Sickle cell disease is a genetic blood disorder in which round red blood cells take on a characteristic abnormal, curved “sickle” shape. African-Americans and others from tropical sub-Saharan Africa are most susceptible to this disorder, which can cause intense pain, high blood pressure, stroke, damage to vital organs, and the risk of serious infection. March of Dimes research involvement into the causes and prevention of sickle cell disease dates back to the polio era, when the chemist Linus Pauling discovered that the disease results from an abnormality in molecules of hemoglobin, which carries oxygen from the lungs to the rest of the body. Dr. Pauling’s finding that sickle hemoglobin differs in a measurable way from normal hemoglobin introduced the idea that heritable changes in the structure of a molecule could lead to improper function and result in disease. Dr. Pauling received one of the earliest basic research grants from the March of Dimes, and he was awarded the Nobel Prize in Chemistry in 1954. His work laid thegroundwork for techniques used in newborn screening and the diagnosis of sickle cell disease today.
After the March of Dimes changed its mission to birth defects prevention in 1958, sickle cell disease again came to the forefront of concern as a significant, but treatable, genetic disorder. The Foundation supported several lines of research: one was a medication that prevents red blood cells from “sickling;” another was giving daily antibiotics to affected infants and toddlers to prevent life-threatening bacterial infections; a third was bone marrow transplantation, used to cure other genetic blood disorders as well as severe sickle cell disease. The Foundation helped to establish one of the first pediatric clinics in the U.S. to care for infants and children with sickle cell disease at the Mt. Sinai Medical Center in New York City in the late 1970s. This center provided medical services, social and psychological support, genetic counseling and education needed by children with sickle cell disease as well as their families and communities. March of Dimes researchers investigated the effectiveness of innovative drug treatments and a multi-disciplinary team approach to caring for infants and children affected by the disease.
For over 50 years the March of Dimes has focused on treatment of sickle cell disease in its quest to prevent all birth defects. In 1982, March of Dimes grants led to the development of a safe and accurate prenatal test for the disease, and even today our grants support cutting-edge medical research. We hope to understand the molecular pathways of cellular development, to determine the risk factors inherent in the disease to prevent other infections, and to explore innovative gene therapies to eliminate the risks of leukemia in those affected by the disease. These are just a sampling of some of the ways we strive for “stronger, healthier babies” in our 75th anniversary year.
Did you know that millions of people carry genes for various blood disorders? Many of these people will live normal, healthy lives without serious complications. However, some may experience some complications under certain conditions. Many people are unaware of their carrier status or family health history. With all the misinformation out there about blood disorders, it’s easy to get confused.
Please join us for an online chat about blood disorders, the importance of carrier status, family health history, pregnancy, and newborn screening. Dr. Althea Grant will be answering your questions and debunking myths and misconceptions about carrier issues related to:
Bleeding and clotting disorders
• Hemophilia
• Blood clots
• Von Willebrand disease
Meet us on Twitter and join the conversation “Removing the Knowledge Barriers When it Comes to Information on Carriers” on Thursday, Oct 18th at 1 PM EDT. Be sure to use #pregnancychat to follow the chat and ask questions.
Dr. Althea Grant is the Acting Director of the Division of Blood Disorders, National Center for Birth Defects and Developmental Disabilities. Dr. Grant has been recognized for her contributions to developing public health programs and resources for sickle cell disease and sickle cell trait.
Newborn screening reaches every baby born in the U.S., over 4 million babies each year. But, do you know what newborn screening is and why it’s important? Do you know that not all states screen for the same things? Do you know how to find out what your state screens for?
Chat with us and our guest, Baby’s First Test, on Tuesday, March 20th at 1 PM, EDT. Join us online on Twitter and ask your questions, and be sure to use #pregnancychat to participate and see the full conversation.
Most rare diseases or disorders are serious, many are chronic or lifelong, and about 2/3 of the patients are infants or children. Although people with rare disorders face different medical obstacles, rare disease patients all over the world face the same type of medical, social and economic challenges related to their disorders.
Join us and our guests from NORD, the National Organization for Rare Disorders, for a live #pregnancychat about living with and finding help for rare diseases. We’ll be on Twitter this Thursday, Feb. 23rd at 1 PM EST.
While there are approximately 7,000 diseases considered rare in the U.S., only about 200 of these have FDA-approved treatments. Only a very few can be detected with newborn screening. Almost 30 million Americans have rare diseases. In addition, 30 million Europeans and millions more around the world struggle with them.
Join our chat to learn more and to find out how you can help focus attention on this public health concern on Rare Disease Day, February 29th. Together, in solidarity, the international rare disease community can build a better world for rare disease patients.
Ever wonder why there is a band-aid on your baby’s heel so soon after birth? It’s one of your baby’s first tests. Every state and U.S. territory routinely screens newborns for certain genetic, metabolic, hormonal and functional disorders. These disorders are rare but serious and if caught early, can be treated. Your baby’s first blood test is part of newborn screening which also includes a hearing test. The latest recommendation is for pulse oximetry testing for critical congenital heart disease, CCHD.
Babysfirsttest.org is a new website for new moms and moms-to-be to learn about newborn screening. At http://www.babysfirsttest.org/ you will find trusted information, including videos, such as this newest one produced by the March of Dimes, ‘Learning about newborn screening.’
The March of Dimes has been working with Genetic Alliance this past year to develop this one stop shop for information and resources about newborn screening. Be sure to check out babysfirsttest.org.
Dr. Jennifer L. Howse, president of the March of Dimes, today issued the following statement on adding a new screening test for newborns to the Secretary of Health and Human Services’ Recommended Uniform Screening Panel:
“Today, based on the recommendation of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, and the approval of Secretary Kathleen Sebelius, the March of Dimes will add critical congenital heart disease (CCHD) to the list of newborn screening tests we recommend, for a total of 31 conditions.
“The Secretary’s acceptance of the CCHD test is good news for babies and families. The March of Dimes is the only consumer group in the country with a recommended list of newborn screening tests. We will work with every state and the District of Columbia to ensure this test is given to every child at birth.
“Heart defects are the most common birth defects in the United States, and about 4,800 (or 11.6 per 10,000) babies born every year have the life-threatening heart conditions known collectively as CCHD. Routine pulse oximetry to measure oxygen levels can successfully identify newborns with CCHD before the babies die suddenly or even begin to show symptoms. Early detection will give doctors the chance to intervene and save babies’ lives. We urge every state to educate parents prospectively about the benefits and availability of newborn screening.
“The March of Dimes is the leader in advocacy for comprehensive newborn screening for all babies in the United States, regardless of where they are born. Our policy is to support screening for specific conditions when there is a documented medical benefit to the affected infant from early detection and treatment; there is a reliable screening test for the disorder; and early detection can be made from newborn blood spots or other specific means.
“Newborn screening is a rapidly changing field. We know that expert opinion on newborn screening will continue to evolve as medical evidence mounts, and we continue to stand ready to update our recommendations as needed to the states and to the public.”
Before your baby leaves the hospital, she gets her first checkup to make sure she is healthy. Here are some of the tests and treatments she receives.
• Apgar score - At 1 minute and 5 minutes after birth, a doctor or nurse checks you baby for five things: Heart rate; Breathing; Muscle tone; Reflexes; and Skin Color. Each gets a score of 0 to 2. The total score is called an Apgar score. If your baby has a score of 7 or more, she is in good shape! If she has a score less than 7, she probably is fine but she made need some special care.
• Vitamin K shot. Vitamin K can help your baby’s blood clot and protect her from bleeding problems. She gets this shot right after birth.
• Eye drops or ointment to help protect the eyes from infection.
• Complete physical. A health care provider checks your baby out from head to toe. He listens to her heart and lungs, feels her tummy, checks her eyes, nose, mouth, head, arms and legs. He gives her a hepatitis B shot. This is a vaccine to protect your baby from hepatitis B, a virus that can cause problems in your baby’s liver.
• Blood test – Every state and U.S. territory routinely screens newborns for certain genetic, metabolic, hormonal and functional disorders.
• Hearing test – A small microphone is put in your baby’s ear and plays soft sounds. Early identification of hearing loss in the newborn allows the baby to be fitted with hearing aids before 6 months of age, helping prevent serious speech and language problems in the future.
During her first year, your baby will see her health care provider regularly for well baby visits. This is the medical care you get for her when she’s not sick. Her checkups let the health care provider make sure she is growing and developing correctly. In the first year, your baby should get a checkup at 2 weeks, months 1, 2, 4, 6 and 9, and at 1 year.
Take your baby for these checkups even if she’s doing great and isn’t sick.
A new study has found that a simple saliva test can identify babies born with cytomegalovirus, CMV. Babies born with this common virus are at increased risk for hearing loss, vision loss or learning disabilities.
CMV is the most common congenital (present at birth) infection in the United States. Each year, about 40,000 babies are born with CMV infection. Most babies are not harmed by the virus, but some are. About 90% of babies who are infected with CMV have no symptoms at birth, and most parents aren’t aware that their children have it. However, about 10% to 15% of infected babies develop one or more lasting disabilities during the first few years of life. For this reason, all babies born with congenital CMV infection should have regular hearing and vision tests. An accurate newborn screening test would quickly identify those babies at risk.
According to Suresh Boppana, professor of pediatrics at the University of Alabama at Birmingham and lead author on the new study, somewhere between 20-40% of early childhood hearing loss probably is caused by CMV. The saliva test utilized in the new study, published Wednesday in the New England Journal of Medicine, was easy to perform and highly accurate. The researchers tested about 35,000 babies and the test was 97 percent accurate in identifying babies infected with the virus.
Newborns are screened for dozens of diseases and genetic disorders while still in the hospital. Dr. Boppana recognizes that adding another test to the current roster of newborn screening tests, which are determined by each state, will be no easy matter, but is optimistic.
Want to learn more about CMV? Please join us on Twitter for a live #pregnancychat on CMV on June 22nd at 12 noon, EST. We will be joined by Janelle Greenlee, President and Founder of Stop CMV - The CMV Action Network. StopCMV.org
I’m not a huge football fan, but I do enjoy watching the Super Bowl (probably because it’s an excuse to eat nachos and chicken wings). A colleague just forwarded me a link to an article in the NY Times that focuses on children and their risk of hearing loss. The article features Saints quarterback, Drew Brees’s one-year old son at the game wearing earmuffs. Besides making him look absolutely adorable, this basic protective gear served a very important purpose — to protect his tiny ears from the thunderous noise generated at stadium. We might not think of noise as dangerous, but according to audiologists the ear canal of a child is very small. Therefore the sound pressure entering the ear is greater. This can make young children more susceptible to irreversible hearing loss and parents need to be more aware.
The Centers for Disease Control and Prevention (CDC) recommends that all babies be screened for hearing impairment before 1 month of age, preferably before they leave the hospital. This is because language and communication develop rapidly during the first two to three years of life, and undetected hearing impairment can lead to delays in developing these skills. Without newborn screening, children with hearing impairment usually are not diagnosed until 2 to 3 years of age.
The goal of early screening, diagnosis and treatment is to help children with hearing impairment develop language and academic skills equal to those of their peers. Most states have an Early Hearing Detection and Intervention Program to help ensure that all babies are screened, and that infants who do not pass the screening receive the follow-up care they need. The March of Dimes, the American Academy of Pediatrics, the Maternal and Child Health Bureau, the CDC and others strongly support these programs.
Anyone who has unanswered questions about diseases or traits that run in the family should consider genetic counseling. People who may find it valuable include:
• Those who have, or are concerned that they might have, an inherited disorder or birth defect.
• Couples who already have a child with mental retardation, an inherited disorder or a birth defect.
• Couples whose infant has a genetic disease diagnosed by routine newborn screening.
• Women who have had babies who died in infancy or three or more miscarriages.
• People concerned that their jobs, lifestyles or medical history may pose a risk to outcome of pregnancy. Common causes of concern include exposure to radiation, medications, illegal drugs, chemicals or infections.
• Couples who would like testing or more information about genetic conditions that occur frequently in their ethnic group.
• Pregnant women whose ultrasound examinations or blood testing indicate that their pregnancy may be at increased risk for certain complications or birth defects.
If you think you could benefit from genetic counseling, call your local chapter of the March of Dimes, or send an email to Askus@marchofdimes.com, for information on services in your area.
Sickle cell disease is a genetic blood disorder in which round red blood cells take on a characteristic abnormal, curved “sickle” shape. African-Americans and others from tropical sub-Saharan Africa are most susceptible to this disorder, which can cause intense pain, high blood pressure, stroke, damage to vital organs, and the risk of serious infection. March of Dimes research involvement into the causes and prevention of sickle cell disease dates back to the polio era, when the chemist Linus Pauling discovered that the disease results from an abnormality in molecules of hemoglobin, which carries oxygen from the lungs to the rest of the body. Dr. Pauling’s finding that sickle hemoglobin differs in a measurable way from normal hemoglobin introduced the idea that heritable changes in the structure of a molecule could lead to improper function and result in disease. Dr. Pauling received one of the earliest basic research grants from the March of Dimes, and he was awarded the Nobel Prize in Chemistry in 1954. His work laid thegroundwork for techniques used in newborn screening and the diagnosis of sickle cell disease today.
Did you know that millions of people carry genes for various blood disorders? Many of these people will live normal, healthy lives without serious complications. However, some may experience some complications under certain conditions. Many people are unaware of their carrier status or family health history. With all the misinformation out there about blood disorders, it’s easy to get confused.
Newborn screening reaches every baby born in the U.S., over 4 million babies each year. But, do you know what newborn screening is and why it’s important? Do you know that not all states screen for the same things? Do you know how to find out what your state screens for?
Most rare diseases or disorders are serious, many are chronic or lifelong, and about 2/3 of the patients are infants or children. Although people with rare disorders face different medical obstacles, rare disease patients all over the world face the same type of medical, social and economic challenges related to their disorders. 
Before your baby leaves the hospital, she gets her first checkup to make sure she is healthy. Here are some of the tests and treatments she receives.
I’m not a huge football fan, but I do enjoy watching the Super Bowl (probably because it’s an excuse to eat nachos and chicken wings). A colleague just forwarded me a 
Anyone who has unanswered questions about diseases or traits that run in the family should consider genetic counseling. People who may find it valuable include:
