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What is “newborn screening,” and why is it important?  My child has diabetes, where can I get help with her nutritional needs?  What is PKU?  My child has Galactosemia – what’s that?  How do I know if my child is allergic to a food?  What are metabolic disorders and how do I know if my child has one?

Newborn screening

Early detection is vital to the health of an infant born with a metabolic disorder.  Metabolic disorders prevent the breakdown of food and may cause the build up of deadly chemicals in the body.  Undiagnosed, many metabolic disorders can cause brain damage, mental retardation, seizures, and even death. Although newborns are screened at the hospital for a variety of defects and disorders, such as phenylketonuria (PKU) and congenital hypothyroidism, not all states screen for the same things. Of the more than 50 potential disorders to screen for, most states screen for less than half.   Visit Save Babies Through Screening at http://www.savebabies.org/ or the National Newborn Screening and Genetics Resource Center http://genes-r-us.uthscsa.edu/index.htm to find out what other metabolic disorders your state screens for and to determine whether or not you should pursue supplemental screening.  See our Well-baby section for more information on infant screening.

Metabolic disorders

Metabolism is the broad term used for the way the body breaks down and builds up substances. These processes are essential for normal life.  For children with metabolic disorders, these processes do not occur correctly.  This can lead to many problems, including the build-up of dangerous chemicals in the body that can cause mental retardation or death.  For this reason, newborn screening is essential for prompt prevention and treatment for any metabolic disorder.  The following is a partial list of some of the metabolic disorders that have a nutritional component.  It is not a complete list, but it may provide an introduction for newly diagnosed families.

Juvenile diabetes: type 1

According to the Juvenile Diabetes Foundation (JDF), over one million Americans have type 1 diabetes.  There is no cure, and those with the disease must take insulin by injection throughout their lifetime.  Complications of diabetes can result in kidney failure, amputation, blindness, and the development of other chronic diseases.  Careful monitoring of blood sugar levels throughout each day and conscientious planning and supervision of diet is required to maintain a normal balance and avoid these complications.  Here are some facts about type 1 diabetes offered by JDF:

• It affects young children – although some people are diagnosed later in life, most type 1 diabetics are diagnosed early in childhood.
  

• While insulin helps control type 1 diabetes, it doesn’t cure the disease.
  
• Constant attention is required, including blood sugar testing, close and careful monitoring with family physician or pediatrician, and insulin injections.
  
• Even the most diligent diabetics can experience complications and difficulty managing their disease because of uncontrollable factors like hormone change, growth, and other illnesses.

Type 2 diabetes

Type 2 diabetes is the most common form of diabetes.  People with type 2 diabetes are not insulin-dependent and often are referred to as having “adult onset diabetes” because it usually affects adults.  However, type 2 diabetes is becoming more common in children as overweight and obesity increases.  Type 2 diabetes can often be prevented or controlled with diet.  A pediatrician can offer more information or can refer you to a registered dietitian.  Nutrition information can also be found at www.diabetes.org, but this cannot take the place of individual counseling with your pediatrician or dietitian.

Galactosemia

Galactosemia is an inherited disease where the body cannot change galactose (a sugar found in milk and some other foods) to glucose (sugar in a form the body can use), causing toxic levels of galactose in the body. Untreated galactosemia can damage organs, including the brain, and may cause death.  Symptoms of galactosemia include vomiting, diarrhea, cataracts, and lethargy.  If your child is diagnosed with galactosemia, she must maintain a galactose-free diet (avoiding milk and milk products, legumes(beans), organ meats, and processed meats) for life.  About 1 out of 50 thousand to 70 thousand babies are born with galactosemia.

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a disorder that occurs when the body does not have an enzyme called phenylalanine hydroxylase.  This missing enzyme causes high levels of phenylalanine to build up and become toxic in the body.  Phenylalanine is an amino acid present in all animal products.  If dietary intervention does not start within a few weeks of birth, mental retardation, seizures, and other neurological disorders may occur.  Individuals with PKU must maintain a strict diet for the duration of their lives in order to prevent mental impairment.  Dietary restrictions for individuals with PKU include all high protein foods, artificial sweeteners (i.e. aspartame), and regular flour among others.  All products containing phenylalanine must clearly say so on the food label or nutrition facts panel.

What to do if your child tests positive for a metabolic disorder

Finding out that your child has a metabolic disorder can be frightening.  Don’t panic!  Most metabolic disorders can be treated and will allow your child to live a near-normal life.  It is very important for you to play an active role in caring for your child and teaching her to care for herself.  Here are a few tips for handling a newly diagnosed metabolic disorder:

• Become educated.
  Learn what the metabolic disorder is and what you need to do to treat the disorder or maintain health.  The Internet is a good place to find information, but make sure that the information you are using is current and from a reputable source (trained medical personnel, reputable association or organization, etc.).  There is a great deal of incorrect information on the Internet, so be sure to discuss any changes in routine, herbal medications, or alternative therapy with your physician.

• Establish a routine and stick to it.
  Having a planned routine for managing the disorder is vital.  Your child will become used to treatments, scheduled feedings, and doses of medications, which will make treating the disorder easier.  Also, establishing a routine early will help teach your child to care for herself.

• Get support.
  You don’t have to deal with it alone.  Talking about your experience can help you learn from and teach valuable techniques to others, help deal with overwhelming feelings of isolation, and give hope when things are tough.  There are support groups on-line and through many medical facilities for families and caregivers of these disorders.  A partial list follows in the Resources section of this text.  Ask your social worker or physician to recommend other support resources.

• Work closely with health professionals. 
  Those trained in caring for your child’s metabolic disorder are your best allies.  Carefully listen and ask questions when meeting with the doctors, registered dietitians, and other healthcare professionals.  Their expertise is your child’s bridge to better health.

Food allergies

Food allergies occur in 2 to 4 percent of children under 6 years of age.  Allergic reactions can range from minor to severe, and if a food causes your child to have an allergic reaction, it should be avoided.  Some children, although not allergic, are sensitive to certain foods. Food sensitivities are minor reactions to foods that cause slight discomfort, such as an itchy throat or burning stomach.  People who have food sensitivities may want to avoid those foods because of discomfort, but the reaction is not usually severe. The following products are the most likely to cause food sensitivity or allergic reactions:

• Milk and milk products (including casein)
  
• Eggs and egg products (including albumin)
  
• Peanuts and peanut products
  
• Tree nuts and tree nut products
  
• Soybeans and soybean products
  
• Fish and fish products
  
• Shellfish and shellfish products
  
• Cereals containing gluten
  
• Seeds
  

• Itchy, red skin

• Tingling or swelling in the mouth, tongue and the throat
• Difficulty breathing
• Vomiting
• Abdominal cramps and/or diarrhea
• Drop in blood pressure

Severe food allergies, if not caught in time, can be deadly.  If your child shows signs of allergies, talk to your pediatrician.  If your child does have a food allergy, read all food labels carefully. Call the manufacturer if you’re still uncertain about the contents. In some cases, physicians will suggest diphenhydramine (ex. Benedryl ®), or epinephrine (ex. EpiPen®) to treat serious reactions.

Resources

American Diabetes Association
The American Diabetes Association is a non-profit dedicated to research for diabetes.  It is an excellent resource for nutritional information as well as details on the disease and control.
http://www.diabetes.org/ 

Children’s PKU Network
This is a non-profit organization that provides information for children with PKU and their parents.  Newborn and maternal packets are available for more information.
www.pkunetwork.org

Children with Diabetes
Kids have a special place to go for information on controlling their diabetes, nutrition, and more!
http://www.childrenwithdiabetes.com/index_cwd.htm

Food Allergy and Anaphylaxis Network
This is an organization comprised of families, dietitians, nurses, physicians, school staff, representatives from government agencies, and the food and pharmaceutical industries.
http://www.foodallergy.org/index.html
http://www.fankids.org/FANKid/kidindex.html - site for children with food allergies

Food and Drug Administration: Food Allergies
This link will take you to the FDA sites on food allergies.
http://www.cfsan.fda.gov/~dms/wh-alrgy.html

Galactosemia.org
Galactosemia.org is a non-profit organization run by parents.
www.galactosemia.org;

Health and Human Resources: Diabetes
The U.S. Department of Health and Human Services has fact sheets and resources on diabetes.
http://www.hhs.gov/topics/diabetes.html

Juvenile Diabetes Foundation (JDF)
JDF is a non-profit organization dedicated to children with diabetes.
www.jdf.org

National Center on Birth Defects and Developmental Disabilities
A division of the Centers for Disease Control and Prevention, this site offers information on birth defects and developmental disabilities.
http://www.cdc.gov/ncbddd/

National Diabetes Educational Program
This is a partnership of the National Institutes of Health, the Centers for Disease Control and Prevention, and more than 200 public and private organizations.
http://www.ndep.nih.gov/

National Newborn Screening and Genetics Resource Center (NNSGRC)
NNSGRC is a cooperative agreement between the Maternal and Child Health Bureau Genetic Services Branch and the University of Texas Health Science Center at San Antonio Department of Pediatrics.
http://genes-r-us.uthscsa.edu/index.htm

National PKU News
News and Information about Phenylketonuria is a national non-profit in Seattle, WA, started by a professional dietitian named Virginia Schett MS, RD.  This organization provides a wide variety of information and resource links, as well as an optional subscription newsletter.
http://www.pkunews.org/

Save Babies Through Screening
Save Babies Through Screening is a non-profit organization started by Dallas and Tersa Mize that offers a wealth of information on infant screening.  You can find out what disorders your state automatically screens for and locate resources for additional screening.
www.savebabies.org