Trisomy 21 – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ Wed, 25 May 2022 01:46:58 +0000 en-US hourly 1 https://wordpress.org/?v=5.9.3 https://www.novascotiadownsyndromesociety.com/wp-content/uploads/2021/07/icon-2021-07-30T230350.091.png Trisomy 21 – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ 32 32 Graduates Reflect on God’s Presence in Times Big and Small https://www.novascotiadownsyndromesociety.com/graduates-reflect-on-gods-presence-in-times-big-and-small/ Tue, 24 May 2022 15:10:14 +0000 https://www.novascotiadownsyndromesociety.com/graduates-reflect-on-gods-presence-in-times-big-and-small/ At the CAPS ceremony, Brad Ingram CAPS’22 opened up about how he was told college probably wasn’t for him after he was diagnosed with a learning disability in high school. Later, he felt called to pursue an education, but a program he was about to start at another school was cut short. But then he […]]]>

At the CAPS ceremony, Brad Ingram CAPS’22 opened up about how he was told college probably wasn’t for him after he was diagnosed with a learning disability in high school. Later, he felt called to pursue an education, but a program he was about to start at another school was cut short. But then he signed on to Bethel’s BA in Special Education program. “I discovered how perfect God’s timing is, and I just needed to trust him,” Ingram says. He also advocated for educators, as many feel exhausted after years of upheaval and challenges stemming from the pandemic.

While launch ceremonies were held in person and many COVID-19 related restrictions were lifted across the country, the pandemic fell in the middle of these graduates’ stay at Bethel. And the speakers reflected on how this has affected their educational journeys. During the Bethel Graduate School ceremony, Olubola Salabiu GS’22 admitted that she had struggled to catch her breath since 2019. As she reflected on balancing her family, studies and career during the pandemic, she urged fellow graduates to live life to the fullest. “Every day we all have the opportunity to reboot and not be negative about the things around us, like families and friends, and to be grateful for the gift of life to take on unfinished tasks with support,” said Salabiu, who earned a doctorate in nursing practice. diploma.

Elaina Cox ’22, who earned a BSN in nursing, spoke about how God remains faithful even during the most difficult times. Over the past few years, many “what ifs?” became realities, but she saw God continue to work in miraculous ways. For many, the pandemic was just “what if”. For Cox, it was a loss for his family. On September 20, 2021, his sister, Callie, died. Callie was born with trisomy 18, a chromosomal disorder that prevented her from speaking or walking. But she exceeded expectations by living to be 26. Callie loved and welcomed family and friends with a tender embrace. “She showed others the love of Christ without saying a single word,” Cox recalled.

While it was difficult to return to Bethel after her sister’s funeral, Cox found support in her home away from home. She thought back to a particularly difficult nursing class where they watched an end-of-life simulation, which made her cry thinking about her sister. But her teacher and classmates comforted her. “The love I felt was a great example of the beauty found in community and the love and faithfulness of the Lord,” she said. This was just one example of the support she received on campus. “I leave Bethel with a grateful heart for this community of which I am a part,” she said.


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Down River Run 5K and 1.5 Mile Fun Walk are back https://www.novascotiadownsyndromesociety.com/down-river-run-5k-and-1-5-mile-fun-walk-are-back/ Fri, 20 May 2022 11:08:32 +0000 https://www.novascotiadownsyndromesociety.com/down-river-run-5k-and-1-5-mile-fun-walk-are-back/ Photo courtesy of Family & Friends Down Syndrome Association of Niagara Fri 20 May 2022 07:00 The Family & Friends Down Syndrome Association of Niagara is pleased to announce the return of The Down River Run 5K and 1.5 Mile Fun Walk. The event will take place June 5 at Fort Niagara State Park, operated […]]]>

Photo courtesy of Family & Friends Down Syndrome Association of Niagara

Fri 20 May 2022 07:00

The Family & Friends Down Syndrome Association of Niagara is pleased to announce the return of The Down River Run 5K and 1.5 Mile Fun Walk. The event will take place June 5 at Fort Niagara State Park, operated by Its Your Race, Race Management Solutions.

Registration and race details are available at https://DownRiverRun.itsyourrace.com. Check-in begins at 9:00 a.m. sharp at the south entrance of Fort Niagara State Park. The 5K start time is 10 a.m. and the walk start time is 9:45 a.m. Early registration $30, while late registration (May 30 through race day) is $35. An awards ceremony and light refreshments will follow the end of the race.

Organizers said: “We respect and understand the need for family companionship for pets, however, we ask owners to please take full responsibility for their pets. We also ask that any minor be accompanied and supervised at all times by their legal guardians.

“The proceeds from this year’s event will enhance program development, resources and referral efforts in our community. »

The Family & Friends Down Syndrome Association is a 501(c)(3) non-profit organization and local affiliate of the National Down Syndrome Society. He advocates for positive awareness, quality education, and meaningful community integration for all people with Down syndrome.

Know the facts: (adopted with permission from NDSS to share)

√ Down syndrome occurs when an individual has an extra full or partial copy of chromosome 21. This extra genetic material alters the course of development and causes the characteristics associated with Down syndrome.

√ There are three types of Down syndrome: trisomy 21 (non-disjunction) accounts for 95% of cases, translocation accounts for about 4% and mosaicism accounts for about 1%.

√ Down syndrome is the most common chromosomal disorder. In the United States, about one in 700 babies are born with Down syndrome, or about 6,000 every year.

√ Down syndrome occurs in people of all races and economic levels.

√ The incidence of births of children with Down syndrome increases with the age of the mother. But due to higher fertility rates among young women, 80% of children with Down syndrome are born to women under the age of 35.

√ People with Down syndrome have an increased risk of certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, childhood leukemia and thyroid problems. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives.

√ Some of the common physical traits of Down syndrome are: low muscle tone, short stature, upward slanting eyes and a single deep crease in the center of the palm. Each person with Down syndrome is a unique individual and may possess these characteristics to varying degrees or none at all.

√ The life expectancy of people with Down syndrome has increased dramatically in recent decades – from 25 years in 1983 to 60 years today.

√ People with Down syndrome go to school, work, participate in decisions that affect them, have meaningful relationships, vote, and contribute to society in many wonderful ways.

√ All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and not indicative of the many strengths and talents that each individual possesses.

√ Quality educational programs, a nurturing home environment, good health care, and positive support from family, friends, and community enable people with Down syndrome to lead fulfilling and productive lives.

Thanks in advance to our generous sponsors, volunteers and participants for their support: Thomas Branchini, Cecconi Chrysler Complex, Ciminelli Real Estate, Collision Enterprises, CRB Holdings Bob Burns Tim Hortons, DiCamillo Bakery (in kind), DiMino Lewiston Tops Markets (in nature), Dr Hargrave Lewiston Eyecare Center, Lewiston Village Bake Shoppe, Network for Good, Our Lady of Angels Association, Seneca Gaming Corp. Resorts & Casino, Sevenson Environmental Services, Michael and Krisann Ventry, Youngstown Lions Club.

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How Roe’s end would change prenatal care https://www.novascotiadownsyndromesociety.com/how-roes-end-would-change-prenatal-care/ Fri, 20 May 2022 11:00:00 +0000 https://www.novascotiadownsyndromesociety.com/how-roes-end-would-change-prenatal-care/ Pregnancy, in the age of modern medicine, comes with a series of systematically recommended prenatal tests: at 11 weeks, a blood test and an ultrasound to check for conditions such as Down syndrome. At 15 weeks, another blood test, for abnormalities like spina bifida. From 18 to 22 years old, an anatomical ultrasound of the […]]]>

Pregnancy, in the age of modern medicine, comes with a series of systematically recommended prenatal tests: at 11 weeks, a blood test and an ultrasound to check for conditions such as Down syndrome. At 15 weeks, another blood test, for abnormalities like spina bifida. From 18 to 22 years old, an anatomical ultrasound of the baby’s heart, brain, lungs, bones, stomach, fingers and toes. This is when many parents find out if they are expecting a boy or a girl, but the most pressing medical reason is to look for anatomical abnormalities, including serious abnormalities such as missing kidneys or missing parts of the brain and skull.

With Roe vs. Wade In place in America, women undergoing prenatal testing generally have the legal right to terminate a pregnancy based on the information they learn. But restrictions on abortion in some states — by gestational age or by fetal abnormality — have already begun to limit that choice. What if the Supreme Court overturns roe deer, as seems likely, it will be further reduced in some states. The routine elements of prenatal care might start to look very different in states that ban abortion than in states that allow it.

Even today, the laws of more than a dozen states that restrict abortion beyond 20 weeks change the use of second trimester anatomical analyses. “People are rolling back these tests, doing them earlier than is optimal,” says Laura Hercher, a genetic counselor at Sarah Lawrence College, who recently conducted a survey of genetic counselors in states where abortion is restrictive. But the earlier the examination is performed, the less doctors can see. Some brain structures, such as the cavum septum pellucidum, might not develop until week 20, says Massachusetts obstetrician Chloe Zera. Not finding this structure could indicate a brain abnormality, or simply that the scan was done too early. Doctors can also detect evidence of a heart defect, but don’t know how serious or repairable it is. At 20 weeks, the heart is only the size of a penny.

Six States also currently restrict abortions based on genetic abnormalities. These laws typically target Down syndrome, or trisomy 21, in which the presence of a third chromosome 21 can have a range of physical and mental effects, milder in some children than others. The laws of some states specifically mention Down syndrome; others to expand restrictions on a much wider range of genetic abnormalities, many of which are much more life-limiting than Down syndrome. In trisomy 13, for example, the physical abnormalities are so severe that most babies only live a few days or weeks. More than 90 percent do not survive beyond their first year.

In states that currently restrict abortion based on genetic abnormalities but still allow it for other reasons under roe deer, patients can have an abortion if they do not mention the genetic abnormality. This puts doctors and genetic counselors in a bind. For example, says Leilah Zahedi, a maternal-fetal medicine physician in Tennessee, what happens if doctors see a serious heart defect on ultrasound? The underlying cause of many of these heart problems is Down syndrome. But Tennessee restricts abortions specifically on the basis of Down syndrome. Should doctors tell patients about the link to Down syndrome? Should they do genetic testing? It could help parents prepare for everything that comes with Down syndrome. But it would be more difficult for them to have an abortion, if they chose to have one. They should consult another doctor who does not know the diagnosis and be careful not to reveal it.

Many of the current abortion restrictions contain exemptions for cases with the most dramatic medical consequences: fatal fetal abnormality or risk to the life of the mother. Yes roe deer is overturned, many of the “trigger laws” that will immediately ban abortion in certain states also contain such exemptions. But what is “fatal” for the baby and what risk is acceptable for the mother are not entirely clear criteria. “There are very few clear lines in medicine,” says Cara Heuser, a maternal-fetal medicine physician in Utah. “The laws really don’t allow for all the nuance that we see in medicine. They ignore uncertainty.

When it comes to fetal abnormalities, “it’s very rare that we can say, ‘It’s universally fatal,'” Zera told me. For example, in the case of a massive cerebral hemorrhage that destroys most of the brain tissue but leaves the brainstem intact, the baby can breathe at birth but will need further medical attention. Fact fatal mean deadly in the absence of certain medical interventions? Which? And should an anomaly be fatal immediately or within a certain time after birth?

There is also ambiguity in the exceptions for the life of the mother. A genetic counselor in Texas told me about a recent patient whose fetus was triploid, meaning it had a full extra set of 23 chromosomes. It is one of the universally fatal conditions. But triploidy also poses an additional risk to the mother, as these pregnancies are linked to preeclampsia, or dangerously high blood pressure. Texas currently limits abortions beyond approximately six weeks, except in “medical emergencies.” High blood pressure may not be an immediate medical emergency, but it can be. “What’s scary about being a pregnant person in Texas,” says the genetic counselor, whom I agreed not to name because that person feared legal retaliation in the state, is that many doctors will wait to provide treatment “until mom’s life is really in danger.” The fetus won’t survive, and the delay can only increase the risk to the mother, but “we have to wait until you’re sick enough to deliver.” These laws create a general climate where physicians who fear prosecution may be reluctant to treat the mother. “Sometimes,” Heuser says, “that hesitation can be fatal.”

Yes roe deer is canceled and abortion is banned in many states, testing could play a different role in prenatal care. Zahedi told me, anecdotally, of a recent patient whose doctor told her genetic testing no longer made sense. But she doesn’t really think abortion bans will change the use of tests, even if they limit what patients can do afterward. Most of her Tennessee patients already don’t choose abortion, she said, but the tests can provide information that informs obstetric care and prepares parents for what’s to come.

Others raise the possibility that insurers will eventually drop coverage for prenatal tests. Cumulatively, “all of these types of screenings and tests are incredibly expensive,” Hercher, of Sarah Lawrence, told me. Insurance currently has a financial incentive to cover them, because preventing the birth of a child with severe medical needs saves costs down the line. But if abortion is illegal in many states, Hercher asks, will insurance companies, especially regional ones, want to continue covering such tests? Or will patients have to pay for them out of pocket? These tests are currently routine for pregnant women, but whether they will remain so in the future will depend on where you live and what you can afford.

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Marthe Gautier, “forgotten” from the discovery of trisomy 21, died https://www.novascotiadownsyndromesociety.com/marthe-gautier-forgotten-from-the-discovery-of-trisomy-21-died/ Wed, 18 May 2022 20:11:39 +0000 https://www.novascotiadownsyndromesociety.com/marthe-gautier-forgotten-from-the-discovery-of-trisomy-21-died/ Marthe Gautier, a French doctor involved in the discovery of the extra chromosome that causes Down syndrome, passed away on Saturday, April 30. She was 96 years old. This is an opportunity for us to come back to this discovery and the key role that Gautier played in it. Like so many other women of […]]]>

Marthe Gautier, a French doctor involved in the discovery of the extra chromosome that causes Down syndrome, passed away on Saturday, April 30. She was 96 years old. This is an opportunity for us to come back to this discovery and the key role that Gautier played in it. Like so many other women of her generation, she was the victim of what has been called the Mathilde effect (see box).

Trisomy 21

Sixty-three years ago, the French Academy of Sciences received an article, “Human Chromosomes in Tissue Cultures” (1959), which reported the presence of an extra chromosome in patients with the syndrome described by Langdon Down almost a century earlier. . This was the first autosomal chromosomal aberration recognized in human cells; in 1960, it was given the name “trisomy 21“. History records the name of Jérôme Lejeune, the first author cited on the article. The name of the researcher, however, has long since fallen into oblivion. Here’s how it happened.

The Matilda effect

Many women go unrecognized for the often central role they played in scientific discoveries – and that’s when they aren’t simply erased from the annals of science or outright excluded from the awarding of prizes, even the most prestigious. There’s Jocelyn Bell Burnell, the British astronomer who discovered pulsars. There is Rosalind Franklin, who pioneered the field of molecular biology with her discovery of the double helix structure of DNA – a discovery which has been attributed to three men, James Watson, Francis Crick and Maurice Wilkins, who later received a Nobel Prize. . In the 1990s, science historian Margaret Rossiter coined the term “Mathilde Effect”, describing it as the phenomenon in which female scientists are “ignored, discredited or otherwise overlooked”. At best, they receive due recognition for their discoveries, and even then, only many years after the fact.

A year at Harvard

Born in 1925 from a long line of farmers in the Brie region of France, Marthe Gautier continued her medical studies, aiming for pediatrics. “In 1955, I defended my thesis on pediatric cardiology. My supervisor was Robert Debré,” Gautier told the magazine. The researchwho, the day after his death, republished the Account she gave them in 2009 the circumstances surrounding the discovery. Debré was the father of French pediatrics and, at the time, the leading practitioner in the field. Gautier – one of only two women among the 80 residents of Hôpitaux de Paris – was doing brilliantly in her role when Debré nominated her for a scholarship to spend a year at Harvard University.

While pursuing her studies there, she learned that her contract required her, as she puts it, to “work part-time as a technician in a cell culture laboratory in order to obtain, from aortic fragments, cultures in vitro of fibroblasts, poorly differentiated cells.” This was an opportunity for the student to acquire expertise in a new field.

Back in France, she took a job at the Trousseau Hospital as head of the internal clinic of the pediatric cardiology department directed by Raymond Turpin. Turpin studied multiple malformation syndromes. The most common was what was then called “mongolism” – now known as Down syndrome – a disorder characterized by intellectual disability and morphological abnormalities. He instructs Gautier to develop cell cultures. She took everything she had learned during her time in the United States and put it to use, starting to count chromosomes. It was not easy because, in the 1950s, “we were at year zero in France as far as cell cultures are concerned”. Gautier chose to “work on fibroblasts from connective tissue, because it is easy to obtain under local anesthesia.” She developed her own experimental protocol and was fully invested in it – sometimes literally using her own serum, and even her own money to buy lab equipment.

When she finally succeeded in cultivating connective tissue, she adapted a recent technique which allowed to induce a “hypotonic shock”. She dried the slide after fixation to sufficiently disperse the chromosomes of the dividing cells, thus facilitating their counting. But she added her personal touch: “The tincture I used was my own recipe,” she said of her discovery. Then she saw what the process had revealed: the cells of normal children had 46 chromosomes, but the cells of those with Down’s syndrome had 47.

The second place

However, Gautier was unable to identify this extra chromosome with his old low-resolution microscope. It was then that Jérôme Lejeune, researcher at the National Center for Scientific Research (CNRS) and student at Turpin, offered to have his slides photographed in a better equipped laboratory. Gautier accepted and gave them to him. It was May 1958. The young woman expected an article to be written, but nothing happened. “I did not see the photos: they were, they told me, with the boss, who was not communicative”, wrote Gautier many years later. “I had a strange feeling, an unsettling feeling, that in the end, this situation was going to leave me embarrassed.” About 3 months later, Lejeune attended a genetics seminar in Montreal where he talked about the “French discovery”, photos in hand.

The icing on the cake ? When the article first appeared in January 1959 in Proceedings of the French Academy of Sciences, not only Marthe Gautier had not been informed, but her first name appeared as “Marie” and her surname as “Gauthier”. And this name appeared in second place, after Jérôme Lejeune, which, she pointed out, was “contrary to the usual practice, where the first name is that of the researcher who designed and carried out the experiments”.

Since then, this discovery has been associated with Lejeune, who promoted it by presenting himself on the international scientific scene as the “discoverer” of the first human chromosomal abnormality – which, in 1960, the Denver Conference named trisomy 21. Lejeune devoted the end of his career to the study of this genetic disease, the subject of his thesis in 1961. That same year, he received the CNRS silver medal and, with Turpin, the Jean Toy prize. In 1962, Lejeune discovered trisomy 16. In 1964, he became a professor of genetics. And in 1969, he will receive the William Allan Prize, one of the most prestigious in the field of genetics.

Gautier left this field to devote the rest of his career to pediatric cardiology. “As for me, I felt a moral obligation, and following my deep convictions, I left this path to return to the one who would guide me to focus on the treatment of children with heart disease – an area in which, before this adventure, I had been deeply involved.” And with that, she clearly and simply ended her story.

But even though Gautier didn’t claim credit for getting the ball rolling on the discovery of the extra chromosome, his name wasn’t completely erased from history.

Inserm recognizes Gautier

The controversy began with the story published by The research, excerpts of which can be found in the magazine’s article on Gautier’s death. It was in 2009, 50 years after the fact. Fast forward to January 2014. As France Culture described it: “Marthe Gautier was about to receive the Grand Prize from the French Society of Human Genetics at a symposium in Bordeaux when bailiffs showed up, mandate in hand, to ensure, on behalf of Jérôme Lejeune, that his remarks would not harm the reputation of the late doctor. Organizers canceled her event and, in a private ceremony at her hotel, presented the then 88-year-old with her medal.

But it took the intervention of the National Institute of Health and Medical Research (Inserm) to confirm the decisive role that Gautier had played in the discovery. Its ethics committee was tasked with looking into the matter by a group of biologists outraged by the tactics employed by the Jérôme Lejeune Foundation, also known for its anti-abortion arguments. In a opinion published in September 2014, the ethics committee unambiguously took Gautier’s side, stating for all to see that “given the context at the time of the discovery of the additional chromosome, it is unlikely that Jérôme Lejeune’s participation in it was preponderant, if not in its non-conformity”. enhance the training of people (eg Marthe Gautier) which led to their acquisition of expertise (eg in cell culture), a fortiori when combined with a period of time spent outside of France (i.e. in the United States). “There is no doubt that Jérôme Lejeune promoted the discovery, but, as the ethics committee wrote, “this is different from making the discovery. And indeed, “the technical approach is a necessary condition for discovery” — and this is where Marthe Gautier played the “key role”.

To drive the point home, the ethics committee declared: “Given that the discovery of trisomy 21 could not have been made without the indispensable contributions of Raymond Turpin and Marthe Gautier, it is regrettable that their names have not been not been systematically associated with this discovery, both in the press and in the awarding of various distinctions.”

Curriculum vitae

Marthe Gautier was born on September 10, 1925 in Montenils (Seine-et-Marne), France. She did her graduate studies in Paris at the faculty of medicine and the faculty of science.

  • Medical student (1946), then intern (1951) at the Hospitals of Paris

  • Graduated in anatomical pathology (1952)

  • Pediatric cardiology dissertation with Robert Debré as thesis supervisor. Thesis subject: “Clinical Anatomo-Pathological Study of Fatal Forms of Bouillaud’s Disease (Acute Rheumatic Disease) due to Beta-Hemolytics Streptococcus Infection” (1955)

  • Researcher, Fulbright Foundation Fellowship, at Harvard University, Harvard Medical School, Boston, Massachusetts, USA (1955-1956)

  • Chief of internal clinic of the service directed by Raymond Turpin, head of the pediatric unit at the Trousseau hospital (1957-1960); creates the first cell culture laboratory in France (1957)

  • Medical attaché in Prof. Nouaille’s new pediatric cardiology department at the Kremlin-Bicêtre hospital (1958)

  • Founder and director of the anatomopathology department for hepatic diseases in children, at the request of Daniel Alagille, director of the Inserm 56 Pediatric Hepatology research unit, at the Kremlin-Bicêtre hospital (1966)

  • Developer and director of the cell culture department (1966)

  • Researcher (1967), then research director at Inserm

  • Counselor at the Hospitals of Paris (1978)

Honors and awards

  • Grand Prize in Human Genetics from the French Society of Human Genetics and the French Federation of Human Genetics for having demonstrated that there are 47 chromosomes in trisomy 21 (2014)

  • Officer of the Legion of Honor (2014)

This article has been translated of the French edition of Medscape.

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The Incredible Journey – PharmaTimes Magazine May 2022 https://www.novascotiadownsyndromesociety.com/the-incredible-journey-pharmatimes-magazine-may-2022/ Tue, 17 May 2022 05:25:51 +0000 https://www.novascotiadownsyndromesociety.com/the-incredible-journey-pharmatimes-magazine-may-2022/ Hayley Scutts reflects on an inspiring and fearless journey to a nursing career – which started as a patient My nursing journey began in 2014. By this time I had established a decade-long career designing a range of indoor furniture, but I also found myself in hospital and at the outside with […]]]>

Hayley Scutts reflects on an inspiring and fearless journey to a nursing career – which started as a patient


My nursing journey began in 2014. By this time I had established a decade-long career designing a range of indoor furniture, but I also found myself in hospital and at the outside with an undiagnosed illness for years.

After one of my surgeries, an advanced nurse practitioner saw me in the morning ward. She took the time to review not only my recovery from surgery, but all of my medical history.

She then went out of her way and put everything in place for me to finally get a diagnosis and the right treatment. This lady gave me my life back. She inspired me so much that until then I hadn’t realized the impact one person could have.

Every time I went to the hospital for treatment, I saw a banner “We need nurses” and that message went a little deeper each time. So I gave up my career, sold my car, signed up for a nursing access course and after passing it started a nursing degree at Oxford Brookes University .

My goal was to make a difference in people’s lives, the same way a dedicated nurse made a difference in mine.

Back to life

My first year of nursing was hectic – I got pregnant through IVF. My husband and I had been trying to conceive for years and due to complications we weren’t sure if it would be possible.

So we started our IVF journey alongside my nursing care. Unfortunately, that was not the case and we lost our baby. On the second attempt, however, we were incredibly lucky and nine months later gave birth to our son Lennon.

When Lennon was born he had to be resuscitated and spent the first few months of his life in a newborn intensive care unit in Bristol. He wasn’t expected to survive the ambulance trip, let alone the first week, but he proved everyone wrong.

We were also told he had trisomy 21, commonly known as Down syndrome. When he finally came home – and my maternity leave was over – it was time for me to return to nursing to complete the final two years of my nursing course.

Unfortunately, at this point, I was unable to afford the next two years of my degree. I was devastated by this, but we decided to make the best of it and moved to Cornwall in hopes of giving Lennon a better life.

feed a dream

I acted as an ‘independent living assessor’ for a charity, working alongside occupational therapists and physiotherapists to provide specialist mobility equipment for people with disabilities. We needed extra support with our son, so a year later we moved to Warwickshire where we were able to access more support. I joined the South Warwickshire Foundation Trust as an occupational therapy assistant and while in that role the opportunity arose to apply for the Nursing Associate Foundation degree at Coventry University.

I applied right away and was so excited to be accepted. It was my chance to be a nurse again! The course gave me the opportunity to work, earn a salary, learn and get a nursing degree. I started the Foundation Diploma in April 2018 and my passion and enthusiasm for nursing was even stronger than the day I made my initial decision.

The course came with so many different opportunities and experiences through internships and I embraced them all. I have been fortunate to take the apprenticeship route to work and learn from some of the most outstanding healthcare assistants, nurses, mentors and others in multidisciplinary teams.

The course certainly comes with its challenges and the biggest for me was balancing work, studies and family life. With the support of my lecturers, practice facilitators, and other members of my cohort, however, I pulled through. There was nothing that couldn’t be overcome, and each experience made me stronger as a nurse associate and as a person. I also made some lifelong friends along the way.

The influencer

Throughout my training, I have also devoted time to helping other members of my cohort with their university studies. Many of us had not had the opportunity to go to higher education but as I was in the first year of a nursing degree I was able to use my experience and knowledge to help others plan assignments, create their portfolios, and better understand things like SEO.

I qualified just after the coronavirus pandemic hit in late March 2020 and had applied for a position in the Intensive Care Unit (ICU) at Warwick Hospital. It has been a difficult time for all frontline staff with so many patients being admitted with COVID-19, but I am incredibly fortunate for the support I have received from my family and the Trust.

Throughout the pandemic, staff from different fields have joined us at ICU and even though I was not there that long, I have already found myself sharing my knowledge and helping to support teaching these new staff members. Then, when I returned from the student internships, I loved working with the students, sharing my knowledge and seeing them evolve throughout their internship.

I left the Trust a year and a half later to start the complementary course, but around the same time there was an advertisement for a position as assistant lecturer within the nursing associate team at Coventry University.

I was delighted to see that this position was open to an associate nurse as I always thought that a position like this would not be an opportunity for me until much later in my nursing career. . I felt that in this role I could bring my passion for both teaching others as well as anatomy and physiology.

I also realized that as the role of Associate Nurse was still a new post within the NHS, I would be able to share my own experiences with students. I applied for the job and got the job. So I started with the associate nursing lecturer team at the beginning of October last year.

I feel very privileged to now teach students at Coventry University and to have joined a great team. I am staying on the bank of shifts at the Trust as I want to try to keep my clinical skills up to date.

The message that we need more nurses has not changed. We need more passionate and caring people to join the profession and I would highly recommend an apprenticeship as an inspirational route to this enduring profession.





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Your Harlow https://www.novascotiadownsyndromesociety.com/your-harlow/ Fri, 13 May 2022 06:50:28 +0000 https://www.novascotiadownsyndromesociety.com/your-harlow/ AFTER two long years, Razed Roof made a triumphant return to the Harlow Playhouse stage. It was a showcase for much of their work. Some scenes of works created during the lockdown and some excerpts from previous shows. It was a wonderful celebration of their work. The audience loved it. They laughed heartily at some […]]]>

AFTER two long years, Razed Roof made a triumphant return to the Harlow Playhouse stage.

It was a showcase for much of their work. Some scenes of works created during the lockdown and some excerpts from previous shows.

It was a wonderful celebration of their work.

The audience loved it. They laughed heartily at some scenes (usually due to scene theft) and were extremely emotional at others.

The Asylum in Trisomy 21 expert was very emotional, but there was complete joy at the triumphant challenge of Assessment Hoop.

A lot of thought has to go into the productions. You have to because a lot of the ideas were so clever. “In Form” was a fantastic celebration of Harlow’s sculpture. The three stages, “Family Group”, “Meat Porters”, and “Eve”, cleverly integrated the three sculptures into their performance.

The show opened with a poem called Two Years written by Aaron Staines. The poem made you realize how difficult confinement was for people with learning disabilities.

But there was no self-pity here, only celebration and a sense of triumph.

It is also a theater group which is very proud of the town of Harlow and incorporates the town into many stories.

We particularly liked ‘A Load of Rubbish’ and an appearance from Harlow Labor leader Chris Vince, who, like method actor Daniel Day-Lewis, spent five years picking up rubbish in his service in preparation for this role.

Razed Roof can make you laugh and cry in an instant.

A tremendous amount of hard work must go into the production of all of their shows and especially the two back-to-back performances on Thursday.

There are plenty of unsung heroes out there, but Annette Lidster and her team have created a theatrical miracle with Razed Roof. A wonderful comeback.

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The global non-invasive prenatal testing market is expected to https://www.novascotiadownsyndromesociety.com/the-global-non-invasive-prenatal-testing-market-is-expected-to/ Tue, 10 May 2022 14:40:00 +0000 https://www.novascotiadownsyndromesociety.com/the-global-non-invasive-prenatal-testing-market-is-expected-to/ BRUSSELS, Belgium, May 10, 2022 (GLOBE NEWSWIRE) — The description: The non-invasive prenatal test (NIPT) is a method to determine the risk of the mother’s fetus being born with certain genetic abnormalities. NIPT is a safe and highly effective means of screening for conditions such as Down’s Syndrome, Edwards’ Syndrome, Patau’s Syndrome, Monosomy X, and […]]]>

BRUSSELS, Belgium, May 10, 2022 (GLOBE NEWSWIRE) —

The description:

The non-invasive prenatal test (NIPT) is a method to determine the risk of the mother’s fetus being born with certain genetic abnormalities. NIPT is a safe and highly effective means of screening for conditions such as Down’s Syndrome, Edwards’ Syndrome, Patau’s Syndrome, Monosomy X, and Turner’s Syndrome.

Currently, there are two types of NIPT methods that are commercially available, massive parallel sequencing (MPS) technology and single nucleotide polymorphism (SNP) based method.

Change toward VSell-free DNA screening

The discovery of cell-free DNA (cfDNA)-based NIPT has created a rapid shift in the paradigm of aneuploidy screening in pregnancy. This is a simple blood test that can be done during pregnancy. Clinical validation studies suggest that NIPT is more accurate than combined first trimester screening (CFTS), with very high sensitivity (99.3%) and specificity (99.9%) for trisomy 21 (trisomy 21 syndrome). Down). NIPT is also safer than other invasive diagnostic techniques such as chorionic villus sampling and amniocentesis, which carries a risk of miscarriage (0.1-0.2%).

Advent of the advanced Technologies for NIPT products

The advent of next-generation sequencing technology has enabled the sequencing of fetal DNA fragments that can be assembled into a complete genetic map, allowing the fetal genome to be scanned prenatally and non-invasively. Developments in molecular technologies and the discovery of cell-free fetal DNA in maternal plasma have also led to new methods of screening for fetal chromosomal aneuploidies.

Currently, various types of NIPT tests are available in the market such as Panorama, Vistara, MaterniT GENOME, Harmony Test, among others, which help in the detection of chromosomal abnormalities developing in the fetus. In addition, several changes have been made to impact the quality of care for pregnant women, such as:

  • In January 2022, QIAGEN entered into collaborations with Atila BioSystems to provide non-invasive prenatal testing (NIPT) solutions to the QIAGEN dPCR franchise.
  • In June 2021, Illumina and Next-generation Genomic Thailand announced the launch of VeriSeq NIPT Solution v2 based on next-generation sequencing (NGS) in the country, which helps detect abnormalities missed by targeted testing.

Prenatal care is a dynamic and ever-changing field. Development in new molecular technologies and the discovery of cell-free fetal DNA fuel revolutionary advances improving maternal and child care and providing parents with reproductive options. Main directortor, Head of Product Research and Development, Sequencing and array-based Company, United States

Main challenges/constraints: Non-Invasive Prenatal Testing Market

Some of the major challenges limiting the growth of the non-invasive prenatal test market are stringent government regulations and limitations of NIPT such that despite its high accuracy, it is still considered a screening test.

North America: Largest NIPT market

North America is the largest market for NIPT with over 45% revenue share, followed by Europe. The increasing prevalence of genetic disorders in newborns coupled with increasing maternal age, wider adoption and the presence of leading players working on fetal and neonatal care in this region are some of the one of the main factors driving the North American market.

The NIPT market in Europe is expected to grow significantly over the forecast period owing to the adoption of latest technologies, new product launches and a strong reimbursement framework for such tests in the region. The Asia-Pacific region is expected to witness the highest CAGR in the coming years.

Competitive landscape Analysis: Non-Invasive Prenatal Testing Market

Some of the major players operating in the global non-invasive prenatal testing market are Agilent Technologies, BGI Genomics, Cradle Genomics, Berry Genomics, Sequenom, Roche (Ariosa Diagnostics), among others.

Explore detailed information about Global Non-invasive prenatal screening (NIPT) Market @ https://meditechinsights.com/non-invasive-prenatal-testing-market/

About Medi-Tech Insights:

Medi-Tech Insights is a business research and analytics company focused on healthcare. Our clients include Fortune 500 companies, blue chip investors and hyper-growth start-ups. We have successfully completed more than 100 projects in digital health, health informatics, medical technology, medical devices and pharmaceutical services.

Contact We:

Ruta Halde
Partner, Medi-Tech Insights
+32 498 86 80 79
info@meditechinsights.com

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Garrett I. House, 42, of Watertown https://www.novascotiadownsyndromesociety.com/garrett-i-house-42-of-watertown/ Tue, 10 May 2022 03:21:00 +0000 https://www.novascotiadownsyndromesociety.com/garrett-i-house-42-of-watertown/ Garrett I. House, Watertown, died on Sunday May 1, 2022 at his home at the age of 42.(Source: Funeral Home) WATERTOWN, New York (WWNY) – Garrett I. House, Watertown, died Sunday, May 1, 2022 at his home at the age of 42. A call time will be held Thursday, May 12, 2022 beginning at 11:00 […]]]>
Garrett I. House, Watertown, died on Sunday May 1, 2022 at his home at the age of 42.(Source: Funeral Home)

WATERTOWN, New York (WWNY) – Garrett I. House, Watertown, died Sunday, May 1, 2022 at his home at the age of 42.

A call time will be held Thursday, May 12, 2022 beginning at 11:00 a.m. at Reed & Benoit Funeral Home. A prayer service will follow at 12 p.m.

He is survived by his parents Mark and Laurie (Conley) Houser, Watertown; his siblings Lauren Houser, Watertown, Ryan and Kristi Houser, Natural Bridge; maternal grandparents Sally Conley and Joseph Welch, Chaumont, Richard Conley, Chaumont; several aunts, uncles, cousins ​​and 8 nieces and nephews. He is predeceased by his wife Heather, his paternal grandparents George and Jean Houser and his maternal great-grandparents Ronald and Florence Anthony.

Garrett was born on December 9, 1979 in Syracuse, the son of Mark and Laurie Conley Houser. He attended Sacred Heart School and graduated from General Brown High School. He was employed by DOHL Services until he began his battle with cancer in 2020.

Garrett married the love of his life Heather Downey Gladle in a beautiful ceremony on August 12, 2018. Heather passed away on September 7, 2018.

Garrett was a kind and gentle soul who loved spending time with his family and friends, playing with his nieces and nephews, great music, especially the song “Simple Man”. He loved sports, especially the NFL, Buffalo Bills and WWE Raw.

Memorial contributions may be made to the Trisomy 21 Foundation of Northern New York, c/o Alicia Bach, 130 West Street, Black River, NY. 13612.

Online condolences can be made at www.reedbenoit.com.

Copyright 2022 WWNY. All rights reserved.

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New prenatal genetic tests pose underappreciated ethical dilemmas https://www.novascotiadownsyndromesociety.com/new-prenatal-genetic-tests-pose-underappreciated-ethical-dilemmas/ Thu, 05 May 2022 11:00:29 +0000 https://www.novascotiadownsyndromesociety.com/new-prenatal-genetic-tests-pose-underappreciated-ethical-dilemmas/ Imagine that you are a future parent. Just a few months into your pregnancy, you opt for easy genetic testing. One result comes back: The fetus is likely missing a piece of DNA at site 11.2 on the long arm of the 22nd chromosome, a variant associated with serious medical and developmental problems. You go […]]]>

Imagine that you are a future parent. Just a few months into your pregnancy, you opt for easy genetic testing. One result comes back: The fetus is likely missing a piece of DNA at site 11.2 on the long arm of the 22nd chromosome, a variant associated with serious medical and developmental problems.

You go online and learn that at least 1 in 4,000 people have this “22q11.2” microdeletion, but the true number may be much higher. You’ve read about the more than 180 symptoms of 22q11.2 deletion syndrome, including heart defects, hypocalcemia, intellectual disability, autism, and schizophrenia. You learn about the confusing treatment guidelines, the specialty clinics scattered across the country, and the vibrant patient advocacy movement led by the International 22q11.2 Foundation.

Yet the same pathogenic variant – a genetic change or ‘mutation’ known to cause the disease – has been found in people with much milder symptoms, and some who seem barely affected. No one can give you solid risk factors because our knowledge of 22q11.2 deletion syndrome (also known as DiGeorge syndrome) is riddled with “verification bias”: only people with telltale problems are likely to be tested.

Faced with such profound uncertainty, what do you do? Follow up with traditional diagnostic tests, with their invasiveness, discomfort and low risk of miscarriage? And if the result is confirmed, do you terminate the pregnancy?

This type of dilemma is becoming commonplace due to a revolutionary non-invasive prenatal screening technology, known as NIPT or NIPS, which can detect genetic variants as early as nine weeks of pregnancy using a simple sample of mother’s blood. NIPT platforms screen millions of tiny fragments of circulating DNA that are no longer locked up in cells; they float freely. Most of these “cellular-free DNA” (cfDNA) fragments come from the mother, but some will also come from the fetus. NIPT platforms count cfDNA from different segments of the genome to detect variants in the fetus. If, for example, there are fewer cfDNA segments from the 22q11.2 region compared to others, the fetus will be flagged as “high risk” for 22q11.2 deletion syndrome.

In short, it is a screening for the risk of a disease rather than a diagnostic tool, but NIPT avoids the inconvenience of invasive tests such as amniocentesis and the risk that these tests carry. It is also increasingly covered by major insurers.

Prenatal screening is big business. The annual NIPT market already exists $4 billion and grows rapidly; like other prenatal genetic tests, it is not regulated in the United States.

NIPT has already helped millions of families, including my own, rule out several serious genetic conditions early in pregnancy, while enabling many others to make informed reproductive decisions when screens detect a variant.

Like a front page article published in the New York Times described recently, NIPT is becoming a routine part of prenatal care, even though most fetuses who screen positive for rare diseases do not have the variant in question. Like many other screens, NIPT often subjects patients to an agonizing wait until other diagnostic tests sort through true and false positives. To be clear, only invasive tests like amniocentesis that analyze DNA taken directly from fetal cells can confirm a prenatal genetic diagnosis. Like a recent recommendation from the Food and Drug Administration belatedly revealed, NIPT companies and healthcare providers should be upfront about this.

But this issue of false positives only scratches the surface of the myriad dilemmas triggered by cutting-edge prenatal screening technologies such as NIPT and preimplantation genetic diagnosis (PGD) – a process in which a laboratory-fertilized embryo is screened for genetic disorders before being implanted in a womb.

So what about families whose positive NIPT or PGD result is confirmed by subsequent diagnostic tests? They are the ones who must then make the life-changing decision to continue or abort a pregnancy. What does this revolution in prenatal screening mean for them, for groups affected by genetic diseases and for society?

To address these questions, we need to look at the types of genetic conditions detected by the NIPT and DPI platforms. Down syndrome (trisomy 21) naturally dominates discussions of prenatal screening, but it is only the very visible tip of a much larger and murkier iceberg. For each genetic variant that explains a well-characterized condition, there is many others whose implications are much harder to pin down. Some produce symptoms that are consistently severe, while others are variable or mild, but due to verification bias we don’t know their true range of health and developmental effects. Some are very rare, others not; precise prevalence estimates are notoriously elusive. Cumulatively, however, these disorders are quite common.

If NIPT and PGD become as widespread and comprehensive as experts anticipate, many thousands of expectant parents will learn each year that their fetus has a pathogenic variant. But we won’t always be able to tell them what this means for the future of their potential child.

Companies often add genetic variants to their prenatal screenings as soon as their technology can detect them, and not because of careful assessments of severity or treatability. Early on, the NIPT expanded to include 1 in 1,000 people with trisomy X (people with three X chromosomes) or XYY syndrome (one extra Y). Most people with trisomy X and XYY are so mildly affected that they never referred for genetic testing. Whole extra chromosomes were just easy targets for new screening technology.

In recent years, NIPT has expanded to include a panoply of lesser-known and underdiagnosed disorders such as 22q11.2 deletion syndrome, 1p36 deletion syndrome, and many others. PGD ​​and invasive testing already includes these and many more. With fierce competition and rapid innovationit’s clear where this is headed: mass prenatal genetic screening for an ever-growing list of genomic variants.

NIPT and PGD therefore raise ethical issues that do not sit neatly in futuristic discussions of “designer babies” or entrenched abortion debates.

Identifying genomic variants in fetuses is becoming easier, but it will take years of investment to provide solid information, guidance and care to families facing genetic diagnoses.

Many more parents will face harrowing dilemmas regarding sex-selective abortion, the decision to terminate a pregnancy following a positive prenatal genetic test. Studies have shown that people often decide to terminate a pregnancy after discovering even mild genetic diseases such as trisomy X and XYY syndromes. After all, as disability rights advocates have done long underlinedincluding a condition on a prenatal genetic test implies that it may be incompatible with a “life worth living” – especially in a society that places an enormous burden on families raising a disabled, sick or differently developed child .

NIPT and PGD can transform the landscape of genetic disorders and differences. Many more people will come into the world with a diagnosis. But the very demographics of these genetic conditions can change as a result of screening and selective abortion. They are likely to become less common overall, but also geared towards people who are more religious or less able to access genetic testing and abortion services, namely people who are socio-economically disadvantaged or who live in solidly republican states. Paradoxically, patient advocacy groups dedicated to these conditions may end up with more members even as the populations they represent shrink.

With so many genetic variants, NIPT and PGD have profound implications for how we deal with disability and developmental differences as a society. It challenges us to envision a rapidly emerging future where prenatal genetic testing has complex eugenic effects, not because of coercive and racist government programs that date back to the early 20th century, but because thousands of legitimate decisions and extremely personal will transform the population. distribution of certain forms of disability and difference. This can be troubling for those of us who ardently support women’s reproductive rights. Nevertheless, noninvasive prenatal genetics is uncharted territory; we must grapple with the profound dilemmas it poses.

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Music Medicine Service Jason Isbell Performed at the Austin Library Last Night: Songwriter Delivers Phenomenal Solo for JoyRx Fundraiser – Music https://www.novascotiadownsyndromesociety.com/music-medicine-service-jason-isbell-performed-at-the-austin-library-last-night-songwriter-delivers-phenomenal-solo-for-joyrx-fundraiser-music/ Thu, 28 Apr 2022 18:51:53 +0000 https://www.novascotiadownsyndromesociety.com/music-medicine-service-jason-isbell-performed-at-the-austin-library-last-night-songwriter-delivers-phenomenal-solo-for-joyrx-fundraiser-music/ Jason Isbell performing at the Austin Central Library for a Children’s Cancer Association / JoyRx fundraiser. (Photo courtesy of Joy Rx/Bloom Communications) Among a crowd of well-heeled philanthropists and doctors at the Austin Public Library, I find an empty chair and introduce myself to the person sitting next to me. “Are you a donor? ” […]]]>

Jason Isbell performing at the Austin Central Library for a Children’s Cancer Association / JoyRx fundraiser. (Photo courtesy of Joy Rx/Bloom Communications)

Among a crowd of well-heeled philanthropists and doctors at the Austin Public Library, I find an empty chair and introduce myself to the person sitting next to me. “Are you a donor? ” I ask. “No,” she replies. “I’m a palliative care physician…and also a fan of Jason Isbell from Alabama.”

I ask her if she thinks the host and charity beneficiary of the night’s talks, JoyRx, did a critical job. “They do awesome work,” she said. “Medicine doesn’t go that far – music therapy is important.

The evening begins with an auction, with half of the packages focusing on music. A round of golf with Western Swing’s John Daly, Asleep at the Wheel frontman Ray Benson, cost $5,000. The 50 two-ticket packages to a private, local Band of Horses show sell for $500 each. A Gibson Les Paul, signed by Isbell, is also offered in the $5,000 range.

“I’ve played this guitar backstage and it’s a good guitar,” Isbell exclaimed later that night. “They’re heavy though – not sure if you’re a Les Paul guy, but get a wide strap.”

As if the buyer was planning to do concerts with it.

After the lively auctions, speakers tout the work of JoyRx and videos show young people – children struggling with hospitalizations, serious health issues, surgeries, developmental delays and terrible illnesses – having interactions positive and sometimes life-changing music. A local mother, whose son Julio has Down syndrome, testifies to the inspiring impact of the music program he participates in and notes that being able to express himself through choosing songs gives him a rare sense of control. Danielle York, CEO of the affiliated Children’s Cancer Association, announces that JoyRx, with an already established local presence, has opened a downtown office.

It’s an unusual introduction to a performance that bears no resemblance to a traditional show, including the setting: a brightly lit event space in the new Central Library where the stage is surrounded by a conference-style projection screen and The main visual ambiance consists of three light strings. Isbell, wearing a black-on-black suit and playing a custom Martin acoustic, casually walks in and the sound is dialed in as he plays “24 Frames.” From the second song, the las “Travelling Alone”, he is in his bag.

I love seeing esteemed conductors perform solo. It’s typically indicative of their unvarnished artistic nature – for better or for worse. The songwriter, whose name is usually followed by ‘& the 400 Unit’, delivers everything you want in this kind of performance, although he admits it doesn’t sound familiar: “It’s been a while that I didn’t play a set by myself – I like that, but I forget that if I stop playing… nothing happens.

The former Drive By Truckers member dwells on the intimate atmosphere of the evening, sharing witty and gripping anecdotes including the fact that he confessed to late song charmer John Prine that he had scammed “Hello in There” featuring “Traveling Alone” – to which Prine replied: “Oh no, no, no – you didn’t rip me off with that song.” Isbell follows him playing the even more Prine-esque “Last of my Kind.” “If We Were Vampires” (introduced with a tale by his wife, musician Amanda Shires, telling stop looking Accusers and write a song).

Considering this was a fundraiser appearance, I expect Isbell to play a handful of tracks, but the Alabama singer/guitarist instead plays what would have represented a full festival slot. Without his typically impressive backing band, his guitar dexterity and creativity are on display – haunting musical breaks on songs like “Only Children” that elicit mid-song applause. Her voice, going from relaxed to high-pitched and cutting in a hurry, sounds phenomenal throughout.

Isbell’s superpower, of course, is having one or more tattoo-worthy lyrics in every song, a strength epitomized by the closing pair “Speed ​​Trap Town” and “Cover Me Up,” which s installs with the line: “A heart on the run keep your hand on the gun, you can’t trust anyone. Although he briefly discussed the charity angle of the evening, except to say it’s a great cause, at the end of the set, the emotion is strong and anyone who has listened can clearly feel: the music is medicine.

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