How a blood test changed my life and helped me become a rare disease advocate

first_img Christopher Anselmo, who has a rare muscle disease, is studying for his MBA at Boston College. Kayana Szymczak for STAT Christopher Anselmo A rare disease killed her mother. Can this scientist save herself? About the Author Reprints What made it so difficult was the feeling of isolation. I no longer felt like I belonged to the world of the able-bodied. Worse, I didn’t know anyone who truly understood my situation.After growing tired of sulking, I slowly picked myself up. I decided to focus on what this disease could not take away from me. One event that helped me was a conference I attended in 2013 sponsored by the Jain Foundation — an organization whose mission is to find a cure for my disease. There I finally met other people with dysferlinopathy.It was an uplifting experience, one that I wish happened years earlier. These people got it — they knew what it felt like to go from ability to disability right when the whole world was finally at your fingertips. I didn’t have to explain to them what I was feeling; they understood just through eye contact and a handshake. First OpinionHow a blood test changed my life and helped me become a rare disease advocate The rest of that year, my senior year of high school, was a long, frustrating diagnostic odyssey. It took 10 months to confirm I had dysferlinopathy. I thought it was an odd diagnosis, since I felt perfectly healthy and loved to play basketball.Since there aren’t any treatments for dysferlinopathy, it was only a matter of time before symptoms appeared. When they did, announcing the appearance of the disease with fatigue and falls, my life dissolved into turmoil. The physical challenges were formidable, but the mental challenges were often worse. I suffered from panic attacks and fell into a deep depression.advertisement Kathy Giusti: The businesswoman who took on her own cancer Tags dysferlinopathymuscular dystrophyrare diseases Being an advocate for my disease has pushed me toward a career in health care. One goal that dysferlinopathy could not take away from me was to get my MBA. I’m now enrolled in the graduate school of management at Boston College, graduating in May. It is not the easiest campus to navigate with a muscle disease, but I am not letting logistics get in the way of my goals.Over the years, I have met many other people who are living with rare diseases of their own. No one wants to be in this club. But once you are ready to accept membership, I’ve found that there is a community out there who will embrace you with open arms.On Monday I’m marking Rare Disease Day by speaking at a ceremony at the Massachusetts State House. This celebration is a great reminder that when all of us with rare and mystifying diseases are put together, we are one big community, and we are not alone on this journey.Christopher Anselmo is a student in the Carroll School of Management at Boston College. He blogs at By Christopher Anselmo Feb. 29, 2016 Reprints Related: A car crash changed my life. The accident itself hardly mattered — I walked away sore but unhurt. Instead, a post-crash blood test sounded an early warning for a rare disease that would spin my life in directions I could never have anticipated.I have dysferlinopathy, also known as Miyoshi myopathy and distal muscular dystrophy. My body has trouble making a protein called dysferlin, which is needed to build and repair muscle tissue. Without functional dysferlin, the muscles in my body have been wasting away for the last eight years, when I first started experiencing symptoms.My journey with this rare disease — it affects about four people in a million — started with a car crash in my hometown of West Hartford, Conn., in 2003. A pickup truck plowed into the passenger side of my friend’s car, where I was sitting. Somehow, I emerged uninjured. But routine tests in the emergency room showed an alarming amount of creatine kinase, a marker of muscle damage, in my bloodstream. Instead of hovering around 200, my level was in the tens of thousands.advertisement @Chris_Anselmo Related:last_img read more

ÖBB signs 700-coach framework agreement

first_imgAUSTRIA: Austrian Federal Railways and Siemens Mobility have signed a five-year framework agreement for the supply of up to 700 coaches with a potential total value of €1·5bn, with an option to extend the agreement beyond 2023.ÖBB has placed an initial firm order for eight nine-car rakes to replace EuroCity stock which cannot be used on routes to Italy from 2021 because of changes to fire regulations. The order also includes 13 seven-car rakes to replace or augment vehicles currently uses on Nightjet overnight services. The coaches from Siemens’ Viaggio family will be produced at the manufacturer’s Wien plant for entry into service from 2022.Tendering for the contract was interrupted last year after a legal challenge to specification changes made at a late stage. Siemens was named preferred bidder on July 20 this year, and the signing of the contract was announced on August 17. The framework covers first and second class coaches, driving cars, multipurpose cars and sleeping and couchette cars. Siemens said the basic variant for daytime use would be a low-floor coach with ‘extra-wide’ doors to facilitate rapid boarding and alighting. The daytime rakes would have 520 seats, while the night trains would offer 100 seats and 160 couchette berths. The coaches will have LED interior lighting, air-conditioning and a fresh air supply regulated by the CO2 content in the interior air.The vehicles are intended to operate in Austria, Germany, Italy and Switzerland, and there are options to add Croatia, the Czech Republic, Hungary, Poland, Slovakia and Slovenia.‘Being awarded one of Europe’s largest passenger coach tenders shows that our Viaggios are the benchmark for modern long-distance transport’, said Siemens Mobility CEO Sabrina Soussan. ‘Viaggio passenger trains offer great flexibility across borders as well as state-of-the-art passenger comfort, combined with low maintenance costs and high operational availability.’last_img read more

Zimbabwe central bank says cash shortages affecting tourists

first_imgA vendor sell tourists a bunch of worthless bearer’s cheque notes on June 29, 2018 in the resort town of Victoria Falls. – After nearly two decades in the doldrums, Zimbabwe’s tourism sector is enjoying a rebound, with visitors returning in droves to see the majestic Victoria Falls and explore unspoilt safari reserves. (Photo by Zinyange AUNTONY / AFP) (Photo credit should read ZINYANGE AUNTONY/AFP/Getty Images) A vendor sell tourists a bunch of worthless bearer’s cheque notes on June 29, 2018 in the resort town of Victoria Falls. (Photo credit ZINYANGE AUNTONY/AFP/Getty Images)Zimbabwe’s central bank on Friday said the ongoing cash shortages are affecting foreign visitors to the country.The bank is controlling the supply of money in the economy to curb inflation that has begun to rise rapidly in recent months, Reserve Bank of Zimbabwe Governor John Mangudya said in his 2019 midterm monetary policy statement.“The increase in the demand for physical cash has worsened cash shortages, as reflected by unending queues at most banks in the country,” he said. “In addition, visitors to the country, including tourists, are failing to access cash for their domestic transactions, as they are supposed to buy local currency cash from banks or bureaux de change.”Failure to get cash is undermining confidence in the local currency and forcing economic agents to resort to illegal transactions in foreign currency and to selling cash at a premium, Mangudya said.As part of monetary reforms, Zimbabwe in June banned the use of the multi-currency regime that was introduced in 2009, and reintroduced the local currency that is currently made up of electronic money known as the Real Time Gross Settlement (RTGS), bond notes and coins.Early in February, the central bank introduced the inter-bank foreign currency market to curb rampant foreign currency trading on the parallel market and to harness foreign exchange through the formal market.As a result, Mangudya said, about 799 million U.S. dollars worth of foreign currency had been traded on the inter-bank market since its introduction.The central bank said it is moving toward bringing inflation under control and to lower it over time.To tame inflation, the central bank raised its overnight lending rate from 50 percent to 70 percent.“The bank expects inflation to start declining after the current high inflation cycle ends, as attested by ebbing exchange rate depreciation pressures, following the removal of the multi-currency system,” Mangudya said.He said the monetary reforms are aimed at easing current inflationary pressures.Inflation, at 5.39 percent in September 2018, surged to 175.5 percent in June 2019, mainly reflecting the exchange rate price indexation in an environment of high premiums in the parallel market.“The policies being pursued by government will undoubtedly tame the inflationary pressures currently bedeviling the economy,” Mangudya said.Related Zimbabwe’s central bank governor to get second term Zimbabwe’s Central Bank unveils eight measures to fix the cash crunchcenter_img Zimbabwe central bank eases forex rules for fuel, chrome minerslast_img read more

Martin Truex Jr. comes up just short of fairytale finish with Furniture Row

first_imgMartin Truex Jr. came up just short of a fairytale finish.Truex, moving to Joe Gibbs Racing in 2019, tried to go out on a high note with Furniture Row Racing, which is closing shop after the 2018 season that wrapped up Sunday at Homestead-Miami Speedway. “Everything about it has been great,” Truex said on NBC. “Everything about it has been the best thing I’ve ever been a part of. You know, I feel good about my future and going to a great place, and I know we’ll have more success. But it’s going to be different.  You know, it’s going to be a different team, a different cast of characters, and these guys were a special group, and I’m very thankful to get to work with all of them. … It’s just been a good ride. It’s been a good run, and I hate to see it come to an end, but everything ends somewhere.”In his time with Furniture Row, Truex Jr. won 17 Cup Series races, eight in his championship season last year. He had 56 top-fives racing the No. 78 Toyota, counting Sunday’s runner-up finish.He’ll drive the No. 19 Toyota for JGR next season, with crew chief Cole Pearn joining him on the new team. NASCAR results at Homestead: Joey Logano wins race, claims first series championship He finished second to Joey Logano, who passed Truex with 12 laps to go to win the Ford EcoBoost 400 and the Cup Series season championship.So instead of defending his 2017 title, Truex was left to thank his team for a lot of memories over the past five years. Related News So Sunday was for reflection, as Truex reacted not only to the second-place finish but also his five-year run with Furniture Row during which he became a NASCAR star.“I’m gonna miss these guys,” Truex said of his Furniture Row teammates. “I wish we could have won it. We had it. We were able to get the lead, I was just slow for 15 laps. I just couldn’t do it. I don’t know what else I could have done. He passed me so fast I didn’t even have a chance to do anything.“Not the way we wanted to go out, but hell of an effort. Been the best time of my life. I don’t know what else to say.”last_img read more