Case #4 - Catalina Cardiofaciocutaneous Syndrome Advocating for Her - - PDF document

Case #4 - Catalina

Cardiofaciocutaneous Syndrome

Advocating for Her Well-Being

Presentation By Gail Kim, Janice Stovall, Jennifer van Gelder, Jordan Snajczuk & Natalie Dykzeul

Background Information - Case Information

• A six year old girl who loves her school
• Medical history:

○ Cardio Facio Cutaneous Syndrome ■ Chronic health problems (seizure and frequent medical appointments) ○ Severe allergies ○ Compromised immune system ○ Frequent ear infections ○ G-button for feeding (Failure-to-Thrive)

• Chief concern:

○ Coordination of the hospital team, the school and the daycare team for Catalina’s feeding goal

Background Information - Cardiofaciocutaneous Syndrome (CFC)

• A rare genetic disorder characterized by cardiac abnormalities, distinctive craniofacial appearance, and

cutaneous abnormalities

• Etiology:

○ Prevalence - currently no study providing an accurate estimate of the population prevalence ○ 200 individuals reported in the medical literature

• Causes:

○ Autosomal dominance or new mutations unlinked to family history ○ Gene mutations in one of four genes involved in Ras/Mitogen-activated protein kinase (MAPK) that is important in cell growth and cell division ■ BRAF mutation - most common ■ MAP2K1 and MAP2K2 - 10-15% cases

• Diagnosis:

○ Based on clinical findings and molecular genetic testing ○ Four genes associated with CFC syndrome: BRAF (~75%), MAP2K1 and MAP2K2 (~25%), and KRAS (<2%)

Signs and Symptoms

• Signs and symptoms

○ Facial ■ High forehead narrowing at the temples, a short nose, hypertelorism, down-slanting of palpebral fissures, ptosis, a small chin, and low-set ears ○ Skin, hair and nails ■ Dry, rough, and dark skin ■ Keratosis pilaris (small bumps on arms, legs, and face) ■ Dry curly hair and sparse or absent eyelashes and eyebrows ○ Heart ■ Pulmonary stenosis, septal defects, hypertrophic cardiomyopathy, rhythm disturbances ○ ID ○ Ocular ○ Endocrine abnormalities - growth hormone deficiency ○ Feeding difficulty

Treatment

• Care by a multidisciplinary team consists of:

○ Cardiology/surgeons: management of cardiac structural defect and other abnormalities ○ Nutrition - increasing caloric intake ○ Surgical intervention for gastroesophageal reflux ○ Endocrinologist - growth hormone deficiency ○ Ophthalmologist - ocular abnormality ○ Therapy team - OT, PT, Speech Language Pathology, & others services if necessary

The Bigger Picture

Coordination & communication of home, education, and health management.

The Bigger Picture

WHat is the Plan?

• Multidisciplinary treatment (Edwards et al. 2015)

○ Complex etiology of feeding problems ■ Child-caregiver interaction ■ Social learning ■ Developmental characteristics ■ Nutrition status ■ Chronic illness ○ Findings from the study ■ Weaning technique: nutrition modification and behavioral management ■ Parent-child interaction is another key element to G-tube weaning (parent training) ■ Oral aversions is common in children with minimal oral feeding experience

• Reflexive to learned behavior (completes transitioning around 8 months of age)

■ Tube feeding in chronically ill child constitutes a significant burden on a caregiver’s time

• Approximately 7h/day vs. 4h/day for feeding a healthy child
• Stress index - higher in parents of tube-fed children vs. parents of healthy children

What is the PLAN?

The treatment team will start with an initial conversation with Mrs. Hernandez about specific goals, concerns, and other factors that could impact her daughter’s health care and well-being. The team will then present the following resources to Mrs. Hernandez and help her incorporate each into Catalina’s health care plan.

• Feeding Therapy and G-Tube Weaning
• IEP Revision
• Family Navigator
• Interpreter
• Medicaid Application

VCU Feeding Clinic

• Day Patient Feeding Service

○ Daily Visits to the Clinic ○ Weekly Meetings ○ Family Training ○ Follow-up Services

• Outpatient Feeding Service

○ Weekly Visits to the Clinic ○ Family Training

Day Patient Feeding Services: Up Close

Parent must be with child at all times during Day Patient Feeding Services (8a-3p each day)

• Scheduled feeding therapy, play,and nap times

○ Feeding therapy = 3x/day

• Weekly Meetings with Treatment Team

○ Specialists include: pediatrics, behavioral psychology, nutrition, feeding therapy (specially trained

• ccupational therapists and speech/language pathologists), social work and nursing

○ Baseline behavioral feeding assessment ○ Review progress ○ Set goals

• Family Training

○ Family members/professionals observe feeding therapy sessions ○ Family members/professionals learn how to implement feeding therapy techniques

• Follow-Up Services

○ Questions by phone/email/follow-up appts ○ Coordination with professionals

Outpatient Feeding Services: Up Close

• Less severe feeding problems that can be addressed through family training
• Continue treatment after completion of the Day Patient Feeding Program
• Monitor child's response to treatment when the Day Patient Feeding Program is being considered.
• Weekly visits to the clinic

○ Services provided by: occupational therapists and speech/language pathologists with special training) along with psychologists, nutritionists and nurse practitioners

• Family training

○ Train family members, professionals, and other caregivers to manage problematic feeding issues at home ○ Menu planning ■ Can bring food from home so your child's therapist can monitor the type and texture of the child's food

Feeding Clinic Details

Who is involved?

• Catalina’s mother, Mrs. Hernandez
• Professionals associated with specific feeding service

○ Occupational therapists and speech/language pathologists, psychologists, nutritionists, nurse practitioners, nutritionists, social workers and nurses

• Catalina’s caretakers

○ Family ○ Daycare staff

• Catalina’s teacher/aide

With everyone’s cooperation, the feeding clinic can ensure that useful therapies and techniques are implemented in Catalina’s different environments to provide more consistent care. This consistency can prevent regression - a chief concern for Catalina’s mother.

What Feeding Program Is Best For Catalina?

Pros Cons

Day Patient Feeding Service

Extensive care - child has therapy 3x a day

• Mrs. Hernandez must be able to attend from 8a-3p

each day Weekly meetings with the entire treatment team Catalina’s feeding problem is regression at home/school/etc. This service may not be necessary Family / Professional training Can be overwhelming for both parent and child

Outpatient Feeding Service

Geared toward feeding issues that can be better resolved with family training While a weekly meeting is better than a daily meeting, Mrs. Hernandez still needs to be able to attend Weekly visits to the clinic Other caretakers in Catalina’s life need to attend the trainings if this is to be successful Family / Professional training Not seeing as many specialists

G-Tube Weaning

• G-Tube weaning requires an arranged multidisciplinary team meeting to include parent, service facilitator
• r family navigator (interpreter), hospital team, school team to develop a plan of care for transition.

Pros Cons Positive mealtime behaviors Side Effects Successful meal intake/accepts bites Undeveloped oral motor skills Successful meal plans Behavior Pain management Pain Weight gain Recurrent illness Positive reinforcement Parental stress

IEP Revision

Strategy

• Schedule a meeting with the IEP team to review and revise Carolina’s IEP to promote optimal learning and performance.
• During the meeting, develop a management system to track Carolina’s progress and growth
• Bi-monthly meetings to ensure that IEP is being upheld
• Create a way for the teacher to communicate with Mrs. Hernandez on a weekly basis regarding Carolina’s academic progress
• Incorporate the feeding plan into the IEP
• Look into options for independent study

Who would be involved?

• Mrs. Hernandez
• School Administrator (Principal)
• Teacher
• Case Manager
• Interpreter
• Therapists (from school)

IEP Revision

Benefits of Revision Process

• Carolina’s success in school will help with her social normalization
• A good outcome for Catalina would be an educational process that is fluid and that allows her to be successful
• Though just a part of the plan, ensuring Carolina’s comfort and success in school will give Mrs. Hernandez peace of mind

Problems

• Coordinating an IEP meeting is not an easy task
• There are many levels of involvement that need to be maintained and actively working towards Catalina’s success
• Success in the academic environment is more than just teaching, it is student comfort, learning abilities, well-being and

creating an environment that allows for optimal learning is not an easy task

Evidence-Based Practice

Parental voices on Individualized Education Programs: ‘Oh, IEP meeting tomorrow? Rum tonight!’ “The Individualized Education Program (IEP) was developed as a part of US Public Law 94-142 related to educating students with disabilities. The aim of the IEP process was to ensure that educators and parents are involved in collaboratively creating a formalized plan for instruction that will address unique students’ needs. However, the IEP process has created unintended consequences such as depersonalized meetings, and a focus on paperwork and compliance rather than collaboration with parents. The parents interviewed in this study offered a number of recommendations on how to make both the process and the product of IEP meetings more meaningful.”

Communication - How can we fix this?

• Communication is a key problem facing Catalina’s mother
• Essential
• Determine how to best guarantee an interpreter at all appointments

○ First need to see what is provided

• Medicaid

○ Under Title VI of the Civil Rights Act, required to make language services available to those with limited English proficiency

• What can be done?

○

Interpreter - provide through school/hospital vs. hire outside ○ Use Family Navigator

Could a family navigator be useful?

• What is a Family Navigator?

○ A parent, caregiver, family member, etc. who has gone through challenges with services for a child with a disability ○ Provide advice and recommendations for services ○ Spanish speaking available

• VCU Partnership for People with Disabilities

○ https://centerforfamilyinvolvement.vcu.edu/family-to-family-network/become-a-family-navigator/ ○ Free service

Pros and cons

Pros Cons Family Navigator

• Spanish speaking available
• Access resources and gain

advice

• Empower self-advocacy
• Won’t provide interpretation for

you

• Do not go to all the meetings

with you Interpreters provided by School/Hospital

• Free of cost
• Required to have services

available

• Not always available when

needed

• Different interpreter each time
• Does not aid with outside

communication to school/hospital Hire Outside Interpreter

• Know that they will be able to

come to your appointments and services are available

• Cost
• Self-initiated by parent

Applying for & QUalifying for Medicaid

• Catalina has other chronic health problems associated with Cardio Facio Cutaneous Syndrome

including... ○ Seizures, Severe allergies, Viral infections, Ear infections, G-tube for feeding.

• Mrs. Hernandez contacted her local Department of Social Services who instructed her to complete a

Medicaid application (spanish version) online at www.commonhelp.virginia.gov.

• Within the required 45 days of the application process, Mrs. Hernandez was screened by a Department of

Social Services intake case worker and a health department nurse to evaluate Catalina for medicaid waiver services.

• Why is this important? This is important because of the severity of Catalina’s condition and the multiple

medical and educational needs; Ms. Gonzalez can focus on helping her child physically and emotionally without the additional stress regarding cost and payment for vital services.

Application of Legislation - Medicaid

Upon approval Medicaid services will cover (but not limited to) the following medical needs required for Catalina:

• Medical appointments at feeding clinic
• Physicians that understand Cardio Facio Cutaneous Syndrome
• Prescription medications for allergies, viral infections, ear infections, & seizures
• Services provided at school (feeding therapy and other therapies deemed necessary)
• In-home attendant and respite care services paid through Public Partnerships
• Hospital and in-home feeding therapy that is uniform and working towards a common goal
• Language interpretation services to be available

Application of Legislation - FERPA

Educational Records & Identifying Information

• Mrs. Hernandez will have the right:
• To inspect and review Catalina’s educational records
• To request that changes to Catalina’s education records be made
• To consent for these records to be disclosed to other professionals
• To file a complaint if there is a violation of the legislation

This will allow Mrs. Hernandez to keep track of Catalina’s progress in school and will allow for Mrs. Gonzalez to have this progress shared with Catalina’s health care providers (physicians, therapists, etc.)

Application of Legislation - HIPAA

Medical Records & Information

• Mrs. Hernandez will have the right:
• To view and obtain Catalina’s health records
• To request that changes to Catalina’s health documentation
• To get documents that share how the health information can be applied
• To make decisions about the disclosure of Catalina’s medical records to other treatment

professionals

• To file complaints with your provider, healthcare insurer, or the U.S. Department of Health &

Human Services This Act protects all of the information and details in Catalina’s medical records including conversations between medical professionals, information about health insurance, and information about billing.

How Can We Measure Progress and Outcomes?

*Bi-monthly meetings with Mrs. Hernandez to ensure that all strategies are working towards the initially established goals and to ensure that she is satisfied with Catalina’s progress and quality of care. Feeding Therapy

• Successful outcomes will be easiest to gauge based on both the mother’s satisfaction with the daughter’s progress and the

child’s actual ability to wean off the g-tube G-Tube Weaning

• Develop a plan of care, track meals and behaviors, log food intake once per week
• Obtain feedback and reporting outcomes for the school and day care staff

Family Navigator

• Obtain feedback from Mrs. Hernandez during her experience with a family navigator. Positive feedback equals progress!

Interpreter

• Maintain communication with Mrs. Hernandez regarding the presence or absence of interpretation services at appointments

and meetings Medicaid Application

• Track status of application - unfortunately this is often a time of patience!

IEP Revision

• Catalina’s grades,scores on standardized tests and appropriate matriculation from grade to grade
• Catalina’s ability to normalize in the school environment and socialize with peers (reported by teacher)
• A report from Mrs. Hernandez that she is satisfied with her daughter’s education and in-school therapy

Bringing It All Together

Any Other Ideas?

Related Articles -Citations

1. Edwards S, Davis AM, Bruce A, Mousa H, Lyman B, Cocjin J, Dean K, Ernst L, Almadhoun O, Hyman P. Caring for Tube-Fed Children: A Review of Management, Tube Weaning, and Emotional Considerations. JPEN J Parenter Enteral Nutr. 2016 Jul;40(5):616-22. doi: 10.1177/0148607115577449. PubMed PMID: 25791833. 2. Zeitlin, Virginia M., and Svjetlana Curcic. “Parental Voices on Individualized Education Programs: Oh, IEP Meeting Tomorrow? Rum Tonight!”. Disability & Society 29.3 (2013):373-387. Web.