Researchers identify a new form of muscular dystrophy

06
Mar
Posted by Sara

MOD scienceResearchers, funded in part by the March of Dimes, have identified a genetic mutation which causes a new form of muscular dystrophy (MD).

This particular form of MD has many features, such as short height, cataracts (eye problems causing it hard to see), and intellectual disability, that are similar to other disorders. The overlap has caused confusion for physicians and researchers, until now. An international group of researchers were able to show that mutations (changes) in the INPP5K gene are responsible for a unique form of MD.

“Families and physicians have been searching for the origins of this rare disorder for years,” says Dr. Chiara Manzini, one of the researchers. “Children with a similar combination of symptoms had been described in the medical literature before, but it was unclear whether or not it was a new disease. Now we know it’s a variant of MD that affects other organs.”

Muscular dystrophy is a group of disorders that causes muscle weakness and muscle loss over time. Most people with MD are eventually unable to walk. More than 250,000 Americans are affected by the approximately 30 forms of MD and other related neuromuscular disorders. MD is inherited, meaning it is passed down from parents to their children.

How does this research help families?

Identifying a target gene, such as the INPP5K gene, reduces uncertainty for families. It allows parents to receive a precise diagnosis instead of not knowing what condition their child may have. In addition, knowing their child’s exact disorder can help families understand which medical specialists should be consulted and it can aid in overall clinical management.It gives hope to families that new, targeted treatments may become available in the future. Finally, a specific diagnosis will help health care providers better understand the disease and how it affects a child throughout his life.

“This is a great example of collaborative, innovative genetic research that has an immediate benefit to babies and their families,” says Joe Leigh Simpson, MD, senior vice president for Research and Global Programs at the March of Dimes. “Studying rare disorders can also teach us more about common conditions that affect millions of people in the United States and around the world.

Have questions? Text or email us at AskUs@marchofdimes.org.

 

Is the Zika virus affecting babies in the U.S.?

03
Mar
Posted by Barbara

microcephalyShort answer…Yes.

The CDC just released a report that measured the number of brain related birth defects in the U.S. before and after the arrival of Zika. The study focused on data from three areas of the U.S. that track brain related birth defects – Massachusetts, North Carolina, and Atlanta, Georgia – in the year 2013-2014, before Zika arrived in the U.S.

It found that during that time, brain related birth defects occurred in 3 out of 1,000 births (.3%).

A study done looking at 2016 data shows that among women in the US with possible Zika virus infection, similar brain related birth defects were 20 times more common, affecting 60 of 1,000 pregnancies (6%).

This is a huge increase.

Here’s what we know

If a pregnant woman is infected with Zika, the virus can pass to her baby. Zika has been shown to cause a range of birth defects including brain problems, microcephaly, neural tube defects, eye defects and central nervous system problems. Although none of these birth defects are new to the medical field and they can occur for other reasons, it has been clearly established that the Zika virus can cause these serious problems, too.

Babies will require coordinated, long-term care

Babies born with Zika related birth defects will require access to coordinated medical care among a team of specialists. Such care may seem daunting to the parents and even to the medical community as they gather new information about the effects of the virus on a daily basis.

Enter the Zika Care Connect Network (ZCC)

This new website will launch in April 2017 to help parents and providers coordinate care for babies with complex medical needs due to Zika infection. The ZCC aims to improve access to medical care, which will jump-start early identification and intervention. The goal is to reduce the long-term effects of Zika on children and families by making it easier to locate a network of specialists knowledgeable about services for patients with Zika. The searchable database will feature a Provider Referral Network, patient resource tools, and a HelpLine.

Bottom line

Zika is still here, and it is seriously affecting babies and families. The best line of defense is to protect yourself from infection. Our website has detailed information on how to stay safe.

If you have questions, text or email AskUs@marchofdimes.org.

Why do we have World Birth Defects Day?

01
Mar
Posted by Barbara

wbddlogoIn a day and age when many cures exist for diseases and conditions, it may seem hard to believe that birth defects still occur. Yet, unfortunately they do.

Every year, millions of babies around the world are born with a serious birth defect. In many countries, birth defects are one of the leading causes of death in babies and young children. Babies who survive and live with these conditions are at an increased risk for long-term disabilities and other health problems.

What are birth defects?

Birth defects are health conditions that are present at birth. They may change the shape or function of one or more parts of the body. Birth defects can cause problems in overall health, how the body develops, or how the body works.

There are thousands of different birth defects. The most common are heart defects, cleft lip and palate, Down syndrome and spina bifida. Our website has a list of common birth defects as well as examples of rare birth defects.

We don’t know all the reasons why birth defects occur. Some may be caused by the genes you inherit from your parents. Others may be caused by environmental factors, such as exposure to harmful chemicals. Some may be due to a combination of genes and environment. In most cases, the causes are unknown.

Why #WorldBDDay?

The goal of World Birth Defects Day is to expand birth defects surveillance, prevention, care, and research worldwide. Naturally, the goal is to raise awareness, too.

You can help.

  • Lend your voice! Register with your social media account and Thunderclap will post a one-time message on March 3rd. The message will say “Birth defects affect 3-6% of infants worldwide. It’s a major cause of death/disability. Lend your voice!”
  • Join the Buzzday on Twitter, March 3, 2017 by using the hashtag #WorldBDDay.

With your help, we’ll raise awareness, which is the first step in improving the health of all babies.

What we’re doing

The mission of the March of Dimes is to improve the health of babies by preventing birth defects, premature birth and infant mortality. Our research grantees have discovered genes that cause or contribute to a number of common birth defects, including fragile X syndrome, cleft lip and palate, and heart defects. These discoveries may one day lead to interventions so that some birth defects can be prevented.

The March of Dimes offers information about how to have a healthy pregnancy on our website and this blog.

We answer health questions from the public through AskUs@marchofdimes.org, and promote messaging on our Twitter handles, @modhealthtalk, @nacersano (in Spanish) and @marchofdimes.

We welcome your comments and questions.

Rare Disease Day is February 28th. What makes a disorder rare?

27
Feb
Posted by Lauren

rare-disease-dayAny disease, disorder, illness or condition affecting fewer than 200,000 people in the U.S. is considered rare. The National Organization for Rare Disorders (NORD) says there are about 7,000 rare diseases and disorders which affect roughly 30 million Americans. That’s 1 in 10 people, and more than half of them are children.

Why is rare disease awareness so important?

It is often very hard to diagnose a rare disease and it can take a long time for a correct diagnosis to be made.

Then, even if someone receives a diagnosis, 95% of the conditions have no treatment or cure (which means that only 5% of affected people have a treatment option). As a result, many infants or children die from rare disorders.

Individuals living with a rare disease move through life without getting answers to their most basic questions.

Here are a few examples of rare diseases:

Agenesis of Corpus Callosum (ACC)

This rare disorder is present at birth. The corpus callosum, which connects the left and right sides of the brain, is partially or completely absent. The cause of this condition is usually not known but it can be inherited. Symptoms include delays in reaching developmental milestones, seizures, feeding problems and impairment of mental and social development. Treatment is based on supporting an individual’s symptoms, such as therapies that focus on left/right coordination. Early diagnosis and interventions offer the best chances of improvement.

Klippel-Feil syndrome (KFS)

KFS is a skeletal disorder with an abnormal union of two or more bones in the spinal column within the neck. This can cause some affected individuals to have an abnormally short neck with restricted movement. KFS seems to occur randomly for unknown reasons, although in some cases it may be inherited. Treatment is based on an individual’s specific symptoms, and may include surgery and physical therapy.

Progeria, or Hutchinson-Gilford progeria syndrome (HGPS)

According to NORD, progeria is a fatal, genetic condition of childhood that resembles premature aging. In most cases, it is not passed down in families. The gene change that causes the condition is almost always a chance occurrence that is extremely rare. “In 2012, the results of the first-ever clinical drug trial for children with progeria revealed that Lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer, was shown to be effective for progeria. Other than Lonafarnib, which is not FDA-approved and thus only available through clinical drug trials, the treatment of HGPS is directed toward the specific symptoms that are apparent in each individual.”

Tay-Sachs

This condition is an inherited disease that affects a baby’s central nervous system (the brain and spinal cord). The central nervous system controls how the body works. There is no cure for Tay-Sachs, and a baby with Tay-Sachs usually dies by the time he is 4 years old. We have information about this disease on our website.

NORD provides information on many rare diseases.

#RareDiseaseDay

Rare Disease Day is always on the last day of February each year. This year it’s on February 28th and the focus is on research. The slogan is “With research, possibilities are limitless.” And it’s true, research can help discover treatments and in some cases cures. Research can give hope to people living their day-to-day lives in search of answers.

See rarediseaseday.us or NORD for more info.

It’s not too late to get a flu shot

23
Feb
Posted by Sara

flu shot pregnant womenYou may think that flu season is almost over, but that is not the case. Flu activity is still increasing across the country and it is expected to continue for several weeks.

According to the CDC, the timing of the annual flu season is very unpredictable. Flu viruses can be detected year-round, however, seasonal flu activity can begin as early as October and continue to occur as late as May. In the United States, flu activity most commonly peaks between December and March. You can check out the flu activity in your state on this interactive map from the CDC.

It is not too late to get a flu shot, if you haven’t gotten one already. The CDC recommends an annual flu vaccine for everyone 6 months and older. The flu shot is safe for pregnant women and most children but if you or your baby has had a reaction in the past, or is allergic to eggs, make sure you talk to your provider. And if you are pregnant, you can get the flu shot at any time during pregnancy. A flu shot during pregnancy can help protect your baby for several months after birth as well.

A flu shot remains the most effective way to prevent the flu. And this season’s flu vaccines are reducing the risk of illness by almost half. Anyone who has not yet gotten a flu shot this year should get one as soon as possible.

If you do get the flu, the CDC also recommends quick treatment with antiviral medications, especially for people who are very sick or people who are at high risk of flu complications, including pregnant women. For flu, antivirals work best if you take them within 2 days of getting sick. Quick treatment with antiviral medicine can help prevent serious flu complications. You will need a prescription for an antiviral medication so call or visit your health care provider right away if you think you may have the flu.

Flu season is not over, so make sure you are taking the appropriate precautions to help you and your family avoid the flu this year.

Have questions? Text or email us at AskUs@marchofdimes.org.

New research links premature birth to mom’s risk of heart disease later in life

21
Feb
Posted by Lauren

preemie and momThis headline has raised concerns among women who have had a premature baby (birth before 37 weeks) – and for good reason.

In a published study, researchers analyzed data from more than 70,000 women to look at the association between premature delivery and future cardiovascular disease (CVD). They found that women who delivered a baby before 37 weeks gestation in their first pregnancy had a 40 percent greater risk of heart disease later in life, compared to women with term deliveries. This finding occurred even after accounting for pre-pregnancy sociodemographic, lifestyle, and CVD risk factors.

And there’s more.

Women who delivered before 32 weeks gestation had double the risk of CVD later in life compared to women with term deliveries.

So what does this mean for moms who gave birth early?

The results from the study are concerning, but researchers have stated that premature delivery may be an early warning sign of future heart problems, but not the cause of them. Factors such as pre-eclampsia and gestational diabetes, both of which can cause preterm labor, are already considered risk factors for future CVD. More research is needed to determine exactly how premature delivery and CVD are linked.

The March of Dimes funds research to help discover the causes of preterm labor and premature birth. In about half of cases, the cause is unknown. We hope that with our groundbreaking research, we will be able to help prevent premature birth and improve the health of mothers and babies throughout their lifetimes.

If you have questions or concerns about your future risk of CVD, speak with your health care provider.

Why reading aloud to your baby is so important

16
Feb
Posted by Barbara

AA baby mom dad brother in NICU.jpg.resizedDid you know that reading to your baby helps promote language skills? Science has shown that reading to your baby helps build vocabulary, speech, and later reading comprehension, literacy and overall intelligence. Yet, less than half of children under the age of 5 are read to every day.

Reading aloud to your child is such an important aspect of language development that the American Academy of Pediatrics (AAP) offers guidance on how to read to your child, including book suggestions for every age.

But what if your baby is in the NICU?

Even if your baby is in the Newborn Intensive Care Unit (NICU), it is still incredibly valuable to read to him. The March of Dimes is partnering with Jack and Jill of America, Inc. to provide books to families who have a baby in a NICU. Parents are encouraged to choose books and read to their babies as often as they can.

In this resource, the AAP explains “Why it is never too early to read with your baby.” They say: “When parents talk, read, and sing with their babies and toddlers, connections are formed in their young brains. These connections build language, literacy, and social–emotional skills at an important time in a young child’s development. These activities strengthen the bond between parent and child.”

Why start reading today?

Today is World Read Aloud Day, a perfect time to start a new routine of reading to your child.

If you’re not sure what to read, you can ask your local librarian in the children’s room. You can also acquire books for a home library at second hand stores or even recycling stations. The “dump” in the town where I raised my kids has a book shed where you can drop off or pick up used books for free. And don’t forget, garage or yard sales are great places to get books for nickels. Having a mini-library at home has been shown to help children get off on the right academic foot.

But perhaps the best reason to read to your child is because it brings you together. The snuggles and cuddles, laughter and silliness that may result from reading a wonderful book, brings happiness to both parent and child.

Whether it is in the NICU or at home, reading aloud to your child is one of the most powerful things you will ever do. So grab a book, snuggle up, and enjoy!

 

Fish safety during pregnancy: what to eat or avoid

13
Feb
Posted by Sara

Mercury is a metal that can harm your baby. Fish get mercury from the water they swim in and from eating other fish that have mercury in them. By eating fish that contain mercury, the metal can pass to your baby during pregnancy. This can cause brain damage and affect your baby’s hearing and vision. However, it can be difficult to know which fish is safe to eat and which should be limited or avoided. Fortunately, the FDA (US Food and Drug Administration) and EPA (Environmental Protection Agency) have created a chart that classifies fish into three categories:

  • Best choices: eat 2-3 servings a week
  • Good choices: eat 1 serving a week
  • Choices to avoid: high mercury levels, best to avoid completely

Nearly 90 percent of fish eaten in the United States fall into the best choices category, according to the FDA and EPA. So make sure you get the recommended 2-3 servings of fish per week from the “Best choices” category, or 8 to 12 ounces total (12 ounces maximum).

 

FDA

 

Snowy days and pregnancy – what you need to know

08
Feb
Posted by Barbara

shovel in snow If you’re pregnant, you need to be extra careful about walking on the snow and ice. Here’s why:

During pregnancy, your ligaments become looser to allow your body to accommodate your growing baby. The hormone relaxin helps to prepare your body for labor and delivery, but it can also affect your joints making you feel unsteady. This change can put you at risk for injury, especially on slippery pavements.

If you are in your third trimester of pregnancy, your center of gravity may be off balance, which could make you prone to slips and falls. Your center of gravity refers to the place in your body that helps anchor you to the earth, so that you don’t tip over. A natural point of balance is below the navel and halfway between the abdomen and lower back. Having a strong center of gravity helps you have good balance.

During pregnancy, as your baby grows, your center of gravity moves forward and upward. Therefore, feeling off-balance is likely to worsen later on in your pregnancy, especially in the third trimester. Slipping and falling is much easier when your center of gravity has shifted.

Be prepared

Try to get help from family or friends with shoveling snow. Keep a bag of calcium chloride handy and sprinkle it on slippery walks to melt the snow and ice.

With a little thought and planning, you can remain safe during the cold, winter months. Then, when your baby is born, your center of gravity and ligaments will slowly return to normal again, and you can resume your usual activities.

Have questions? Text or email AskUs@marchofdimes.org.

 

The life cycle of heart defects

06
Feb
Posted by Lauren

Couple with nurseCongenital heart defects (CHDs) are heart conditions that are present when a baby is born. CHDs affect nearly 1 in 100 births every year in the United States and are the most common type of birth defect. In fact, today, it is estimated that more than 2 million children and adults are living with a CHD in the U.S.

How do these defects happen?

Heart defects develop in the early weeks of pregnancy when the heart is forming, often before you know you’re pregnant. Some defects are diagnosed prenatally using ultrasound and some are identified after birth. We’re not sure what causes most congenital heart defects, but certain things like diabetes, lupus, rubella, obesity and phenylketonuria may play a role. Some women have heart defects because of changes in their chromosomes or genes. If you already have a child with a CHD, you may be more likely to have another child with a CHD.

Becoming pregnant with a CHD

When a woman with a CHD becomes an adult and decides to start a family, there may be concerns about how her heart defect may impact her pregnancy. Most women who have congenital heart disease do well and have healthy pregnancies.  However, because your heart has much more work to do during pregnancy, the extra stress on your heart may be a concern. Women with a CHD have a higher risk of certain pregnancy complications such premature birth.

Preconception counseling can help. Be sure to talk to your medical team, including your cardiologist before trying to conceive, about potential complications that may arise.

Learn what you need to know before and during pregnancy, and for labor and delivery.

Do you have a CHD? Did it impact your pregnancy? Tell us your story.

Have questions? Text or email us at AskUs@marchofdimes.org