The organization is also pushing for more awareness and research into adult-onset MLD, the rarest form of the condition. The Royal Manchester Children's Hospital, one of just five hospitals across Europe that offers the treatment, successfully treated Teddi last year. "Teddi is doing absolutely brilliant," Ally Shaw, Teddi's mother, said in a statement. The family lives in Northumberland in the northeast of England. "She is walking, running, a chatterbox, absolutely no signs so far of MLD. She is an absolute character and has everyone around her laughing all the time."The gene therapy, which works by replacing stem cells with defective genes that cause MLD with newly treated ones, marks major progress in the treatment for the rare disease because it only requires a one-time infusion. Teddi's "miracle" treatment is a "huge moment of hope" for families that the devastating disorder affects, Amanda Pritchard, the chief executive of the NHS, said. Both Teddi and her older sister, Nala, were diagnosed with MLD last April. The 3-year-old Nala is not able to have Libmeldy because she was not diagnosed <a href="https://www.nice.org.uk/guidance/hst18/resources/atidarsagene-autotemcel-for-treating-metachromatic-leukodystrophy-pdf-50216265566917" target="_blank" rel="noopener">early enough for the treatment to be effective </a>against the irreversible damage the disease causes.In an <a href="https://www.bbc.co.uk/news/health-64629680" target="_blank" rel="noopener">exclusive interview with the BBC</a> that followed Teddi's treatment over the course of a few months, the girls' father, Jake, said that while Teddi's treatment was a "blessing," he is also "absolutely heartbroken" about Nala's condition. "Her body is basically kind of gradually shutting down and she will lose most of her senses. So, it will come to a point where there's nothing left for her to lose," Jake told the BBC."This is a huge moment of hope for parents and their babies who are born with this devastating inherited disorder that can now be treated with a single round of revolutionary treatment. It means that children like Teddi can do the things that all children should be able to, like going to school and playing with friends.I am delighted that we have given this miracle treatment to the Shaw family at what must have been a horrendous time for them," Pritchard said, <a href="https://www.mirror.co.uk/news/health/miracle-gene-therapy-treatment-cures-29218304" target="_blank" rel="noopener">the Mirror reported</a>.About four to five children are born with MLD each year in England and Wales, the National Institute for Health and Care Excellence <a href="https://www.nice.org.uk/guidance/hst18/resources/atidarsagene-autotemcel-for-treating-metachromatic-leukodystrophy-pdf-50216265566917" target="_blank" rel="noopener">estimated</a>. Around 3,600 babies are born with the disorder worldwide each year, <a href="https://www.curemld.com/what-is-mld#:~:text=MUSCLE%20WEAKNESS&amp;text=The%20incidence%20of%20MLD%20may,of%20the%20ARSA%20mutation%20MLD." target="_blank" rel="noopener">according</a> to the charity Cure MLD.

Girl with rare deadly disease receives revolutionary million-dollar gene-therapy drug – but it is too late for her older sister

<ul class="summary-list"><li>Sammy Berko, 16, went into cardiac arrest while rock climbing with friends.</li><li>The same condition that caused this likely killed his little brother, Frankie, three years ago.</li></ul>In January, Jennifer and Craig Berko dropped their 16-year-old, Sammy, off to go <a href="https://www.insider.com/overcame-fear-of-heights-rock-climbing-jumping-off-cliff-2022-12">rock climbing</a> with his friends. Just a short while later, Jennifer got a phone call from the rock-climbing gym: Sammy was unresponsive and people were giving him <a href="https://www.insider.com/mom-uses-cpr-to-save-daughters-life-at-cheer-competition-2023-3">CPR</a>. Craig, a former firefighter, knew that if Sammy was getting <a href="https://www.insider.com/heart-doctor-explains-how-to-perform-cpr-video-2016-8">CPR</a>, it meant his heart had stopped. The realization would have been terrifying for any parent but was like a repeat nightmare for the Berkos. Their 10-year-old son, Frankie, had died three years earlier when his heart stopped after a minor <a href="https://www.insider.com/guides/health/what-causes-seizures">epileptic seizure</a>. When the Berkos arrived at the gym, they watched with horror while EMTs tried to stabilize Sammy. They would get a heartbeat, then lose it. The first responders transported Sammy to the hospital, working on him the whole time until doctors in the emergency room took over. Sammy had been getting CPR for about 90 minutes, and Craig knew what that meant."My hopes were that my son would all of a sudden wake up like in the movies," he told Insider. "But in my head, it was exactly what we went through with our other son. I didn't have a good feeling about it. It had been too long."Eventually, doctors called it. For the second time, doctors told the Berkos their child was dead. <h2>Sammy started moving, but doctors were still worried</h2>The hospital staff left Jennifer and Craig to say goodbye after Sammy was formally pronounced dead."I was just staring at his face," Craig said. "I couldn't believe it was happening again."But then he noticed Sammy move. At first, Craig thought it was wishful thinking, but when he saw Sammy struggle for breath, he screamed for a doctor. The doctor said it was likely reflexive, but when he entered the room and looked at Sammy, he responded differently."If it hadn't been such a horrific situation, it would have been almost comical to hear the attending scream, 'Oh, shit,'" Jennifer said. "The whole team came running back in and started working on him again."Doctors transferred Sammy to the pediatric intensive-care unit but told the Berkos that he was not out of the woods. His organs were failing, and they couldn't find any brain activity. Yet Jennifer noticed that Sammy's eye would move when she talked to him. She put on Sammy's favorite playlist — he's a drummer — and talked to her son."I looked at Sammy and said, 'They're telling me you're not going to make it. You've already proven them wrong once. I know you can do it again,'" she said. A while later, Sammy opened his eyes. "From that moment on, the attitude of the whole environment changed for everyone," Craig said. "Instead of a patient they were going to lose, it became, 'Holy cow, we're going to save this kid.'"<h2>Sammy lost weeks of memory</h2>Sammy spent two weeks in the pediatric intensive-care unit but doesn't remember any of it. His last memory was signing the safety-waiver forms for rock climbing the night before his cardiac arrest. Weeks later, he went to a transitional intensive-care unit.Then he started the long road to recovery. "I had no movement from the belly button down and reduced feeling," Sammy said. "Slowly, movement started to come back."After four weeks of inpatient rehab, Sammy is still unable to walk on his own, but he's optimistic. "I'm hopeful for the future and working to get as close back to normal as possible," he said. That's a tall order, according to <a href="https://memorialhermann.org/doctors/physical-medicine-rehab-specialists/dr-stacey-hall-do-1295993392" target="_blank" rel="noopener">Dr. Stacey Hall</a>, a clinical assistant professor of pediatric rehabilitation medicine at McGovern Medical School at UTHealth Houston and is also the medical director of Pediatric Rehabilitation Program at <a href="https://memorialhermann.org/" target="_blank" rel="noopener">TIRR Memorial Hermann</a> and Sammy's doctor. Sammy experienced cardiac arrest, a brain injury, multiple strokes, and a spinal-cord injury, she said. "Sammy is going to have a great life and do wonderful things in this world," Hall said. "It is not clear if he will be able to walk yet outside of therapy. He is doing amazing, though."Sammy's story is hard to explain medically, she added."He did literally go from being dead to coming back to life," she said. "I have never seen it before."<h2>Sammy's accident helped explain Frankie's death</h2>After the accident, Sammy's friends told Jennifer and Craig what they'd seen at the rock-climbing gym. Sammy had reached the top of a climb and rang the bell, then suddenly went limp. At first, they thought he was joking. Hearing that, Jennifer thought back to Frankie's death. While he had a mild seizure from his epilepsy, it never made sense to her why his heart stopped. Frankie's cause of death was ruled sudden unexpected death of epilepsy. Now, with both incidents, doctors suspected there was more going on. The whole family was tested for rare genetic diseases — even Frankie, via a sample of his DNA in the medical system. The results explained everything: Sammy, Frankie, and Jennifer were all diagnosed with <a href="https://www.childrenshospital.org/conditions/catecholaminergic-polymorphic-ventricular-tachycardia#:~:text=Catecholaminergic%20polymorphic%20ventricular%20tachycardia%20(CPVT)%20is%20an%20inherited%20cardiac%20condition,during%20exercise%20or%20strong%20emotion." target="_blank" rel="noopener">catecholaminergic polymorphic ventricular tachycardia</a>, a rare condition that causes irregular heart rhythms in response to adrenaline surges — like during Sammy's climb or Frankie's seizure. Now Sammy and Jennifer are being treated, but the Berkos wonder how life might be different if babies were tested for conditions like CPVT as part of the newborn screening. After Frankie died, Sammy told his parents that their family was now a triangle. The Berkos are forever grateful that the triangle remains intact — at least partly because of Sammy's determination."We truly believe he survived because of his zest for life," Craig said. "He loves life."

A teen came back to life after being pronounced dead. The terrifying incident helped explain why his younger brother died 3 years earlier.

<ul class="summary-list"><li><keyword id="13006332" type="UNKNOWN" weightage="60" keywordseo="cheyenne-floyd" source="Orion">Cheyenne Floyd</keyword> of "<keyword id="13006333" type="UNKNOWN" weightage="60" keywordseo="teen-mom" source="Orion">Teen Mom</keyword> OG" is raising a daughter with a rare metabolic condition.</li><li>Her daughter, Ryder, has a mild case, so Floyd has been able to focus on supporting other families.</li></ul>When my <a href="https://www.insider.com/surprising-things-about-teen-mom-mtv-2018-6">daughter Ryder was born</a>, she was perfect. That was a relief, after a pregnancy full of <keyword id="11894571" type="UNKNOWN" weightage="60" keywordseo="health" source="Orion">health</keyword> scares. When a nurse pricked Ryder's heel for the<a href="https://www.marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx"> newborn screening</a>, I didn't think anything of it. I was just happy to be holding a healthy baby in my arms. Then, two days after we got home, I got the scariest phone call of my life. It was the hospital, telling us to drop everything and come back. Ryder's newborn screening had shown something unexpected, and we needed more testing immediately.That call was the first sign that Ryder and I would become experts in a condition I had never heard of. <h2>Getting a diagnosis</h2>At first, doctors didn't know exactly what was wrong. They just kept telling me to make sure Ryder was eating. Luckily, I was overproducing breast milk, and Ryder was a good nurser. I probably overfed her. After some additional testing, Ryder was diagnosed with<a href="https://www.rageregardlessry.org/about-rage-regardless-ry"> Very Long-chain Acyl-CoA Dehydrogenase-Deficiency</a>. VLCAD is a genetic metabolic disorder. On a basic level, it means that Ryder's body can't properly convert fats into energy. To keep Ryder healthy, she couldn't have any periods of fasting. I had alarms set every two hours, and for eight months Ryder ate whenever the alarm went off. It didn't matter if she was hungry, <a href="https://www.insider.com/newborn-sleep">if she was asleep</a>, or if I was too tired to see straight — she had to eat to stay healthy. By the time Ryder was 8 months old her doctors had good news. She was <a href="https://www.insider.com/how-much-weight-should-a-baby-gain">gaining weight well</a> and had good energy levels, so they determined that she had a more mild case. She started to go longer and longer without eating, and I was finally able to get at least a little bit of sleep. <h2>Deciding to speak out</h2>That's when I began to transition out of crisis mode and into advocacy. The first eight months of Ryder's life were a blur. I was feeding her every two hours, waking her up at night, and worrying about her even in the few minutes I could have been sleeping. I was a zombie. In fact, my sister, mother, and grandmother set up a schedule so that someone was always around because they were worried that I was too tired to take care of Ryder, and myself. In those moments, I felt so alone. Even online there were no support groups and very few resources. My heart broke for the parents who were raising children with more severe VLCAD and those who didn't have the tight-knit support system that I did. My family, like many Black families, likes to keep our private lives private. When I told my mom that I wanted to share Ryder's diagnosis, she was apprehensive. She would rather we just deal with things within our home. But I had a platform, and I was beginning to feel like I had it for a reason.When I shared Ryder's diagnosis on social media, messages came in from around the world. Suddenly, it didn't feel like VLCAD was so rare, and I didn't feel so alone. <h2>The birth of a nonprofit</h2>I learned so much reading about the experiences of other families navigating metabolic disorders. Even my family changed their minds. Now they say that speaking out was the best thing I couldn't have done. It's so powerful when we share our stories and come together. In 2018, I founded <a href="https://www.rageregardlessry.org/">Rage Regardless Ry</a>, a nonprofit to help families dealing with metabolic conditions. Back when I was pregnant, when doctors thought something was wrong with my baby, friends told me to "rage regardless." At my baby shower, people were saying it again and again. Years later when we needed a name for the nonprofit, it was right there. I didn't want to raise money to send it back to a massive hospital. I wanted to put it directly in the hands of families. We help with little things, like bringing in a night nurse to help with frequent feeding or providing support so a mom can have day to herself. Right now,<a href="https://spark.ucla.edu/project/20015"> we're running a campaign</a> to help pay for hospital parking — an expense that adds up quickly and can be a barrier to care for many families. We were able to help two families in our first year. In 2020, we were able to help 40. I love to see the organization grow. Seeing more people talk about metabolic disorders, and watching Ryder flourish, has shown me that we can rage on, regardless of what life throws at us. <a href="https://www.instagram.com/cheynotshy/">Cheyenne Floyd</a> is a cast member on MTV's Teen Mom OG. She's a mother to Ryder, 4, and Ace, 7 months.

'Teen Mom' Cheyenne Floyd: After my daughter was diagnosed with a rare metabolic condition, I set out to help other families

NovartisNovartis CEO Vas Narasimhan<ul class="summary-list"><li>The pharmaceutical giant Novartis has already treated about 200 infants with its rare disease gene therapy, Zolgensma, the company said Wednesday. It plans to keep growing that figure in 2020. </li><li>Zolgensma became one of the first US-approved gene therapies last May. While the therapy has shown transformative benefits to newborns with spinal muscular atrophy, it has also stirred controversy and criticism with its <a href="https://www.businessinsider.com/novartis-drug-zolgensma-for-spinal-muscular-atrophy-wins-fda-approval-2019-5">$2.1 million list price</a> and <a href="https://www.businessinsider.com/novartiss-zolgensma-data-manipulation-gets-scrutiny-from-us-senators-2019-8">a data manipulation scandal</a>.</li><li>Early sales have largely exceeded Wall Street's expectations, with Novartis reporting $361 million in Zolgensma revenue since its commercial launch.</li><li>CEO Vas Narasimhan outlined 2020 plans to launch internationally while expanding the US market by studying a broader patient population and boosting newborn screening rates for the disease.</li><li>Novartis' plans could serve as a playbook for the emerging gene therapy space. US regulators are anticipating a flurry of gene therapy approvals in the coming years, with <a href="https://www.fda.gov/news-events/press-announcements/fda-continues-strong-support-innovation-development-gene-therapy-products">more than 900 active experimental drug applications</a> in this area.</li><li><a href="https://www.businessinsider.com/prime?module=article&amp;area=summary">Click here for more BI Prime stories</a>.</li></ul>Novartis has largely beaten Wall Street's initial sales expectations for its cutting-edge gene therapy product, Zolgensma, setting it on a trajectory into a blockbuster drug.The gene therapy for spinal muscular atrophy - a rare genetic disease - <a href="https://www.novartis.com/sites/www.novartis.com/files/q4-2019-investor-presentation.pdf">has brought in $361 million in sales</a> since launching in May 2019. With its controversial $2.1 million price tag, that revenue has come from treating about 200 infants so far, the Swiss pharma said Wednesday in releasing its full-year financial results.Those results blow past the early sales of Biogen's Spinraza, the first SMA treatment approved in 2016.Spinraza, now a multibillion-dollar revenue maker, posted $255 million in sales at a similar point when it launched in 2016, according to Chardan biotech analyst Gbola Amusa. To compare, Zolgensma's sales are 42% higher. Amusa cited Zolgensma's "superior profile" as a main driver in its success. The analyst expects Zolgensma annual sales to exceed $2 billion within the next few years, he wrote Wednesday in a research note to investors. <h2>Expanding internationally is Zolgensma's 'next inflection point'</h2>And Novartis is just getting started. CEO Vas Narasimhan laid out plans Wednesday for Zolgensma's sales to keep accelerating in 2020.The company is anticipating to expand internationally this year, with regulatory decisions expected in Europe and Japan in the first half of 2020. Currently, the therapy is only approved in the US. "We would expect in the U.S. to be largely at the rate of 100 patients a quarter until we have approal in Europe to have the next inflection point," Narasimhan said Wednesday on the company's earnings call, adding he expects the ex-US market to be larger than the US for Zolgensma.Narasimhan said conversations with those international regulators are going "very well." The pharma is also expecting 2020 approval decisions in other countries, including Switzerland, Canada, Australia and Brazil among others.<h2>US newborn screening rates remain low</h2>Within the US market, there's still plenty of room for growth as well. While Novartis reported that 97% of people on commercial insurance are now covered for the therapy, roughly half of patients enrolled in Medicaid were covered at the end of 2019.Business Insider <a href="https://www.businessinsider.com/aetna-expands-zolgensma-coverage-for-kids-with-spinal-muscular-atrophy-2019-7">previously reported</a> about several payers reversing early decisions to deny coverage of Zolgensma. Read more:<a href="https://www.businessinsider.com/aetna-expands-zolgensma-coverage-for-kids-with-spinal-muscular-atrophy-2019-7"> Aetna and Anthem will now pay for more kids with a devastating rare disease to get a $2.1 million drug, reversing earlier denials</a>Narasimhan said the pharma is "heavily focused on driving newborn screening," where just under 40% of babies born in the US are being screened for SMA. The Swiss pharma is hoping to get that number up to 70% by the end of 2020.In states that are screening newborns, Zolgensma is being used two to three times as frequently, David Lennon, president of the Novartis subsidiary that developed the gene therapy, <a href="https://www.biopharmadive.com/news/avexis-david-lennon-jpm-zolgensma-sma-gene-therapy/570516/">said in a recent interview</a>.<h2>Eyeing an older patient group and facing competition</h2>Finally, Novartis is eyeing expanding the group of patients eligible for Zolgensma. But the company will first have to convince the FDA to allow a critical study to continue, after regulators <a href="https://www.businessinsider.com/novartis-zolgensma-study-halted-by-fda-amid-safety-questions-2019-10">placed the trial on hold</a> with safety concerns. That study is testing patients up to 5 years old and delivers Zolgensma as an injection into the spinal cord. The gene therapy was initially approved in only children under 2 years old as an intravenous injection. The company plans to submit a data package to regulators in the next few weeks to address their questions. Narasimhan said he "would expect, or at least hope"that will be sufficient to resume that trial.Zolgensma will likely face competition from other therapies by expanding into older children.Beyond Spinraza, which is approved for all ages, Roche is <a href="https://www.roche.com/media/releases/med-cor-2019-11-25.htm">expecting an FDA decision by May 24, 2020</a> for its SMA drug called risdiplam. Roche has been testing its drug in the SMA population ranging from newborns to 60-year-old patients. Never miss out on healthcare news. <a href="http://newsletter.businessinsider.com/join/health-insider">Subscribe to Dispensed</a>, our weekly newsletter on pharma, biotech, and healthcare.<a href="/intelligence/digital-health?IR=T&amp;itm_source=businessinsider&amp;itm_medium=ctgr_bii&amp;itm_term=ctgr_subscription&amp;itm_content=health&amp;itm_campaign=digital-health"></a>Featured Digital Health Articles: - <a href="/telehealth-industry-explained">Telehealth Industry: Benefits, Services &amp; Examples</a> - <a href="/value-based-care-pay-for-performance-healthcare-model">Value-Based Care Model: Pay-for-Performance Healthcare</a> - <a href="/senior-care-market-trends">Senior Care &amp; Assisted Living Market Trends</a> - <a href="/wearable-technology-healthcare-medical-devices">Smart Medical Devices: Wearable Tech in Healthcare</a> - <a href="/artificial-intelligence-healthcare">AI in Healthcare</a> - <a href="/remote-patient-monitoring-industry-explained">Remote Patient Monitoring Industry: Devices &amp; Market Trends</a> <h3>NOW WATCH: <a href="https://www.businessinsider.com/how-far-sneeze-cough-germs-can-travel-2018-10">This animation shows how far your sneeze can actually travel</a></h3>

Novartis just laid out the playbook for making its $2.1 million gene therapy treatment a blockbuster. Here are the next steps.

<ul class="summary-list"><li>A strain of bacteria that causes the plague infected a hunter-gatherer 5,000 years ago.</li><li>It's the oldest strain of plague ever found, a new study says. </li><li>The ancient strain evolved for four more millennia before causing the <keyword id="2034865" type="PERSON" weightage="60" keywordseo="Black-Death">Black Death</keyword>, or <keyword id="2438295" type="PERSON" weightage="60" keywordseo="bubonic-plague">bubonic plague</keyword>.</li></ul>Five thousand years ago, a rodent bit a Stone Age hunter-gatherer. The creature carried a strain of pernicious bacteria called Yersinia pestis - the pathogen that caused the Black Death, or bubonic plague in the 1300s. The bacteria likely killed the Stone Age man, who died in his 20s, according to <a href="http://click.agilitypr.delivery/ls/click?upn=F12QfuLi-2FSVS2jBtj8pNlKma9HtJfPiAsDmBVaDoO0ob-2FF3wUdHixBiVYJbckH4hEzBGZsJARLLgUPZfZZhRMYoJtOdQxNRioXddH7XUzJE-3DtXqN_E-2FihBXTrspL1jld8x5ydDpuhbLoq2Cc7yCjmBd9qcdHpd4vWP6zGQjxp65144-2B0lqipCeMgyCRE2rnzNIatN-2BBdObIqqjU6rJiozipeBEhYnbhdUUdtv-2FXq6GzaeSmjJdQdWZ3n0lTOzd4phLtOkz6fuzey-2Fc9gDIAoOZAYgV-2FtHU7iP4pFEz0zkqCNWfb2D6bCnZk3S6XwddyAO4KHG3EFDp21bo3dQ264cWwLRTl9lh4JKhV62kdrxQWRUr2NjYN3iExEgoc0DdzGgUtuuOjioWNw4PFZ6SHGlWKW6ZWQ6nJ403b82Inmr7dCOLqDDLaID1pacuHg-2F7RhrSCmKZuXW6mgdPLsmpN-2FzWGau6q8oDjuyX7WnMZr7ilip8ptPmP4JqshMZmSolDFD1x8DJ0yNjA3hsBTwtmXS-2BWY41i0-3D">a study</a> published Tuesday. It's the oldest strain of plague known to <keyword id="41551" type="ENTERTAINMENT" weightage="100" keywordseo="science">science</keyword> so far.The strain's genome closely resembles the version of plague that wrecked medieval Europe more than 4,000 years later, killing up to half the region's population over the course of seven years. But it's missing a few key genes - notably, traits that helped it spread.Unlike its microbial descendants, the plague that sickened the ancient hunter was a slow-moving disease and not very transmissible, according to Ben Krause-Kyora, a professor of ancient DNA analysis at Kiel University in Germany."It lacked the genes that enabled transmission by flea," Krause-Kyora, who co-authored the new study, told Insider. During the Black Death, bites from fleas and lice were the key source of infections. So in the millennia between the hunter-gatherer's demise and the Black Death, Y. pestis bacteria mutated in a way that gave it the ability to jump between species via fleas."The change was a major driving force of a fast and widespread plague," Krause-Kyora said.<h2>Bacteria in the bloodstream</h2><div type="image" title="black plague bacteria y. pestiris" height="1498" width="2078" msid="83957806" hostid="261"></div>The Stone Age hunter-gatherer died in a region that's now Latvia. Near his bones, anthropologists also excavated the remains of another man, a teenage girl, and a newborn, but none had been infected.Krause-Kyora's group hadn't gone looking for ancient plague victims - rather, they wanted to see if the four buried people were related. But before completing their planned genetic analysis, the team screened ancient DNA extracted from the bones and teeth for traces of pathogens. That's how they found the bacteria.<div type="image" title="black plague y. pestis cell reports" height="1536" width="2048" msid="83957807" hostid="261"></div>The researchers then compared the bacteria's genome to other ancient plague strains. A <a href="https://linkinghub.elsevier.com/retrieve/pii/S0092867415013227">previous study</a> described other strains that are roughly 5,000 years old, but Krause-Kyora said this particular one is a couple hundred years older. So his team concluded it was the earliest-known version of Y. pestis. The hunter-gatherer's DNA also showed that he had a large quantity of bacteria in his body, which suggests that he died from it. His grave site indicated that other members of his group meticulously buried him, according to the study. "It's hard to tell if he died quickly," Krause-Kyora said, adding, "from the number of bacteria present, it seems he survived a higher dose and lived longer or in a more chronic way with it."<div type="image" title="black plague y. pestis cell reports" height="3456" width="4608" msid="83957809" hostid="261"></div>The plague can take three forms. Bubonic is the type that ravaged Europe and left victims with swollen, painful lymph nodes. Septicemic refers to infections in which the bacteria enters the bloodstream and the patient's skin turns black and dies. Pneumonic plague, meanwhile, can cause respiratory failure.Krause-Kyora thinks the ancient hunter had septicemic plague, which could explain why no other members of his small group got the disease."They would've had to have direct contact with his blood," he said - or another infected rodent would have had to bite them. <h2>An evolving plague</h2><div type="image" title="black plague bubonic plague art" height="1042" width="1812" msid="83957810" hostid="261"></div>The plague is mostly zoonotic, meaning it hops from animal hosts to humans. Krause-Kyora said that the hunter-gatherer's case can show epidemiologists how zoonotic pathogens - like Ebola, swine flu, and (most likely) the new coronavirus - change over time. "We really have to think about how evolution of zoonotic events could take thousands of years," he said.<div type="image" title="black plague y. pestis cell reports" height="2976" width="3968" msid="83957813" hostid="261"></div>During the era when the Stone Age man lived, the plague didn't cause widespread outbreaks. Y. pestis would pop up here and there in groups of hunter-gatherers, farmers, and nomads across Eurasia, but there was never a Black Death-level event."The finding confirms the early strains are associated with sporadic outbreaks that didn't spread far," Krause-Kyora said.What changed by medieval times, he thinks, is that people started to live in bigger communities and in closer proximity. That shift might have influenced the evolution that led the plague to live in fleas - which bite people more easily."It's the bacteria adapting to population density," Krause-Kyora said.

5,000-year-old bacteria is the oldest strain of plague ever seen. Scientists found it in the ancient bones of a Stone Age man.

The US is the second-most expensive country to give birth in — here's what you'll pay and tips to save

<ul class="summary-list"><li>Talking to <keyword id="25205" type="PERSON" weightage="60" keywordseo="doctors">doctors</keyword> can be intimidating, but coming prepared with questions can help.</li><li>If you are pregnant, ask your OB-GYN if genetic testing or low-dose aspirin is right for you. </li><li>If interested, you can also discuss telemedicine visits or using a midwife with your OB-GYN.</li></ul>Every mother-to-be has probably, at some point, searched online for answers to common questions like, "<a href="https://www.insider.com/pregnancy-myths-debunked-drinking-coffee-alcohol-2020-1" target="_blank" rel="noopener">Is that glass of wine safe</a>?" and "<a href="https://www.insider.com/can-you-have-sex-while-pregnant" target="_blank" rel="noopener">Can I still have sex</a>?"But here's the thing: The internet, while useful, can't cater to everyone's individual needs and therefore offers up generic advice that may not be best for you. To top it off, no two pregnancies are the same.That's why it's important to talk to your provider about what type of care is best for you and your baby. "You need to clarify anything you find online with your providers," says <a href="https://www.bumc.bu.edu/busm/profile/katharine-white/" target="_blank" rel="noopener">Kate White</a>, MD, MPH, the Vice-Chair of Academics in the Department of OBGYN at Boston Medical Center. "It's always good to do your own research, but the internet cannot tell you everything." Here are seven questions you might not think to google the answers to that you should ask your OBGYN when pregnant: <h2>1. Do you think I need genetic counseling? </h2>"When it comes to things that might affect a <keyword id="6357793" type="UNKNOWN" weightage="60" keywordseo="pregnancy">pregnancy</keyword>, there are factors that average people wouldn't necessarily think are relevant, but their doctor may think warrants genetic counseling," says White. Medical term: <a href="https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm" target="_blank" rel="noopener">Genetic counseling</a> can help determine how genetic conditions, like sickle cell disease or Down syndrome, might affect you or your baby.For example, if someone in your family has a history of <a href="https://www.insider.com/what-causes-blood-clots" target="_blank" rel="noopener">blood clots</a>, it may mean you have an inherited disorder called <a href="https://www.insider.com/factor-v-leiden" target="_blank" rel="noopener">Factor V Leiden thrombophilia</a>, which increases your risk of blood clots, <a href="https://www.insider.com/how-long-does-miscarriage-last" target="_blank" rel="noopener">miscarriage</a>, and other pregnancy-related complications like <a href="https://www.insider.com/what-is-preeclampsia" target="_blank" rel="noopener">preeclampsia</a>. That's why it's best to start this conversation with your gynecologist as soon as you become pregnant or even beforehand to catch any potential risks. <h2>2. Can I do telemedicine visits? </h2> Telemedicine visits during pregnancy are <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239612/" target="_blank" rel="noopener">becoming more popular</a> especially in rural communities where healthcare access is limited. They can also be a great option for working mothers or those in school who don't have time to travel to their doctors or sit in a waiting room, says White. Most pregnant people, <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239612/" target="_blank" rel="noopener">even those</a> with <a href="http://insider.com/what-is-gestational-diabetes" target="_blank" rel="noopener">gestational diabetes</a> or blood pressure complications, should qualify for telemedicine visits, especially during their first and second trimesters. Ask your provider if you need special equipment at home like a scale or blood pressure cuff, says White. If you are unable to document blood pressures or weight gain accurately, you will likely not qualify for remote telemedicine visits in pregnancy.Appointments that <a href="https://www.kff.org/womens-health-policy/issue-brief/telemedicine-and-pregnancy-care/" target="_blank" rel="noopener">require</a> ultrasounds, lab testing, or vaccinations will still need to be done in-office. <h2>3. Should I be taking low-dose Aspirin? </h2> New research indicates low-dose <a href="https://www.insider.com/aspirin-vs-ibuprofen" target="_blank" rel="noopener">aspirin</a> reduces the risk of <a href="https://www.mayoclinic.org/diseases-conditions/preeclampsia/symptoms-causes/syc-20355745" target="_blank" rel="noopener">preeclampsia</a>, a potentially fatal complication that affects <a href="https://www.marchofdimes.org/complications/preeclampsia.aspx" target="_blank" rel="noopener">2% to 8%</a> of pregnancies. There is no known treatment except delivery, says White, which can be challenging if your baby is premature. <a href="https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2018/07/low-dose-aspirin-use-during-pregnancy" target="_blank" rel="noopener">The American College of Obstetricians and Gynecologists</a> now recommends low-dose aspirin (81 mg/day) beginning around the 12th week of pregnancy for people with: <ul><li>A history of preeclampsia </li><li>Preterm delivery at less than 34 weeks of gestation </li><li>High-risk factors like <a href="https://www.insider.com/what-is-diabetes" target="_blank" rel="noopener">diabetes</a>, renal disease, or chronic <a href="https://www.insider.com/risk-factors-for-hypertension" target="_blank" rel="noopener">hypertension</a></li><li>IF you are 35 years old with either your first pregnancy or a body mass index greater than 30 </li></ul>What the research says: A <a href="https://pubmed.ncbi.nlm.nih.gov/28657417/" target="_blank" rel="noopener">2017</a> study of women at a high risk of developing preeclampsia found a significant decrease in the rate of preterm preeclampsia in those who took aspirin compared to the placebo group. They took low-dose aspirin daily starting at 11 to 14 weeks into pregnancy until 36 weeks gestation. Meanwhile, a <a href="https://pubmed.ncbi.nlm.nih.gov/17443552/" target="_blank" rel="noopener">2007 review</a> of 59 trials found a 17% relative reduction in preeclampsia with low-dose aspirin use. Those who have a hypersensitivity to NSAIDs, asthma, or a history of stillbirth, ulcers, or gastrointestinal bleeding <a href="https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2018/07/low-dose-aspirin-use-during-pregnancy" target="_blank" rel="noopener">should not take aspirin during pregnancy</a>. <h2>4. Is it safe to see a midwife for my pregnancy? </h2>If you want a more natural, low-intervention approach to pregnancy and don't have any serious chronic conditions or pregnancy complications, you may want to consider a midwife. <a href="https://americanpregnancy.org/healthy-pregnancy/labor-and-birth/midwives-605/" target="_blank" rel="noopener">Midwives</a> are certified healthcare professionals who provide prenatal and postpartum care as well as labor and delivery assistance. <a href="http://www.midwife.org/acnm/files/cclibraryfiles/filename/000000002128/midwifery%20evidence-based%20practice%20issue%20brief%20finalmay%202012.pdf" target="_blank" rel="noopener">Research indicates</a> women cared for by midwives have: <ul><li>Lower rates of c-sections (10% compared to 32%) </li><li>Higher rates of <a href="https://www.insider.com/benefits-of-breastfeeding" target="_blank" rel="noopener">breastfeeding</a> (79% compared to 51%)</li><li>More prenatal education </li><li>Increased sense of control during the birthing experience </li></ul>Important: Midwives also have a higher risk of perinatal death and neonatal seizure. Therefore, look for midwifery groups or birthing centers that have established relationships with adjacent hospitals if complications occur, to reduce these risks.If you are interested in using a midwife, bring this up early with your gynecologist, says White. You may be able to find a hospital or OB-GYN that works alongside midwives. <h2>5. What is your cesarean delivery rate? </h2>The United States has a <a href="https://www.insider.com/how-long-does-a-c-section-take" target="_blank" rel="noopener">cesarean delivery</a> rate of <a href="https://www.cdc.gov/nchs/fastats/delivery.htm" target="_blank" rel="noopener">32%</a>, which is significantly higher than the recommended <a href="https://www.who.int/reproductivehealth/publications/maternal_perinatal_health/cs-statement/en/#:~:text=Since%201985%2C%20the%20international%20healthcare,both%20developed%20and%20developing%20countries." target="_blank" rel="noopener">10% to 15%</a>. While c-sections can prevent otherwise unavoidable maternal or newborn deaths, they also pose <a href="https://www.mayoclinic.org/tests-procedures/c-section/about/pac-20393655" target="_blank" rel="noopener">risks like</a>: <ul><li>Infection </li><li>Postpartum hemorrhage </li><li><a href="https://www.insider.com/how-to-get-rid-of-blood-clots" target="_blank" rel="noopener">Blood clots</a> </li><li>Increased risks during a future pregnancy</li></ul>Additionally, recovering from a C-section can take <a href="https://www.insider.com/how-long-does-it-take-to-recover-from-a-c-section" target="_blank" rel="noopener">four to six weeks</a>, making it difficult for a new mother to care for their baby, says White. "I think talking to your provider at your first prenatal visit about their cesarean rate and how they approach C-sections is a good thing," says White. A safe and healthy delivery should be the ultimate goal, but understanding why and when your doctor would recommend a cesarean section is important to discuss.<h2>6. What kind of postpartum care do you recommend? </h2>The American College of Obstetricians and Gynecologists <a href="https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2018/05/optimizing-postpartum-care" target="_blank" rel="noopener">recommends</a> all women follow-up with their provider within the first three weeks postpartum with ongoing care. "Look for a doctor that wants to work with you on creating a comprehensive postpartum plan," says White. Currently, <a href="https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2018/05/optimizing-postpartum-care" target="_blank" rel="noopener">40% of women</a> do not attend a postpartum visit which prevents: <ul><li>Proper screening for <a href="https://www.insider.com/how-long-does-postpartum-depression-last" target="_blank" rel="noopener">postpartum depression </a></li><li>Management of chronic conditions like <a href="https://www.insider.com/high-blood-pressure" target="_blank" rel="noopener">high blood pressure</a> or diabetes </li><li>Access to effective <a href="https://www.insider.com/birth-control" target="_blank" rel="noopener">contraceptives</a></li><li>Monitoring of C-section recovery </li></ul>What the research says: A <a href="https://pubmed.ncbi.nlm.nih.gov/22488220/">2012 study</a> of black and Latina mothers found just 15 minutes of postpartum guidance before hospital discharge along with a follow-up phone call two weeks later, reduced symptoms of depression and breastfed for longer through six months postpartum. <h2>7. If you are black or American Indian, ask your doctor how you can work together to mitigate risks </h2>Black, American Indian, and native Alaskan women are <a href="https://www.cdc.gov/media/releases/2019/p0905-racial-ethnic-disparities-pregnancy-deaths.html" target="_blank" rel="noopener">two to three times</a> more likely to die from pregnancy-related causes than white women. This is not only due to <keyword id="6354750" type="UNKNOWN" weightage="100" keywordseo="health">health</keyword> care inequities and inherent biases, but also higher rates of pregnancy-related complications <a href="https://www.nationalpartnership.org/our-work/health/reports/black-womens-maternal-health.html" target="_blank" rel="noopener">like</a>: <ul><li>Earlier onset of preeclampsia </li><li><a href="https://www.mayoclinic.org/diseases-conditions/uterine-fibroids/symptoms-causes/syc-20354288" target="_blank" rel="noopener">Fibroids</a>, which increase the risk of postpartum hemorrhaging </li><li>Pregnancy-induced hypertension</li><li><a href="https://www.mayoclinic.org/diseases-conditions/pulmonary-embolism/symptoms-causes/syc-20354647" target="_blank" rel="noopener">Pulmonary embolism </a></li></ul>It's important to discuss these statistics with your doctor so you can create a plan to mitigate risks. According to White, that plan may include more visits, blood pressure checks, or blood tests, which can monitor for anemia and platelet abnormalities - both of which can contribute to more significant problems with bleeding at the time of delivery. "It's not that doctor's don't want all of their patients to be safe and healthy, but for patients who are particularly high risk - which really all black women in some sense should be considered high risk - they deserve to have a bit more attention paid to them when they're pregnant," says White. <h2>Insider's takeaway </h2>Talking with your OB-GYN early on about questions or concerns you have is essential for a healthy and successful pregnancy. White recommends keeping a running list of questions on the notes app on your phone and printing research or other information you find online to run by your provider. "Don't be afraid to ask questions. It's easy to feel intimidated, even if it's a doctor you love," says White. "But pregnancy is a special time and it can be a little scary for everybody." <a data-type="5df279fde94e86397d008952">What is preeclampsia: Risks, symptoms, and treatment</a><a data-type="5ddee2d4e94e865cbc22484a">How much weight you should gain during pregnancy, according to doctors</a><a data-type="5ddede9be94e8659cf1ad591">How to relieve your pregnancy nausea</a><a data-type="5dd2b041695b5831922a9812">When pregnancy cravings start and how long they last</a>

7 questions your OB-GYN wishes you would ask them when pregnant

<ul class="summary-list"><li>After learning my son had a chromosomal abnormality, I experienced the devastating loss of a <keyword id="33680" type="PERSON" weightage="60" keywordseo="miscarriage">miscarriage</keyword>.</li><li>When I saw the news of <keyword id="883113" type="PERSON" weightage="60" keywordseo="Chrissy-Teigen">Chrissy Teigen</keyword>'s <keyword id="1449453" type="PERSON" weightage="60" keywordseo="pregnancy-loss">pregnancy loss</keyword>, memories of my own miscarriage came flooding back.</li><li>The physical pain from the medical procedures in its aftermath were bad, but it was nothing compared to the emotional pain.</li><li>I experienced recurring nightmares, anxiety, and feelings of <keyword id="60307" type="ENTERTAINMENT" weightage="60" keywordseo="grief">grief</keyword> and loss, but my doctors were largely indifferent.</li><li>No one asked me how I was doing emotionally. It was assumed that I was fine. No follow-up appointment was offered. Shame in miscarriage is common, but often silenced.</li></ul>I sat in a hospital waiting room staring at the green patterned painting hanging on the wall in front of me. One hand gripped the other while my sneakers traced the old blue carpet. Doctors in scrubs, pregnant women, and hospital employees walked by me, immersed in their morning routine. I wanted to leave — to run to the nearest elevator and escape — but I waited for my name to be called.Moments later, the surgeon, wearing a purple Patagonia fleece and a low ponytail, greeted me and went over the details of the dilation and curettage procedure. It would be performed following a devastating loss: the miscarriage of my son.The vivid memories of that day came rushing back recently, as news broke of Chrissy Teigen's pregnancy loss. As others <a href="https://www.insider.com/people-sharing-miscarriage-stillbirth-experiences-after-chrissy-teigens-pregnancy-loss-2020-10">shared</a> their own stories of loss, I was reminded of my own grief, and of how unfathomable the days and months after it seemed. And I was reminded, too, of just how little it seemed to matter to the doctors around me. <h2>Two days before I found myself in that waiting room, I received a phone call from a genetic counselor.</h2>Our results indicated that our baby boy had Trisomy 13. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543265/">Ninety percent</a> of babies with this chromosomal abnormality do not live to be a year old. We scheduled an appointment the following morning for an ultrasound.The ultrasound technician was bubbly when we arrived, confirming my name, my age and that I was twelve weeks pregnant. But shortly after she covered my belly in lubricating jelly, she began to move her tool faster, searching, unable to find an angle where our baby did not appear still on the screen.<div type="image" title="maternity ward" height="1668" width="2223" msid="78465182" hostid="261"></div>The technician left quietly and a doctor I had never met before entered the room minutes later. "I'm sorry. Your baby has passed," she said. Without time to take that information in, she explained I could wait for the baby to exit my body naturally or schedule a D&amp;C to "remove the tissue."My husband Peter and I held each other and burst into tears the moment she left. Minutes later, the medical staff re-entered to schedule the D&amp;C, and the doctor returned to ask us to leave. They needed the room for other patients.There were two pain management options for the D&amp;C — sedation through an IV, which would leave me with no memory of the procedure, or oral medication, which would leave me aware. I decided on oral medication, which consisted of Ativan and Ibuprofen.When it was time to head back into the operating room, my husband was asked to leave. I clung to him until they wheeled me away.The procedure started off relatively painlessly. The surgeon dilated my cervix, applied numbing medication, and explained each step aloud. She used suction to remove what she called "particles" from my body. When I first heard the suction, I winced, anticipating a physical blow.Because of my positioning, I couldn't see the machine, so my imagination took over. I envisioned our baby being forcibly pulled from my body in pieces. I began to cry. The crying turned into sobs.When the suction stopped, the surgeon pushed down on my lower abdomen. "We need to make sure all of the particles are removed," she said. A young nurse came over to hold my hand, but a stranger couldn't provide the comfort I needed.The surgeon told me I could return to work in a day and could try for another baby in a month. I felt like a little girl being patted on the head before being shooed off to play. "And you should cancel all your prenatal appointments," she added. The unnecessary reminder felt like a jab.<h2>I left the hospital bleeding and experienced painful headaches, cramps, soreness and back pain. </h2>The less I understood about what was happening to my body physically, the more anxious I became. But my physical symptoms were incomparable to the emotional pain.<div type="image" title="mental health depression grief anxiety stress disorder ADD panic OCD mood trauma sad tired cox 24" height="1665" width="2220" msid="78465190" hostid="261"></div>The sadness felt inescapable. With that came anxiety and fear about whether I would get pregnant again, and if I would have to endure another miscarriage. Those thoughts dominated my mind, making it difficult to feel hopeful about my future. The loss also triggered prior grief. Nine years before we miscarried, I lost my mother to ALS and five years prior, I lost my father to cancer. Each death eroded my ability to stay positive a little bit more than the prior. I wondered how many more losses I could endure. According to a recent study published in the American Journal of Obstetrics and Gynecology, <a href="https://www.sciencedirect.com/science/article/abs/pii/S0002937819313699">one in four women</a> experience post-traumatic stress disorder (PTSD) one month after a pregnancy loss. Although I wasn't officially diagnosed with PTSD, I still experienced the symptoms. I couldn't escape the image of our motionless baby on the ultrasound screen or the sound of the suction, which woke me in the early morning hours the first night after our miscarriage. I cried so hard that I woke my husband. The nightmares continued for weeks. The morning after a nightmare, I would open my eyes, remember what happened, and eagerly wait for the day to end. <h2>I felt exhausted, but my mind was wired — I felt alone, but unable to connect with those I love.</h2>Through research, I discovered my symptoms were common. <a href="https://onlinelibrary.wiley.com/doi/full/10.1111/j.1741-3729.2011.00647.x">One in two</a> women who miscarry experience depressive symptoms shortly after, and <a href="https://www.ncbi.nlm.nih.gov/pubmed/8123604">two in five</a> experience anxiety immediately following the miscarriage. But at the moment, the American Association of Obstetricians and Gynecologists does not specifically recommend screenings for depression and anxiety symptoms after a miscarriage.The impact of miscarriage is understood, but rarely mentioned. Doctors are not mental <keyword id="6354750" type="UNKNOWN" weightage="60" keywordseo="health">health</keyword> care providers, but they are the gatekeepers to information for women who miscarry. The mental health effects of a miscarriage are well established and women deserve care which acknowledges that fact.No one asked me how I was doing emotionally. It was assumed that I was fine. No follow-up appointment was offered. Shame in miscarriage is common, but often silenced.<h2>Because I had experienced significant grief before, I recognized that my mental health was not well, and I needed help </h2>If I was going to get better, I needed to start talking. I began to share my story with family and friends, asking for support. I continued to see a therapist. My husband and I spoke often of our loss and supported each other through the grief we faced together and individually. There was never a magic moment when the pain suddenly left. But with time it became more bearable. The more I shared, the less I felt ashamed of my experience, and the more I recognized that despite its commonality, miscarriage is a loss, which can take a significant emotional toll.<div type="image" title="medical health pregnancy baby parenting childbirth cox 1" height="1666" width="2222" msid="78465194" hostid="261"></div> Weeks ago, over a year after our miscarriage, I left the hospital after giving birth to a baby girl. Almost every day since, I have breathed in her newborn scent and stared at her in amazement. I understand how lucky we are to have a healthy baby. As I breastfed her at 5 o'clock this morning, exhausted from sleeping only two hours at a time during the night, I read Chrissy Teigen's Instagram post. "We are. . . in the kind of deep pain you only hear about," she wrote on Instagram as she bravely shared the news of her pregnancy loss. Holding my daughter, my face was covered in tears by the final words of the post. Her words reminded me of the emotional pain we endured not long ago. The birth of my daughter does not erase that experience or our loss. Rather, our baby boy who passed is now a part of my story that I am no longer afraid to accept.Katie C. Reilly is an attorney and writer. Her work primarily focuses on women's health, grief and social justice issues. Read more: <a href="https://www.insider.com/people-sharing-miscarriage-stillbirth-experiences-after-chrissy-teigens-pregnancy-loss-2020-10">Chrissy Teigen fans are sharing their heartbreaking experiences with pregnancy loss after she posted about losing her son</a><a href="https://www.insider.com/having-a-baby-pregnancy-coronavirus-pandemic-2020-3">I'm nine months pregnant, and I'm bringing my baby into a world I no longer understand. I have to remain hopeful anyway.</a><a href="https://www.insider.com/beyonce-miscarriages-self-care-motherhood-2019-12">Beyonce says having miscarriages taught her to mother herself before she could be a mom to anyone else</a>

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