Genetics Northern California

Other common concerns

REPRODUCTIVE CONCERNS

Fertility
Fertility is normal in women with spina bifida, while many men with this condition are infertile.

Women with spina bifida should have the same success in becoming pregnant as women without spina bifida. There are sometimes problems that develop during pregnancy and delivery in women with spina bifida. Although there are few obstetricians with specific experience in working with these women, a caring, interested doctor can work closely with them to provide appropriate care.

Men with spina bifida may be infertile, but they can often have erections. Testing can be done to determine if a man has an adequate number of active sperm. A man's urologist can work with him to discuss relevant tests and reproductive options

Recurrence
The chance that spina bifida will recur in the child of a parent with spina bifida is about one in 50 for each pregnancy. Therefore, most people with spina bifida have unaffected children.

As previously mentioned, the chance of having a baby affected with spina bifida is decreased by the mother's taking folic acid daily one month before conception and during the first three months of pregnancy. A genetic counselor can meet with you to discuss recurrence risks and prevention strategies for the parent with spina bifida, a couple who has already had a spina bifida-affected child, and for relatives of the parents or child.

EARLY PUBERTY

The usual age of onset for puberty is 8-12 years old for girls and 9-14 years old for boys. People with spina bifida and other central nervous system abnormalities are at an increased risk for early or "precocious" puberty, which may start as early as age seven.

When puberty begins, the growth of long bones stops, causing these children to end up shorter than average. There can also be social and psychological consequences when a child finds him or herself physically out of step with their peer group. If necessary, there are medications that can be prescribed to delay puberty until a more appropriate age.

LATEX ALLERGIES

Allergy to latex (natural rubber) products has been reported with increasing frequency since the 1980's. People at very high risk include children with spina bifida, who may become sensitized to latex through repeated exposure during multiple surgeries, diagnostic examinations, and bladder and bowel programs.

Research studies have found that as many as 73% of children and adolescents with spina bifida are sensitive to latex as measured by blood test or patient's history of an allergic reaction.

Other individuals considered to be at high risk are:

  • healthcare workers

  • people with histories of asthma and/or other allergies

  • people with birth defects involving the bladder

  • people  who have had frequent surgeries or surgery in infancy

Latex is found in many common items, including balloons, rubber toys, carpet backing, tires, handgrips on tools, buttons on TV remotes, elastic linings in clothing, and the scratch-off portion of lottery tickets.

In healthcare settings latex may be found in protective gloves, bandages, blood pressure cuffs, syringe stoppers, and disposable diapers. Allergic reaction can occur when products containing rubber come in contact with an individual's skin or mucus membranes (tissues of the mouth, eye, vagina, penis, bladder, and rectum).

Serious reactions may also occur when latex comes in contact with internal organs during surgery, or when it enters the bloodstream following injection of medication through IV tubing/syringes containing latex.

The powder from latex gloves and latex balloons can soak up latex particles, enter the air and be inhaled, potentially resulting in a severe reaction. Allergic reactions can even occur after ingesting latex in food that has been handled by someone wearing latex gloves.

Latex sensitization means that a blood test will find latex antibodies; that is, your body's immune system has learned to recognize latex.

Latex allergy means that you display any or all of the symptoms listed below when exposed to latex. The more often a person is exposed to latex, the greater the chance that that person will become sensitized or have an allergic reaction.

Signs and symptoms of latex allergy may include:

  • localized redness or rash

  • swelling and itching of the exposed skin area

  • watering eyes and facial swelling

  • life-threatening breathing difficulties

What to do if you have a latex sensitivity
The only way to prevent allergic reactions to latex is by avoiding contact with items containing latex and latex-contaminated powder.

Due to the potentially life-threatening nature of latex allergies, it is imperative to identify all situations in which latex exposure may occur. Healthcare providers who are involved in the care of patients with spina bifida are urged to follow the guidelines listed below. It is imperative that people with spina bifida and their families are also aware of these guidelines.

  1. All individuals with spina bifida should be considered high risk for having an allergic reaction to latex and should be provided a latex-safe environment when undergoing medical procedures including dental work and throughout hospitalization.

    Healthcare items which may contain latex include: gloves, catheters, tourniquets, elastic bandages, ace wraps, blood pressure cuffs, stethoscope tubing, IV tubing injection ports, medication vials, and adhesive tape. This is only a partial list.

  2. Sexually active individuals should be given special warning related to the use of latex condoms and/or diaphragms. Non-latex condoms are now available at various pharmacies upon request, but their effectiveness against HIV/Hepatitis B virus contamination is still being evaluated. Therefore, sexually active latex- allergic individuals are requested to "double up" when using condoms.

    For example: latex allergic males are requested to use a non-latex condom directly next to their skin to avoid a latex reaction and a latex condom over the non-latex condom for barrier protection against HIV/Hepatitis B. Latex allergic women who are sexually active with a non-allergic male partner should request that their partner first put on a latex condom for barrier protection followed by a non-latex condom to avoid a mucous membrane exposure in a latex allergic woman. There are now latex-free diaphragms available from a company called Milex.

  3. A blood test and a skin test to identify latex allergy should be considered for all spina bifida patients with a history of latex reactivity. However, a negative test result does not guarantee immunity from developing latex sensitivity later on, nor does it mean that you are not latex allergic. There are hundreds of latex proteins that may trigger a latex reaction and a single test can not cover all of these proteins.

Individuals with a clinical history of known (confirmed through testing) latex allergy should follow the recommendations of the American Academy of Allergy and Immunology and wear Medic-Alert bracelets and carry self-injectable epinephrine (EpiPen).

Spina Bifida Association handout: Latex in the Hospital Environment

PRESSURE ULCERS

Spina bifida usually causes some loss of sensation (feeling) below the level of the spinal defect. There may be partial or complete loss of sensitivity to touch, pressure, pain and/or temperature.

For this reason, a person with spina bifida is more at risk for developing a burn, frostbite, or a pressure ulcer without knowing it. Pressure ulcers occur when the blood supply to an area is cut off for too long. A person who has normal sensation would feel discomfort and change position to find relief, while people with spina bifida may not have the same reaction.

Pressure areas commonly occur over bony prominences, such as the anklebone under a hard plastic splint, or over the tailbone when a wheelchair user does not shift their weight. These sores start as areas of redness that do not go away, and can become very large open wounds. It is very important that people with decreased sensation learn to visually monitor those areas of their bodies that they cannot feel. Body weight should be shifted frequently, and visual skin checks of potential pressure areas should be done nightly. This is an essential self-care activity to incorporate in the daily routine. If a pressure ulcer begins to develop, medical evaluation should be sought immediately. Areas of decreased sensation tend to heal more slowly than other areas.

Spina Bifida Clinic handout: Skin Care for Individuals with Spina Bifida

WEIGHT CONCERNS (Obesity)

Obesity is a major health threat in North America today. It is directly related to many other health problems, including diabetes, high blood pressure, heart disease, and psychological problems such as low self-esteem and depression.

Obesity is an even more serious problem for people with spina bifida. It can limit mobility and interfere with the performance of the activities of daily living. It adds to the risk for developing pressure ulcers and can lead to a negative self-image. Unfortunately, people with spina bifida are at higher risk for developing obesity. Physical activity is more difficult for those who have even slight mobility problems. Studies have also shown that people with spina bifida tend to have less lean body mass and a lower metabolic rate, meaning that they burn calories more slowly.

The best way to prevent obesity is to develop a healthy lifestyle from an early age, including routine physical activity and making wise nutritional choices. These healthy habits must begin very early and continue indefinitely. The entire family needs to be involved for it to work. The good news is that the whole family will benefit. When begun early, healthy eating and exercise habits become part of an enjoyable lifestyle, rather than a grueling life of deprivation.

Spina Bifida Clinic handout: Smart Choices for an Active Lifestyle

HYPERTENSION (High blood pressure)

Hypertension, or high blood pressure, is known as the silent killer because it can develop over time with no warning symptoms. Individuals with spina bifida are somewhat more at risk than other people for developing high blood pressure as they age, which may be a result of kidney damage or obesity. To minimize the risk for hypertension, it is recommended that you eat a healthy diet, exercise regularly, don’t sweat the small stuff, and maintain an awareness of your current range of blood pressure values.

TRANSITION TO ADULTHOOD

Because people with spina bifida can now expect to live a full span of years, it has become ever more important to consider our patients' futures. The majority of individuals with spina bifida can expect to grow old, outlive their parents, and experience the health challenges of aging.

Knowledge about spina bifida was once limited to pediatricians and other pediatric health care providers. This is no longer sufficient. Children with spina bifida can be expected to grow into adults with spina bifida. At this time, Kaiser Permanente's Regional Spina Bifida Clinic (SBC) is one of the few centers in the country that offers comprehensive adult services to its clients.

The transition to adulthood, and living a well-rounded life as an adult, does not happen automatically with age. Instead, it occurs over time with repeated exposure to a variety of experiences, challenges, partnerships, and practices that facilitate personal growth and development, confidence building, and self-care skills. Because of the physical and psychosocial challenges confronting individuals born with physical disability, transition into adult-identified roles and behaviors may be delayed.

Transition activities and services for individuals born with spina bifida should begin in infancy and continue into adulthood. Their focus should be on increasing opportunity, ability, and participation in life activities, as well as promoting self-care ability. To date, transition services routinely focus on the developmental stage from adolescence to young adulthood, stressing the transitions from pediatric to adult health care, living at home to living in the community, and transitioning from school to work.

If you have an infant or a toddler with spina bifida, it may be difficult to imagine that child managing his or her own life in twenty years. But the foundations must be laid today for the skills that these children will need tomorrow. Self-care is a set of skills and values that need to be fostered from an early age. If a six-year-old has the fine-motor coordination to catheterize him or herself, then they should be actively working on a program to perform this task. Your child's participation should not be an option, but rather an enthusiastic expectation presented early in parent-child interactions.

If children lack the fine motor skills to self-catheterize independently, they can still participate in many aspects of that task, including gathering the supplies, washing their hands, and helping to remove the catheter. Once your child has mastered the technical aspects of certain self-care activities, they will frequently still need reminders to actually perform the task.

Over time, with lots of support and reinforcement, you may begin to slowly withdraw your support, having them take on more and more responsibility. However, depending on your child's cognitive ability (intellectual skills, including memory), the need for "prompting" with respect to performing certain activities (CIC/medications) may last for several years and well into young adulthood.

As stressed previously, interdependence, rather than independence may be a more realistic goal with respect to the performance of certain activities.