‘Sickle Cell and Thalassemia Screening – What Parents Think’

Parent’s Stories’ is a new report that has been launched containing experiences from parents of African, Caribbean, Middle-Eastern, Asian and Mediterranean origin who have been through the United Kingdom’s National Health Service (NHS) Sickle Cell and Thalassemia Screening Program and who were at increased risk of having a baby with either sickle cell or Thalassemia, two serious genetically inherited blood conditions. The report stems from a successful collaborative project between the Screening Program and two patient representative organizations – the Sickle Cell Society (SCS) and United Kingdom Thalassemia Society (UKTS). The project aimed to determine any barriers affecting the timeliness of the offer of screening and prenatal diagnosis (PND) to couples and recommend ways of improving screening services.  As part of the project,  ‘at –risk’ couples who each carried a gene for sickle cell or Thalassemia who had been through antenatal screening within the last five years were interviewed and their shared stories made up the rich evidence contained in the ‘Parent Stories’.
Some Key Points that emerged:
  • Most women had told their doctor (GP) about their pregnancy early on and already knew their sickle cell or Thalassemia status before becoming pregnant.
 
  • Parents said some healthcare professionals (including some GPs) did not have much knowledge of the conditions or the screening pathway and did not recognize the need for prompt referral to counseling and PND. Parents wanted prompt referral or ‘self-referral’ to specialist nurses and midwives at the Sickle Cell and Thalassemia Centers as from their experience this speed things up.
 
  • Parents also wanted to meet individuals who were living successfully with sickle cell or Thalassemia and to be put in touch with patient organizations who could find someone in the community to support them.
 
What Happens Next?
These parent stories are an invaluable resource for people commissioning services and working in the Screening Program and have contributed to a report with recommendations for community organizations, the public and screening service providers.
The full ‘Parent Stories’ report is available at:
 
For hard copies please email: info@sicklecellsociety.org

How We Can Eliminate Sickle Cell as a Community

During Sickle Cell Awareness Month make a pledge to start a conversation with co-workers, neighbors and  friends about the importance of knowing their sickle cell status.

Statistics on Sickle Cell Disease continue to rise because no one IS willing to start a conversation. How many people do you know have talked about starting a family, but never considered the importance of knowing their Sickle Cell status?

Many states now require children to be screened at birth for Sickle Cell disease but as adults, no one remembers or considers the importance of knowing if they carry the Sickle Cell trait?

If  both the mother and father have the Sickle Cell trait, they run the risk of having a child born with Sickle Cell. This is not to put blame on anyone, but rather encourage our community to get educated about SCD.

The Jewish community lowered statistics on Tay-Sachs disease by 95% through vigilant screening programs and a commitment to educate people. Their plan enlisted the support and infrastructure of the Jewish community to host screenings at synagogues and community centers. The support of Rabbi’s was also a big factor in the success of their efforts.

http://www.checkorphan.org/news/how-the-jewish-community-beat-tay-sachs

It is our goal to understand why African American and Hispanic communities are unwilling to do the same. How can the Sickle Cell Community obtain support from churches and ministers, civic organizations and the medical community to get everyone to check their Sickle Cell status?

It is so important to start conversations about Sickle Cell disease so that future generations will never have to worry about ” breaking the Cycle.”

Tell us what you think. Read the article about how the Jewish community beat Tay-Sachs disease and let us know if you think we can do the same for Sickle Cell Disease ?

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United to Conquer Sickle Cell Disease

Post from Sickle Cell Disease Coalition: http://www.scdcoalition.org/get-involved.html

Get Involved

People with sickle cell disease (SCD) are afflicted on two fronts – one by having a serious, chronic condition that inflicts pain and other complications – the other by a fragmented system of care.

Even though we know what causes SCD, there is only one approved treatment and no widely available cures. Individuals with SCD suffer from severe pain and infections with devastating complications such as brain injury, stroke, organ damage, and premature death. People with SCD are often unable to access quality care and the treatments they need.

The status quo is unacceptable, and we are setting out to change it.

Today, there are opportunities to transform this disease and the way we care for people with SCD. We are launching an international call to action on SCD by bringing together researchers, clinicians, individuals with SCD and their families, policymakers, and the private sector to focus our collective efforts and change the state of SCD around the world.

The time is now to change the course of this disease. Here’s how you can join us:

As an Organization

  1. Pledge to take on activities or programs that will move the needle on SCD. Advocacy organizations, government agencies, companies, policymakers, and foundations can contact us at coordinator@scdcoalition.org to share how they plan to help us transform SCD.

As an Individual

  1. Spread the word about the need to improve the state of SCD. Share our video and SCD fact images on social media. Use #conquerSCD to highlight our cause.
  2. Encourage your Member of Congress to join the Congressional Sickle Cell Disease Caucus.
  3. Read the report State of Sickle Cell Disease: 2016. This report was compiled by the American Society of Hematology based on the feedback of more than 100 thought leaders and has been endorsed by several organizations.

Living Well with Sickle Cell Conference

Sickle Cell Conferences and Events

The Sickle Cell Disease (SCD) Program at Children’s National invites you to the 7th Annual Family Education Symposium on “Living Well with Sickle Cell”.
Saturday, October 29, 2016 11:30 AM – 4:30 PM
Sheikh Zayed Campus for Advanced Children’s Medicine Children’s National Health System 111 Michigan Ave NW, 2nd Floor, Auditorium
Washington, DC, 20010
This year’s symposium will focus on helping patients and their families manage sickle cell disease while living life to the fullest.
http://childrensnational.org/news-and-events/event-calendar/community/7th-annual-family-education-symposium-updates-in-sickle-cell-disease

Safer Bone Marrow Transplants: Sickle Cell

Harvard Stem Cell Institute (HSCI) scientists have taken the first steps toward developing a treatment that would make bone marrow – blood stem cell – transplantation safer and, as a result, more widely available to the millions of people living with blood disorders like sickle cell anemia, thalassemia, and AIDS.
Bone marrow transplantation currently is the only curative therapy for these blood diseases. But, for the new, transplanted stem cells to do their work, the faulty stem cells must first be “evicted” or killed. Accomplishing that requires patients endure chemotherapy and radiation — a vicious assault on the body with life-long consequences.
In a study recently published in the journal Nature Biotechnology, HSCI researchers at Harvard University and Massachusetts General Hospital (MGH), in collaboration with Boston Children’s Hospital and Dana Farber Cancer Institute, have developed a non-toxic transplantation procedure using antibodies to specifically target blood stem cells in mice, an approach they hope will make blood stem cell transplants for these patients far less toxic.  The new treatment removes more than 98% of blood stem cells, making it as effective as chemotherapy and radiation.
“Instead of using non-targeted drugs that have lots of collateral damage we thought we could take advantage of the precision of the immune system, in particular, antibodies,” said David Scadden, MD, Co-director of HSCI, the Gerald and Darlene Jordan Professor of Medicine at Harvard University, and senior author on the paper.
As part of the immune system, antibodies naturally seek and destroy foreign agents in the body. Rahul Palchaudhuri, a postdoctoral fellow in Scadden’s lab and first author on the paper, armed CD45-targeting antibodies with a payload that destroys only existing blood cells. The payload kills cells by means other than genetic destruction, in contrast to the current standard treatments.
“Antibodies are remarkably specific in what they target,” said Palchaudhuri, a chemist by training, with a background in cancer research. “We can direct them to CD45, a cell marker which is exclusively expressed in the blood system. That way we avoid toxicities to non-blood tissues.”
Unlike chemotherapy and radiation — which indiscriminately damage cells and tissues, healthy or otherwise — the CD45-targeting antibodies leave the thymus and the bone marrow, environments critical to the formation of T cells and innate immune cells, unharmed. Animals receiving the antibody treatment were able to withstand infection that was lethal to mice treated with radiation. Currently, infections after transplant are common and may be severe, causing death in a substantial number of people.
About one in ten patients do not survive transplantation following the standard treatments. Those who do may suffer from stunted growth and intellectual development, infertility, and damaged DNA; at present, patients can only attempt a curative transplant by increasing their risk of developing cancer later.
Because of this, families and doctors often shrink from transplant options, particularly when it comes to treating children, and it will limit the extent to which the breakthroughs in gene therapy and gene editing will be applied, explained Scadden, who is a practicing hematologist at MGH and chairman of Harvard’s Department of Stem Cell and Regenerative Biology.
Animals that received the antibody treatment had a broad ten-day window within which they could accept a bone marrow transplant, and individuals that did not receive a bone marrow transplant were able to fully recover without adverse effects. Furthermore, mice suffering from sickle cell anemia were successfully transplanted using the antibody method and cured of their anemia. Should the same hold true for humans, what amounts to months of recovery in a hospital bed may be replaced by an outpatient procedure, and a failed transplant would not be fatal.
“If this approach works in humans, it will really change the conversation that providers have with patients,” Scadden said, especially for those “who have these underlying genetic disorders and for who the new gene-editing and gene therapy techniques are being developed.”  The scientists are now trying to identify antibodies that would be effective in humans, and a company has been formed to move the work towards translation and determine which models are most useful in a preclinical setting.
“It brings precision medicine into the area of transplant in a way that hasn’t been there and is needed,” Scadden said.

http://www.eurekalert.org/pub_releases/2016-06/hms-nac060616.php

Living With Sickle Cell: ‘I Don’t Know What It Means to Be Without Pain’

It’s World Sickle Cell Day, and we’re taking a look at the chronic pain and regular hospitalizations that are the reality for many suffering from sickle cell disease.

 
Arm of patient with drip

Nikki Peterson, like approximately 100,000 other Americans, was born with sickle cell anemia. The 43-year-old lives in Upper Marlboro, Md., and ends up in the hospital about four times during what she calls a good year.

Once a month, she undergoes a grueling process called hemapheresis. All of the blood is removed from her body, the platelets and plasma are separated out and returned to her, and then Peterson is given 8 to 12 units of packed red blood cells. This helps to mitigate the pain she lives with every day.

“I don’t know what it means to be without pain. I have nothing to compare it to,” Peterson tells The Root from her bed at Doctors Community Hospital in Greenbelt, Md. “I have what I call my normal pain, and my pain where I need to be in the hospital. They always ask what your pain scale is from 1 to 10. I function on a normal person’s 7 to 8. It’s like my 2.”

The monthly process Peterson lives with takes two days. One to have her blood drawn to find a compatible donor and have the level of hemoglobin in her blood tested, and another for the transfusion procedure. This is one method of helping people with sickle cell disease reduce pain crises, the risk of stroke and other complications. People who suffer with the inherited blood disorder have red blood cells that contain mostly hemoglobin S, which sometimes become sickle cell-shaped, become stiff, and have difficulty passing through small blood vessels. That means less blood can get to parts of the body, and the tissues there become damaged. It hurts.

“It’s the only way I know how to live,” says Peterson, who had to leave her beloved job as a special education teacher because of sickle cell. “In 2002, I had a crisis in my back and it cracked four vertebrae and put me on permanent disability. I started having seizures, and I’m a stroke patient.”

Sonja Banks, president of the Sickle Cell Disease Association of America, says more than 6 million people in the world; mostly in sub-Saharan countries throughout Africa, as well as in Turkey, Greece and India, have one of the several types of sickle cell disease. This puts them at risk for everything from pain episodes in their arms, legs, chest and abdomen to damage to most organs, including the spleen, kidneys and liver.

“It’s actually more of a brown disease, though, internationally, there are more non-African Americans,” Banks explains. “In the U.S., the majority of those who have it are African American, and the next would be Hispanics.”

She says beyond the blood transfusions that allow doctors to punch out some of the bad cells and replace them with better cells, and penicillin for babies, for most sickle cell patients the only help is pain medicine. Banks says the only other treatment is the drug hydroxyurea, a cancer medication that has worked in some patients. Though the sickle cell health community is fighting to get more treatment for the disease, Banks says other illnesses, such as cystic fibrosis, get more medication and attention. She thinks some of this is because many who suffer from sickle cell disease are people of color.

“There’s definitely some disparity, and part of it has a lot to do with race … particularly in the U.S.,” Banks says.

The international community, including UNESCO and the World Health Organization, works to raise global awareness of the disease with World Sickle Cell Day, celebrated annually on June 19. That date is also Juneteenth, known in the U.S. as the oldest-known celebration of the ending of slavery. On that date in 1865, Union soldiers landed in Galveston, Texas, with the news that slaves were free, two years after President Abraham Lincoln’s Emancipation Proclamation. Events are scheduled this year from the Republic of Congo to Ghana and Nigeria to Atlanta and Fort Worth, Texas, some combining sickle cell awareness with the commemoration of Juneteenth.

Drug companies such as Pfizer, along with Banks’ organization, are urging more people of color to get involved in clinical drug trials so that a new drug to fight sickle cell disease can be found. Researchers at Pfizer are working on a potential therapy that is in Phase 3 clinical testing, and doctors there are trying to educate diverse populations about the trials because 1 African American in 500, and 1 Hispanic in 36,000 in the U.S. are affected by sickle cell disease.

“Statistics show that most clinical trials … the minority participation has been very low, so most that get into clinical trials are white Americans,” Banks says. “If you look at other diseases such as diabetes, and look how many drugs that are now on the market for those diseases, the majority got to the market because of white Americans. … So now we look at [sickle cell disease] where a majority of those with it are minorities … it’s a huge disparity, and if we as African Americans don’t get into clinical trials, we won’t see drugs come to the market and we won’t get a cure.”

Banks says she realizes many blacks are deterred because of the 1932 Tuskegee experiment, when hundreds of African-American men weren’t told they were part of a study, were exposed to syphilis and were not given treatment to cure the disease. She notes that government regulations on clinical trials have come a long way since then, and that with an informed and educated community, such a thing could never happen again.

Peterson has been involved in two clinical trials. One, at Johns Hopkins, through the National Institutes of Health, ran for a year, which provided everything from hospitalization, to transportation to the hospital around the clock, to a stipend. The 2014 clinical trial also helped Peterson with the thing she needs the most.

“They also provided pain medication. I never understood when I was younger why Grandma didn’t take her pain meds until now, because when it comes to the point where I have to decide ‘Do I pay my rent, buy groceries or pain medication?,’ that becomes a hard question to ask,” Peterson says. “But the greatest thing was that whenever I got sick, I had somewhere to go.”

Peterson says on World Sickle Cell Day, she wants people to focus on the fact that sickle cell disease affects people from all walks of life and on many continents in the world.

“It’s a disease that is a health epidemic, and we do need to find a cure for all patients,” Peterson says, “regardless of what continent, what skin color, what eye color. It’s a world disease.”

NIH: Sickle Cell in Focus

Sickle Cell Conferences and Events
Hemoglobinopathy Counselor Training Course will be held on April 7-8, 2016. The two-day course, presented by the Cincinnati Comprehensive Sickle Cell Center, will be held at Cincinnati Children’s Hospital Medical Center. The course registration fee is $150. The deadline to register is March 24, 2016 and registration is limited. For more information, including a course brochure, please email: SCDEvents@cchmc.org Registration is also available online at www.regonline.com/2016scdcounselorcourse

Event: Sickle Cell in Focus (SCiF) 2016, National Institutes of Health, Bethesda, Maryland, USA
Date: Thursday 2nd – Friday 3rd June 2016
Venue: Natcher Conference Centre, National Institutes of Health, Bethesda, MD 20894 USA

The 10th Sickle Cell in Focus conference returns to the USA in June 2016. Sickle Cell in Focus is an internationally renowned educational update for sickle cell disease. It attracts a wide audience of clinicians, academics and other healthcare professionals involved in the disease from around the world.

Website: http://www.ststn.co.uk/scif/sicf2016/
To book: Free registration will be opening soob. If you would like to be kept up-to-date, please join the STSTN mailing list by sending an email to: info@ststn.co.uk
Contact details: info@ststn.co.uk / @STSTNetwork / www.ststn.co.uk

Marrow transplant frees sickle cell sufferer from pain

 

http://www.usatoday.com/story/news/nation/2015/01/29/marrow-transplant-frees-sickle-cell-sufferer-from-pain/22557607/
ROCHESTER, N.Y. — With sickle cell anemia, it’s never just one kind of pain.
Sometimes it’s a vicious ambush, fast and pulsating. Sometimes it settles in slowly and stays for days, throbbing deep in the bones.
Sometimes the pain is in one spot. Sometimes it’s in three. Sometimes it’s everywhere, hundreds of knives, jabbing and cutting from head to toe, grinding down the body and foreclosing on any hope for the future.
“It’s the worst feeling in the world,” said Stephanie Ramos of Irondequoit. “It’s like your body is attacking its own self. Beating up on its own self. … It’s a horrible disease. I hate it.”
Ramos knows sickle cell anemia well. She was born with it 25 years ago. Doctors told her mother then that she would be lucky to reach adulthood; each birthday was a celebration and, quietly, a foreboding.
What would the next year bring? How many crises, how many trips to the hospital? How much more to be endured, and for how much longer?
It’s a disease of pain, and three years ago, Ramos was exhausted by it.
Wixon: Sickle cell disease can’t hold back Lincoln’s Tafari Witter through sporting, academic endeavors
http://www.dallasnews.com/sports/high-schools/headlines/20150216-wixon-sickle-cell-disease-can-t-hold-back-lincoln-s-tafari-witter-through-sporting-academic-endeavors.ece

Tafari Witter is near midcourt, bent forward, tugging on the bottom of his shorts, trying to catch his breath. A substitute is headed to the scorer’s table, but Witter looks over to the sidelines and, with a wave of his hand, indicates he’s not leaving the game.
It might be the only time that Lincoln’s starting point guard doesn’t have his priorities straight.
Witter is a razor-sharp student who is on track to be valedictorian of Lincoln’s Class of 2015. He loves Advanced Placement Calculus BC, is part of the Dallas ISD’s Future Leaders Program and in the fall will attend Texas, where he eventually wants to get a master’s degree in business administration.
NBA point guard Derrick Rose is among the people who inspire him, but so is a star from a very different arena: theoretical physicist Stephen Hawking.
Lincoln coach Cedric Patterson smiles when he hears that.
“He’s a unique kid,” Patterson said.
Witter is so unique, and interesting, and engaging, it’s hard to squeeze his sickle cell disease into the conversation. And he likes it that way.

Minorities and Blood Donations

African American Blood Drive for Sickle Cell Disease Awareness

Although people with sickle cell anemia are always in need of blood donations, we focus on awareness each February – “African American (Black) History Month” and September – “Sickle Cell Month”

dreamstime_13792412_smMost Blood Donor Centers are by appointment so, please contact them by phone and set up yours. Also, ask them if you can get names and phone numbers of people from your church, job, neighborhood, etc. on a commitment sign up sheet, can you fax the sign up sheet(s) directly to them and if they will call the donors and set up their appointments.

As African Americans, we need African American blood because it is the best match for these patients. If the blood is not a very close match, the patient may reject the transfusion and it could be fatal. Presently, only 5% of African Americans donate blood and it is just not enough. People with the sickle cell trait can not help a person with sickle cell disease, but we can help someone else!

Most children with sickle cell disease will need at least one blood transfusion before the age of 11. For most surgeries (major or minor), a transfusion is necessary and more often today children, teens and adults are receiving a blood transfusion every two to four weeks.

For more information or other ways you can assist, call:

Your Local:  Children’s Hospital Sickle Cell Clinic or Sickle Cell Foundation

web: http://www.givelife.org/

Re-post from Sickle Cell Information Center website – http://scinfo.org/patients-and-families-other-resources/donate-blood-for-sickle-cell-patients

Blood Donation Web Links

Sickle Cell Information – Why give Blood at Please Give Blood. org http://www.pleasegiveblood.org/sickle.htm

American National Red Cross headquarters in Washington, D.C.
www.redcross.org

http://www.givelife.org/

Giving Blood or Giving Bone Marrow

American Association of Blood Banks (AABB) at http://www.aabb.org/
National Marrow Donor Program (NMDP) at http://WWW.Marrow.org/

The International Red Cross Movement

International Committee of the Red Cross (ICRC) at http://www.icrc.org/
International Federation of Red Cross and Red Crescent Societies at http://www.ifrc.org/

Sickle Cell Information Center Web Links

  1. Bone Marrow and Stem Cell Transplant Resources
  2. Stroke Prevention and Trans Cranial Doppler -TCD Screening
  3. TCD Patient Information for handouts
  4. Chelation Therapy for Iron Overload
  5. Visit our Chelation Conference
  6. Chelation Education Coloring book pdf
  7. How to do Chelation Therapy pdf
  8. STARS Clinic for stroke prevention