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 MAP2K 2 - 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 Coordination & communication of The Bigger Picture 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 occupational 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 Extensive care - child has therapy 3x a day Mrs. Hernandez must be able to attend from 8a-3p each day Day Patient Feeding Service 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 Geared toward feeding issues that can be better While a weekly meeting is better than a daily resolved with family training meeting, Mrs. Hernandez still needs to be able to attend Weekly visits to the clinic Other caretakers in Catalina’s life need to attend Outpatient Feeding Service 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 or 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 Undeveloped oral motor skills bites 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)