MSUD Newsletter
Articles selected from Vol. 18, No. 2, Fall/Winter 2000-01
 | Approximately
300 persons attended the MSUD Symposium 2000 held in Danvers, Massachusetts. Seventy-five
families who have children with MSUD were represented and most of them brought
their children. The photos with this article are of some of the children and adults
with MSUD. It seems nearly impossible to get them all together at one time for
picture-taking. The families in attendance were from 24 states and five countries—Canada, Chile, Puerto Rico, Brazil and Ireland. |
One
of the letters of appreciation written by a parent sums up the general feeling
of many parents attending for the first time. This letter is from Paula Ruter
from Michigan. The Ruters are considering hosting the next Symposium in 2002.
Lance and I are on the train right
now on our way home from the Symposium. Of course, I have been replaying highlights
of the weekend in my mind. I wish that I could have memorized every single word
that was said. I feel so many emotions right now—overwhelmed,
empowered, affection towards our new friends, and sadness because the weekend
went by so fast.
When I try to think of everything that we learned this weekend, my mind goes blank, but not because of lack of information. Actually, just the opposite. I simply cannot narrow everything down. Lance and I learned more in two days than in the three years that Anna has been alive.
One thing we learned is to never take Anna or MSUD for granted. Scott Foster's story drove this home for us. The thought that Anna could lose her battle with MSUD at any time is a sobering one.
Dr. Morton's lectures were a wealth of information for us. We were scribbling notes down furiously! We are especially thankful for the information on cerebral edema. We had never been informed about it, nor told of the risks and effects of it. We also never realized the effect that other amino acids, like tyrosine, have on the body. Another important aspect of the Symposium for us was connecting with other families who know exactly what we are going through. Through this, we have created strong bonds with others we would have never met otherwise.
Both Friday and Saturday nights, Lance and I were up past midnight (way past our bedtime!) talking with other families. The funny thing is, they were all from Michigan, Indiana or Ohio. We all live less than a day's drive from each other, but because of our busy lives, it took the Symposium to bring us all together. I have to admit, right now I feel a little overloaded with information. Yet, as Lance puts it, "Increased knowledge is the best weapon to fight this disease."
| Darien Silva from Massachusetts is another parent who wrote about her experience. Having just returned from the glorious life-restoring Symposium, I wanted to write to say how grateful I am to everyone who worked so hard to make this special time of sharing and learning experience possible. Spending time with the wonderful families and professionals is always a pleasure. I very much appreciate the big discount on the hotel room rates. Thanks for the good food, the good bed, the good companionship and the good laughs and cries! It's people like all of you who make the nicest things possible! I'm looking forward to seeing you at the next Symposium. Meanwhile, I send my best wishes to all of you. |
All of this was possible because of the great support of the many members of our support group. This includes all those who send in their $10 yearly fee or donate generously above that amount, and all those involved in planning and participating in Symposium 2000. Herb Foster raised a generous $10,000 with a golf tournament and hosted the Symposium. Trish Mullaley, a PKU parent, gave a great deal of time and energy helping Herb with the planning and hosting. Cathy Codner made travel arrangements for many families.
Because of a very generous grant from the United Service Foundation in New Holland, Pennsylvania, a number of families had the opportunity to attend for the first time. Wayne Brubacher was responsible for assisting these families with arrangements.
It takes much work and effort to provide these Symposiums, and they are costly. The MSUD Support Group and the hosting parties try hard to make it affordable for everyone wishing to attend. Here is another letter from a mother whose trip was financed by the United Service Foundation. This letter sums up what many others have written after receiving financial help to attend the Symposium.
I
would like to thank you for allowing me this experience. I am a single parent
of three. My youngest daughter has MSUD. She is two years old. Since she was an
infant, I've wanted to meet other children and families. I have left my telephone
number with therapists and doctors with patients with the disease. Till this day,
I still haven't received a response. This convention has been so educational and
overwhelming. I now have a better understanding of the different effects the disease
has on different people. I've learned more in these couple of days than I have
in the two years I've been living with the disease. It's been just fantastic meeting
people from all parts of the country. Thanks for having such a kind heart and
for being considerate enough to include me and my family in this event. I am deeply
appreciative and thankful. God bless.
| As is evident by the photos, the children, teens and adults with MSUD have a great time playing and sharing with others who eat the same foods and drink the same formulas (medical foods). As one mother wrote: The display of the low protein foods was wonderful. I am always glad to see new foods. We parents even liked to taste them! The vendors are an important part of the Symposiums, and we certainly appreciate their support in displaying and providing information on their products as well as the monies they donate to help finance these events. |
An incident at the Symposium that I treasure, is watching two little girls playing on the portable stage located at the back of the auditorium. I got a picture of one happy girl jumping down the steps, but I missed one. Dannielle Forde from Ireland, sporting a feeding tube and a happy carefree grin, stood on the platform at the edge of the steps. With a delighted look of anticipation, she flexed her knees several times and, whispering encouragement to herself, she readied herself to take a BIG jump. Then I spied her mother silently creeping up behind her. With a swift scoop, she was rescued. Dannielle may have a feeding tube, but it didn't stop her from enjoying the Symposium. Her parents, Dan and Anne wrote: We have learned so much in a short time and met some very nice people in our situation. We go home with great hope and confidence for the future. Don't miss being part of the group at Symposium 2002.
|   Children can have fun even behind the occupied parents. |
Latisha Love-Gregory, a genetics student at the University of Missouri-Columbia, attended Symposium 2000. She graciously offered to summarize selected presentations and submitted two summaries, one on MSUD treatment and one on research. Following these two summaries is an article on litigation involving newborn screening and an article on the highlights of the Adult/Teen Panel. The last article in this section "Parenting Leadership" was presented by Cristine Trahms, a registered dietitian.
Progress and Understanding Treatment of MSUD
Presented by Holmes Morton, MD
Dr. Morton's talk focused primarily on the effect of the disease on the central nervous system.
To illustrate the progress in the treatment of MSUD, Dr. Morton presented the case of a nine-day-old infant. The baby was referred to the Clinic because of a positive newborn screening test. The results were unfortunately late (as many parents have experienced first hand), and the baby was suffering from symptoms of Classic MSUD. However, within 36 hours of treatment, the baby's branched-chain amino acid levels had decreased significantly, and by 48 hours of treatment, the levels were within normal range. After 72 hours of treatment, the baby was taking formula by mouth, and her neurological exams had begun to normalize. By day five, she was ready to go home.
This was accomplished by metabolic management as opposed to the old method of dialysis. Metabolic management involves reducing the levels of the branched-chain a-keto acids and keeping patients hydrated so that these a-keto acids are removed from the body, thus reducing leucine levels.
Dr. Morton dazzled the audience with success stories that were the result of metabolic management. Of the 37 MSUD newborns that were diagnosed and treated by Dr. Morton at his Clinic in Strasburg, PA over the past eight years, 18 were diagnosed 12 to 24 hours postnatally. (This was possible because the parents had been tested and identified as carriers of the MSUD gene or had other children with MSUD.) With good metabolic management, none of these 18 babies became ill. The average hospital stay for Dr. Morton's patients is now 4 days compared to the months of hospitalization endured by patients and families years ago.
Understanding the systemic [pertaining to the whole body] management of MSUD improves treatment. This involves understanding the management of the many variables that make MSUD so complex. These variables include:
One of the many challenges faced by Dr. Morton, along with other physicians and researchers, is understanding MSUD's effect on the brain. Knowing the level of leucine is important, but it is just as significant to determine the pattern of amino acid variation in general which leads to the neurological symptoms. To emphasize this principle, the audience was given a quick lesson in neuroanatomy. Dr. Morton analyzed and interpreted MRIs and amino acid profiles from the records of several patients with metabolic disorders who were battling cerebral edema.
While treating these patients battling edema, Dr. Morton and his colleague, Kevin Strauss, made a significant observation: the severe edema was very sensitive to extracellular serum osmolarity and their sodium level was related to the brain edema. Dr. Morton concluded that the increased leucine concentrations block the export of other amino acids which require a sodium-dependent transporter for moving efficiently across the cell membrane. This causes the cells to take up more water and swell.
Understanding the effect of MSUD on the brain involves more than understanding cerebral edema. Doctors and scientists need to look deeper and explore the relationship of leucine, valine, and isoleucine to other amino acids essential for the normal functioning of the nervous system. Therefore, the continued progress in the treatment and management of MSUD relies heavily upon diagnosing these patients as newborns in order to develop a better understanding of the interrelationship of leucine, valine and isoleucine to the remaining essential amino acids.
Genetic and Biochemical Approaches to MSUD
Presented
by David Chuang, PhD
Dr. Chuang's talk focused on MSUD research performed by his laboratory and colleagues.
Although MSUD was first reported about 46 years ago, Dr. Chang stated, "There is still no cure for MSUD, but progress has been made in biochemistry, molecular genetics, and in the treatment of the disease." Dr. Chuang attributes this achievement to the tremendous advances made in research over the last 15 years. His talk focused on several aspects of MSUD research.
One aspect is the biochemistry of MSUD which involves studying the interaction of the biomolecules which constitute the Branched-Chain a-keto Acid Dehydrogenase (BCKD) complex and their relationship to other cellular components. The BCKD complex plays a vital role in the catabolism of leucine, isoleucine and valine. It was quite exciting to hear that Dr. Chuang, along with his colleagues, had resolved the crystal structure of the branched-chain a-keto acid dehydrogenase. This is the first report of resolving the crystal structure of any human a-keto acid decarboxylase. The highlight is that, with this knowledge, researchers could now predict more confidently how certain mutations may interrupt the normal functioning of the BCKD complex and cause MSUD.
The molecular genetics (studying and identifying the genes which encode the BCKD complex) and the mutational analysis of MSUD are tasks that can be tedious when identifying new mutations that lead to MSUD. There are six different genes that encode for the BCKD complex; however, only 4 of them have been fully sequenced at the DNA level. To further complicate matters, the four genes are located on different chromosomes in the genome, and a mutation in any one of them has the potential to cause MSUD. As Dr. Chuang explained, mutational analysis is very important. To emphasize this, he listed several points:
Dr. Chuang also commented that in order to use gene therapy, doctors first need to know which of the patient's genes is affected. But, as he informed the audience, "This is not as simple as it sounds."
The study of assembly defects involves utilizing biochemical strategies to determine how the proteins that constitute the BCKD are shaped and folded, as well as, how the proteins potentially interact. From his extensive studies with cell cultures, Dr. Chuang was able to conclude that the defects in protein folding and assembly, caused by certain MSUD mutations, can be partially reversed by specific chemical compounds. Dr. Chuang stressed that this is just the beginning, and these observations depend greatly upon the nature of the defect which causes MSUD.
Newborn Screening and Litigation
By Chuck Hehmeyer
Chuck Hehmeyer is an attorney from Philadelphia who is very concerned about the number of children who die or are damaged because they were not picked up by newborn screening. He presented "Newborn Screening's Potential Litigation" at Symposium 2000. Rather than printing a summary of that talk, here is an article he wrote for this issue of the Newsletter.
Newborn screening (NBS) in the United States has been a great success on one hand, yet a great public health failure on the other. It's wonderful to see most kids with PKU and congenital hypothyroidism (CH) growing up healthy today. But it's sad that children with so many other disorders that benefit from early intervention (like MSUD, MCAD, GA1, Galactosemia, etc.) often are not screened.
| Quiz
question: How many states in the U.S. currently screen for MSUD? | I represent a beautiful little girl in Texas with classic MSUD who sat in a coma in the ICU of a major hospital from day seven of life until day 21 while lab studies were "pending." It is a miracle she is even alive. Of course she is now profoundly delayed. Her doctors were confused by her presentation (mistaking it for sepsis). NBS should and could have prevented the heartache of this little girl, her family and her doctors. But Texas doesn't screen for MSUD. Why? |
Most of us know that Robert Guthrie
pioneered NBS in the U.S. Frustrated by early opposition to PKU screening from
the American Academy of Pediatrics (AAP), Dr. Guthrie and PKU parents went straight
to the state legislatures. (It's true, the AAP opposed PKU screening in the 1960s.)
Their compelling presentations resulted in legislated PKU screening in all 50
states, saving scores of children over the next 35 years from a lifetime of disability.
Unfortunately, this prompted legislatures to delegate NBS oversight to state departments
of health, resulting in state employees deciding the future progress
and development of NBS. Since then, doctors have almost completely abdicated their
responsibility for thinking about metabolic screening to public health officials.
This situation is unique to NBS and really a historical quirk due to Dr. Guthrie's decision to go directly to the state legislatures. Doctors, rather than government, continue primary oversight of other medical screens like pap smears, mammography, prostate exams, glaucoma testing, hearing exams for newborns and children, etc.
While we now have uniform screening in the U.S. for PKU, CH and sickle cell disorders, NBS varies dramatically from state to state for the 30 or so other metabolic disorders that (1) benefit from early intervention and (2) are difficult or impossible to diagnose before a child is harmed. Let's call it what it is: newborn roulette.
| Today
we know that tandem mass spectrometry reliably and inexpensively identifies more
than 20 disorders (including MSUD) using the same blood spots Dr. Guthrie pioneered—which
are obtained from every U.S. newborn. But few states use this technology.
State departments of health have proven to be poor managers of NBS systems for
familiar reasons. State health officials resist innovation and protect state screening
jobs—at any cost—from competition from private labs that do the screening
more accurately and less expensively. Even when states themselves invest in tandem
mass spectrometers, they engage in what amounts to on-the-job training for the
first few years (suffering unnecessary false negatives) rather than just awarding
state screening contracts to experienced private labs like NeoGen in Pittsburgh.
|  Left foreground: Melissa and Jessica Berman with John Devantier (All three with MSUD). Right foreground: Samson Li and daughters (Edlecta in seat has MSUD). Back left: Kathryn Burkholder (cured of MSUD with liver transplant) and center, Austin Sprock (MSUD) held by grandmother. Photo taken at Symposium 2000. |
So
what can we do? Obviously, parents and support groups make great advocates. I
encourage all parents to lobby state legislatures, departments of health, and
even the media, to demand that screening be expanded to all disorders that benefit
from early intervention. Additionally, parents of children harmed by delayed diagnosis
of a controllable metabolic disorder should know that it may be possible to redress
this wrong in the legal system.
The first question parents usually ask is whether we can sue the state for not screening or force the state to begin comprehensive screening. The answer is almost universally no. State entities are immune from suit, particularly for what the courts view as discretionary legislative and/or executive action. We live in a democracy, and lobbying and voting are the appropriate remedies for perceived mistakes in policy making by government officials. [State laboratories can be sued in some states for mistakes in the screening and reporting process itself (e.g., Ohio: yes, California: no), but the courts will never permit lawsuits to answer what they view to be executive/legislative policy questions like what metabolic disorders to screen for.]1
Although we cannot sue states
themselves for failing to offer comprehensive NBS, in some states we can sue HMOs
and hospitals for failing to screen. I have filed three such suits—two in
Pennsylvania and one in Texas. There is an interesting split in the U.S. Some
states permit suits alleging that the whole medical profession lags behind in
adopting new technology. Some don't. States like Pennsylvania, Washington and
Texas permit suits against medical professionals for not adopting clearly appropriate
technology—even if none of the other healthcare providers in the
state offer the technology. The argument is: hospitals and HMOs cannot insulate
themselves from liability for failing to keep up with important developments simply
by uniformly failing to use them. Other states (e.g., Ohio) allow medical professionals
to set their own standard of care exclusively, no matter how unreasonable. These
states say, essentially, if all the hospitals do it, it's okay legally—no
matter what. (By the way, no other group gets this special treatment—except
doctors.)
We've
made the most headway on newborn screening by suing doctors (pediatricians, neonatologists,
ER and NICU doctors, etc.) for delay in diagnosis of a sick child with a metabolic
disorder. When doctors realize that they wouldn't be in this position if the child
had been screened, they put the heat on. In Pennsylvania, we now have
over 95% voluntary participation in supplemental newborn screening using
tandem mass spectrometry.
Answer
to the quiz question: As of July 2000, only
20 states in the U.S. screen for MSUD—less than half.2
If the little girl in Texas with MSUD had been born in Georgia or Alaska, she
would go to normal school today. But she wasn't, and she's not. Ivory tower public
health officials have no problem justifying this. But they could never explain
how this makes sense to the family of that little girl. I doubt they could explain
it to twelve ordinary people on a jury.
1. This is another strong argument in favor of opting for screening by private laboratories rather than state labs. State labs that are immune from suit do not have the strong economic incentive that private labs have to get it right.
2. Pediatrics, August 2000, Volume 106, No. 2 (supp.) p. 393.
Teen/Adult MSUD Panel says, "You MUST Drink and Drive!"
Trish
Mullaley presided over the Teen/Adult Panel as they fielded questions from the
audience. She shares an account of the panel discussion.
 The teen/adult panel in the background. From the left: Mark Silva, Katy Foster, Lauren Codner, Leanna Peters (hidden), Vanessa Funes, Emily Talley, Jeffery Fredricks, Melissa Berman, and Shayla Brubacher. In foreground to the left is Nikolai Rudd and to the right is Michael and Sharlene Woorman. All of these are teens and adults who have MSUD. | You
must drink your formula if driving. This message was heard crystal clear at this
past MSUD Symposium 2000. Teenage and adult individuals with MSUD stressed very
strongly the importance of drinking formula before getting behind the wheel of
a car. The drivers said that lack of formula makes them feel tired and less alert
and indicated that no matter what, formula must come first. This includes during
sporting activities, at school and anywhere requiring full attention.
Having MSUD does not seem to have a negative impact on sports. Those individuals with MSUD, who are also involved in sports, seem to have enough energy providing they drink plenty of their formula. |
It
seems that all of these bright young ladies and gentlemen are well aware of their
disorder and the consequences that follow if they do not comply. When asked if
any of them had ever cheated on their diet, the response seemed uniform. Cheating
is really not an option since their leucine level will elevate making them feel
almost drunken or lethargic. While all admitted to having done some cheating,
they also indicated that they didn't feel well and felt guilty; therefore, cheating
just doesn't seem worth it. Their perception of "cheating" is consuming larger
amounts of leucine than their daily allotment.
When asked if their friends
know about their having MSUD, most responded that they do. Responses were mixed
when asked just how much their friends know about the disorder. Some are not shy
and are of the opinion that they really don't care what others think. Their friends
seem to understand the seriousness of the disorder, and, therefore, watch what
their MSUD friend eats at a party and watch for odd behavior. Others, who are
more introverted, tell their friends only what they need to know. They keep things
simple. Their friends know that they have dietary restrictions for medical reasons,
and that's it.
All
of them seemed to understand things from a parent's perspective and showed respect
and concerns for parents raising a child with MSUD. While many admitted that they
didn't like having their parents hovering over them when they were younger, in
hindsight, they seemed to grasp just how scary it must be for a parent to raise
a child with a disorder that can be life threatening.
This was a wonderful, articulate group of young men and women. Kudos to them and their parents for a job well done!
—Trish Mullaley
More Parent Comments on Symposium 2000
The Move From Compliance Toward Shared Management
Cristine Trahms, from the Department of Pediatrics, University of Washington Seattle, presented these models and guidelines for managing a chronic condition—such as MSUD. This material also appeared in Pediatric Nursing 2000.
Children
with chronic conditions encounter all the typical challenges of growing up in
addition to special ones that stem from their condition and its management. However,
overall health outcomes remain similar despite the presence of the chronic condition.
These outcomes are well detailed in the Bright Futures model (See graphic).
The model begins with the development of a therapeutic alliance when the child
is an infant and progresses through a continuum of social, developmental, and
health outcome achievements that lead to an independent, healthy adult. Children
with chronic conditions should achieve these same health outcomes.
Children and youth ideally progress through appropriate developmental stages to become knowledgeable and capable participants in their own care. Typically this developmental process parallels development in other areas of the children's lives. When successful, the process enables children to share in the management of their health condition and to achieve the outcomes articulated in Bright Futures.
Bright Futures
Health Supervision Outcomes
Central to the concept of health supervision is the belief that specific preventive and health-promoting interventions lead to desired outcomes. The social, developmental, and health outcomes summarized below contribute to the overall health and well being of infants, children, adolescents, and families. These outcomes occur along a continuum, varying in their timing from child to child and family to family.
Independence_|
Sense of morality_|
Sense of identity_|
Self-esteem_|
Self-efficacy and mastery_|
Reduction of high-risk behavior_|
Educational/vocational
success_|
Social competence_|
Self-responsibility_|
Personal safety_|
Success in school_|
Good health habits_|
Prevention
of secondary disability and dysfunction_|
Promotion
of developmental potential_|
Prevention of behavior problems_|
Injury prevention_|
Early autonomy_|
Optimal nutrition_|
Parental
effectiveness_|
Immunizations_|
Promotion of family strengths_|
Adaptation_|
Parental preparation_|
Therapeutic alliance_|
Taken from Bright Futures: Guidelines for Health Supervision of Infants, Children, and Adolescents, M. Green, Ed. Arlington, VA: National Center for Education in Maternal and Child Health, 1994. http://briqhtfutures.orq
Developmental
models underline the concept that learning is based on cognitive readiness. The
developmental approach also provides a forward momentum for the child's
self-management skills and responsibilities. Parents monitor the child's progress
and emotional status and support the child's efforts and negotiate changes in
responsibility as appropriate. By working with the child, rather than
doing for the child, the parent comes to know when the child has mastered
skills at the current level and is ready to move on.
The second model, the Leadership
model, shows the direction of shifting responsibility for care of the chronic
disorder from parent to child. It depicts by bold arrows the need for the parent
to guide this movement and the important idea that both parents and child have
a role to play. (See graphic)
The Leadership model indicates the dynamic nature of the parent-child relationship during effective management of a chronic disorder. Initially, the parent provides all of the necessary care of the child, regardless of the child's age. As the child matures in cognitive and physical skills and gains experience in managing the condition, the parent transfers some of the responsibility for self-care to the child. The parent becomes the manager and the child the provider for these carefully articulated skill-appropriate responsibilities. The parent is available to support the child's provider skills and stands ready to re-assume some of these tasks for a short time if it is necessary because the child is ill or other life complications require additional parent support.
(LEADERSHIP MODEL GOES HERE) put heading The Leadership Model
As the child becomes more confident and competent in self-management, the parent and child negotiate the next step. The parent becomes the supervisor and the child becomes the manager of specific tasks. The parent is, again, poised to resume the managerial role or specific tasks for a short time, if necessary. However, the parent and child must both understand and agree that the child should not be allowed to regress to a previous stage. The parent provides additional support during times of stress, and the child continues to develop self-management skills and responsibility.
Eventually, the parent assumes a consultant role in the child's management of his/her disorder and the child becomes the supervisor, manager, and provider of care. The parent supplies information, support, decision-making guidance, and resources, but the child assumes ultimate responsibility for his/her health care as the CEO.
The question remains: How do families keep focused on the big picture of their child's general growth, implement the actions necessary over time to move their child forward in shared management, while remaining ever mindful of the condition specific needs of their child? Successful families operate by changing the focus to immediate medical needs or to normative family life depending on the current needs of the child and family.Each child with a chronic medical
disorder has a component of specific immediate medical needs that must be interwoven
into normative individual, family, and community life. During times of wellness,
these specific medical needs may appear to be in the background and remain relatively
out of focus. They are, however, present and always able to be brought back into
clear focus by the family if the need should arise.
The models require bringing together many components into an effective dynamic system that is day-to-day family functioning. Some of the components can be systematized so that they function as integral parts of normative family or community life and thus effectively guide management of the chronic condition so that it remains in normative rather than crisis focus. Some systematic approaches that have been reported as effective are: 1. A system of monitoring of the condition. Parents who are successful develop a system for monitoring the disorder that is integral to family daily life and activities. Some successful system components are (1) the weekly structured family meeting; (2) disease management tasks integrated as a part of daily family tasks, i.e., the family chore schedule indicates take out the garbage, brush your teeth, drink your "milk," pack your lunch for school; (3) a notebook is kept on the kitchen counter for recording food eaten or other activities related to medication (notes are added as events occur). 2. A system for involving the child at skill level. The tasks that are the child's responsibilities are based on the child's physical and cognitive capabilities, e.g., a toddler may count the number of crackers for lunch while a third grade student may prepare formula independently on Saturday morning.
|  |
3. A system for evaluating the child's success/errors and remediating these errors. Parents and family members support success by pointing out to the child evidence of successful management as it occurs, such as consumption of formula without a reminder, as well as the natural consequences of poor management, such as developing strategies to insure that after school formula is consumed.
4. A system for celebrating small successes. If something is a two-stage process, celebrate each step along the way rather than just the final outcome. For example, celebrate the child's remembering to select the correct snack foods at a surprise party for a friend, as well as maintenance of a low weekly branched- chain amino acid level.
5. A system to prevent parental burnout. Parents need ongoing support for themselves since management of the disorder is a lifelong parental and child activity. Support of the child, emotional or physical, doesn't stop at age 10, or 13 or 18 years. Successful children have parents who remain involved in a qualitatively different way but do remain involved in the child's life. Parents who are able to remain consistent and supportive of their child but also negotiate the direct management role based on the child's skills and needs do not suffer from "parenting burnout" as readily as parents who assume the total and on-going responsibility for the child's health and health management.
Effective parental support of a child with a chronic condition requires a thoughtful parenting strategy. Parents do not have the luxury of casual or inattentive parenting. They are required to be focused and anticipatory in their parenting style if their child is to successfully accomplish both the developmental tasks of childhood and disorder management.
Actions that Support Leadership Skills
| Stage/Age | Child Capabilities/Actions That Form the Basis for Leadership Skills | Parent's Leadership/Actions to Support the Child's Growing Capabilities |
| Infant
(0-12 months) | Though
dependent on parents for care, it is helpful if the child gives clear cues of
distress so parents can grow in the recognition of emergent needs and make appropriate
responses For example, clear cues of hunger and satiety help the parent understand when to offer formula and when to withdraw it Clear cues of optimal health (adequate growth, development, and social interaction) also enable parents to identify the positive impact of their actions to promote good management | Learn
ramifications of the condition and how/what resources can help
Learn how to ask questions that can assist managing the condition in the context of an overall healthy living pattern Participate in support activities to increase knowledge of disorder and its management Develop routine regarding daily treatment that fits with family life patterns Recognize signs of immediate distress and seek emergency care Recognize signs of early distress and seek evaluation Learn to acknowledge those challenges that are developmentally typical for most children versus challenges specific to the child's condition Learn how to share information with extended family and daycare providers See/acknowledge evidence that the child is thriving under attentive management Assume the role of "repository for condition specific information" regarding the child's reaction to the treatment |
| Toddler
(1-3 years) | Cooperate
with routine treatments Help hold equipment and work with parent to make equipment function as needed, for example, use of blender to prepare formula Develop a sense that parents are a source of help/comfort Accept constraints of condition and treatment with limited behavioral acting out, for example, "yes foods/no foods" Understand firm limits of parents, for example, "no" | Develop
rituals regarding treatment so child knows what to expect and can begin to learn
through repetition Begin to recognize that the child needs to have roles in the management of the condition Identify possible roles the parents are willing to begin to share with the child Change the established management routine based on the child's growing capabilities and areas of cooperation Continue to build clinical and community support network |
| Preschool
(4-5 years) | Identify
body parts important to early identification of a problem or treatment
Test limits of cooperation Magical thinking may lead to fears Imitate adult's behaviors Learn labels for condition specific "problems" in order to communicate treatment needs Learn labels for feelings associated with condition and its treatment so can communicate feelings | Acknowledge
regressions, allow very brief period of reorganization and then resume and praise
prior skill performance Set fair and appropriate limits Model acceptance of the management routines and limits Encourage some flexibility in rituals of treatment so child begins to experience multiple ways to accomplish same goal Develop relationships with school personnel regarding specific needs |
| Early School Age (6-9 years) | Recognize
and act on 1 or 2 of major internal body cues of a problem
Actively participate in concrete monitoring of condition Increase understanding of condition, i.e., cause and effect, a concrete level of what's going on inside the body to necessitate management | Continue
to label cues and give positive reward for child's recognition
Start negotiating with child for what each party will do regarding management and set criteria for forward movement that fits with family life Be prepared to re-negotiate for cause! Establish logical consequences for actions Negotiate the "rules" for working together to get all necessary treatments completed Be positive and reinforcing about what needs to get done Support normative activities and integrate treatment needs Model telling others about the disorder for the child Discuss the approach to telling teachers, friends, coaches, etc. about the disorder and the amount of detail necessary to share |
| Late school age (10-12 years) | Increased
level of understanding of condition—begin to understand long-term needs
Use labels that are medically correct in order to effectively discuss with providers Learn how and when to respond to peer pressure yet still take care of self Enact most psychomotor skills associated with treatment with parental support Learn
more sophisticated system for reporting symptoms, management steps, outcomes
Develop specific set of self-management tasks that are completed independently | Remain
present for the child that is involved in care and monitoring decision-making
Accept the manager versus CEO role in much of treatment Insure child has told important others: friends' parents, coaches, etc. of the condition and what assistance they could provide if needed "Be there" in case of emergencies and new aspects of disorder Provide the tools so the child can self-manage (get the formula, get the prescriptions) Support the child in actively communicating with their provider Encourage discussion of the child's monitoring system so as to help them grow in understanding |
| Early adolescent | Main
manager of daily, routine care Develop strategies to complete all of the necessary routine management tasks Know how to effectively ask for assistance in complex situations Know where can be flexible vs. not flexible and be able to enact the flexibility when appropriate | Shadowing
of parent activities Negotiating and re-negotiating of who does what. Becoming the consultant versus remaining the manager Discuss new issues (sex/drug/alcohol) for their normative and any special condition effects |
| Late adolescent | Make
a commitment to lifetime treatment Increase understanding of the disorder and its long term as well as short term consequences on other aspects of life- vocations, intellectual achievement, well being etc. Sense of self as capable manager of disorder Integrate the realities of the condition with the invincible nature of their years Appreciate benefits that the constraints of management allow Continue to develop more independent clinic and community support network as transition to adult-based care services | Develop
a flexible way of communicating with the youth in order to stay informed while
not seen as interfering Remain present for support and problem solving with the youth Provide support and guidance as the youth transitions from pediatric to adult care services |
C.M. Trahms and G. Keickhefer, "Chronic Illness in Children: Supporting the Development of Children as They Move From Compliance Toward Shared Management." Pediatric Nursing, 2000.
MSUD Management Timeline
|
Age
of Child | Tasks for Children and Parents |
| 0-6 months | Parents learn about and adjust to MSUD |
| 6 months | Start low-protein solid foods |
| 6-7 months | Introduce cup |
| 8-9 months | Introduce finger foods |
| 10-15 months | Consider weaning from bottle (discuss transition with clinic staff) |
| 2-3 years | Learn
the concept of "formula first" Learn to distinguish "yes" and "no" foods |
| 4-5 years | Begin
to learn to count foods—"how many" Begin to use scale—"how much" |
| 5-6 years | Assist
in formula preparation Teach children how to deal with other children's curiosity about MSUD |
| 7-10 years | Prepare
formula with decreasing supervision Choose after school snack Learn to pack school lunch Begin to list foods on food record Begin weighing food regularly on scale |
| 10-12 years | Begin
to prepare and consume formula independently
each day (with parental monitoring)
Prepare simple entrees independently Know what blood levels are ideal |
| 13-14 years | Increasing
self-monitoring (with continued parent support)
in formula preparation and consumption
Independently manage total leucine intakefor
the day Learn menu planning Responsible for food records |
| 15-17 years | Responsible
for all aspects of self-management Able to do "finger poke" for blood test Able to explain basics of MSUD—"What is it?" Responsible for remembering recent blood levels Continued parent support |
| 18 years | Transition
to adult-based clinic care Ready to live independently, including: —formula preparation and consumption —food preparation and records —blood tests for serum BCAA levels as requested |
University of Washington, 2000 |
