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What is a metabolic disorder?


A metabolic (meh-tah-bo-lic) disorder occurs when your body cannot break down food the way it should. This can cause a buildup of toxic materials or too low levels of what the body needs. This can put your child at risk for health problems, including mental retardation, coma, even death.

When your child tests positive for a metabolic disorder, your most important task as a parent or caregiver is to follow the diet and instructions from your doctor or nutritionist. A nutritionist can work with you and your child to find a healthy diet that meets your child's needs.


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What are some common signs of metabolic disorders?


The signs for metabolic disorders can be very different. There are so many diseases of this kind that there is not just one set of symptoms. The way to find out if your child has just one of these rare diseases is through testing. (Talk with your family physician or pediatrician.) The signs that your child may show can vary from:
  • Developmental delays.
  • Mental retardation.
  • Unusually small head.
  • Vision problems.
  • Hearing loss.
  • Throwing up or diarrhea.
  • Abnormal odor to urine or body.
  • Seizures.
  • Weakness or unable to exercise.
  • Tired easily.



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What can I do to help my child now?


You have made an important first step by reading more information on metabolic disorders. You also can take is to talk with other parents of children with metabolic problems. They have gone through what you are going through now and may be able to help. You also can get help from parent support and advocacy groups such as Parent to Parent of Miami. Research tells us that the earlier we begin to help children, the better the results for the child and family.


Below are some checklists to help your child. Remember, you are not alone.

Getting Started

IN THE STATE OF FLORIDA:
 I will get my child evaluated: If your child is diagnosed with a metabolic disorder, your child should be evaluated by experts for possible developmental delays. The evaluation is free and will tell you whether your child needs services. These services may include family service coordination, physical therapy, occupational therapy, educational services or speech therapy.

For children ages birth to 3 years old, Early Steps clinics are in every county in Florida. To find your local Early Steps clinic, talk with your pediatrician or go to:


If your child is 3 to 5 years old, Child Find/Florida Diagnostic and Learning Resources System (FDLRS) will provide a free evaluation.



 Work with my child's service providers: A service provider is anyone who works with you and your child, such as a pediatrician, a physical therapist, a teacher, a principal, a social worker or any professional. Remember you know more about your child than anyone else and are the main influence in your child's life. Here are some tips for speaking with service providers:
  • Feel free to ask questions and make comments. Be specific about what you know about your child and what you want and need for your child. Be honest about what you expect, any worries you may have, or about anything you don't understand.


  • If you think your child needs something in particular (like a speech evaluation or assistive technology)...keep asking until you get it or until you learn why it is not needed.


  • Work with professionals in early intervention or in your school to write your child's IFSP or IEP to reflect your child's needs and abilities. Be sure it includes such related services as speech-language pathology, physical therapy and occupational therapy if your child needs these. Don't forget about assistive technology, too.
 I will get my child tested for rare diseases if necessary: So how do I know if I should request testing for my child? Talk with your health care provider about this extra testing:
  • Do any of your other children have a metabolic disorder?
  • Does anyone in your family have a metabolic disorder or other disorder?
  • Has an infant or young child in your family ever died and the doctor thought it might have been due to a metabolic disorder?
  • Do you have any other reason to worry that your child may be at risk for any disease?
(kidshealth.org, 2005)


All babies are given a blood test when they are born. The doctor takes a pin and pricks the heel in the baby's foot. A little drop of blood is taken and tested for several metabolic disorders. This is called universal screening. In Florida, babies are tested for 30 metabolic disorders. Babies can be tested for more than 50 rare diseases. The cost for these extra tests can be from $30 to $90.

 I will get more information: Visit more websites. Read a book. Watch a video on metabolic disorders. Include your child and family. Talk with another parent. Parent to Parent of Miami  can help you meet other parents and get services.





 I will follow all directions that my child's health care providers give for the care of my child: As soon as your child is diagnosed, you must get together with your pediatrician and discuss any medications, dietary supplements, special diets or therapy treatments your child may need.
  • Follow the specific orders for diet, dietary supplements, medication and therapy provided by the doctor.
  • Following all directions from your child's doctor can decrease or prevent the effects of the disorder.
  • Participate in all therapies, and follow all suggestions from therapists and educators. You can practice many activities suggested by the therapists or educators outside therapy sessions.
 I will educate my entire family so they can help: Educate your child early so he or she knows why they must be careful of the food they eat. Allow all your family members to participate. Do not focus on this one child and forget everyone else.

 I will help my child with learning and communicating:
  • Read or look at books with your child every day. Take turns with your child talking about the pictures that you see, and what happens next in the story.
  • Talk with your child frequently: Tell the child what you are doing and describe it: "I am folding the clean clothes. One red shirt. Here is a blue sock; here is a second blue sock. I have two blue socks." Talk about what you are buying at the store: "One box of cereal. Two boxes of cereal. Here are some yellow bananas and some red apples. We need some milk and lots of eggs."
  • Support your child as he or she learns to talk or use signs. Have your child use words or signs to tell you what is wanted. This helps develop communication. If your child tries to speak back to you, give plenty of time to answer. He or she may have much to say, but it may take longer to get it out.
  • Play with your child: Spend time each day just playing and talking with your child. This can be hard to arrange with big families or hectic life styles, but often helps. Music tapes to which a child can sing along also are very effective.
  • Ask your child's service providers and therapists what you can do at home.

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How can I deal with all of this?


First of all you need to take care of yourself!


Having a child with a disability is hard work. Yes, there are times of joy and celebration, but times of heartbreak too. It is easy to get overwhelmed.

Yes, you can make a difference in your child's life by working with your child and therapists, doctors and teachers. But before you can take care of anyone else you need to be kind to yourself. Taking care of yourself is not selfish, but instead necessary. You can't help your child if you are overworked and overstressed.

Take care of your own needs. The next time friends or family say, "What can I do to help?" let them babysit or lend a hand so you can have some time to yourself. Below are some things to "recharge your batteries":
  • Do something that makes you feel happy: It could be going out with a loved one or friends, taking a long bath or a creative project.


  • Exercise is vital for your mind, body and spirit: Remember to exercise, e.g., long walks, lifting weights, bike riding, an aerobic class. Make sure it is fun.


  • Talk with other parents of children with disabilities: (Parent to Parent of Miami  is a great place to start.) They can help with practical tips, cheer you up, and be a source of strength.


  • Stay hopeful Many parents find the following poem, "Welcome to Holland," to be a comfort. Click here to read Welcome to Holland.



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How common are metabolic disorders?


These are rare diseases and not seen often. Together, all metabolic disorders are found in only about 1 in every 4,000 people.


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Why does this happen?


Most metabolic disorders are inherited, meaning diseases passed on from parents to children through the information in your cells called genes. Metabolic disorders occur when both parents have the rare gene and then pass it on to their child. It wasn't something you did, ate or drank during your pregnancy. There was nothing you could have done to stop this from happening to your child. The important question to ask now is "What do I need to do for my child's health now?"

Your child will most likely be put on a special diet or medicine to keep the levels of the materials in your child's body where they should be. This will help to avoid high levels of toxic materials that the body makes, and too low of levels of materials that the body needs. If the levels of the materials in your child's body are allowed to get out of control by not following the doctor's orders or taking the supplements, this could be dangerous for your child's health.

If your child's metabolic disorder is not controlled and watched as it should be by a medical provider, serious medical problems or even death can occur. Therefore, all directions must be followed. If you have any serious worries or questions for your child's health at any point, find appropriate medical care immediately.


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Is there a cure or treatment?


There are no cures for metabolic disorders so your child will have this disorder throughout life. Medication and special diets can control some symptoms. There are different treatments for each disease.

In some cases, careful control of your child's diet will be needed. In other cases an organ transplant must be done to take out the organ that is not working right and put in one that will work better. It is very important to find out if your child has a metabolic disorder as early as possible so as to avoid more health problems.


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What does this mean for my child’s health?


For children with a metabolic disorder it is very important to follow all directions that every doctor or other health care provider creates for your child.

These directions help your child stay as healthy as possible. If not followed, there may be a buildup of toxic materials in the body or too low of level of materials that the body needs. Either can lead to very bad health issues.

Your child will have special medical needs, so emphasize good communication and be totally honest with your child's health-care providers. Being at every appointment on time is important. That way, your child can get all the important tests and help that the provider can offer.


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What does this mean for my child’s intelligence and learning?


The effects of a metabolic disorder on your child's learning depend on many things. Children with metabolic disorders can range in learning ability from far below average intelligence to normal learning abilities.

Thus, the education for your child must be focused on your child's needs. Be an active part of your child's education. Watch for any difficulties your child may be having in school. Discuss any concerns with your child's special educator or classroom teacher.


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Who are some professionals my child may need to see?


Your child may need to see many different health care specialists. For example:

Pediatrician: A doctor who specializes in treating children. The word "pediatric" in front of a professional's title means he or she work with children.

Pediatric physical therapist: A professional who is trained to help children make their muscles stronger and the joints in their arms, legs and chest area more flexible. This will help children improve their physical abilities.

Pediatric occupational therapist: A professional who is trained to help children with joint and muscle conditions. He or she also helps figure out what problems with these joints and muscles will have on a child's daily living, e.g., getting dressed, eating, etc. These professionals also design and suggest assistive devices to improve problem areas.

Pediatric speech-language therapist: A professional who evaluates and treats communication disorders (problems with speech) and swallowing problems. A speech-language pathologist is sometimes called a speech therapist or speech pathologist.

Pediatric psychologist: A professional who tests your child's ability to learn and reason. An evaluation is painless and usually doesn't take that long.

Social worker and counselor: A professional who provides counseling and emotional support for the child and family, and may help coordinate services, too.

Care coordinator: An individual responsible for organizing the details across agency lines and serving as your contact to help you and your family get services and assistance.

Early childhood special educator/special-education teacher: A teacher trained to work with your child, focusing attention on your child's development, and helping you learn techniques to benefit your child.

Assistive technology specialist: A person who works with individuals with disabilities to provide assistive technology solutions to help with problem areas. Assistive technology or assistive devices help a person with a disability with any daily living task such as eating, speaking, getting around, working, playing. An assistive technology specialist is familiar with many different options to help your child live life to the fullest. Learn more about what assistive technologies are available. Some services and types of assistive devices may be covered under Medicaid.


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What are some other ways to describe metabolic disorders?


You may hear these terms from your doctor or other service providers:

Metabolism is something that happens in all the cells in your body. This is how food is turned into energy and materials that your body needs. The energy and materials are then used to do everything from growing, to moving, and thinking (kidshealth.org, 2004).

Dietary Supplement is a medicine or vitamin that gives the body materials that the body needs, but cannot make. A few examples of metabolic disorders include:

Phenylketonuria (PKU): A disorder in which the body cannot break down a material in many foods called phenylalanine. If not found and treated soon after birth, this can lead to many health problems and mental retardation. This disease can be treated with a special low-protein diet developed by a doctor or nutritionist (Baylorhealth.com, 2003).

Cystic Fibrosis a disease in which the cells in the body are not able to carry chloride (a material found in salt) from different parts of the body. This leads to mucus that is thick and sticky. Children with Cystic Fibrosis usually have breathing difficulties, problems with food digestion, and poor growth and development (kidshealth.org, 2004; Baylorhealth.com, 2003). Following all the doctor's directions is very important. The child may need respiratory therapy, different medications and regular doctor visits (Baylorhealth.com, 2003).

Sickle Cell Anemia is a blood disease that causes the blood cells to be the wrong shape. Instead of round, the cells are "sickle shaped" (moon shaped), hard and pointed. These cells can get stuck in small veins all over the body, leading to pain or organ damage because the blood cannot flow to the area. Some symptoms may include difficulty breathing, getting tired easily, weight loss, repeated infections in the lungs (pneumonia). This disease can be treated by a blood transfusions or a bone marrow transplant (kidshealth.org, 2005; Baylorhealth.com, 2002).


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What are some website where I can learn more about metabolic disorders?


NIH MedlinePlus http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html A comprehensive source of links, this is a service of the U.S. National Library of Medicine and the National Institutes of Health.

KidsHealth.org http://www.kidshealth.org/parent/system/medical/newborn_screening_tests.html Information about newborn screening.

Children's Medical Services (Florida) http://www.cms-kids.com/InfantScrning1.htm This is the Florida state website. You can find information about newborn testing and basic children's health information.

Bandaids and Blackboard http://www.lehman.cuny.edu/faculty/jfleitas/bandaides/sitemap.html A great site for kids, teens and parents of kids with medical challenges.


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What are some special books I can read with my child?


Sarah and Puffle: A Story for Children About Diabetes by Linnea Mulder and Joanne H. Friar. This book for children helps them understand what is going on in their body and why they go through all the shots and pricks every day. (Ages 4-8)


The Dinosaur Tamer : And Other Stories for Children with Diabetes by Marcia Levine Mazur, Peter Banks and Andrew Keegan. This book is a compilation of 25 fictional stories about the ins and outs, ups and downs of a child having diabetes. (Teens)

Everybody Has Something by Margaret Domnick. This book shows kids that we all have something special. None of us are truly the same and "normal." This book is about differences and acceptance from a child's view. (All ages)

Someone Special Just Like You by Tricia Brown and Fran Ortiz. This book can be used to help children understand disabilities, and what they mean. (Ages 4-8)



Taking Cystic Fibrosis to School by Cynthia S. Henry and Tom Dineen. This book may be good to teach children in class with your child with cystic fibrosis. It helps children understand what cystic fibrosis is in a fun way. (Ages 4-8)


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What are some special books I can read (for parents)?


Diabetes: An Emotional Journey by Renea Jo Zosel. A book written for parents of children with diabetes, written to help parents deal with many emotions and feelings.

Cystic Fibrosis: A Guide for Patient and Family by David M. Orenstein, M.D. This book for parents with a child with cystic fibrosis explaining and advises on treatment and management.

Apples to Zucchini: Collection of Favorite Low-Protein Recipes by Virginia Schuette and Dorothy Corry. A recipe book developed for people with PKU. Recipes use naturally low-protein fruits and vegetables. Nutritional information for each recipe




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