1. Combined Nutrition, Nurses’ and Psychosocial Care Forum Avignon 2 November 2007 Nutrition and Growth Patients’ photographs have been removed from this presentation

2. Severe EB has been described as ”… recalcitrant nutritional deprivation unparalleled in all of clinical medicine.” (Tesi & Lin, 1992) Things have improved greatly in the last 15 years, thanks to MDT working

3. Dental / gum disease Oral, pharyngeal & oesophageal blistering Microstomia *, fixed tongue * Dysphagia Oesophageal stricture * Gastro-oesophageal reflux (GOR) Painful defaecation +/- constipation GI tract involvement Anal fissures Hand deformity * PAIN  food intake ? malabsorption  mobility  weight-bearing  sunlight exposure Growth failure Nutrient losses via blisters & wounds Nutritional deficiencies Compromised wound healing Compromised immunity Increased infection rates Pubertal delay / failure Osteoporosis / osteopenia Anorexia, Apathy, MISERY * Generally confined to RDEB Causes and effects of nutritional problems in severe EB But the complexity of some cases means that they still pose great challenges to MDT and carers alike

4. So, nutritional status is very important and the main ways of monitoring it are growth and blood tests

5. Children with RDEB are of significantly lower birthweight than unaffected children, and the compromise in growth seen throughout life in RDEB appears to begin in utero Fox AT, Alderdice F, Atherton DJ (2003) What are we aiming for? What is optimal growth?

6. Different types of EB : different growth expectations

7. Is this optimal growth?

9. Dowling-Meara EB Simplex

10. Is this optimal growth?

12. Summer 2006 12½ years old, with role model and Ducati 999R 6 months later Recessive dystrophic EB 1 2

13. The greater the number of professionals that are involved, the more interventions there are with which parents are expected to comply. The more severe the child’s EB, the greater the number of professionals that are involved in his/her care …………..

14. AnaesthetistCardiologistDentistDermatologistDietitianEndocrinologistGastroenterologist Haematologist & biochemist Interventional radiologist Nurse Occupational therapist Ophthalmologist Pain specialist PhysiotherapistPodiatristPsychologist Social worker Speech & language therapist SurgeonUrologist Is it any wonder that families don’t / can’t implement everything we advise ? So many professionals

15. 20 Medications / supplements ItemTimingItemTiming Sodium feredetate bd after meals Codeineprn Zinc sulphate od after meal Morphineprn Selenium od before feed Midazolamprn Calcium & Vit D od before feed Gabapentintds Ranitidine bd before feed Calpolprn Domperidone qds before feed Doxepinnocte Omeprazole od before feed BecotidebdLactulose Mesalazine bd after meals Sodium picosulphate od after feed Ketotifen bd after feed Piroxicam od before feed Pepti Junior Overnight 45ml x 1 x 10

16. As dietitians we have so much to offer, but does addressing sub-optimal nutrition just reinforce problems and increase parental guilt? We work in MDT’s to agreed care plans for patients, but we may be seen as the chalice bearers and this can make relationships with patients difficult and we can be seen as the bad guys

17. Nutrition, a “poisoned chalice”? Not my words, but those of a non-dietetic colleague Not that the chalice is poisoned, but that by addressing the EB child’s nutritional intake, status and growth, the chalice-bearer (dietitian) is touching on very sensitive and fundamental and sensitive parenting issues – ie parents’ ability to nourish their child.

18. Age 2 yearsAge 7 years Age 9 years (~ 6 months before gastrostomy placement) 16 years Gastrostomy placement

19. Gastrostomy – a patient’s opinion Before, weak and skinny After, strong and curvy

20. Why should this Become like this ?

21. A tight stricture (2mm) typically located in the thoracic oesophagus in severe RDEB The dilated stricture Oesophageal dilatation

22.  Where does/should nutrition lie in the list of priorities for care of severely-affected children?  How hard should we push severely-affected children (or adults) who don’t want to eat when life expectancy is short regardless of what we do?

23.  Nutrient losses via blisters & wounds  Nutritional deficiencies  Compromised wound healing  Compromised immunity  Infections  Pubertal delay / failure  Osteoporosis / osteopenia  Growth failure Consequences of complications of severe EB

24.  With difficulty, in severe EB, the tools we have are often associated with problems :-  Weight  Height  Body Mass Index (BMI) = weight (kg) / height (m 2 )  Waist circumference  Skinfold thickness (calipers)  Mid upper arm circumference  Individual limb measurements  Measurement of body composition How to monitor growth ?