Angelman syndrome

 

 

Overview

Angelman syndrome is a genetic disorder. It causes delayed development, problems with speech and balance, intellectual disability, and sometimes seizures.

 

People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities.

 

Developmental delays, which begin between about 6 and 12 months of age, are usually the first signs of Angelman syndrome. Seizures may begin between the ages of 2 and 3 years old.

 

People with Angelman syndrome tend to live close to a normal life span, but the disorder can't be cured. Treatment focuses on managing medical, sleep and developmental issues

Symptoms

Angelman syndrome signs and symptoms include:

 

Developmental delays, including no crawling or babbling at 6 to 12 months

Intellectual disability

No speech or minimal speech

Difficulty walking, moving or balancing well

Frequent smiling and laughter

Happy, excitable personality

Trouble going to sleep and staying asleep

People who have Angelman syndrome may also show the following features:

 

Seizures, usually beginning between 2 and 3 years of age

Stiff or jerky movements

Small head size, with flatness in the back of the head

Tongue thrusting

Hair, skin and eyes that are light in color

Unusual behaviors, such as hand flapping and arms uplifted while walking

 

When to see a doctor

Most babies with Angelman syndrome don't show signs or symptoms at birth. The first signs of Angelman syndrome are usually developmental delays, such as lack of crawling or babbling, between 6 and 12 months.

 

If your child seems to have developmental delays or if your child has other signs or symptoms of Angelman syndrome, make an appointment with your child's doctor.

 

 

Causes

Angelman syndrome is a genetic disorder. It's usually caused by problems with a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene.

 

To provide background on this topic, you receive your pairs of genes from your parents — one copy from your mother (maternal copy) and the other from your father (paternal copy).

 

Your cells typically use information from both copies, but in a small number of genes, only one copy is active.

 

Normally, only the maternal copy of the UBE3A gene is active in the brain. Most cases of Angelman syndrome occur when part of the maternal copy is missing or damaged.

 

In a few cases, Angelman syndrome is caused when two paternal copies of the gene are inherited, instead of one from each parent.

 

Risk factors

Angelman syndrome is rare. Researchers usually don't know what causes the genetic changes that result in Angelman syndrome. Most people with Angelman syndrome don't have a family history of the disease.

 

Occasionally, Angelman syndrome may be inherited from a parent. A family history of the disease may increase a baby's risk of developing Angelman syndrome.

 

Complications

Complications associated with Angelman syndrome include:

 

Feeding difficulties. Difficulty coordinating sucking and swallowing may cause feeding problems in infants. Your pediatrician may recommend a high-calorie formula to help your baby gain weight.

Hyperactivity. Children with Angelman syndrome often move quickly from one activity to another, have a short attention span, and keep their hands or a toy in their mouths. Hyperactivity often decreases with age, and medication usually isn't necessary.

Sleep disorders. People with Angelman syndrome often have abnormal sleep-wake patterns and may require less sleep than most people. Sleep difficulties may improve with age. Medication and behavior therapy may help control sleep disorders.

Curvature of the spine (scoliosis). Some people with Angelman syndrome develop an abnormal side-to-side spinal curvature over time.

Obesity. Older children with Angelman syndrome tend to have large appetites, which may lead to obesity.

Prevention

In rare cases, Angelman syndrome may be passed from an affected parent to a child through defective genes. If you're concerned about a family history of Angelman syndrome or if you already have a child with the disorder, consider talking to your doctor or a genetic counselor for help planning future pregnancies.

 

Jan Ricks Jennings, MHA, LFACHE

Senior Consultant

Senior Management Resources, LLC

Jan.Jennings@EagleTalons.net

JanJenningsBlog.Blogspot.com

412.913.0636 Cell

724.733.0509 Office

                                                                                   

Osteomyelitis

My Story

 

Overview

Osteomyelitis is an infection in a bone. Infections can reach a bone by traveling through the bloodstream or spreading from nearby tissue. Infections can also begin in the bone itself if an injury exposes the bone to germs.

 

Smokers and people with chronic health conditions, such as diabetes or kidney failure, are more at risk of developing osteomyelitis. People who have diabetes may develop osteomyelitis in their feet if they have foot ulcers.

 

Although once considered incurable, osteomyelitis can now be successfully treated. Most people need surgery to remove areas of the bone that have died. After surgery, strong intravenous antibiotics are typically needed.

 

Symptoms

Signs and symptoms of osteomyelitis include:

 

Fever

Swelling, warmth and redness over the area of the infection

Pain in the infection

Fatigue

Sometimes osteomyelitis causes no signs or symptoms, or the signs and symptoms are hard to distinguish from other problems. This may be especially true for infants, older adults, and people whose immune systems are compromised.

 

When to see a doctor

See your doctor if you experience worsening bone pain along with fever. If you are at risk of infection because of a medical condition or recent surgery or injury, see your doctor right away if you notice signs and symptoms of an infection.

 

Causes

Most cases of osteomyelitis are caused by staphylococcus bacteria, types of germs commonly found on the skin or in the nose of even healthy individuals.

 

Germs can enter a bone in a variety of ways, including:

 

The bloodstream. Germs in other parts of your body — for example, in the lungs from pneumonia or in the bladder from a urinary tract infection — can travel through your bloodstream to a weakened spot in a bone.

Injuries. Severe puncture wounds can carry germs deep inside your body. If such an injury becomes infected, the germs can spread into a nearby bone. Germs can also enter the body if you have broken a bone so severely that part of it is sticking out through your skin.

Surgery. Direct contamination with germs can occur during surgeries to replace joints or repair fractures.

Risk factors

Your bones are normally resistant to infection, but this protection lessens as you get older. Other factors that can make your bones more vulnerable to osteomyelitis may include:

 

Recent injury or orthopedic surgery

A severe bone fracture or a deep puncture wound gives bacteria a route to enter your bone or nearby tissue. A deep puncture wound, such as an animal bite or a nail piercing through a shoe, can also provide a pathway for infection.

 

Surgery to repair broken bones or replace worn joints also can accidentally open a path for germs to enter a bone. Implanted orthopedic hardware is a risk factor for infection.

 

Circulation disorders

When blood vessels are damaged or blocked, your body has trouble distributing the infection-fighting cells needed to keep a small infection from growing larger. What begins as a small cut can progress to a deep ulcer that may expose deep tissue and bone to infection.

 

Diseases that impair blood circulation include:

 

Poorly controlled diabetes

Peripheral artery disease, often related to smoking

Sickle cell disease

Problems requiring intravenous lines or catheters

There are a number of conditions that require the use of medical tubing to connect the outside world with your internal organs. However, this tubing can also serve as a way for germs to get into your body, increasing your risk of an infection in general, which can lead to osteomyelitis.

 

Examples of when this type of tubing might be used include:

 

Dialysis machine tubing

Urinary catheters

Long-term intravenous tubing, sometimes called central lines

 

Conditions that impair the immune system

If your immune system is affected by a medical condition or medication, you have a greater risk of osteomyelitis. Factors that may suppress your immune system include:

 

Cancer treatment

Poorly controlled diabetes

Needing to take corticosteroids or drugs called tumor necrosis factor inhibitors

Illicit drugs

People who inject illegal drugs are more likely to develop osteomyelitis because they may use nonsterile needles and are less likely to sterilize their skin before injections.

 

Complications

Osteomyelitis complications may include:

 

Bone death (osteonecrosis). An infection in your bone can impede blood circulation within the bone, leading to bone death. Areas where bone has died need to be surgically removed for antibiotics to be effective.

Septic arthritis. Sometimes, infection within bones can spread into a nearby joint.

Impaired growth. Normal growth in bones or joints in children may be affected if osteomyelitis occurs in the softer areas, called growth plates, at either end of the long bones of the arms and legs.

Skin cancer. If your osteomyelitis has resulted in an open sore that is draining pus, the surrounding skin is at higher risk of developing squamous cell cancer.

Prevention

If you have been told that you have an increased risk of infection, talk to your doctor about ways to prevent infections from occurring. Reducing your risk of infection will also minimize your risk of developing osteomyelitis.

 

In general, take precautions to avoid cuts, scrapes and animal scratches or bites, which give germs easy access to your body. If you or your child has a minor injury, clean the area immediately and apply a clean bandage. Check wounds frequently for signs of infection.

 

In 1948 I was 18 months old and developed a case of Osteomyelitis in my right leg and was admitted to the nearest hospital in Franklin, Virginia.  As young as I was, I remember the event like it was yesterday.   My mother and grandmother were hovering about, and an orthopedic surgeon would appear from time to time and give my mother an update.  I remember he never spoke to me once.  My right let was in a sling pulled high above me and we learned I was allergic to Sulfa drugs.  Medicine, in general, was primitive in 1948 but my right leg survived and at age 75 I run on a treadmill overnight before bedtime.  I will never forget that orthopedic surgeon telling my mother I may have to lose my right leg.  You know how the expression goes, “Surgeons are not always right, and they are not always wrong, but they are always sure.”

 

Jan Ricks Jennings, MHA, LFACHE

Senior Consultant

Senior Management Resources, LLC

Jan.Jennings@EagleTalons.net

JanJenningsBlog.Blogspot.com

412.913.0636 Cell

724.733.0509 Office

 

 

                                                                            

Gaucher disease

 

 

Overview

Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function.

 

The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures. If the bone marrow is affected, it can interfere with your blood's ability to clot.

 

An enzyme that breaks down these fatty substances doesn't work properly in people with Gaucher disease. Treatment often includes enzyme replacement therapy.

 

Gaucher disease is an inherited disorder most commonly found in Jewish people of Eastern and Central European descent (Ashkenazi). Symptoms can appear at any age.

 

Symptoms

There are different types of Gaucher disease, and signs and symptoms of the disease vary widely, even within the same type.

 

Siblings, even identical twins with the disease can experience different levels of severity. Some people who have Gaucher disease have only mild or no symptoms.

 

Most people who have Gaucher disease have varying degrees of the following problems:

 

Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.

Skeletal abnormalities. Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.

Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.

More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age.

 

When to see a doctor

If you or your child has the signs and symptoms associated with Gaucher disease, make an appointment with your doctor.

 

 

Causes

Autosomal recessive inheritance pattern

 

Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher changed (mutated) gene for their child to inherit the condition.

 

Risk factors

People of Eastern and Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher disease.

 

Complications

Gaucher disease can result in:

 

Delays in growth and puberty in children

Gynecological and obstetric problems

Parkinson's disease

Cancers such as myeloma, leukemia and lymphoma

 

 

 

Contemporary treatment of Gaucher disease

 

Gene replacement uses a new, working copy of the malfunctioning gene to replace the function of a nonworking or missing gene. This new gene is able to give the body instructions for making a particular protein the body needs.

 

This gene is created in a laboratory and then packaged in a delivery vehicle called a vector. This vector carries the gene into the nucleus of specific cells. Depending on the vector used, the gene may become part of the cell’s DNA, or it may stay separate. Either way, it starts to make the protein that’s missing or in short supply.

 

Gene therapy has been an area of study in humans since 1990. In late 2017, a gene replacement therapy was approved for the first time in the US to treat a rare, inherited form of vision loss.

 

Many gene therapies are currently being investigated in clinical trials.

 

Jan Ricks Jennings, MHA, LFACHE

Senior Consultant

Senior Management Resources, LLC

 

Jan.Jennings@EagleTalons.net

JanJenningsBlog.Blogspot.com

 

412.913.0636 Cell

724.733.0509 Office

 

 

 

 

 

                                                                           

Polio

 

 

Overview

Polio is a contagious viral illness that in its most severe form causes nerve injury leading to paralysis, difficulty breathing and sometimes death.

 

In the U.S., the last case of naturally occurring polio was in 1979. Today, despite a worldwide effort to wipe out polio, poliovirus continues to affect children and adults in parts of Asia and Africa.

 

The Centers for Disease Control and Prevention (CDC) advises taking precautions to protect yourself from polio if you're traveling anywhere there's a risk of polio.

 

Adults who have been vaccinated against polio who plan to travel to an area where polio is occurring should receive a booster dose of inactivated

poliovirus vaccine (IPV). Immunity after a booster lasts a lifetime.

 

Symptoms

 

Although polio can cause paralysis and death, the majority of people who are infected with the virus don't get sick and aren't aware they've been infected.

 

Nonparalytic polio

Some people who develop symptoms from the poliovirus contract a type of polio that doesn't lead to paralysis (abortive polio). This usually causes the same mild, flu-like signs and symptoms typical of other viral illnesses.

 

Signs and symptoms of nonparalytic polio which can last up to 10 days, include:

 

Fever

Sore throat

Headache

Vomiting

Fatigue

Back pain or stiffness

Neck pain or stiffness

Pain or stiffness in the arms or legs

Muscle weakness or tenderness

 

Paralytic syndrome

 

 

 

This most serious form of the disease is rare. Initial signs and symptoms of paralytic polio, such as fever and headache, often mimic those of nonparalytic polio. Within a week, however, other signs and symptoms appear, including:

 

Loss of reflexes

Severe muscle aches or weakness

Loose and floppy limbs (flaccid paralysis)

Post-polio syndrome

Post-polio syndrome is a cluster of disabling signs and symptoms that affect some people years after having polio. Common signs and symptoms include:

 

Progressive muscle or joint weakness and pain

Fatigue

Muscle wasting (atrophy)

Breathing or swallowing problems

Sleep-related breathing disorders, such as sleep apnea

Decreased tolerance of cold temperatures

 

When to see a doctor

Check with your doctor for polio vaccination recommendations before traveling to a part of the world where polio still occurs naturally or where oral polio vaccine (OPV) is used, such as Central and South America, Africa and Asia.

 

Additionally, call your doctor if:

 

Your child hasn't completed the vaccine series

Your child has an allergic reaction to the polio vaccine

Your child has problems other than a mild redness or soreness at the vaccine injection site

You had polio years ago and are now having unexplained weakness and fatigue

 

Causes

Poliovirus can be transmitted through direct contact with someone infected with the virus or, less commonly, through contaminated food and water. People carrying the poliovirus can spread the virus for weeks in their feces. People who have the virus but don't have symptoms can pass the virus to others.

 

Risk factors

Polio mainly affects children younger than 5. However, anyone who hasn't been vaccinated is at risk of developing the disease.

 

Complications

Paralytic polio can lead to temporary or permanent muscle paralysis, disability, bone deformities and death.

 

Prevention

The most effective way to prevent polio is vaccination.

 

Polio vaccine

Most children in the United States receive four doses of inactivated poliovirus vaccine (IPV) at the following ages:

 

Two months

Four months

Between 6 and 18 months

Between ages 4 and 6 when children are just entering school

IPV is safe for people with weakened immune systems, although it's not certain just how protective the vaccine is in cases of severe immune deficiency. Common side effects are pain and redness at the injection site.

 

Allergic reaction to the vaccine

IPV can cause an allergic reaction in some people. Because the vaccine contains trace amounts of the antibiotics streptomycin, polymyxin B and neomycin, it shouldn't be given to anyone who's reacted to these medications.

 

Signs and symptoms of an allergic reaction usually occur within minutes to a few hours after the shot. Watch for:

 

Difficulty breathing

Weakness

Hoarseness or wheezing

Rapid heart rate

Hives

Dizziness

If you or your child has an allergic reaction after any shot, get medical help immediately.

 

 

 

Adult vaccination

In the U.S., adults aren't routinely vaccinated against polio because most are already immune, and the chances of contracting polio are minimal. However, certain adults at high risk of polio who have had a primary vaccination series with either IPV or the oral polio vaccine (OPV) should receive a single booster shot of IPV.

 

A single booster dose of IPV lasts a lifetime. Adults at risk include those who are traveling to parts of the world where polio still occurs or those who care for people who have polio.

 

If you're unvaccinated or your vaccination status is undocumented, get a series of primary polio vaccination shots — two doses of IPV at four- to eight-week intervals and a third dose six to 12 months after the second dose.

 

Rotary International vs. Polio: A Timeline

Rotary is an international community that brings together leaders who step up to take on the world’s toughest challenges, locally and globally. The eradication of polio is one of their longest standing and most significant efforts. Along with their partners they have helped immunize more than 2.5 billion children against polio in 122 countries. They have reduced polio cases by 99.9 percent worldwide and we won't stop until we end the disease for good.

 

Jan Ricks Jennings, MHA, LFACHE

Senior Consultant

Senior Management Services, LLC

Jan.Jennings@EagleTalons.net

JanJenningsBlog.Blogspot.com

 

412.913.0636 Cell

724.733.0509 Office

December 18, 2021

 

 

                                                                                 Spina bifida

 

 

 

Overview

Spina bifida is a birth defect that occurs when the spine and spinal cord don't form properly. It's a type of neural tube defect. The neural tube is the structure in a developing embryo that eventually becomes the baby's brain, spinal cord and the tissues that enclose them.

Normally, the neural tube forms early in pregnancy and it closes by the 28th day after conception. In babies with spina bifida, a portion of the neural tube doesn't close or develop properly, causing defects in the spinal cord and in the bones of the spine.

Spina bifida can range from mild to severe, depending on the type of defect, size, location and complications. When necessary, early treatment for spina bifida involves surgery — although such treatment doesn't always completely resolve the problem.

Types

  

Spina bifida can occur in different types: spina bifida occulta, myelomeningocele (my-uh-lo-muh-NING-go-seel) or the very rare type meningocele (muh-NING-go-seel).

Spina bifida occulta

"Occulta" means hidden. It's the mildest and most common type. Spina bifida occulta results in a small separation or gap in one or more of the bones of the spine (vertebrae). Many people who have spina bifida occulta don't even know it, unless the condition is discovered during an imaging test done for unrelated reasons.

Myelomeningocele

Also known as open spina bifida, myelomeningocele is the most severe type. The spinal canal is open along several vertebrae in the lower or middle back. The membranes and spinal nerves push through this opening at birth, forming a sac on the baby's back, typically exposing tissues and nerves. This makes the baby prone to life-threatening infections and may also cause paralysis and bladder and bowel dysfunction.

Symptoms

Signs and symptoms of spina bifida vary by type and severity, and also between individuals.

·         Spina bifida occulta. Typically there aren't any signs or symptoms because the spinal nerves aren't involved. But you can sometimes see signs on the newborn's skin above the spinal defect, including an abnormal tuft of hair, or a small dimple or birthmark. Sometimes, the skin marks can be signs of an underlying spinal cord issue that can be discovered with MRI or spinal ultrasound in a newborn.

·         Myelomeningocele. In this severe type of spina bifida:

o    The spinal canal remains open along several vertebrae in the lower or middle back

o    Both the membranes and the spinal cord or nerves protrude at birth, forming a sac

o    Tissues and nerves usually are exposed, though sometimes skin covers the sac

When to see a doctor

Typically, myelomeningocele is diagnosed before or right after birth, when medical care is available. These children should be followed by a specialized team of doctors throughout their lives, and families should be educated on the different complications to watch for.

Children with spina bifida occulta typically don't have any symptoms or complications, so usually only routine pediatric care is needed.

Causes

Doctors aren't certain what causes spina bifida. It's thought to result from a combination of genetic, nutritional and environmental risk factors, such as a family history of neural tube defects and folate (vitamin B-9) deficiency.

Risk factors

Spina bifida is more common among whites and Hispanics, and females are affected more often than males. Although doctors and researchers don't know for sure why spina bifida occurs, they have identified some risk factors:

·         Folate deficiency. Folate, the natural form of vitamin B-9, is important to the development of a healthy baby. The synthetic form, found in supplements and fortified foods, is called folic acid. A folate deficiency increases the risk of spina bifida and other neural tube defects.

·         Family history of neural tube defects. Couples who've had one child with a neural tube defect have a slightly higher chance of having another baby with the same defect. That risk increases if two previous children have been affected by the condition. In addition, a woman who was born with a neural tube defect has a greater chance of giving birth to a child with spina bifida. However, most babies with spina bifida are born to parents with no known family history of the condition.

·         Some medications. For example, anti-seizure medications, such as valproic acid (Depakene), seem to cause neural tube defects when taken during pregnancy. This might happen because they interfere with the body's ability to use folate and folic acid.

·         Diabetes. Women with diabetes who don't have well-controlled blood sugar have a higher risk of having a baby with spina bifida.

·         Obesity. Pre-pregnancy obesity is associated with an increased risk of neural tube birth defects, including spina bifida.

·         Increased body temperature. Some evidence suggests that increased body temperature (hyperthermia) in the early weeks of pregnancy may increase the risk of spina bifida. Elevating your core body temperature, due to fever or using a sauna or hot tub, has been associated with a possible slightly increased risk of spina bifida.

If you have known risk factors for spina bifida, talk with your doctor to determine if you need a larger dose or prescription dose of folic acid, even before a pregnancy begins.

If you take medications, tell your doctor. If you plan ahead, some medications can be adjusted to diminish the potential risk of spina bifida.

Complications

Spina bifida may cause minimal symptoms or minor physical disabilities. But severe spina bifida can lead to more significant physical disabilities. Severity is affected by:

·         The size and location of the neural tube defect

·         Whether skin covers the affected area

·         Which spinal nerves come out of the affected area of the spinal cord

This list of possible complications may seem overwhelming, but not all children with spina bifida get all of these complications. And these conditions can be treated.

·         Walking and mobility problems. The nerves that control the leg muscles don't work properly below the area of the spina bifida defect. This can cause muscle weakness of the legs and sometimes paralysis. Whether a child can walk typically depends on where the defect is, its size, and the care received before and after birth.

·         Orthopedic complications. Children with myelomeningocele can have a variety of problems in the legs and spine because of weak muscles in the legs and back. The types of problems depend on the location of the defect. Possible problems include orthopedic issues such as:

o    Curved spine (scoliosis)

o    Abnormal growth

o    Dislocation of the hip

o    Bone and joint deformities

o    Muscle contractures

·         Bowel and bladder problems. Nerves that supply the bladder and bowels usually don't work properly when children have myelomeningocele. This is because the nerves that supply the bowel and bladder come from the lowest level of the spinal cord.

·         Accumulation of fluid in the brain (hydrocephalus). Babies born with myelomeningocele commonly experience accumulation of fluid in the brain, a condition known as hydrocephalus.

·         Shunt malfunction. Shunts placed in the brain to treat hydrocephalus can stop working or become infected. Warning signs may vary. Some of the warning signs of a shunt that isn't working include:

o    Headaches

o    Vomiting

o    Sleepiness

o    Irritability

o    Swelling or redness along the shunt

o    Confusion

o    Changes in the eyes (fixed downward gaze)

o    Trouble feeding

o    Seizures

·         Chiari malformation type II. Chiari malformation (kee-AH-ree mal-for-MAY-shun) type II is a common brain abnormality in children with the myelomeningocele type of spina bifida. The brainstem, or lowest part of the brain above the spinal cord, is elongated and positioned lower than usual. This can cause problems with breathing and swallowing. Rarely, compression on this area of the brain occurs and surgery is needed to relieve the pressure.

·         Infection in the tissues surrounding the brain (meningitis). Some babies with myelomeningocele may develop meningitis, an infection in the tissues surrounding the brain. This potentially life-threatening infection may cause brain injury.

·         Tethered spinal cord. Tethered spinal cord results when the spinal nerves bind to the scar where the defect was closed surgically. The spinal cord is less able to grow as the child grows. This progressive tethering can cause loss of muscle function to the legs, bowel or bladder. Surgery can limit the degree of disability.

·         Sleep-disordered breathing. Both children and adults with spina bifida, particularly myelomeningocele, may have sleep apnea or other sleep disorders. Assessment for a sleep disorder in those with myelomeningocele helps detect sleep-disordered breathing, such as sleep apnea, which warrants treatment to improve health and quality of life.

·         Skin problems. Children with spina bifida may get wounds on their feet, legs, buttocks or back. They can't feel when they get a blister or sore. Sores or blisters can turn into deep wounds or foot infections that are hard to treat. Children with myelomeningocele have a higher risk of wound problems in casts.

·         Latex allergy. Children with spina bifida have a higher risk of latex allergy, an allergic reaction to natural rubber or latex products. Latex allergy may cause rash, sneezing, itching, watery eyes and a runny nose. It can also cause anaphylaxis, a potentially life-threatening condition in which swelling of the face and airways can make breathing difficult. So it's best to use latex-free gloves and equipment at delivery time and when caring for a child with spina bifida.

·         Other complications. More problems may arise as children with spina bifida get older, such as urinary tract infections, gastrointestinal (GI) disorders and depression. Children with myelomeningocele may develop learning disabilities, such as problems paying attention, and difficulty learning reading and math.

Prevention

Folic acid, taken in supplement form starting at least one month before conception and continuing through the first trimester of pregnancy, greatly reduces the risk of spina bifida and other neural tube defects.

Get folic acid first

Having enough folic acid in your system by the early weeks of pregnancy is critical to prevent spina bifida. Because many women don't discover that they're pregnant until this time, experts recommend that all adult women of childbearing age take a daily supplement of 400 to 1,000 micrograms (mcg) of folic acid.

Several foods are fortified with 400 mcg of folic acid per serving, including:

·         Enriched bread

·         Pasta

·         Rice

·         Some breakfast cereals

Folic acid may be listed on food packages as folate, which is the natural form of folic acid found in foods.

Planning pregnancy

Adult women who are planning pregnancy or who could become pregnant should be advised to get 400 to 800 mcg of folic acid a day.

Your body doesn't absorb folate as easily as it absorbs synthetic folic acid, and most people don't get the recommended amount of folate through diet alone, so vitamin supplements are necessary to prevent spina bifida. And it's possible that folic acid will also help reduce the risk of other birth defects, including cleft lip, cleft palate and some congenital heart defects.

It's also a good idea to eat a healthy diet, including foods rich in folate or enriched with folic acid. This vitamin is present naturally in many foods, including:

·         Beans and peas

·         Citrus fruits and juices

·         Egg yolks

·         Milk

·         Avocados

·         Dark green vegetables, such as broccoli and spinach

When higher doses are needed

If you have spina bifida or if you've previously given birth to a child with spina bifida, you'll need extra folic acid before you become pregnant. If you're taking anti-seizure medications or you have diabetes, you may also benefit from a higher dose of this B vitamin. Check with your doctor before taking additional folic acid supplements.

 

Jan Ricks Jennings, MHA, LFACHE

Senior Management Consultant

Senior Management Resources, LLC

 

Jan.Jennings@EagleTalons.net

JanJenningsBlog.Blogspot.com

412.913.0636 Cell

724.733.0509 Office

 

December 17, 2021