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

This rare disorder is present at birth and is characterized by a partial or complete absence of an area of the brain. The cause of this condition is usually not known but it can be inherited. Symptoms include seizures, feeding problems and impairment of mental and physical development. Treatment is based on supporting an individual’s symptoms.

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 directed toward an individual’s specific symptoms.

Progeria, or Hutchinson-Gilford progeria syndrome (HGPS)

Progeria is a rare, fatal, genetic condition of childhood that resembles premature aging. Progeria is not usually 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 progeria is directed toward the individual symptoms.

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.

NORD provides information on many rare diseases.

#RareDiseaseDay

Rare Disease Day is always on the last day of February each year. This year it is on February 28th  and the focus is on research. This year’s 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

Is breastfeeding a preemie different than a full term baby?

03
Feb
Posted by Lauren

preemieThe answer is yes.

You’ve probably spent the last few months anxiously getting ready for your baby’s arrival. You’ve probably also thought about and decided how you are going to feed your baby after birth. Unfortunately, your breastfeeding plans may need to change in order to accommodate your baby, if you gave birth prematurely (before 37 weeks of pregnancy).

Breastfeeding in the NICU

If your baby is in the NICU, you may need to start pumping to establish your milk supply. Although you won’t have your warm baby at your breast, give your baby any expressed colostrum or milk you produce. Breast milk provides many health benefits for all newborns, but especially for premature or sick babies in the NICU.

Read our tips and tricks to breastfeeding your baby in the NICU.

Late preterm babies

If your baby was born late preterm, between 34 weeks and 0 days and 36 weeks and 6 days of pregnancy,  the good news is that she may not need to spend any time in the NICU. The bad news is that breastfeeding a near-term baby can be very difficult. Late preemies are often very sleepy and lack the energy they need to latch, suck and swallow. Also, late preterm babies are vulnerable to hypothermia (low body temperature), hypoglycemia (low blood sugar), weight loss, slow weight gain and jaundice among other conditions, which may interrupt your breastfeeding progress.

Full term babies

Breastfeeding a full term baby has its challenges, too. But, compared to a preterm or late preterm baby, there are more opportunities to be successful with breastfeeding from the start, due to fewer health obstacles.

Stay positive

If your baby is spending time in the NICU or having trouble breastfeeding, the breast milk you provide your baby through expression or pumping is very beneficial to his growth and protection from illness and infection. Seek help when you need it through a Lactation Consultant, a nurse or your health care provider. If you are in the hospital, ask your nurse if they have a support group where you can connect and share with other moms going through the same situation.

Learn more in Breastfeeding 101.

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

 

New study offers clues as to why some women give birth prematurely

01
Feb
Posted by Sara

research_birthdefectsresearch_rdax_50Why do some women give birth early and others don’t? March of Dimes researchers are trying to find the answer to this question. A new study has revealed important clues.

The type of bacteria found in a woman’s cervix and vagina during pregnancy may either increase the risk of premature birth or protect against it.

Researchers from the Perelman School of Medicine at the University of Pennsylvania and the University of Maryland collected cervicovaginal (CV) bacteria from 2,000 women at three different times during their pregnancies. They then analyzed the bacteria. They found that some of the bacteria actually lowered the risk of spontaneous preterm birth. But other types of bacteria increased the chance of preterm birth significantly. The bacteria associated with spontaneous preterm birth, either providing a protective effect or increasing risk, were different between African-American and non-African-American women.

If the study is confirmed, it could mean that targeting CV bacteria may be a new therapy to prevent premature birth. Edward R.B. McCabe, MD, PhD, senior vice president and chief medical officer of the March of Dimes, stated, “From these data, we may learn how to prevent preterm birth either by eliminating the CV bacteria that are associated with an increased risk and/or by enhancing the presence of protective bacteria. This is a promising new area that should become a research priority.”

Learn more about how March of Dimes researchers are working to better understand the causes of premature birth on our website.

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

Key messages from Birth Defects Prevention Month

30
Jan
Posted by Barbara

MOD dad and babyWe’ve had a busy month spreading the word about birth defects and what you can do to have a healthy pregnancy. If you’ve missed some posts, here’s a one page cheat sheet of key messages.

Birth defects are more common than you’d think.

  • Did you know that every 4.5 minutes, a baby is born with a birth defect in the U.S.? That’s 1 in 33 babies or more than 120,000 babies each year.
  • Birth defects are health conditions that are present at birth. They may affect how the body looks, works, or both.
  • Common birth defects include heart defects, cleft lip and cleft palate, Down syndrome and spina bifida. Some birth defects are on the rise for unknown reasons – like gastroschisis.
  • Birth defects are the leading cause of infant deaths in the first year of life in the U.S.
  • Birth defects are the leading cause of death and disability in children across the world.

There are thousands of different birth defects, and about 70 % of the causes are unknown.

  • Birth defects are thought to be caused by a complex mix of factors including our genes, behaviors and environment.
  • Many birth defects are discovered after the baby leaves the hospital or within the first year of life.
  • Babies who survive and live with birth defects are at an increased risk for long-term disabilities and lifelong challenges.

Not all birth defects can be prevented, but SOME CAN. Here’s how:multivitamin

Share and connect

Birth defects can happen to any family. Share and connect with others on our online community Share Your Story.

Have questions? Email our health education specialists at AskUs@marchofdimes.org.