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The Regional Metabolic Clinic (RMC) is run by clinic coordinators who provide case management. In addition to organizing clinic days, the coordinators follow patient care between visits and ensure that clinic recommendations are acted upon in a timely manner. The coordinators are also available throughout the year to help patients and their families with any needs, questions, or concerns that arise between clinics as well as to provide emotional support. |
| Case Management services include: 1) working with patient and family to create individualized treatment plans 2) coordinating medical testing and appointments 3) addressing psychosocial issues related to the condition, such as barriers to compliance with treatment recommendations. When a patient/family attends a clinic appointment, they are seen by the providers of the multidisciplinary team in a succession of private appointments. Clinic visits can last anywhere from 1-3 hours depending upon the number of providers a patient/family is scheduled to see. The type of information that is discussed during these visits includes:
Sometimes a physical exam is also performed, and patients are weighed and measured at nearly every clinic. Specialty providers from the following disciplines will see patients on clinic day:
Genetics: Genetic Counseling services may include:
Neurology: Nutrition: Nursing: Psychosocial:
Please visit the Genetics 101 section for more information about genetic inheritance and common inheritance patterns. Most metabolic conditions are “autosomal recessive.” “Autosomal” means that the condition can affect both males and females. “Recessive” means that the person with the disorder has two copies of the malfunctioning gene: one from the mother and one from the father. Although each parent carries one of these malfunctioning genes, they do not have the disorder themselves. This is because they each also carry one "working" gene, and this one gene, on its own, is able to keep their metabolism functioning normally. The "non-working" gene is called the “recessive” gene because its presence is masked by the "working" gene. People with one working and one non-working gene are called “carriers” for a recessive condition. Most carriers are perfectly healthy and normal. Prenatal Diagnosis is offered to families under certain specific situations. Generally, the families must meet the following conditions: (1) There must be a known family history of a metabolic disorder (2) The genetic mutation(s) that caused this disorder in the family has/have been identified. Genetic mutations can sometimes be identified by genetic testing techniques, usually this means a blood test. The family member
who has the known metabolic disorder is tested first. If the mutation(s) can
be identified, prenatal testing can sometimes be provided.. If the mutation(s) cannot be identified, prenatal testing usually cannot be offered. This is true even when the family member definitely has the metabolic condition in question. Metabolic conditions may be caused by more than one mutation. There are times when the mutation(s) that caused the disorder in that particular person has not yet been discovered, nad in such cases prenatal diagnosis may not be possible.
Many patients come to the RMC after being identified by the California State Newborn Screening Program. The NBS has been expanded to include many metabolic diosrders. For more detailed information about the California Newborn Screening Program, please see the California Department of Health Services Newborn Screening Program website: Most metabolic conditions require that the individual follow certain diet restrictions. In some cases the diets are quiet limited, therefore finding appropriate, tasty, and nutritious products can be a challenge. In addition, the diets often require that serving portions of certain types of food be carefully measured in order to determine that the amount consumed is within the guidelines for safety. Over time, these tasks can become second nature, but initially it requires a lot of work, including keeping a daily journal to stay on track. Even after the details of the treatment have become routine, it is still necessary to complete written diet records for the health care providers to review. These written records not only help in assessing eating patterns over time, but they also provide valuable information when combined with blood and/or urine tests. Diet Records Before having certain laboratory blood and/or urine tests, you may be asked to complete a 3-day diet record. Instructions and record forms for completing a diet record are below. How to Measure Foods: The following table is a list of comparisons between common standard measurements that can be helpful when calculating portion sizes:
Gram scales can be ordered from: How To Order Low-Protein Specialty Foods: This section applies only to those who have
a metabolic disorder that requires a low-protein diet. Following a low-protein diet can be a challenge. One way to increase variety is to purchase low-protein specialty products. For instance, rather than simply avoiding all breads and pastas, try using low-protein breads and pastas instead. Kaiser Permanente has contracted with several different specialty food companies to offer a limited amount of specialty low-protein foods to RMC patients who require a low-protein diet and are under the care of the Metabolic Clinic. To order these products simply call the RMC (510-752-7703) for a set of order forms. Fill these out and return them to the clinic for review. The coordinators will then have the forms forwarded on to the particular companies you have chosen to order from, and the food will be delivered directly from the companies to your home. Kaiser has contracts withthe following vendors. (Please note: All orders must be placed through the RMC). The charge for orders placed directly with the vendors will not be covered by Kaiser. Please visit the follwoing websites as the availablity of products changes frequently. Many websites have low-protein recipes online. Cambrooke Foods Other low-protein food companies that you might want to try are listed below. Products ordered from these companies are not covered by Kaiser. Applied Nutrition
Since people with metabolic conditions usually have restricted diets, it is often difficult for them to receive an adequate amount of certain nutrients. The nutrients missing in the diet must be consumed in a different form, typically through special formulas or supplements or both. A. How to Order Metabolic Formula: Please Note: If you have any problems receiving your order, please contact one of the RMC coordinators immediately. B. Ways to Mix Metabolic Formula: 2. Shaker: In order to improve the taste, or just for some variety, metabolic formulas can be mixed with many different ingredients. Some examples include: pureed or frozen fruit, nondairy creamer, flavored extracts, Mocha Mix, Kool-Aid, or Tang. If you are experiencing difficulty taking the formula as prescribed, do not give up. Talk with your metabolic nutritionist about possible solutions.
Ordering Metabolic Medications Some of the treatments recommended by the RMC team are classified as “supplements” and others are classified as “medications.” In general, medications require a prescription and supplements do not. Supplements may be available over-the-counter, such as multi-vitamins and minerals. However, occasionally a patient needs a supplement that must be specially ordered through the Metabolic Pharmacy. Medications must always be ordered through the Metabolic Pharmacy. To help simplify the ordering and delivery of medications, we have established a special Metabolic Pharmacy within the Kaiser system. This is how it works: 1. Initial orders will be placed with the
Metabolic Pharmacist by one of the RMC coordinators.
4. Orders will be sent directly to your
home (or the address of your choice). List of Metabolic Medications:
Preventing complications is one of the main goals in the treatment of any disorder, including metabolic conditions. One of the best ways to do this is through frequent monitoring, usually in the form of special blood and/or urine tests. Results from these tests can help determine whether the treatment (e.g., diet, formula, and/or supplements) is actually working to keep the patient as healthy as possible and prevent poor outcomes before they occur. For almost all blood tests, a 3-day diet record is recommended. The diet record is an important part of interpreting the test results. It is hard to get an accurate picture of what is happening inside the body without having the information provided by the diet record. In addition to lab testing, patients are regularly weighed and measured at clinic and other medical visits in order to monitor growth and development. Reports from these other medical visits (e.g., ophthalmology, endocrinology, physical therapy, etc) provide important information on how the patient is progressing. Even non-medical tests/reports (e.g., school testing) are used to determine how well the treatment is working and whether any additional interventions are needed. The type and frequency of testing will vary with each individual, even if they have the same condition. This is partly because everyone is different and, while there are general guidelines, treatment must also be based on the needs of the individual. Additionally, the degree of disorder can vary from person to person. Some might have a milder case, while others have a very severe form. It would not make sense to treat everyone in exactly the same way under these circumstances. The providers at the Kaiser Permanente Regional Metabolic Clinic will work with you in order to design the treatment plan that will work the best given your particular needs and life circumstances.
Monitoring is important to determine whether the other two parts of the treatment (diet and formula) are actually working to keep the blood phe levels low. It is best to find this out before the person with PKU experiences any of the possible bad effects (as discussed above). PKU is monitored by testing phenylalanine levels on a regular basis. This requires a blood sample, either drawn from the inside of the elbow at a lab or by finger sticks at home. Either way, the blood is placed on special PKU filter paper and sent in for testing. A. How To Do Home Testing: Collecting blood at home requires a finger stick, sometimes more than one as you need enough blood to fill all 4 circles on the filter paper. If you wish to test at home, a nurse from the Metabolic Clinic can teach you how. Materials Needed: Procedure: Please note: most blood samples must be taken after completing a three-day diet record. Please mail or fax the diet record directly to the Regional Metabolic Clinic at 280 West MacArthur Boulevard, Oakland, CA 94611. Fax number: (510) 752-6367 or (510) 752-1574. 1. Make sure filter pad form is completely
filled out with your name, your doctor's name, and the time
and date of the sample you are about to collect. Mailing Instructions: a. Place filter paper
in a regular envelope Possible Problems: 1. Difficulty getting enough blood to fill
all 4 circles: 2. Inadequate specimens: B. How to Interpret PKU Test Results There is some controversy over how much phenylalanine (Phe) in the blood is safe and how often it should be checked. However, in the year 2000, the National Institute of Health (NIH) invited PKU specialists from across the country to come together to discuss the matter. From these meetings, the national PKU Consensus was created. This Consensus is a set of recommendations for the treatment of PKU and is summarized in the table below: Recommended Blood Phe Levels:
Recommended Frequency of Monitoring Phe Levels:
Please note: The general consensus among the RMC team is that children between 1-2 years old should be tested every other week and on a monthly basis for all those over the age of 2 years, with the exception of pregnant women who need weekly testing.
Metabolic Disorders vs Food Allergies It is important to note that metabolic disorders are not the same as food allergies. An allergy involves the immune system: the system that protects the body against invading germs. Metabolic conditions involve the digestive system: the system that turns food and beverages into products the body can use or eliminate as waste. In terms of symptoms, an allergy typically causes an immediate reaction: rashes, itching, nausea, difficulty breathing. However, the symptoms of a metabolic disorder do not usually show up right away. The unwanted substance gradually builds up in the body over time as the person continues to eat certain foods, and only then do the symptoms appear. In addition, the symptoms of metabolic disorders are not only caused by eating the wrong thing, but also by not eating enough of the right things. For instance, a cold or flu might make a person not want to eat anything at all and this can actually cause a metabolic crisis in some cases. Please Note: Although it is important for people with a metabolic disorder to understand the difference between what they have and a food allergy, saying you have an allergy can be an easy way to explain the restricted diet to other people. Most people will readily accept this explanation and it can save you from having to get into a bigger discussion. Most people with metabolic disorders have “ups and downs” with their treatment (i.e., formula and diet). Some days are simply harder than others, and during the hard times feelings of anger or sadness can become overwhelming. Of course the behavior of the frustrated person is influenced by this and can range from silent brooding to all-out temper tantrums. There are many good articles and books on the subject of children’s behavior. (See Books, below)
1. How to Talk to People About Having
a Metabolic Disorder However, there may come a time where you might actually want to let someone else know about your metabolic disorder. For instance you might want to share this information with someone just because they are a friend and this is a part of who you are. The question is, how to go about it? Explanations will differ depending on the person you are telling. It is usually easiest to start with a simple explanation, like “I cannot eat anything with too much protein in it or I will get sick. That means, no meat, dairy, nuts or beans.” In many social situations this is all that needs to be said, but closer friends are typically more interested in you and will want to know more. If you are not yet ready to talk about it, just explain that you will tell them more later. Good friends will understand and allow you to tell them in your own time. Sometimes it is easier to give them a pamphlet to read rather than having to go into the finer details yourself. This can give your friend the basics and you can fill in any gaps or mis-understandings when you talk it over with them afterward. Some people like to explain their metabolic disorder by referring to it as an allergy. While this is not technically true, it can help others to understand the importance of avoiding certain foods. People tend to be more familiar with the concept of an allergy and will accept this explanation without too much difficulty or confusion. However you choose to handle a particular situation, it is important to know that having a metabolic disorder is nothing to be ashamed of. Sometimes having a metabolic disorder seems to take over your whole life. There is nothing you do, nowhere you go when you can seem to forget about it. At other times it seems hardly relevant at all and you feel just like another, ordinary, person. In many ways, having a metabolic disorder is really just another part of who you are…like height, ethnic background, or hair color. These things are all inherited and although your metabolic disorder may sometimes seem overwhelming, it is really just another part of who you are. 2. Teasing & Bullying It is important to remember that teasing and bullying are not limited to people with metabolic disorders, but is wide-spread among the general population. Listed below are some general links dealing with this topic. If you are concerned or upset about being teased or bullied, we strongly encourage you not to ignore it, especially in arenas where there is some practical recourse (both socially and legally), such as school and the workplace. Applying for Social Security Income
(SSI): To make an appointment with the Social Security Administration Office, either call 1-800-772-1213 for the number for the office closest to you, or look in the phone book in the blue government pages. The Social Security Administration accepts applications for benefits 3 months before the applicant’s 18th birthday. Since the process can be quite lengthy, we encourage you not to delay. Keep in mind that even though you may not be eligible the first time you apply, your eligibility may change over time with changes in health and employment status. You may also choose to appeal the decision. If you are found eligible for SSI benefits, you will receive a monthly check and will automatically qualify for Medi-Cal too. This is an important benefit because Medi-Cal often pays for items not covered by Kaiser as well as co-pays for durable medical equipment such as wheelchairs. Medi-Cal may also qualify you for In-Home Supportive Services (IHSS): a program that helps people with disabilities stay in their own homes. Caution: Although the parents’ income and resources cannot be included in the eligibility criteria, any money or resources that the disabled person has will be counted. If this is true in your family’s case, you may want to consider setting up a special needs trust before you apply for SSI. Please click here for more information on Special Needs Trusts. Applying for In-Home Support Services
(IHSS): Qualifying as a Disabled Adult to
Continue Kaiser Insurance: Long-Term Care Credit: The State of California allows a $500 nonrefundable long-term care credit for those taxpayers who routinely care for a disabled person. Although we are not tax experts or advisors, we encourage you to learn more about this tax credit in case it applies to your family. Please click here for more information on long-term care credits. Special Needs Trusts: Inheriting
money can disqualify people with disabilities from receiving
Supplemental Security Income (SSI), Medi-Cal, and other government
benefits. In many cases the person is worse off than before
the inheritance. Setting up a Special Needs Trust is one way
of addressing this problem. This non-government commercial
site provides some basic information on these special trusts. Resources for People with Metabolic Disorders and Their Families Books: Behavior 1. Parenting the Strong-Willed Child: The Clinically Proven Five-Week Program for Parents of Two- to Six-Year-Olds. By Rex L. Forehand, Nicholas Long. 2. Posititive Discipline By Jane Nelson, EdD. Published by Ballintine Books, New York, NY. 3. Taming the Strong-Willed Child by John Rosemond. 4. Temperment Tools: Working with your Child’s Inborn Traits. By Helen Neville, BS, RN. Published by Prima Publishing, Roseville, CA, 1998. 5. Why Can’t I Eat That!: Helping Kids Obey Medical Diets. By John F. Taylor, PhD, and R. Sharon Latta. Published by R & E Publishers, Saratoga, CA, 1987 General Nutrition 1. How to Teach Nutrition to Kids. By Connie Liakos Evers, MS, RD. Published by 24 Carrot Press, Tigard, OR, 1995 2. Why Can’t I Eat That!: Helping Kids Obey Medical Diets. By John F. Taylor, PhD, and R. Sharon Latta. Published by R & E Publishers, Saratoga, CA, 1987 Special Needs 1. The Complete IEP Guide published by Nolo Press. This book explains every nuance of the IEP process in lay terms. It provides clear concise explanations, definitions, and descriptions backed by legal codes (code reference numbers are included after every section). It also includes practical suggestions on how to deal with any problems that may arise. 2. Social Security Disability: Getting & Keeping Your Benefits published by Nolo Press. A legal guidebook to navigating the Social Security system written in plain-English. Helps the layperson to understand Supplemental Security Income (SSI) and Social Security Disability Insurance (SSDI) and the laws behind them (includes legal reference codes after each section). 3. We’re Different, We’re the Same by Bobbi J. Kates. Illus. by Joe Mathieu. Published in 1992 by Random House. Suggested ages: 4-8. Sesame Street characters learn to appreciate their differences and discover that they still have many things in common. Teasing & Bullying 1. Buddy Learns About Teasing by Jim Boulden & Mary Ann Sweet, Boulden Publishing. Suggested ages: 4-8. Story about a boy who likes to tease others and the consequences of that behavior. There are Boulden Books several books on this topic including, Buddy Learns About Bullying, Sticks & Stones, Push & Shove, and Playground Push Around. 2. Bullies Are a Pain in the Brain by Trevor Romain (Illustrator), Elizabeth Verdick. Published by Free Spirit Publishing, 1997. Suggested ages: 6-9. A humorous look at the serious problem of bullying. Offers a variety of practical suggestions on how to deal with bullies. 3. Dealing with Feeling Left Out by Don Middleton, Rosen Publishing & Hazelden/Powerkids Press, 1998. Even if your child is not being bullied or teased, feeling left out is hardly any better. This book offers suggestion on how you and your child can improve the situation. 4. Stop Picking on Me by Pat Thomas. Published by Barron’s Educational Series, Inc., 2000. A picture book about bullying for early primary grades. 5. Taking the Bully by the Horns by Kathy Noll. Sugggested ages: 8-12 years, but also good for adults working with children. Helps children understand why other children bully or tease. Offers practical strategies for dealing with bullies using martial arts guidelines of non-violence. 6. We’re Different, We’re the Same by Bobbi J. Kates. Illus. by Joe Mathieu. Published in 1992 by Random House. Suggested ages: 4-8. Sesame Street characters learn to appreciate their differences and discover that they still have many things in common. By Condition: Fatty Acid Oxidation Disorders (FOD) 1. Secrets of Fat-Free Baking by Sandra Woodruff, RD. Published by Avery Publishing Group, Garden City Park, NY, 1995 Methylmalonic acidemia (MMA)/ Propionic Acidemia (PPA) 1. A Guide for the Family of a Child with Methylmalonic Acidemia. By Mitzi A. Bame, MAT. Published by Ross Products Division, Abbott Laboratories, 1994. Available through Kaiser's Regional Metabolic Clinic. 2. Low Protein Cookery… (full title is really Low Protein Cookery for PKU, but it is a great resources for anyone on a low-protein diet.) by Virginia Schuett. Published by the University of Wisconsin Press, Madison, WN, 1997. Available through Kaiser's Regional Metabolic Clinic PKU 1. Denny the Dragon and his Magic Milk. By Nancy Beiman, Maria Rosetti, and Holly Wolf. Published by SHS North America, Gaithersburg, MD, 1995. Available through Kaiser's Regional Metabolic Clinic. 2. Low Protein Cookery for PKU. By Virginia Schuett. Published by the University of Wisconsin Press, Madison, WN, 1997. Available through Kaiser's Regional Metabolic 3. National PKU News: www.pkunews.org. News and information about PKU, published three times annually. 4. A Teacher's Guide PKU. By Mimi Kaufman, M.P.H. and Maria Nardella, MA, RD. Published by the Arizona Department of Health Services, 1985. Available through Kaiser's Regional Metabolic Clinic. 5. You and PKU. By Virginia Schuett and Margaret Taylor, illustrated by Susan Aldworth. Available by contacting Virginia Schuett c/o National PKU News, 6869 Woodlawn Avenue, NE #116, Seattle, WA 98115-5469. Contacting the Metabolic Clinic Regional Metabolic Clinic phone: (510) 752-7703 RMC Clinic Coordinators: |
Created by: Deirdre Popplewell, RN, Shana Maloney, MS, RD |