BARRIERS, BLESSINGS AND SOLUTIONS IN ADULT METABOLIC DIETARY CARE KIMBERLY A CHAPMAN, MD PHDDANIELLE STARIN, MS RD LN

May 3, 2021

LEARNING OBJECTIVES

  Be able to discuss how adults physiologically differ from children and how this impacts metabolic diet

  Be able to list the barriers that adults present

  Be able to discuss management for life changes

ADULTS ARE NOT JUST BIG CHILDREN-PHYSICAL DIFFERENCES

  Water volume differs   (Peds: ml/kg/h; Adults 120 ml/h)

  Metabolism of medication differs   (mg/kg/d vs mg/d)

  Less plastic brains and closed fontanelles

  More end organ damage

  Females can have babies and males can father children

ADULTS ARE NOT JUST BIG CHILDREN- SYSTEM DIFFERENCES

  Adult care focuses on taking ownership of care

  Parents/caregivers not as involved

  Less is done for the patient (support services)

  Usually, shorter appointments

  No lollypops or stickers

ADULTS ARE NOT CHILDREN- PSYCHIATRIC AND PSYCHOLOGY

  Adults expect autonomous role in decision making

  Can make decisions

  Some of our patients do not have the ability to do this (their decision making is not always the best or their intellectual disabilities are limiting)

  Disease and non-disease-related psychiatric disease

  Relationship (and Sexuality) issues

ISSUES IN ADULT CARE

  Legal – guardianship

  Long term complications and specialist visits

  Negotiating health care with challenges

  Pediatric versus adult hospital and caregivers

  Insurance

  Transplant

  Where to admit

INSURANCE ISSUES IN

ADULT CARE

  Some with intellectual challenges ( we have a few high-power attorneys in our PKU group)

  Most age out of Medicaid

  Expect they will need some level of help

FORMULA ACCESS FOR

ADULTS

  Patient assistance programs are limited

  Not many insurance cover low protein foods (maybe 20% after deductible)

  Varies by locations   Medicare does not cover formula which is consumed by mouth;

must be by tube for swallowing dysfunction  Medicaid as a secondary will not pick up if Medicare denies  Problematic if one is covered by both

  Individual can age out of special insurances at 18 – 21 years old (i.e. REM program)

EXAMPLE- OUT OF POCKET FORMULA COST

  Adult with MSUD Nutrition Prescription  ~60 grams medical protein per day  One month’s supply of ketonex-2 = $1126.68 per month

  Valine and Isoleucine supplementation  Straight powder is relatively cheap but difficult to measure ($10/month)  Compounded forms or premeasured sachets = $100 – 1000 per month

  Low Protein Foods  One box of low protein pasta = $10.99 + shipping  One loaf of bread = $10.99 + shipping

CASE STUDY: THE TRANSITIONING TEEN

  A is 17-year-old female with PKU

  What do I need her to know and what do I need to know about her?  Does she make her own formula?  Can she could protein (phe)?  Does she know how to make appointments and order

formula?  Is she going to college, getting more training or starting a job

when done with HS?

  Does she want children, what is her sexual identity, sexual orientation?

  She can make formula and take meds

  She does not know how to order formula and has never made an appointment on her own

  She does not want to have children at this time

  She has had sex with men only

RELATIONSHIPS & SEXUALITY

  Many of our patients have questions about sexual relationships

  Their parents may or may not acknowledge this

  Be culturally aware

  This is normal development

  They are not going to tell you (unless you are Danie) unless you ask

  Don't forget those who have intellectual challenges…

EXAMPLE- THE FIRST DATE

Hi P__,

Congrats on hitting the dating scene! Below are some low protein ideas for items at Ihop. Remember to drink your formula ahead of time so you wont be hungry should the date go long. I hope you have a great time!

2 gram:

Hash browns with side of tomato’s

Pancake with fruit topping

Gluten free English muffin with side of fruit

…

Cheers,

Danie

EXAMPLE- THE FIRST DATE

Patient consented to share photos

BARRIERS AND BLESSINGS: TRANSITIONING TO ADULT CARE

  These are still adolescents   They have strong attitudes and opinions (!)  Getting through to them is extremely rewarding

  Parents accepting child is growing up  Playing middle-man during this difficult time  Opportunity to solidify patients understanding of disease

management

CASE STUDY: A IS GETTING MARRIED (SHE IS NOW 28 YEARS)

  Now what?

  Would she like her fiancé at an appointment? Does he have questions?

  They would like to try to start having kids in the next 1 year following wedding

PREGNANCY AND BIRTH

  What we do depends on the diagnosis?

  PKU vs MSUD vs FAO vs PA/MMA vs CBS deficiency vs UCD vs not small molecule

  Peripartum period lasts up to 8 weeks following delivery

Wilcox GReviews in Endocrine and Metabolic Disorders (2018) 19:13–33

BARRIERS AND BLESSINGS: PREGNANCY CARE

  Close contact with a patient through a life change  Takes a lot of time to manage  Get to experience the joy of new life

  Patient getting coverage for meds and formula  May have been off diet and has to learn to tolerate the diet again  Many organizations will support pregnant women with IEM’s

EXAMPLE- RD TIME COMMITMENT WITH PREGNANT PATIENT

• Diet immediately post-partum

• Diet during breastfeeding

• Weekly-monthly blood spots

• Weight management

• Medication discussions

• Decisions on long-term diet

Post-partum

• Delivery planning• Weight

management counseling

• Weekly blood spots

• Weekly food record analysis

• Education on higher protein foods

3rd trimester

• Weight management counseling

• Weekly blood spots

• Weekly food record analysis

• Education on higher protein foods

• Counseling

2nd trimester

• Nausea management

• Coordination with OBGYN

• Formula intolerance

• Weight management counseling

• Weekly blood spots

• Weekly food record analysis

• Counseling

1st trimester

• Returning to diet education

• Formula trials• Medications

discussions• Weekly blood

spots• Weekly food

record analysis• Educating partner• Counseling

Pre conception

EXAMPLE- RD TIME COMMITMENT WITH PREGNANT PATIENT

Patient consented to share photos

CASE STUDY: ADULT WITH ID

  N is a 52-year-old with CBS deficiency

  Intellectual disability (IQ is about 49); hypertension, ectopic lens

  Lives in protected living group home

  No formula coverage

  Power of attorney plays very small role in day to day living

  Be ready for positive regular screening (lump on mammogram or need for colonoscopy)

  History may be limited, but more time for all the forms.

BARRIERS AND BLESSINGS: CARING FOR ADULT WITH ID

  Working with group homes  Frequent staffing turn overs means frequent re-education  Staff usually excited to learn. Very happy to tips to make their jobs easier  Tend to actually do what you tell them! (unlike parents/family)

  Insurance- Cannot get formula covered   Most IEM organizations do not support formula  Opportunity to RD to flex skills and get creative

EXAMPLE- CREATIVE FORMULA SOLUTION

  Desired formula- any HCU formula- not covered by insurance  Patient has both Medicaid and Medicare

  Primary goal- protein supplement with no methionine

  Recipe:  2 scoops GNC BCAA powder  ¼ tsp GNC L-cystine  ¼ tsp GNC L-phenylalanine   à Makes up ~50% of protein needs and 30% calorie needs, saving ~$1000/month

CASE STUDY: OLDER ADULT WITH COMORBIDITIES

  Mr. S is a 65-year-old with partial pyridoxine-responsive CBS deficiency (Pyridoxine + milddiet restriction)

  He is retiring from his job as cook at a private school

  He will be transitioning to Medicare and has a very limited income

  He also has obesity, bilateral ectopic lens, peripheral neuropathy, rheumatoid arthritis, osteoporosis

ADULT SPECIFIC CHALLENGES

  Other providers may not be familiar with diagnosis

  Patient wants to help make decisions

  Adherence (Anyone here who can’t remember to take a full course of antibiotics understands)

  Education: sometimes what you think they know; they don’t know

OBESITY AND WEIGHT LOSS

  How to treat the disordered eating that we have given these patients

  Embracing the body type that the disease has created … or that genetics gave you…  Health at every size

  Weight loss education- with the metabolic RD or outside RD?

BARRIERS AND BLESSINGS: THE ADULT WITH COMORBIDITIES

  Set in their ways, often inflexible to new treatment recommendations  Have worked with multiple genetics teams  Opportunity for you to stand out

  Age related comorbidities  Managing IEM with other nutrition related disorder is hard  Creative problem solving for one patient can lead to ideas for others

WAYS TO IMPROVE THE ADULT EXPERIENCE

Adult onlyclinic days

Flexible schedules for morning and

evening appointments

Weekend appointments

Clinic rooms designed for adult

patients

Ability to do anthropometrics in

the room

Arrangements with community providers

EXPECT THEM TO BE

ADULTS!

QUESTIONS?

Our Contact information:

Kimberly A Chapman and Danielle Starin

Children’s National Rare Disease Institute, Washington DC

KChapman@childrensnational.org; Dstarin@childrensnational.org